Prof Peter Scambler

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Personal Profile

Name: Peter Scambler Email: p.scambler@ucl.ac.uk
Title: Prof Tel: 2079052635
Department: ICH Development Bio & Cancer Prog Fax: 020 79052609
Position: Professor of Molecular Medicine Address: Room 211, DBBD, UCL-ICH, 30 Guildford St, London, WC1N 1EH
Research Domain: Basic Life Sciences, Cardiometabolic Science, Personalised Medicine, Populations & Lifelong Health Web Page: Personal Web Page

Profile

Research Description

Our goal is to elucidate the genetic and developmental basis of congenital malformations. Previous and current work indicates that this can uncover novel genetic mechanisms and offer insights into general mechanisms of development and even common disease. For instance, the deletion 22q11 casuing DiGeorge syndrome is the greatest known genetic risk factor for schizophrenia. Clinical and diagnosis and prognosis can be improved, and in some cases there is the prospect of new therapeutic intervention. Two genes under investigation (Tbx1 and Hira) have roles in progenitor or stem cell populations.

The tools used include creation and analysis of models in mouse and zebrafish. We explore novel methods of imaging the phenotypes observed (in collaboration with UCL's CABI). In humans, genetic approaches include high resolution, genome-wide, screens and sequencing, in particular making use of consanguineous families. We also collaborate across non-life science faculties via the CoMPLEX programme.


Research Activities

Ciliopathies, cilia

Genetic and Developmental Genetics of Human Birth Defects

Genetics of early CNS malformations, cleft lip and cleft palate

Normal and abnormal kidney and renal tract development

Pathogenesis of craniofacial birth defects.

Education Description

I manage two 4 year PhD programmes with the first intake being October 2009, and the last intake 2012.

One is run through UCL CoMPLEX and is specifically designed to bring non-life scientists and cardiovascular biologists together for innovative projects. The first year of this course is essentially the same as that for all CoMPLEX students.

The second is for more standard, biologically orientated PhDs. The first year is run alongside the UCL-ICH MRes scheme.

UCL Collaborators

Prof Stephen Hart; Dr Mike Hubank; Dr Paul Winyard; Prof Gudrun Moore; Dr Erwin Pauws; Prof Raoul Hennekam; Dr David Long; Prof Philip Beales; Prof Peter Hammond; Prof Adrian Woolf; Dr Philip Stanier; Prof Nicholas Greene; Prof Mark Lythgoe; Prof Christopher O'callaghan; Prof Andrew Copp; Dr Hannah Mitchison; Dr Eddie Chung

External Collaborators

Publications

    2014

    • Dykes IM, Lammerts van Bueren K, Ashmore RJ, Floss T, Wurst W, Szumska D, Bhattacharya S, Scambler PJ (2014). HIC2 is a Novel Dosage-Dependent Regulator of Cardiac Development Located Within the Distal 22q11 Deletion Syndrome Region.. Circ Res, , - . doi:10.1161/CIRCRESAHA.115.303300
    • Fuchs JC, Zinnamon FA, Taylor RR, Ivins S, Scambler PJ, Forge A, Tucker AS, Linden JF (2014). Correction: Hearing Loss in a Mouse Model of 22q11.2 Deletion Syndrome.. PLoS One, 9(1), - . doi:10.1371/annotation/f10a686b-b6e2-4630-8c6f-7a91191ae732
    • Norris FC, Siow BM, Cleary JO, Wells JA, De Castro SC, Ordidge RJ, Greene ND, Copp AJ, Scambler PJ, Alexander DC, Lythgoe MF (2014). Diffusion microscopic MRI of the mouse embryo: Protocol and practical implementation in the splotch mouse model.. Magn Reson Med, , - . doi:10.1002/mrm.25145

    2013

    • Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV, UK10K Consortium , Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F (2013). Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans.. Am J Hum Genet, , - . doi:10.1016/j.ajhg.2013.09.012
    • Norris FC, Modat M, Cleary JO, Price AN, McCue K, Scambler PJ, Ourselin S, Lythgoe MF (2013). Segmentation propagation using a 3D embryo atlas for high-throughput MRI phenotyping: comparison and validation with manual segmentation.. Magn Reson Med, 69(3), 877 - 883. doi:10.1002/mrm.24306
    • Yu T, Meiners LC, Danielsen K, Wong MT, Bowler T, Reinberg D, Scambler PJ, van Ravenswaaij-Arts CM, Basson MA (2013). Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome.. Elife, 2(0), e01305 - . doi:10.7554/eLife.01305
    • Fuchs JC, Zinnamon FA, Taylor RR, Ivins S, Scambler PJ, Forge A, Tucker AS, Linden JF (2013). Hearing loss in a mouse model of 22q11.2 deletion syndrome.. PLoS One, 8(11), e80104 - . doi:10.1371/journal.pone.0080104
    • McInerney-Leo AM, Schmidts M, Cortes CC, Leo PJ, Gener B, Courtney AD, Gardiner B, Harris JA, Lu Y, Marshall M, UK10K , Scambler PJ, Beales PL, Brown MA, Zankl A, Mitchison HM, Duncan EL, Wicking C (2013). Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60. American Journal of Human Genetics, , - . doi:10.1016/j.ajhg.2013.06.022
    • Papangeli I, Scambler PJ (2013). Tbx1 genetically interacts with the transforming growth factor-β/bone morphogenetic protein inhibitor Smad7 during great vessel remodeling.. Circ Res, 112(1), 90 - 102. doi:10.1161/CIRCRESAHA.112.270223
    • Onoufriadis A, Antony D, Schmidts M, Petridi S, Scambler PJ, Pals G, Mitchison HM, Paff T, Micha D, Kuyt B, Haarman EG, Daniels JMA, Shoemark A, Hogg C, Dankert-Roelse JE, Emes RD, Wilson R, Chung EMK (2013). Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia. American Journal of Human Genetics, 92(1), 88 - 98. doi:10.1016/j.ajhg.2012.11.002
    • Norris FC, Cleary JO, Price AN, Lythgoe MF, Modat M, Ourselin S, McCue K, Scambler PJ (2013). Segmentation propagation using a 3D embryo atlas for high-throughput MRI phenotyping: Comparison and validation with manual segmentation. Magnetic Resonance in Medicine, 69(3), 877 - 883. doi:10.1002/mrm.24306
    • Antony D, Schmidts M, Onoufriadis A, Forouhan M, Scambler PJ, Mitchison HM, Becker-Heck A, Loges NT, Olbrich H, Omran H, Zariwala MA, Wilson R, Taylor-Cox T, Dewar A, Hogg C, Shoemark A, Jackson C, Goggin P, Lucas JS, Jaspers M, Jorissen M, Leigh MW, Wolf WE, Daniels MLA, Noone PG, Knowles MR, Ferkol TW, Sagel SD, Rosenfeld M, Rutman A, O'Callaghan C, Dixit A, Emes RD, Chung EMK (2013). Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms. Human Mutation, 34(3), 462 - 472. doi:10.1002/humu.22261
    • Norris FC, Wells JA, Cleary JO, Siow BM, Walker-Samuel S, Lythgoe MF, Betts-Henderson J, Salomoni P, McCue K, Scambler PJ (2013). Enhanced tissue differentiation in the developing mouse brain using magnetic resonance micro-histology. Magnetic Resonance in Medicine, 70(5), 1380 - 1388. doi:10.1002/mrm.24573
    • Norris FC, Lythgoe MF, Wong MD, Henkelman RM, Greene NDE, Scambler PJ, Weaver T, Weninger WJ, Mohun TJ (2013). A coming of age: Advanced imaging technologies for characterising the developing mouse. Trends in Genetics, 29(12), 700 - 711. doi:10.1016/j.tig.2013.08.004
    • Roberts C, Ivins S, Van Bueren KL, Vernay B, Yashiro K, Scambler PJ (2013). Cyp26b1 null embryos display a 22q11 deletion syndrome-like cardiovascular phenotype which is modified by the presence of an additional Tbx1(+/-) allele.
    • Payne S, Mccue K, Burney M, Popal N, Scambler P (2013). Chd7 is required in cardiomyocytes for the transcriptional control of heart development.
    • Schmidts M, Vodopiutz J, Christou-Savina S, Cortés CR, McInerney-Leo AM, Emes RD, Arts HH, Tüysüz B, D'Silva J, Leo PJ, Giles TC, Oud MM, Harris JA, Koopmans M, Marshall M, Elçioglu N, Kuechler A, Bockenhauer D, Moore AT, Wilson LC, Janecke AR, Hurles ME, Emmet W, Gardiner B, Streubel B, Dopita B, Zankl A, Kayserili H, Scambler PJ, Brown MA, Beales PL, Wicking C, UK10K , Duncan EL, Mitchison HM (2013). Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy.. Am J Hum Genet, 93(5), 932 - 944. doi:10.1016/j.ajhg.2013.10.003
    • Onoufriadis A, Shoemark A, Munye MM, James CT, Schmidts M, Patel M, Rosser EM, Bacchelli C, Beales PL, Scambler PJ, Hart SL, Danke-Roelse JE, Sloper JJ, Hull S, Hogg C, Emes RD, Pals G, Moore AT, Chung EM, UK10K , Mitchison HM (2013). Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.. J Med Genet, , - . doi:10.1136/jmedgenet-2013-101938
    • Carnaghan H, Roberts T, Savery D, Norris F, McCann CJ, Copp AJ, Scambler P, Lythgoe M, Greene NDE, DeCoppi P, Burns A, Pierro A, Eaton S (2013). Novel exomphalos genetic mouse model: the importance of accurate phenotypic characterisation.. Journal of Pediatric Surgery, 48(10), 2036 - 2042. doi:10.1016/j.jpedsurg.2013.04.010.
    • Papangeli I, Scambler P (2013). The 22q11 deletion: DiGeorge and velocardiofacial syndromes and the role of TBX1.. Wiley Interdiscip Rev Dev Biol, 2(3), 393 - 403. doi:10.1002/wdev.75
    • Schmidts M, Arts HH, Bongers EMHF, Yap Z, Oud MM, Antony D, Duijkers L, Emes RD, Stalker J, Yntema J-BL, Plagnol V, Hoischen A, Gilissen C, Forsythe E, Lausch E, Veltman JA, Roeleveld N, Superti-Furga A, Kutkowska-Kazmierczak A, Kamsteeg E-J, Elcioglu N, van Maarle MC, Graul-Neumann L, Devriendt K, Smithson S, Wellesley D, Verbeek NE, Hennekam RCM, Kayserili H, Scambler PJ, Beales PL, UK10K , Knoers NVAM, Roepman R, Mitchison HM (2013). Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. Journal of Medical Genetics, 50(5), 309 - 323. doi:10.1136/jmedgenet-2012-101284
    • Schmidts M, Frank V, Eisenberger T, al Turki S, Antony D, Rix S, Decker C, Bachmann N, Bald M, Vinke T, Toenshoff B, Di Donato N, Neuhann T, Hartley JL, Maher ER, Bogdanovic R, Peco-Antic A, Mache C, Hurles ME, UK10K , Bolz HJ, Pazour GJ, Beales PL, Scambler PJ, Bergmann C, Mitchison HM (2013). Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney disease. Human Mutation, 34(5), 714 - 724. doi:10.1002/humu.22294
    • Schmidts M, Christou-Savina S, D'Silva J, Scambler PJ, Beales PL, Mitchison HM, Vodopiutz J, Cortés CR, Wicking C, McInerney-Leo AM, Leo PJ, Harris JA, Marshall M, Gardiner B, Brown MA, Duncan EL, Emes RD, Giles TC, Arts HH, Oud MM, Tüysüz B, Koopmans M, Elçioglu N, Kuechler A, Bockenhauer D, Moore AT, Wilson LC, Janecke AR, Hurles ME, Emmet W, Streubel B, Dopita B, Zankl A, Kayserili H (2013). Mutations in the gene encoding IFT dynein complex component WDR34 cause jeune asphyxiating thoracic dystrophy. American Journal of Human Genetics, 93(5), 932 - 944. doi:10.1016/j.ajhg.2013.10.003

    2012

    • Papangeli I, Scambler PJ (2012). Tbx1 genetically interacts with the TGFβ/BMP inhibitor Smad7 during great vessel remodeling. Circulation Research, , - . doi:10.1161/CIRCRESAHA.112.270223
    • Pitera JE, Turmaine M, Woolf AS, Scambler PJ (2012). Generation of mice with a conditional null fraser syndrome 1 (fras1) allele. Genesis, 50(11), 851 - 851. doi:10.1002/dvg.22356
    • Voss AK, Vanyai HK, Collin C, Dixon MP, McLennan TJ, Sheikh BN, Scambler P, Thomas T (2012). MOZ regulates the Tbx1 locus, and Moz mutation partially phenocopies DiGeorge syndrome.. Dev Cell, 23(3), 652 - 663. doi:10.1016/j.devcel.2012.07.010
    • Pitera JE, Woolf AS, Basson MA, Scambler PJ (2012). Sprouty1 haploinsufficiency prevents renal agenesis in a model of Fraser syndrome.. J Am Soc Nephrol, 23(11), 1790 - 1796. doi:10.1681/ASN.2012020146
    • Vogel MJ, van Zon P, Brueton L, Gijzen M, van Tuil MC, Cox P, Schanze D, Kariminejad A, Ghaderi-Sohi S, Blair E, Zenker M, Scambler PJ, Ploos van Amstel HK, van Haelst MM (2012). Mutations in GRIP1 cause Fraser syndrome.. J Med Genet, 49(5), 303 - 306. doi:10.1136/jmedgenet-2011-100590
    • Kerecuk L, Long DA, Ali Z, Anders C, Kolatsi-Joannou M, Scambler PJ, Woolf AS (2012). Expression of Fraser syndrome genes in normal and polycystic murine kidneys.. Pediatr Nephrol, 27(6), 991 - 998. doi:10.1007/s00467-012-2100-5
    • Schmidts M, Arts HH, Yap Z, Bongers EMHF, Anthony D, Oud MM, al Turki S, Duijkers L, Stalker J, Yntema JBL, Hoischen A, Gilissen C, Veltman J, Hurles ME, Kamsteeg EJ, Scambler P, Beales PL, Knoers NVAM, Roepman R, Mitchison HM (2012). Mutations in DYNC2H1 are common in Jeune Asphyxating Thoracic Dysplasia (JATD) without extraskeletal features while IFT140 mutations cause JATD with renal involvement.
    • Antony D, Becker-Heck A, Zariwala M, Schmidts M, Onoufriadis A, Forouhan M, Wilson R, Cox T, Dewar A, Jackson C, Goggin P, Loges NT, Olbrich H, Jaspers M, Jorissen M, Leigh MW, Wolf WE, Daniels MLA, Noone PG, Ferkol TW, Sagal SD, Rosenfeld M, Rutman A, Dixit A, O'Callaghan C, Lucas JS, Hogg C, Emes RD, UK10K , Chung EMK, Shoemark A, Knowles MR, Omran H, Mitchison HM (2012). Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganisation and absent inner dynein arms. Human Mutation, In press, - .
    • Norris FC, Wells JA, Cleary JO, Siow BM, Walker-Samuel S, Lythgoe MF, Betts-Henderson J, Salomoni P, Mccue K, Scambler PJ (2012). Enhanced tissue differentiation in the developing mouse brain using magnetic resonance micro-histology. Magnetic Resonance in Medicine, , - . doi:10.1002/mrm.24573
    • Laufer J, Norris F, Cleary J, Zhang E, Treeby B, Cox B, Johnson P, Scambler P, Lythgoe M, Beard P (2012). In vivo photoacoustic imaging of mouse embryos.. J Biomed Opt, 17(6), 061220 - . doi:10.1117/1.JBO.17.6.061220
    • Pitera JE, Turmaine M, Woolf AS, Scambler PJ (2012). Generation of mice with a conditional null Fraser syndrome 1 (Fras1) allele.. Genesis, 50(12), 892 - 898. doi:10.1002/dvg.22045
    • Yu T, Danielsen K, Shah A, Smachetti E, Scambler P, Basson MA (2012). The chromatin-remodelling factor CHD7 controls multiple developmental programmes during development of the cerebellum.

    2011

    • Norris FC, Cleary JO, Modat M, Sinclair B, Mccue K, Wells JA, Martinez-Barbera JP, Brander S, Fisher E, Scambler PJ, Ourselin S, Lythgoe MF (2011). Mouse phenotyping using high resolution 3D microscopic magnetic resonance imaging.
    • Wong YF, Kopp JB, Roberts C, Scambler PJ, Abe Y, Rankin AC, Dutt N, Hendry BM, Xu Q (2011). Endogenous retinoic acid activity in principal cells and intercalated cells of mouse collecting duct system.. PLoS One, 6(2), e16770 - . doi:10.1371/journal.pone.0016770
    • Aza-Carmona M, Shears DJ, Yuste-Checa P, Barca-Tierno V, Hisado-Oliva A, Belinchón A, Benito-Sanz S, Rodríguez JI, Argente J, Campos-Barros A, Scambler PJ, Heath KE (2011). SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer.. Hum Mol Genet, 20(8), 1547 - 1559. doi:10.1093/hmg/ddr032
    • Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, Lewis LR, Cherukuri P, Maskeri B, Hansen NF, Mullikin JC, Blakesley RW, Bouffard GG, NISC Comparative Sequencing Program , Gyapay G, Rieger S, Tönshoff B, Kern I, Soliman NA, Neuhaus TJ, Swoboda KJ, Kayserili H, Gallagher TE, Lewis RA, Bergmann C, Otto EA, Saunier S, Scambler PJ, Beales PL, Gleeson JG, Maher ER, Attié-Bitach T, Dollfus H, Johnson CA, Green ED, Gibbs RA, Hildebrandt F, Pierce EA, Katsanis N (2011). TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.. Nat Genet, 43(3), 189 - 196. doi:10.1038/ng.756
    • Cleary JO, Modat M, Norris FC, Price AN, Jayakody SA, Martinez-Barbera JP, Greene ND, Hawkes DJ, Ordidge RJ, Scambler PJ, Ourselin S, Lythgoe MF (2011). Magnetic resonance virtual histology for embryos: 3D atlases for automated high-throughput phenotyping.. Neuroimage, 54(2), 769 - 778. doi:10.1016/j.neuroimage.2010.07.039
    • Alam-Faruque Y, Huntley RP, Khodiyar VK, Camon EB, Dimmer EC, Sawford T, Martin MJ, O'Donovan C, Talmud PJ, Scambler P, Apweiler R, Lovering RC (2011). The impact of focused Gene Ontology curation of specific mammalian systems.. PLoS One, 6(12), e27541 - . doi:10.1371/journal.pone.0027541
    • Lau K, Diaz V, Scambler P, Burriesci G (2011). Fluid-Structure Interaction Study of the Edge-to-Edge Repair Technique on the Mitral Valve. Journal of Biomechanics, 44(13), 2409 - 2417. doi:10.1016/j.jbiomech.2011.06.030
    • Khodiyar VK, Hill DP, Howe D, Berardini TZ, Tweedie S, Talmud PJ, Breckenridge R, Bhattarcharya S, Riley P, Scambler P, Lovering RC (2011). The representation of heart development in the gene ontology.. Dev Biol, 354(1), 9 - 17. doi:10.1016/j.ydbio.2011.03.011
    • Rix S, Calmont A, Scambler PJ, Beales PL (2011). An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia.. Hum Mol Genet, 20(7), 1306 - 1314. doi:10.1093/hmg/ddr013
    • Bassett AS, McDonald-McGinn DM, Sullivan K, Goldenberg P, Habel A, Digilio MC, Devriendt K, Swillen A, Marino B, Oskarsdottir S, Philip N, Vorstman J, Abadie V, Allgrove J, Amati F, Baker K, Baylis A, Beaujard M-P, Beemer F, Boers M, Bolton P, Boot E, Brigstocke S, Burtey S, Campbell L, Chabloz M, Chow E, Clayton-Smith J, Cubells J, Debbané M, Delrue M-A, De Smedt B, Duijff S, Eicher P, Emanuel B, Evers L, Flahault A, Forsythe A, Frebourg T, Gennery A, Goldmuntz E, Gosling A, Handler S, Heine-Suñer D, Hilmarsson A, Hogan A, Hordijk R, Howley S, Illingworth E, Jackson O, Joyce H, Kawame H, Kelly R, Kemp A, Kempf L, Kimpen JLL, Kirschner R, Klaassen P, Kumararatne D, Lambert M, Lima K, Lindsay E, Macerola S, Malki MB, Marlin S, Mascarenhas M, Monks S, Moran V, Morrow B, Moss E, Murphy C, Naqvi N, Nielsen BW, Niklasson L, Nordgarden H, Oenema-Mostert CE, Ottet M-C, Pasca C, Pasquariello P, Persson C, Portnoi M-F, Prasad S, Rockers K, Saitta S, Scambler P, Schaer M, Schneider M, Sell D, Solot C, Sommerlad B, Unanue N, Sundram F, Van Aken K, van Amelsvoort T, van der Molen AM, Widdershoven J, Zackai EH (2011). Practical guidelines for managing patients with 22q11.2 deletion syndrome. Journal of Pediatrics, 159(2), - . doi:10.1016/j.jpeds.2011.02.039

    2010

    • van Bueren KL, Papangeli I, Rochais F, Pearce K, Roberts C, Calmont A, Szumska D, Kelly RG, Bhattacharya S, Scambler PJ (2010). Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome.. Dev Biol, 340(2), 369 - 380. doi:10.1016/j.ydbio.2010.01.020
    • Griffin HR, Töpf A, Glen E, Zweier C, Stuart AG, Parsons J, Peart I, Deanfield J, O'Sullivan J, Rauch A, Scambler P, Burn J, Cordell HJ, Keavney B, Goodship JA (2010). Systematic survey of variants in TBX1 in non-syndromic tetralogy of Fallot identifies a novel 57 base pair deletion that reduces transcriptional activity but finds no evidence for association with common variants.. Heart, 96(20), 1651 - 1655. doi:10.1136/hrt.2010.200121
    • Alam-Faruque Y, Dimmer EC, Huntley RP, O'Donovan C, Scambler P, Apweiler R (2010). The Renal Gene Ontology Annotation Initiative.. Organogenesis, 6(2), 71 - 75.
    • Shah N, Thompson A, Strautnieks S, Milla P, Hill S, Lindley K, Thapar N, Scambler P, Thompson R (2010). PREDICTING THE OUTCOME OF CONGENITAL INTESTINAL FAILURE. J PEDIATR GASTR NUTR, 50, E171 - E172.
    • Lau K, Diaz-Zuccarini V, Scambler P, Burriesci G (2010). Mitral Valve dynamics in structural and fluid-structure interaction models.. Medical Engineering and Physics, 32(9-2), 1057 - 1064.
    • Goldberg AD, Banaszynski LA, Noh KM, Lewis PW, Elsaesser SJ, Stadler S, Dewell S, Law M, Guo X, Li X, Wen D, Chapgier A, DeKelver RC, Miller JC, Lee YL, Boydston EA, Holmes MC, Gregory PD, Greally JM, Rafii S, Yang C, Scambler PJ, Garrick D, Gibbons RJ, Higgs DR, Cristea IM, Urnov FD, Zheng D, Allis CD (2010). Distinct factors control histone variant H3.3 localization at specific genomic regions.. Cell, 140(5), 678 - 691. doi:10.1016/j.cell.2010.01.003
    • Scambler PJ (2010). 22q11 deletion syndrome: a role for TBX1 in pharyngeal and cardiovascular development.. Pediatr Cardiol, 31(3), 378 - 390. doi:10.1007/s00246-009-9613-0
    • Scambler PJ (2010). Identification and Analysis of Genes Involved in Congenital Malformation Syndromes. Embryos, Genes and Birth Defects: Second Edition, , 51 - 77. doi:10.1002/9780470090121.ch4
    • Rix S, Hernandez V, Scambler P, Beales PL (2010). A hypomorphic Ift80 genetrap mouse line phenocopies short rib polydactyly syndromes owing to defects in hedgehog signalling.
    • Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, Percin F, Goodman F, Nürnberg G, Cenani A, Urquhart J, Chung BD, Ismail S, Amr K, Aslanger AD, Becker C, Netzer C, Scambler P, Eyaid W, Hamamy H, Clayton-Smith J, Hennekam R, Nürnberg P, Herz J, Temtamy SA, Wollnik B (2010). LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.. Am J Hum Genet, 86(5), 696 - 706. doi:10.1016/j.ajhg.2010.03.004

    2009

    • Roberts C, van Bueren KL, Scambler P (2009). Genetic interaction of tbx1 with the Notch pathway effector her6 is required for pharyngeal development in the zebrafish. MECHANISMS OF DEVELOPMENT, 126, S120 - S120. doi:10.1016/j.mod.2009.06.228
    • Hanson DE, Murray PG, Sud A, Temtamy SA, Aglan M, Superti-Furga A, Holder SE, Urquhart J, Hilton E, Manson FDC, Scambler P, Clayton PE, Black GCM (2009). The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. Hormone Research, 72, 26 - 26.
    • Koziell AB, Green G, Kim J, Milford D, Welsh G, Scambler P, Saleem MA, Shaw AS (2009). CD2AP MUTATIONS DISRUPT CD2AP-NEPHRIN BINDING AND ARE A CAUSE OF IDIOPATHIC DIFFUSE MESANGIAL SCLEROSIS IN CHILDHOOD.. PEDIATR NEPHROL, 24(9), 1780 - 1781. doi:10.1007/s00467-009-1250-6
    • Randall V, McCue K, Roberts C, Kyriakopoulou V, Beddow S, Barrett AN, Vitelli F, Prescott K, Shaw-Smith C, Devriendt K, Bosman E, Steffes G, Steel KP, Simrick S, Basson MA, Illingworth E, Scambler PJ (2009). Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice. J CLIN INVEST, 119(11), 3301 - 3310. doi:10.1172/JCI37561
    • Calmont A, Ivins S, Van Bueren KL, Papangeli I, Kyriakopoulou V, Andrews WD, Martin JF, Moon AM, Illingworth EA, Basson MA, Scambler PJ (2009). Tbx1 controls cardiac neural crest cell migration during arch artery development by regulating Gbx2 expression in the pharyngeal ectoderm. DEVELOPMENT, 136(18), 3173 - 3183. doi:10.1242/dev.028902
    • Kerecuk L, Lange-Sperandio B, Rodenbeck B, Schaefer F, Long DA, Scambler PJ, Woolf AS (2009). GENE EXPRESSION PROFILING IN NEONATAL URETERIC OBSTRUCTION IMPLICATES UNSUSPECTED MOLECULES IN CONGENITAL OBSTRUCTIVE UROPATHY. PEDIATR NEPHROL, 24(9), 1802 - 1802.
    • Twigg SRF, Versnel SL, Nurnberg G, Lees MM, Bhat M, Hammond P, Hennekam RCM, Hoogeboom AJM, Hurst JA, Johnson D, Robinson AA, Scambler PJ, Gerrelli D, Nurnberg P, Mathijssen IMJ, Wilkie AOM (2009). Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene. AM J HUM GENET, 84(5), 698 - 705. doi:10.1016/j.ajhg.2009.04.009
    • Hanson D, Murray PG, Sud A, Remtamy SA, Aglan M, Superti-Furga A, Holder SE, Urquhart J, Hilton E, Manson FDC, Scambler P, Black GCM, Clayton PE (2009). The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1. American Journal of Human Genetics, 84(6), 801 - 806.
    • Hanson D, Murray PG, Sud A, Temtamy SA, Aglan M, Superti-Furga A, Holder SE, Urquhart J, Hilton EN, Manson FDC, Scambler P, Clayton PE, Black GCM (2009). The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor Obscurin-Like 1. Journal of Medical Genetics, 46, S25 - S25.
    • Mccue K, Randall V, Roberts C, Kyriakopoulou V, Vitelli F, Prescott K, Devriendt K, Shaw-Smith C, Simrick S, Basson MA, Illingworth E, Scambler P (2009). Great vessel development requires dizygous expression of Chd7 and Tbx1 in pharyngeal ectoderm. MECHANISMS OF DEVELOPMENT, 126, S131 - S131. doi:10.1016/j.mod.2009.06.264
    • Papangeli I, Van Bueren KL, Pearce K, Roberts C, Szumska D, Bhattacharya S, Scambler PJ (2009). Dissecting the embryonic requirement of the Notch pathway gene, Hes1, in the context of DiGeorge syndrome. MECHANISMS OF DEVELOPMENT, 126, S130 - S130. doi:10.1016/j.mod.2009.06.262
    • Aza-Carmona M, Shears DJ, Barca-Tierno V, Belinchon A, ito-Sanz S, del Blanco DG, Argente J, Gracia R, Campos-Barros A, Scambler PJ, Heath KE (2009). Identification of the chondrogenesis related SOX5 and SOX6 transcription factors as SHOX interacting proteins. Hormone Research, 72, 27 - 27.
    • Fulcoli FG, Huynh T, Scambler PJ, Baldini A (2009). Tbx1 regulates the BMP-Smad1 pathway in a transcription independent manner.. PLoS One, 4(6), e6049 - . doi:10.1371/journal.pone.0006049
    • Lammerts van Beuren K, Scambler PJ (2009). FACS-GAL isolation of �-galactosidase expressing cells from mid gestation mouse embryos. Nature Protocols (online), DOI: 10.1038/nprot.2009.164, - .
    • Koziell AB, Waters A, Romio L, Welsh GI, Witherden A, Hussain S, Mathieson PW, Scambler P, Saleem M (2009). NEPHRIN INTERACTS WITH END BINDING PROTEIN-1 AND REGULATES MICROTUBULAR FUNCTION AND CILIAL ASSEMBLY IN PODOCYTES.. PEDIATR NEPHROL, 24(9), 1800 - 1800.
    • Roberts C, van Bueren KL, Scambler P (2009). Genetic interaction of tbx1 with the Notch pathway effector her6 is required for pharyngeal development in the zebrafish. doi:10.1016/j.mod.2009.06.228
    • Cleary JO, Price AN, Thomas DL, Scambler PJ, Kyriakopoulou V, McCue K, Schneider JE, Ordidge RJ, Lythgoe MF (2009). Cardiac phenotyping in ex vivo murine embryos using microMRI. NMR Biomed, , - .
    • Cleary JO, Price AN, Modat M, Thomas DL, Scambler PJ, Kyriakopoulu V, Ordidge RJ, Our-Selin S, Lythgoe MF (2009). Novel phenotyping methods using microMRI. Genetics Research, 91(2), 138 - 138.
    • Lau KD, Diaz V, Burriesci G, Scambler P (2009). Modelling and simulation of the mitral valve under physiological and pathological conditions: a primer study.. International Journal of Artificial Organs, 32(7), 400 - .
    • Calmont A, Ivins S, van Bueren KL, Papangeli I, Kyriakopoulou V, Andrews W, Martin J, Moon A, Illingworth E, Basson A, Scambler P (2009). Tbx1 controls cardiac neural crest cell migration during arch artery development by regulating Gbx2 expression in the pharyngeal ectoderm.
    • Hussain S, Romio L, Saleem M, Mathieson P, Serrano M, Moscat J, Diaz-Meco M, Scambler P, Koziell A (2009). Nephrin deficiency activates NF-kappaB and promotes glomerular injury.. J Am Soc Nephrol, 20(8), 1733 - 1743. doi:10.1681/ASN.2008111219

    2008

    • Lovering R, Scambler P, Hubank M, Apweiler R, Talmud PJ (2008). CARDIOVASCULAR GENE ONTOLOGY INITIATIVE. ATHEROSCLEROSIS SUPP, 9(1), 101 - 101.
    • Pitera JE, Scambler PJ, Woolf AS (2008). Fras1, a basement membrane-associated protein mutated in Fraser syndrome, mediates both the initiation of the mammalian kidney and the integrity of renal glomeruli.. Hum Mol Genet, 17(24), 3953 - 3964. doi:10.1093/hmg/ddn297
    • van Haelst MM, Maiburg M, Baujat G, Jadeja S, Monti E, Bland E, Pearce K, Hennekam RC, Scambler PJ (2008). Molecular study of 33 families with Fraser syndrome new data and mutation review. Am J Med Genet A, 146A(17), 2252 - 2257.
    • Pitera JE, Scambler PJ, Woolf AS (2008). Growth factor rescue of early kidney development in an organ culture model of the Fraser syndrome. Genetical Research, 90(3), 283 - 283.
    • Lovering RC, Dimmer E, Khodiyar VK, Barrell DG, Scambler P, Hubank M, Apweiler R, Talmud PJ (2008). Cardiovascular GO annotation initiative year 1 report: why cardiovascular GO?. Proteomics, 8(10), 1950 - 1953.
    • Calmont A, Ivins S, Roberts C, Van Bueren KL, Lindsay E, Baldini A, Scambler PJ (2008). Gbx2: a modifier of Tbx1 happloinsufficiency phenotype. GENETICAL RESEARCH, 90(3), 288 - 288.
    • Shaw-Smith C, Storer M, Szumska D, Scambler P, Bhattacharya S, Bradley A (2008). Modelling human microdeletion syndromes by chromosome engineering in mice.

    2007

    • van Haelst MM, Scambler PJ, Hennekam RC (2007). Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria. Am.J.Med.Genet.A, 143(24), 3194 - 3203.
    • Jamieson RV, Farrar N, Stewart K, Perveen R, Mihelec M, Carette M, Grigg JR, McAvoy JW, Lovicu FJ, Tam PP, Scambler P, Lloyd IC, Donnai D, Black GC (2007). Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation.. Hum Mutat, 28(10), 968 - 977. doi:10.1002/humu.20545
    • Roberts C, Ivins S, Cook AC, van Buren KL, Baldini A, Scambler PJ (2007). Dissecting DiGeorge syndrome: The interaction between Tbx1 and the retinoic acid pathway. doi:10.1016/j.ydbio.2007.03.138
    • Randall VA, Roberts C, Scambler P (2007). Chd7 mutant mice phenocopy CHARGE and DiGeorge syndromes in the pharyngeal arch region of the developing embryo. doi:10.1016/j.ydbio.2007.03.137
    • Dastjerdi A, Robson L, Walker R, Hadley J, Zhang Z, Rodriguez-Niedenfuhr M, Ataliotis P, Baldini A, Scambler P, Francis-West P (2007). TBx1 regulation of myogenic differentiation in the limb and cranial mesoderm. Dev.Dyn., 236(2), 353 - 363.
    • Sivagnanasundaram S, Fletcher D, Hubank M, Illingworth E, Skuse D, Scambler P (2007). Differential gene expression in the hippocampus of the Df1/+ mice: A model for 22q11.2 deletion syndrome and schizophrenia. Brain Research, 1139, 48 - 59.
    • Beales PL, Bland E, Tobin JL, Bacchelli C, Tuysuz B, Hill J, Rix S, Pearson CG, Kai M, Hartley J, Johnson C, Irving M, Elcioglu N, Winey M, Tada M, Scambler PJ (2007). IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nature Genetics, 39(6), 727 - 729. doi:10.1038/ng2038
    • Sivagnanasundaram S, Fletcher D, Hubank M, Illingworth E, Skuse D, Scambler P (2007). Differential gene expression in the hippocampus of the Df1/+ mice: A model for 22q11.2 deletion syndrome and schizophrenia. Brain Res., 1139, 48 - 59.

    2006

    • Pitera JE, Scambler PJ, Woolf AS (2006). "In vitro rescue of apoptosis-driven metanephric involution in mice lacking the cell signalling protein, Fras1".
    • Paylor R, Glaser B, Mupo A, Ataliotis P, Spencer C, Sobotka A, Sparks C, Choi CH, Oghalai J, Curran S, Murphy KC, Monks S, Williams N, O'Donovan MC, Owen MJ, Scambler PJ, Lindsay E (2006). Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. PROC NATL ACAD SCI U S A, 103(20), 7729 - 7734.
    • Bentham J, Bamforth S, Braganca J, Carballo S, Michell A, Bilski M, Broadbent C, Farthing C, Franklyn A, Schneider J, Adwani S, Devriendt K, Keavney B, Goodskip J, Scambler P, Watkins H, Bhattacharya S (2006). Cited2 haploinsufficiency is associated with congenital heart defects in mouse and man: Introducing the GO-CHD Study.
    • Pitera JE, Scambler PJ, Woolf AS (2006). "Molecular modelling of renal agenesis in a genetically-defined mouse model of human Fraser syndrome".
    • Van Bueren KL, Ivins S, Roberts C, James C, Lindsay E, Baldini A, Scambler P (2006). Identification of potential Tbx1 targets in a mouse model of DiGeorge syndrome.
    • Roberts C, Ivins S, Cook AC, Baldini A, Scambler PJ (2006). Cyp26 genes a1, b1 and c1 are down-regulated in Tbx1 null mice and inhibition of Cyp26 enzyme function produces a phenocopy of DiGeorge syndrome in the chick. HUM MOL GENET, 15(23), 3394 - 3410. doi:10.1093/hmg/ddl416
    • Meshorer E, Yellajoshula D, George E, Scambler PJ, Brown DT, Misteli T (2006). Hyperdynamic plasticity of chromatin proteins in pluripotent embryonic stem cells. DEV CELL, 10(1), 105 - 116.

    2005

    • Hammond P, Hutton TJ, Allanson JE, Buxton B, Campbell LE, Smith JC, Donnai D, Karmiloff-Smith AK, Metcalfe K, Murphy KC, Patton M, Pober B, Prescott K, Scambler P, Shaw A, Smith ACM, Stevens AF, Temple IK, Hennekam R, Tassabehji M (2005). Discriminating power of localized three-dimensional facial morphology. The American Journal of Human Genetics, 77(6), 999 - 1010. doi:10.1086/498396
    • Prescott K, Devriendt K, Shaw-Smith C, Rickman L, Carter N, Scambler P (2005). A novel 8q11.1 deletion encompassing CHD7 identified by array CGH in a child with multiple anomalies. Journal of Medical Genetics, 42, S63 - S63.
    • Smyth I, Scambler P (2005). The genetics of Fraser syndrome and the blebs mouse mutants. Hum Mol.Genet, 14 Spec No. 2, R269 - R274.
    • van Haelst MM, Hoogeboom JJ, Baujat G, Bruggenwirth HT, Vande Laar I, Coleman K, Rahman N, Niermeijer MF, Drop SL, Scambler PJ (2005). Familial gigantism caused by an NSD1 mutation.. AM J MED GENET A, , - .
    • Ivins S, Lammerts van Beuren K, Roberts C, James C, Lindsay E, Baldini A, Ataliotis P, Scambler PJ (2005). Microarray analysis detects differentially expressed genes in the pharyngeal region of mice lacking Tbx1.. Dev Biol, 285(2), 554 - 569. doi:10.1016/j.ydbio.2005.06.026
    • Ivins S, Lammerts van Beuren K, Roberts C, James C, Lindsay E, Baldini A, Ataliotis P, Scambler PJ (2005). Microarray analysis detects differentially expressed genes in the pharyngeal region of mice lacking Tbx1.. DEV BIOL, 15(285 (2)), 554 - 569.
    • Jadeja S, Smyth I, Pitera JE, Taylor MS, van Haelst M, Bentley E, McGregor L, Hopkins J, Chalepakis G, Philip N, Perez Aytes A, Watt FM, Darling SM, Jackson I, Woolf AS, Scambler PJ (2005). Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs.. Nat Genet, 37(5), 520 - 525. doi:10.1038/ng1549
    • Mills PB, Surtees RAH, Champion MP, Beesley CE, Dalton N, Scambler PJ, Heales SJR, Briddon A, Scheimberg I, Hoffmann GF, Zschocke J, Clayton PT (2005). Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5 '-phosphate oxidase. Human Molecular Genetics, 14(8), 1077 - 1086. doi:10.1093/hmg/ddi120
    • Roberts C, Ivins SM, James CT, Scambler PJ (2005). Retinoic acid down-regulates Tbx1 expression in vivo and in vitro. DEV DYNAM, 232(4), 928 - 938. doi:10.1002/dvdy.20268
    • Heathcote K, Braybrook C, Abushaban L, Guy M, Khetyar ME, Patton MA, Carter ND, Scambler PJ, Syrris P (2005). Common arterial trunk associated with a homeodomain mutation of NKX2.6. Human Molecular Genetics, 14(5), 585 - 593. doi:10.1093/hmg/ddi055
    • Huber C, Dias-Santagata D, Glaser A, O'Sullivan J, Brauner R, Wu K, Xu XS, Pearce K, Wang R, Uzielli MLG, Dagoneau N, Chemaitilly W, Superti-Furga A, Dos Santos H, Megarbane A, Morin G, Gillessen-Kaesbach G, Hennekam R, van der Burgt I, Black GCM, Clayton PE, Read A, Le Merrer M, Scambler PJ, Munnich A, Pan ZQ, Winter R, Cormier-Daire V (2005). Identification of mutations in CUL7 in 3-M syndrome. Nature Genetics, 37(10), 1119 - 1124.
    • Prescott K, Woodfine K, Stubbs P, Super M, Kerr B, Palmer R, Carter NP, Scambler P (2005). A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndrome. Human Genetics, 116(1-2), 83 - 90.
    • Prescott K, Ivins S, Hubank M, Lindsay E, Baldini A, Scambler P (2005). Microarray analysis of the Df1 mouse model of the 22q11 deletion syndrome. Human Genetics, 116(6), 486 - 496.
    • Smart N, Scambler PJ, Riley PR (2005). A rapid and sensitive assay for quantification of siRNA efficiency and specificity.. Biological Procedures Online, 7, 1 - 7.
    • Huber C, Dias-Santagata D, Glaser A, O'Sullivan J, Brauner R, Wu K, Pearce K, Wang R, Giovannucci-Uzielli ML, Dagoneau N, Chemaitilly W, Superti-Furga A, Dos Santos H, Megarbane A, Morin G, Gillissen-Kaesback G, Hennekam RC, Brunner HG, Black GCM, Clayton PE, Read A, Le Merrer M, Scambler PJ, Munnich A, Pan ZQ, Winter R, Cormier-Daire V (2005). A cullin protein is involved in intrauterine and postnatal growth retardation. Identification of CUL7 mutations in the 3-M syndrome.. Nat.Genet., 37, 1119 - 1124.
    • Prescott K, Scambler PJ (2005). Molecular genetics of the velocardiofacial syndrome.. In Murphy KC, Scambler PJ (Ed.), Velocardiofacial syndrome: understanding microdeletion disorders. (pp. - ). : Cambridge University Press.
    • van Bueren KL, Ivins S, Roberts C, James C, Lindsay E, Baldini A, Scambler P (2005). Identification of potential Tbx1 targets in a mouse model of DiGeorge syndrome. MECH DEVELOP, 122, S36 - S36.
    • Ataliotis P, Ivins S, Mohun TJ, Scambler PJ (2005). XTbx1 is a transcriptional activator involved in head and pharyngeal arch development in Xenopus laevis. Developmental Dynamics, 232(4), 979 - 991.
    • Baker K, Baldeweg T, Sivagnanasundaram S, Scambler P, Skuse D (2005). COMT Val(108/158)Met modifies mismatch negativity and cognitive function in 22q11 deletion syndrome. Biological Psychiatry, 58(1), 23 - 31. doi:10.1016/j.biopsych.2005.03.020
    • Hammond P, Hutton TJ, Allanson JE, Buxton B, Campbell LE, Clayton-Smith J, Donnai D, Karmiloff-Smith A, Metcalfe K, Murphy KC, Patton M, Pober B, Prescott K, Scambler P, Shaw A, Smith AC, Stevens AF, Temple IK, Hennekam R, Tassabehji M (2005). Discriminating power of localized three-dimensional facial morphology.. Am J Hum Genet, 77(6), 999 - 1010. doi:10.1086/498396

    2004

    • Jadeja S, van Haelst M, Darling S, McGregor L, Adams R, Scambler P (2004). Fraser syndrome and mouse blebbed mutants. Genetical Research, 84(2), 120 - 120.
    • Scambler PJ, Goodman FR (2004). HOXD13 and Syndactyly. In Epstein CJ, Ericksom RP, Wynshaw-Boris A (Ed.), Inborn Errors of Development. The Molecular Basis of Clinical Disorders and Morphogenesis. (pp. 521 - 528). : Oxford University Press.
    • Roberts C, Ataliotis P, Ivins S, James C, Scambler PJ (2004). Retinoic acid down-regulates Tbx1 expression in both in vivo and in vitro systems. Journal of Medical Genetics, 41, S69 - S69.
    • Prescott K, Woodfine K, Stubbs P, Super M, Kerr B, Palmer R, Carter NP, Scambler P (2004). A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndrome. Journal of Medical Genetics, 41, S68 - S68.
    • Scambler PJ, Jadeja S, Takamiya K, Kostourou V, Adams S, Chalepakis G, Huganir RL, Adams RH (2004). A Direct Functional Link Between the Multi-PDZ Domain Protein GRIP1 and the Fraser Syndrome Protein Fras1. Nature Genetics, 36(2), 172 - 177.
    • Chu CS, Rabinowitz YS, Scambler PJ, Graham JM (2004). Genotype-phenotype correlation of mutations in Fras1 with Fraser syndrome patients..
    • Goodman FR, Scambler PJ (2004). HOXD13 and synpolydactyly.. In Epstein CJ, Erickson RP, Wynshaw-Boris A (Ed.), Inborn Errors of Development. The Molecular Basis of Clinical Disorders of Morphogenesis. (pp. 521 - 528). : Oxford University Press.
    • Woolf AS, Price KL, Scambler PJ, Winyard PJ (2004). Evolving concepts in human renal dysplasia. Journal of the American Society of Nephrology, 15(4), 998 - 1007.
    • Baker K, Baldeweg I, Siva S, Scambler P, Skuse D (2004). Mismatch negativity in 22q11 deletion syndrome - Evidence for psychosis-like developmental disruption.
    • Risebro CA, Hill AA, Scambler PJR, P R (2004). Generating a tet-inducible knock-out of the bHLH transcription factor Hand1 to study its role in cardiac morphogenesis..

    2003

    • Hoskins B, Holden M, Taffinder S, Norbury G, Jones R, Van't Hoff W, Pandya P, Winter RM, Scambler PJ, Beales PL (2003). Molecular disease confirmation in a case of Bardet-Biedl syndrome, prenatal diagnosis in a sibling and segregation of genitourinary malformations in unaffected relatives with heterozygous mutation..
    • Scambler PJ (2003). Velocardiofacial/DiGeorge syndrome. In Cooper D (Ed.), Nature Encyclopedia of the Human Genome (pp. - ). : Macmillan.
    • Lemonde HA, Custard EJ, Bouquet J, Duran M, Overmars H, Scambler PJ, Clayton PT (2003). Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy. Gut, 52(10), 1494 - 1499. doi:10.1136/gut.52.10.1494
    • McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C, Smart N, Rutland P, Prescott N, Hopkins J, Bentley E, Shaw A, Roberts E, Mueller R, Jadeja S, Philip N, Nelson J, Francannet C, Perez-Aytes A, Megarbane A, Kerr B, Wainwright B, Woolf AS, Winter RM, Scambler PJ (2003). Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. NAT GENET, 34(2), 203 - 208.
    • Bacchelli C, Wilson LC, Cook JA, Winter RM, Scambler PJ, Goodman FR (2003). ROR2 is mutated in hereditary brachydactyly with nail dysplasia, but not in Sorsby syndrome. Clinical Genetics, 64, 263 - 265.
    • Goodman FR, Scambler PJ (2003). Synpolydactyly. In Epstein CJ, Erickson RP, Wynshaw-Boris A (Ed.), Molecular Basis of Inborn Errors of Development (pp. - ). : Oxford University Press.
    • Caronia G, Goodman FR, McKeown CME, Scambler PJ, Zappavigna V (2003). Erratum: An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function (Development (2003) vol. 130 (1701-1712)). Development, 130(10), 2289 - 2289.
    • Scambler P, Jadeja S, McGregor L, Darling S, van Haelst M, Chalepakis G, Vrontou S, Makela V, Winter R (2003). A novel family of extracellular matrix proteins implicated in Fraser syndrome and the mouse blebbing mutants..
    • Beales P, Ansley SJ, Hoskins BE, Badano JL, Ross A, Eichers ER, Hill J, Lewis RA, Scambler PJ, Davidson WS, Katsanis N, Lupski JR (2003). Bridging the gap between monogenic and multifactorial disease: the Bardet-Biedl syndrome.
    • Hoskins BE, Thorn A, Scambler PJ, Beales PL (2003). Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique. Human Mutation, 22(2), 151 - 157.
    • Beales PL, Badano JL, Ross AJ, Ansley SJ, Hoskins BE, Kirsten B, Mein CA, Froguel P, Scambler PJ, Lewis RA, Lupski JR, Katsanis N (2003). Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. The American Journal of Human Genetics, 72(5), 1187 - 1199.
    • Caronia G, Goodman FR, McKeown CME, Scambler PJ, Zappavigna V (2003). An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function. Development, 130, 1701 - 1712.
    • Morgan NV, Bacchelli C, Gissen P, Morton J, Ferrero GB, Silengo M, Labrune P, Casteels I, Hall C, Cox P, Kelly DA, Trembath RC, Scambler PJ, Maher ER, Goodman FR, Johnson CA (2003). A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13. Journal of Medical Genetics, 40, 431 - 435.
    • Scambler PJ (2003). SHOX (Short stature homeobox gene. In (Ed.), The Encyclopaedia of Molecular Medicine (pp. - ). : Wiley.
    • Stalmans I, Lambrechts D, De Smet F, Jansen S, Wang J, Maity S, Kneer P, der Ohe M, Swillen A, Maes C, Gewillig M, Molin DG, Hellings P, Boetel T, Haardt M, Compernolle V, Dewerchin M, Plaisance S, Vlietinck R, Emanuel B, Gittenberger-de Groot AC, Scambler PJ, Morrow B, Driscol DA, Moons L, Esguerra CV, Carmeliet G, Behn-Krappa A, Devriendt K, Collen D, Conway SJ, Carmeliet P (2003). VEGF: a modifier of the del22q11 (DiGeorge) syndrome?. Nature Medicine, 9(2), 173 - 182.
    • Vrontou S, Petrou P, Meyer BI, Galanopoulos VK, Imai K, Yanagi M, Chowdhury K, Scambler PJ, Chalepakis G (2003). Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice. Nature Genetics, 34, 209 - 214.
    • Baker KD, Baldeweg T, Scambler P, Skuse DH (2003). 22q11 deletion syndrome: A search for clues to the origins of schizophrenia. Journal of Neurology, Neurosurgery and Psychiatry, 74(6), 834 - .
    • Ross AJ, Hoskins BE, Scambler PJ, Beales PL (2003). Haplotype analysis of the M390R mutation within BBS1, the most common locus for Bardet-Biedl syndrome.

    2002

    • Hoskins BE, Scambler PJ, Beales PL (2002). Multiplex capillary heteroduplex analysis (MCHA): A rapid and sensitive method for detection of mutations in Bardet-Biedl syndrome genes..
    • Morgan NV, Bacchelli C, Silengo M, Tuerlings JH, Wilson LC, Brueton LA, Maher ER, Trembath RC, Scambler PJ, Goodman FR, Johnson CA (2002). Exclusion of candidate loci and autozygosity mapping of Jeune asphyxiating thoracic dystrophy..
    • (2002). Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation. American Journal of Medical Genetics Part A, 110(2), 153 - 157.
    • Innis JW, Goodman FR, Bacchelli C, Williams TM, Mortlock DP, Sateesh P, Scambler PJ, McKinnon W, Guttmacher AE (2002). A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome Communicated by Gregg Semenza Online Citation: Human Mutation, Mutation in Brief #507 (2001) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/507.pdf. Hum.Mutat., 19(5), 573 - 574.
    • (2002). Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic sundrome advocate a functional inter-relationship in glomerular filtration. Human Molecular Genetics, 11(4), 379 - 388.
    • (2002). Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p. Journal of Molecular Medicine, 80(7), 431 - 442.
    • (2002). Targeted mutagenesis of the Hira gene results in gastrulation defects and patterning abnormalities of mesoendodermal derivatives prior to early embryonic lethality. Molecular and Cellular Biology, 22(7), 2318 - 2328.
    • Smart N, Hill AA, Scambler PJR, P R (2002). Identification of Thymosin beta4 as a putative effector of Hand1-mediated cardiac morphogenesis..
    • Koziell AB, Grech V, Hussain S, Lee G, Lenkkeri U, Tryggvason K;, Scambler P; (2002). Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional interrelationship in glomerular filtration.. Hum.Mol.Genet., 11, 378 - 388.
    • Bacchelli C, Morgan NV, Silengo M, Tuerlings JH, Wilson LC, Scambler PJ, Brueton LA, Maher ER, Johnson CA, Goodman FR (2002). A linkage study of Jeune syndrome: exclusion of candidate loci and autozygosity mapping.
    • Katsanis N, Ansley SJ, Badano JL, Eichers ER, Lewis RA, Hoskins B, Scambler PJ, Davidson WS, Beales PL, Lupski JR (2002). Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder..
    • Goodman FR, Majewski F, Collins AL, Scambler PJ (2002). A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly. The American Journal of Human Genetics, 70(2), 547 - 555. doi:10.1086/338921
    • (2002). A HOXA13 allele with a missense mutation in the homebox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome. Human Genetics, 19(5), 573 - 574.
    • (2002). BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. The American Journal of Human Genetics, 71(1), 22 - 29.
    • Scambler PJ, Ivins S, Ataliotis P, Prescott K, Latinkic B, Mohun T, Lindsay E, Pramparo T, Baldini A (2002). 22q11 deletion syndrome and the role of the TBX1 transcription.
    • (2002). Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13. Journal of Medical Genetics, 39(11), 852 - 856.

    2001

    • Shears D, Guillen-Navarro E, Sempere-Miralles M, Domingo-Jimenez R, Scambler PJ, Winter RM (2001). Langer mesomelic dysplasia and Leri-Weill dyschondrosteosis - novel SHOX mutations and clinical phenotypic spectrum. Journal of Medical Genetics, 38, 122 - .
    • (2001). Severe digital abnormalities in a patient heterozygous for mutations in both HOXD13 and HOXA13. Journal of Medical Genetics, 38, 65 - .
    • Pitera JE, Milla PJ, Scambler P, Adjaye J (2001). Cloning of HOXD1 from unfertilised human oocytes and expression analyses during murine oogenesis and embryogenesis.. Mech Dev, 109(2), 377 - 381.
    • (2001). Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science, 293(5538), 2256 - 2259. doi:10.1126/science.1063525
    • Bacchelli C, Goodman FR, Debeer P, Fryns JP, Scambler PJ (2001). Severe digital abnormalities in a patient heterozygous for mutations in both HOXD13 and HOXA13. J MED GENET, 38, S65 - S65.
    • (2001). Cenani-Lenz syndrome with renal hypoplasia is not linked to FORMIN or GREMLIN. Clinical Genetics, 59, 203 - 205.
    • Katsanis N, Ansley SJ, Badano JL, Eichers ER, Lewis RA, Hoskins B, Scambler PJ, Davidson WS, Beales PL, Lupski JR (2001). Triallelic inheritance in Bardet-Biedl syndrome, a recessive, genetically heterogeneous, and pleiotropic disorder.. AM J HUM GENET, 69(4), 226 - 226.
    • Lindsay EA, Vitelli F, Su H, Morishima M, Huynh T, Pramparo T, Jurecic V, Ogunrinu G, Sutherland HF, Scambler PJ, Bradley A, Baldini A (2001). Tbx1 haploinsufficiency identified by functional scanning of the DiGeorge syndrome region is the cause of aortic arch defects in mice.. Nature, 401, 97 - 101.
    • Katsanis N, Ansley SJ, Badano JL, Eichers ER, Lewis RA, Scambler PJ, Davidson WS, Beales PL, Lupski JR (2001). Evidence for triallelic inheritance in Bardet-Biedl syndrome, a recessive, genetically heterogeneous and pleiotropic disorder.. Science, 293, 2256 - 2259.
    • (2001). Cloning of the HoxD1 from unfertilised human oocytes and expression analyses during oogenesis and embryogenesis. Mechanisms of Development, 109, 377 - 381.
    • (2001). TBX1 is responsible for cardiovascular defects in Velo-Cardio-Facial/DiGeorge syndrome. Cell, 104(4), 619 - 629.
    • Lindsay EA, Vitelli F, Su H, Morishima M, Huynh T, Pramparo T, Jurecic V, Ogunirinu G, Sutherland HF, Scambler PJ, Bradley A, Baldini A (2001). Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. Nature, 401(6824), 97 - 101. doi:10.1038/35065105
    • (2001). Human HOX gene mutations. Clinical Genetics, 59, 1 - 11.
    • (2001). An amino acid substitution in the HOXD13 homeodomain causes a novel brachydactyly-polydactyly syndrome. European Journal of Human Genetics, 7, 179 - .
    • (2001). Replication and extension studies of inflammatory bowel disease susceptibility regions confirm linkage to chromosome 6p (IBD3). European Journal of Human Genetics, 9(8), 627 - 633.
    • Dechairo BM, Lench N, van Heel D, Edwards M, Scambler PJ, Jewell DP, Carey AH (2001). A two-stage association study between inflammatory bowel disease and polymorphisms spanning GNAI2.
    • Williams HJ, Khazanehadari K, Sutherland H, Murphy KC, Jones S, McCarthy GS, Jones G, Zammit S, Cardno A, Scambler PJ, O'Donovan MC, Owen MJ (2001). Association analysis of TBX1 and schizophrenia.
    • Shears D, Guillen-Navarro E, Sempere-Miralles M, Domingo-Jimenez R, Scambler PJ, Winter RM (2001). Langer mesomelic dysplasia and Leri-Weill dyschondrosteosis - novel SHOX mutations and clinical phenotypic spectrum. J MED GENET, 38, S36 - S36.
    • Dechairo B, Dimon C, van Heel D, Mackay I, Edwards M, Scambler P, Jewell D, Cardon L, Lench N, Carey A (2001). Replication and extension studies of inflammatory bowel disease susceptibility regions confirm linkage to chromosome 6p (IBD3). EUR J HUM GENET, 9(8), 627 - 633.
    • Ataliotis P, Latinkic B, Mohun TJ, Scambler PJ (2001). Analysis of Tbx1 function in Xenopus laevis.. DEV BIOL, 235(1), 245 - 245.
    • (2001). A ROR2 mutation in a family with hereditay brachydactyly with nail dysplasia. European Journal of Human Genetics, 9, 177 - .
    • Dechairo BM, Lench N, van Heel D, Edwards M, Scambler P, Jewell DP, Carey AH (2001). A two-stage association study between inflammatory bowel disease and polymorphisms spanning GNAI2.. AM J HUM GENET, 69(4), 565 - 565.

    2000

    • Koziell A, Charmandari E, Hindmarsh PC, Rees L, Scambler P, Brook CGD (2000). Erratum: Frasier syndrome, part of the denys drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy? (Clinical Endocrinology (519-54)). Clinical Endocrinology, 52(6), 801 - 801. doi:10.1046/j.1365-2265.2000.052006801.x
    • Muenke M, Hagan DM, Ross AJ, Strachan T, Lynch SA, Ruiz-Perez V, Wang YM, Scambler P (2000). Erratum: Mutation analysis and embryonic expression of the HLXB9 Currarino sundrome gene (American Journal of Human Genetics (2000) 66 (769)). American Journal of Human Genetics, 67(3), 769 - 769. doi:10.1086/303062
    • Merscher S, Russell R, Funke B, Factor S, Xu H, Lopez M, Puech A, St Jore B, Sirotkin H, Heyer J, Scambler P, Wynshaw-Boris T, Morrow B, Skoultchi A, Kucherlapati R (2000). Molecular dissection of velo-cardio-facial syndrome using mouse models. The American Journal of Human Genetics, 67(4), 2111 - .
    • Goodman FR, Bacchelli C, Brady AF, Brueton LA, Fryns JP, Martlock DP, Innis J, Holmes LB, Donnenefeld AE, Feingold M, Beemer F, Hennekam RC, Scambler P (2000). Novel HOXA 13 mutations and the phenotypic spectrum of Hand-foot-genital Syndrome. The American Journal of Human Genetics, 67, 197 - 202.
    • Bird LM, Scambler P (2000). Cortical dysgenesis in 2 patients with chromosome 22q11 deletion. Clinical Genetics, 58(1), 64 - 68.
    • Scambler PJ (2000). The 22q11 deletion syndromes. Human Molecular Genetics, 9, 2421 - 2426.
    • Hagan DM, Ross AJ, Strachan T, Ruiz-Perez V, Lynch SA, Wang YM, Scambler P, Custard E, Reardon W, Muenke M, Nixon P, Papapetrou C, Winter RM, Edwards Y, Morrison K, Barrow M, Cordier-Alex MP, Correia P, Gaskill S, Garcia-Minaur S, Gereige R, Hayward R, Homfray T, McKeown C, Murday V, Plauchu H, Shannon N, Spitz L, Lindsay S (2000). Mutational analysis indicates that the hereditary sacral agenesis gene, HLXB9, i s the sole locus for Currarino Triad and different mutation classes produce equivalent phenotypes.. Am.J.Hum.Genet., 66, 1504 - 1515.
    • Bacchelli C, Goodman FR, Scambler PJ, Winter RM (2000). Cenani-Lenz syndrome with renal hypoplasia is not caused by mutations in FORMIN or GREMLIN. J MED GENET, 37, S78 - S78.
    • Robertson SP, Shears DJ, Oei P, Winter RM, Scambler PJ, Aftimos S (2000). Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia. Journal of Medical Genetics, 37(12), 959 - 964.
    • Hagan DM, Ross AJ, Strachan T, Lynch SA, Ruiz-Perez V, Wang YM, Scambler P, Custard E, Reardon W, Hassan S, Muenke M, Nixon P, Papapetrou C, Winter RM, Edwards Y, Morrison K, Barrow M, Cordier-Alex MP, Correia P, Galvin-Parton PA, Gaskill S, Gaskin KJ, Garcia-Minaur S, Gereige R, Hayward R, Homfray T, Mckeown C, Murday V, Plauchu H, Shannon N, Spitz L, Lindsay S (2000). Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene. The American Journal of Human Genetics, 66(5), 1504 - 1515.
    • Hagan DM, Ross AJ, Strachan T, Ruiz-Perez V, Lynch SA, Wang YM, Scambler P, Custard E, Reardon W, Muenke M, Nixon P, Papapetrou C, Winter R, Edwards YH (2000). Extended mutational analysis and embryonic expression of the hereditary sacral agenesis gene HLXB9. The American Journal of Human Genetics, 66, 1504 - 1515.
    • Koziell A, Charmandari E, Hindmarsh PC, Rees L, Scambler P, Brook CG (2000). Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy?. Clinical Endocrinology, 52(4), 519 - 524.
    • Berend SA, Spikes AS, Kashork CD, Wu JM, Daw SC, Scambler PJ, Shaffer LG (2000). Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci.. Am J Med Genet, 91(4), 313 - 317.
    • Hagan DM, Ross AJ, Strachan T, Lynch SA, Ruiz-Perez V, Wang YM, Scambler P, Custard E, Reardon W, Hassan S, Muenke M, Nixon P, Papapetrou C, Winter RM, Edwards Y, Morrison K, Barrow M, Cordier-Alex MP, Correia P, Galvin-Parton PA, Gaskill S, Gaskin KJ, Garcia-Minaur S, Gereige R, Hayward R, Homfray T, McKeown C, Murday V, Plauchu H, Shannon N, Spitz L, Lindsay S (2000). Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene. AM J HUM GENET, 66(5), 1504 - 1515.
    • Hagan DM, Ross AJ, Strachan T, Lynch SA, Ruiz-Perez V, Wang YM, Scambler P (2000). Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene (vol 66, pg 1504, 2000). AM J HUM GENET, 67(3), 769 - 769.
    • Dechairo BM, Lench N, van Heel D, Edwards M, Scambler P, Jewell DP, Carey AH (2000). A replication study of the inflammatory bowel disease region on 6p.. AM J HUM GENET, 67(4), 355 - 355.
    • Merscher S, Russell R, Funke B, Factor S, Xu H, Lopez M, Puech A, St Jore B, Sirotkin H, Heyer J, Scambler P, Wynshaw-Boris T, Morrow B, Skoultchi A, Kucherlapati R (2000). Molecular dissection of velo-cardio-facial syndrome using mouse models.. AM J HUM GENET, 67(4), 377 - 377.

    1999

    • Esch HV, Daw S, Pofijn A, Groenen P, Holvoet M, Scambler P, Fryns JP, Van de Ven W, Devriendt K (1999). Partial DiGeorge syndrome in two patients with a 10p rearrangement. CLIN GENET, 15, 269 - 276.
    • Seroussi E, Kedra D, Pan HQ, Peyrard M, Schwartz C, Scambler P, Donnai D, Roe BA, Dumanski J (1999). Analysis of duplications on chromosome 22 reveals a novel Ret finger protein like (RFPL) gene family with sense and endogenous antisense transcripts.. Genome Res., 9, 803 - 814.
    • Seroussi E, Kedra D, Pan HQ, Peyrard M, Schwartz C, Scambler P, Donnai D, Roe BA, Dumanski JP (1999). Duplications on human chromosome 22 reveal a novel Ret Finger Protein-like gene family with sense and endogenous antisense transcripts.. Genome Res, 9(9), 803 - 814.
    • Shears D, Robertson SP, Aftimos S, Savarirayan R, Winter RM, Scambler PJ (1999). Homozygous SHOX deletions in a mentally retarded male with Langer mesomelic dysplasia. J MED GENET, 36, S24 - S24.
    • Lohman FP, Lui V, Snoeren S, Scambler P, Grosveld F, Meijers C (1999). The product of the Hira gene, a potential chromatin factor, is required for early mammalian differentiation and proliferation.. AM J HUM GENET, 65(4), A333 - A333.
    • Goodman FR, Majewski F, Winter RM, Scambler PJ (1999). Haploinsufficiency for HOXD8-HOXD13 and EVX2 causes atypical synpolydactyly.. AM J HUM GENET, 65(4), A298 - A298.
    • Wang J, Spitz L, Hayward R, Kiely E, Hall CM, O'Donoghue DP, Palmer R, Goodman FR, Scambler PJ, Winter RM, Reardon W (1999). Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families.. Eur J Pediatr, 158(11), 902 - 905.
    • Wadey R, McKie J, Papapetrou C, Sutherland H, Lohman F, Osinga J, Frohn I, Hofstra R, Meijers C, Amati F, Conti E, Pizzuti A, Dallapiccola B, Novelli G, Scambler P (1999). Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11.. Am J Hum Genet, 65(1), 247 - 249. doi:10.1086/302468
    • Koziell AB, Grundy R, Barratt TM, Scambler P (1999). Evidence for the genetic heterogeneity of nephropathic phenotypes associated with Denys-Drash and Frasier syndromes. The American Journal of Human Genetics, 64, 1778 - 1781.
    • Scambler P, Sutherland II, Hyashaw-Boris A, Magnagh P, McKie J, Meijers C, Roberts C, Kmber W (1999). Attempts to understand the molecular and developmental basis of VCFS and DCS. Genetic Counseling, 10(1), 105 - 105.
    • Goodman FR, Majewski F, Winter RM, Scambler PJ (1999). Haploinsufficiency for HOXD8-HOXD13 and EVX2 causes atypical synpolydactyly. The American Journal of Human Genetics, 65(4 SS), 1675 - .
    • Wadey R, McKie J, Papapetrou C, Sutherland H, Lohman F, Osinga J, Frohn I, Hofstra R, Meijers C, Amati F, Conti E, Pizzuti A, Dallapiccola B, Novelli G, Scambler PJ (1999). Mutations of UFD1L are not responsible for the majority of cases of DGS/VCFS without deletions within chromosome 22q11.. Am.J.Hum.Genet., 65, 247 - 249.
    • Koziell A, Barratt TM, Grundy RG, Scambler PJ (1999). Evidence for the genetic heterogeneity of Denys Drash and Frasier nephropathy.. Am.J.Hum.Genet., 64, 1778 - 1781.
    • Scambler PJ (1999). The molecular genetics of DiGeorge syndrome.
    • Farrell M, Stadt H, Scambler PJ, Wolfe R, Leatherbury L, Kirby M (1999). Persistent truncus arteriosus is associated with decreased expression of HIRA by cardiac neural crest cells in chick embryos. Circulation Research, 84, 127 - 135.
    • Kimber W, Hseih P, Hirotsune S, Yuva-Paylor L, Sutherland HS, Chen A, Ruiz-Lozano P, Liyanage M, Hoogstraten-Miller S, Chien K, Paylor R, Scambler PJ, Wynshaw-Boris A (1999). Deletion of 150kb in the minimal DiGeorge/velocardiofacial syndrome critical region in mouse. Human Molecular Genetics, 12, 2229 - 2237.
    • Farrell MJ, Stadt H, Wallis KT, Scambler P, Hixon RL, Wolfe R, Leatherbury L, Kirby ML (1999). HIRA, a DiGeorge syndrome candidate gene, is required for cardiac outflow tract septation. Circulation Research, 84, 127 - 135.
    • Lohman FP, Lui V, Snoeren S, Scambler P, Grosveld F, Meijers C (1999). The product of the Hira gene, a potential chromatin factor, is required for early mammalian differentiation and proliferation. The American Journal of Human Genetics, 65(4 SS), 1875 - .
    • Scambler PJ (1999). Engineering a broken heart (News and Views). Nature, 401, 335 - 337.
    • Scambler PJ (1999). Genetics - Engineering a broken heart. Nature, 401(6751), 335 - 337.
    • Koziell A, Grech V, Lenkkeri U, Trygvasson K, Scambler P (1999). Nephrin mutations in Congenital Nephrotic Syndrome: further evidence for a critical role in the pathogenesis of proteinuria. J MED GENET, 36, S20 - S20.

    1998

    • Llevadot R, Pritchard M, Scambler P (1998). Isolation of the Drosophila HIRA gene and comparison with the HIRA family. EUR J HUM GENET, 6, 149 - 149.
    • Scambler PJ (1998). Hemizygosity of chromosome 22q11 and human birth defects. In Hallen M (Ed.), Human Genome Analysis (pp. 463 - 474). : IOS Press.
    • Scambler P, Roberts C, Sutherland H, Kimber W, Lui V, Halford S, McKie J, Snoeren CAS, Lohman F, Meijers C, Wynshaw-Boris A (1998). Hira, a gene from the DGS/VCFS region, is required for normal embryogenesis.. Am.J.Hum.Genet., 63, A7 - .
    • Guasch RM, Scambler P, Jones GE, Ridley AJ (1998). RhoE regulates actin cytoskeleton organization and cell migration. Molecular and Cellular Biology, 18, 4761 - 4771.
    • Llevadot R, Marques G, Pritchard M, Estivill X, Ferrus A, Scambler P (1998). Cloning, chromosome mapping and expression analysis of the HIRA gene from Drosophila melanogaster .. BBRC, 249, 486 - 491.
    • Lindsay EA, Harvey EL, Scambler PJ, Baldini A (1998). ES2, a gene deleted in DiGeorge syndrome, encodes a nuclear protein and is expressed during early mouse development, where it shares an expression domain with a Goosecoid-like gene.. Hum Mol Genet, 7(4), 629 - 635.
    • Shears DJ, Vassal HJ, Goodman FR, Palmer RW, Reardon W, Superti-Furga A, Scambler PJ, Winter RM (1998). Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis.. Nat Genet, 19(1), 70 - 73. doi:10.1038/ng0198-70
    • Matsuoka R, Kimura M, Scambler PJ, Morrow BE, Imamura S, Minoshima S, Shimizu N, Yamagishi H, Joh-o K, Watanabe S, Oyama K, Saji T, Ando M, Takao A, Momma K (1998). Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome.. Hum Genet, 103(1), 70 - 80.
    • McKie JM, Wadey RB, Sutherland HF, Taylor CL, Scambler PJ (1998). Direct selection of conserved cDNAs from the DiGeorge critical region: isolation of a novel CDC45-like gene.. Genome Res, 8(8), 834 - 841.
    • Magnaghi P, Roberts C, Lorain S, Lipinski M, Scambler PJ (1998). HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3.. Nat Genet, 20(1), 74 - 77. doi:10.1038/1739
    • Goodman F, Giovannucci-Uzielli ML, Hall C, Reardon W, Winter R, Scambler P (1998). Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.. Am J Hum Genet, 63(4), 992 - 1000. doi:10.1086/302070
    • Grundy RG, Pritchard J, Scambler P, Cowell JK (1998). Loss of heterozygosity on chromosome 16 in sporadic Wilms' tumour.. Br J Cancer, 78(9), 1181 - 1187.
    • Sutherland HF, Kim UJ, Scambler PJ (1998). Cloning and comparative mapping of the DiGeorge syndrome critical region in the mouse.. Genomics, 52(1), 37 - 43. doi:10.1006/geno.1998.5414
    • Ross AJ, Ruiz-Perez V, Wang Y, Hagan DM, Scherer S, Lynch SA, Lindsay S, Custard E, Belloni E, Wilson DI, Wadey R, Goodman F, Orstavik KH, Monclair T, Robson S, Reardon W, Burn J, Scambler PJ, Strachan T (1998). A homeobox gene, HLXB9 , is the major locus for dominantly inherited sacral agenesis.. Nature Genetics, 20, 358 - 361.
    • Yan W, Jacobsen LK, Krasnewich DM, Guan XY, Lenane MC, Paul SP, Dalwadi HN, Zhang H, Long RT, Kumra S, Martin BM, Scambler PJ, Trent JM, Sidransky E, Ginns EI, Rapoport JL (1998). Chromosome 22q11.2 interstitial deletions among childhood-onset schizophrenics and "multidimensionally impaired".. Am J Med Genet, 81(1), 41 - 43.
    • Llevadot R, Estivill X, Scambler P, Pritchard LE (1998). Isolation and genomic characterization of the TUPLE1/HIRA gene of the pufferfish Fugu rubripes .. Gene, 208, 279 - 283.
    • Klamt B, Koziell A, Poulat F, Wieacker P, Scambler P, Berta P, Gessler M (1998). Frasier syndrome is caused by defective splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.. Hum.Mol.Genet., 7, 709 - 714.
    • Grundy RG, Pritchard J, Scambler P, Cowell JK (1998). Loss of heterozygosity or the short arm of chromosome 7 in sporadic Wilms tumour.. Oncogene, 17, 395 - 400.
    • Grundy RG, Pritchard J, Scambler P, Cowell JK (1998). Loss of heterozygosity on chromosome 16 in Wilms tumour.. Br.J.Cancer, 78, 1181 - 1187.
    • Goodman FR, Giovannucci-Uzielli ML, Hall C, Reardon W, Winter RM, Scambler PJ (1998). A novel human limb malformation caused by deletions in HOXD13.. Am.J.Hum.Genet., 63, 992 - 1000.
    • Emanuel BS, Budarf BS, Scambler PJ (1998). The Genetic Basis of Conotruncal Heart Defects: The Chromosome 22q11.2 Deletion.. In Rosenthal N, Harvey R (Ed.), Heart Development (pp. 463 - 478). : Academic Press.

    1997

    • Koziell AB, Barratt TM, Grundy R, Scambler P (1997). The Wilms tumour gene (WT1) is not responsible for congenital nephrotic syndrome.. J AM SOC NEPHROL, 8, A1809 - A1809.
    • McKie JM, Sutherland HF, Harvey E, Kim UJ, Scambler PJ (1997). A human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11.. Hum Genet, 101(1), 6 - 12.
    • Taylor C, Wadey R, O'Donnell H, Roberts C, Mattei MG, Kimber WL, Wynshaw-Boris A, Scambler PJ (1997). Cloning and mapping of murine Dgcr2 and its homology to the Sez-12 seizure-related protein.. Mamm Genome, 8(5), 371 - 375.
    • Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Siedel H, Schuffenhauer S, Oechsler H, Belohradsky B, Priur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, Mckeown C, Bemer FA, Dallapiccola B, Novelli G, Hurst J, Ignatius J, Green AJ, Winter RM, Breuton L, Brondum-Neilsen K, Stewart F, Van Essen T, Patton M, Patterson J, Scambler PJ (1997). Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. Journal of Medical Genetics, 34(10), 798 - 804.
    • Carlson C, Sirotkin H, Pandita R, Goldberg R, McKie J, Wadey R, Patanjali S, Weissman S, Anyane-Yeboa K, Warburton D, Scambler P, Shprintzen R, Kucherlapati R, Morrow B (1997). Molecular definition of 22q11 deletions in 151 VCFS patients: integration within a 10kb physical map. The American Journal of Human Genetics, 61(3), 620 - 629.
    • Dixon J, Edwards SJ, Anderson I, Brass A, Scambler PJ, Dixon MJ (1997). Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene. Research Genetics, 7, 223 - 234.
    • Goodman FR, Mundlos S, Muragaki Y, Donnai D, Giovannucci-Uzielli ML, Lapi E, Majewski F, McGraughran J, Mckeown C, Reardon W, Upton J, Winter RM, Olsen BR, Scambler PJ (1997). Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. Proceedings of the National Academy of Sciences of the United States of America, 94, 7458 - 7463.
    • O'Donnell H, Mckeown C, Gould C, Morrow B, Scambler P (1997). Detection of a deletion within 22q11 which has no overlap with the DiGeorge syndrome critical region. The American Journal of Human Genetics, 60, 1544 - 1548.
    • Roberts C, Daw S, Halford S, Scambler PJ (1997). Cloning and Developmental Expression Analysis of Chick Hira, a candidate gene for DiGeorge syndrome. Human Molecular Genetics, 6, 237 - 246.
    • Sirotkin H, O'Donnell H, DasGupta R, Halford S, St P, A P, S M, B S, A W, S M S, P K, R (1997). Identification of a new catenin gene family member from the region deleted in velo-cardio-facial syndrome. Genomics, 41, 75 - 83.
    • Taylor C, Wadey R, O'Donnell H, Roberts C, Mattei MG, Kimber WL, Wynshaw-Boris A, Scambler PJ (1997). Cloning and mapping of murine Idd: conserved synteny of the DiGeorge syndrome critical region. Mammalian Genome, 8, 371 - 375.
    • Scambler PJ (1997). Positional cloning and analysis of loci implicated in human birth defects.. In Thorogood P (Ed.), Embryos, Genes and Birth Defects. (pp. 33 - 48). : John Wiley.
    • Carlson C, Sirotkin H, Pandita R, Goldberg R, McKie J, Wadey R, Patanjali SR, Weissman SM, Anyane-Yeboa K, Warburton D, Scambler P, Shprintzen R, Kucherlapati R, Morrow BE (1997). Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am.J.Hum.Genet., 61(3), 620 - 629.
    • Goodman F, GiovannucciUzielli ML, Reardon W, Winter RM, Scambler PJ (1997). Novel limb phenotype segregating with deletions in HOXD13. J MED GENET, 34, SP41 - SP41.
    • Sutherland HF, Kim UJ, Kimber WL, Wynshaw-Boris A, Scambler PJ (1997). Comparative mapping of Hu22q11 and the conserved syntenic region of MMU16 reveals disruption to linkage conservation.. AM J HUM GENET, 61(4), A245 - A245.
    • Kimber WL, Hirotsune S, Sutherland HF, Pack S, Garrett L, Chen A, Scambler PJ, Wynshaw-Boris A (1997). Using mouse models for understanding the genetic basis of human 22q11 microdeletion syndromes.. AM J HUM GENET, 61(4), A155 - A155.
    • Goodman FR, Giovannucci-Uzielli ML, Reardon W, Winter RM, Scambler PJ (1997). A novel inherited human limb malformation caused by deletions in HOXD13.. AM J HUM GENET, 61(4), A153 - A153.
    • Farrell MJ, Stadt H, Wallis K, Kumiski D, Scambler P, Kirby ML (1997). Functional attenuation in cardiac neural crest of HIRA or ARV results in persistent truncus arteriosis. MOL BIOL CELL, 8, 2558 - 2558.
    • O'Donnell H, McKeown C, Gould C, Morrow B, Scambler P (1997). Detection of an atypical 22q11 deletion that has no overlap with the DiGeorge syndrome critical region.. Am J Hum Genet, 60(6), 1544 - 1548. doi:10.1016/S0002-9297(07)64250-5

    1996

    • Lindsay EA, Rizzu P, Antonacci R, Jurecic V, Delmas-Mata J, Lee CC, Kim UJ, Scambler PJ, Baldini A (1996). A transcription map in the CATCH22 critical region.. Genomics, 32, 104 - 112.
    • O'Donnell H, Morgan G, Scambler PJ (1996). An 8;22 balanced translocation associated with profound B-cell immunodeficiency.. Eur.J.Hum.Genet., 4, 28 - .
    • Pizzuti A, Novelli G, Mari A, Ratti A, Colosimo A, Amati F, Penso D, Sangiulo F, Calabrese G, Giandomenico P, Silani V, Gennarelli M, Mingarelli R, Scarlato G, Scambler P, Dallapiccola B (1996). Human homolog sequences to the Drosophila dishevelled polarity gene are deleted in the DiGeorge syndrome.. Am.J.Hum.Genet., 58, 722 - 729.
    • Rizzu P, Lindsay EA, Taylor C, O'Donnell H, Scambler PJ, Baldini A (1996). Cloning and comparative mapping of a gene deleted in DiGeorge and velocardiofacial syndromes conserved in the C.elegans genome.. Mammalian Genome, 7, 639 - 643.
    • Daw SCM, Taylor C, Kraman M, Call K, Mao J, Meitinger T, Lipson A, Goodship J, Scambler PJ (1996). A common region of 10p deleted in DiGeorge and velo-cardio-facial syndrome.. Nature Genetics, 13, 458 - 460.
    • Hixon RL, Leatherbury L, Scambler PJ, Wolfe RR, Stadt HA, Kirby ML (1996). Morphologic and hemodynamic assessment of the TUPLE1 gene-attenuated embryos.. American Society of Pediatrics, Boston, MA, - .
    • Daniels JK, Williams NM, Williams J, Jones LA, Cardno AG, Murphy KC, Scott L, Spurlock G, Riley B, Scambler P, Asherson P, McGuffin P, Owen MJ (1996). No evidence for allelic association between schizophrenia and a polymorphism determining high or low catechol-O-methyl transferase activity.. Am.J.Psychiatry., 153, 268 - 270.
    • Llevadot R, Scambler P, Estivill X, Pritchard M (1996). Genomic organization of TUPLE1/HIRA: a gene implicated in DiGeorge syndrome.. Mamm Genome, 7(12), 911 - 914.
    • Rizzu P, Lindsay EA, Taylor C, O'Donnell H, Levy A, Scambler P, Baldini A (1996). Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and Velocardiofacial syndromes conserved in C. elegans.. Mamm Genome, 7(9), 639 - 643.
    • Hixon RL, Leatherbury L, Scambler P, Wolfe RR, Stadt HA, Kirby ML (1996). Morphologic and hemodynamic assessment of TUPLE 1 gene attenuated chick embryos.. PEDIATRICS, 98(3), 34 - 34.
    • Sutherland HF, Wadey R, McKie JM, Taylor C, Atif U, Johnstone KA, Halford S, Kim UJ, Goodship J, Baldini A, Scambler PJ (1996). Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome.. Am J Hum Genet, 59(1), 23 - 31.
    • Lindsay EA, Rizzu P, Antonacci R, Jurecic V, Delmas-Mata J, Lee CC, Kim UJ, Scambler PJ, Baldini A (1996). A transcription map in the CATCH22 critical region: identification, mapping, and ordering of four novel transcripts expressed in heart.. Genomics, 32(1), 104 - 112. doi:10.1006/geno.1996.0082
    • Llevadot R, Scambler PJ, Estivill X, Pritchard M (1996). Genomic organization of TUPLE1/HIRA: Alternative splice products of the same gene. Mammalian Genome, 7, 911 - 914.
    • Hoyle J, Yulug IG, Johnstone K, Scambler PJ, Fisher EM (1996). Characterisation of a short interspersed repeat (Mermaid) that has family members on human chromosome 21 and elsewhere in the human genome.. Hum Genet, 97(1), 117 - 120.
    • McKie J, Scambler PJ (1996). The Nfe2l1 gene maps to distal mouse chromosome 11.. Mamm Genome, 7(1), 89 - .

    1995

    • LINDSAY EA, RIZZU P, ANTONACCI R, JURECIC V, DELMASMATA J, KIM UJ, SCAMBLER P, BALDINI A (1995). VELO-CARDIO-FACIAL SYNDROME AND CATCH22 - 5 DISTINCT TRANSCRIPTS EXPRESSED IN HEART IDENTIFIED, MAPPED AND ORDERED IN THE CRITICAL REGION. AM J HUM GENET, 57(4), 150 - 150.
    • Roberts C, Knowles ME, Cook MJ, Kerby J, Thorogood P, Scambler PJ, Whiting JA (1995). The TUPLE1 gene is expressed in the neural crest and embryological structures affected in DiGeorge syndrome.. Proceedings of the Congress of the European Developmental Biology Organization., , X16. - .
    • Wadey R, Daw S, Taylor C, Atif U, Kamath S, Halford S, O'Donnell H, Wilson D, Goodship JA, Burn J, Scambler PJ (1995). Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with the DiGeorge syndrome.. Hum.Mol.Genet., 4, 1027 - 1034.
    • Wilson DI, Scambler PJ (1995). The chromosome 22q11 deletion syndromes.. App.Cytogenet., 21, 33 - 39.
    • Morrow B, Goldberg R, Carlson C, Das Gupta R, Sirotkin H, Collins J, Dunham I, O'Donnell H, Scambler P, Shprintzen R (1995). Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome.. Am J Hum Genet, 56(6), 1391 - 1403.
    • Lindsay EA, Greenberg F, Shaffer LG, Shapira SK, Scambler PJ, Baldini A (1995). Submicroscopic deletions at 22q11.2: variability of the clinical picture and delineation of a commonly deleted region.. Am J Med Genet, 56(2), 191 - 197. doi:10.1002/ajmg.1320560216
    • Dixon J, Loftus SK, Gladwin AJ, Scambler PJ, Wasmuth JJ, Dixon MJ (1995). Cloning of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene from the Treacher Collins syndrome candidate region at 5q32-q33.1.. Genomics, 26(2), 239 - 244.
    • Halford S, Mattei MG, Daw S, Scambler PJ (1995). A novel C2H2 zinc-finger protein gene (ZNF160) maps to human chromosome 19q13.3-q13.4.. Genomics, 25(1), 322 - 323.
    • HALFORD S, WADEY R, ROBERTS C, DAW SCM, WHITING JA, ODONNELL H, DUNHAM I, BENTLEY D, LINDSAY EA, BALDINI A, FRANCIS F, LEHRACH H, WILLIAMSON R, WILSON DI, GOODSHIP J, CROSS I, BURN J, SCAMBLER PJ (1995). CATCH-22 - CAN MOLECULAR GENETICS EXPLAIN THE PHENOTYPE.
    • Burn J, Wilson DI, Cross I, Atif U, Scambler PJ, Takao A, Goodship JA (1995). The clinical significance of 22q11.2 deletion.. In Clark EB, Markwald RR, Takao A (Ed.), Developmental mechanisms of heart disease. (pp. 559 - 568). : Futura.
    • Collins JE, Cole CG, Smink LJ, Garrett CL, Leversha MA, Soderlund CA, Maslen GL, Everett LA, Rice KM, Coffey AJ, Gregory S, Gwilliam R, Dunham A, Davies AF, Hassock S, Todd CM, Lehrach H, Hulsebos TJM, Weissenbach J, Morrow B, Kucherlapati RS, Wadey R, Scambler PJ, Kim UJ, Simon MI, Carter NP, Durbin R, Dumanski JP, Bentley DR, Dunham I (1995). A high resolution integrated yeast artificial chromosome clone map of human chromosome 22.. Nature, 377 Suppl., 367 - 379.
    • Goodship J, Cross I, Scambler P, Burn J (1995). Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.. J.Med.Genet., 32, 746 - 748.
    • McKie J, Johnstone K, Mattei MG, Scambler P (1995). Cloning and Mapping of Murine Nfe2l1.. Genomics, 25, 716 - 719.
    • Melchionda S, Digilio MC, Mingarelli R, Novelli G, Scambler P, Marino B, Dallapiccola B (1995). Transposition of the great arteries associated with deletion of chromosome 22q11.. Am.J.Cardiol., 75, 95 - 98.
    • Morrow B, Goldberg R, Carlson C, Das Gupta R, Sirotkin H, Collins J, Dunham I, O'Donnell H, Scambler P, Shprintzen R, Kucherlapati R (1995). Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome.. Am.J.Hum.Genet., 56, 1379 - 1390.
    • COLLINS JE, COLE CG, SMINK LJ, GARRETT CL, LEVERSHA MA, SODERLUND CA, MASLEN GL, EVERETT LA, RICE KM, COFFEY AJ, GREGORY SG, GWILLIAM R, DUNHAM A, DAVIES AF, HASSOCK S, TODD CM, LEHRACH H, HULSEBOS JM, WEISSENBACH J, MORROW B, KUCHERLAPATI RS, WADEY R, SCAMBLER PJ, KIM UJ, SIMON MI, PEYRARD M, XIE YG, CARTER NP, DURBIN R, DUMANSKI JP, BENTLEY DR, DUNHAM I (1995). A HIGH-DENSITY YAC CONTIG MAP OF HUMAN-CHROMOSOME-22. NATURE, 377, 367 - 379.

    1994

    • SCAMBLER PJ (1994). REPORT OF THE 4TH INTERNATIONAL WORKSHOP ON HUMAN-CHROMOSOME-22 MAPPING 1994. CYTOGENET CELL GENET, 67(4), 278 - 286.
    • Scambler PJ (1994). Report of the Fourth International Workshop on Human Chromosome 22 Mapping 1994. Cytogenetics and Cell Genetics, 67(4), 277 - 286.
    • COLLINS JE, COLE CR, SMINK LJ, GARRETT CL, COFFEY AJ, GREGORY SG, DAVIES AF, HASSOCK S, TODD CM, DUMANSKI JP, SCAMBLER PJ, KIM UJ, MASLEN GL, SODERLUND C, DURBIN R, BENTLEY DR, DUNHAM I (1994). TOWARDS A FULLY INTEGRATED, HIGH-RESOLUTION PHYSICAL MAP OF CHROMOSOME-22. CYTOGENET CELL GENET, 67(4), 291 - 292.
    • Burn J, Goodship J, Wilson DI, Scambler P (1994). The genetic basis of heart malformation.. Med.Genetik., 1, 81 - .
    • Burn J, Wilson D, Wilson L, Splitt M, Scambler P, Goodship J (1994). Development of the heart.. In Ward RHT, Smith SK, Donnai D (Ed.), Early Fetal Growth and Development. (pp. 103 - 110). : RCOG Press.
    • Fisher EMC, Scambler PJ (1994). Human haploinsufficiency: One for sorrow, two for joy.. Nature Genetics, 7, 5 - 7.
    • Franke UC, Scambler PJ, Löffler C, Löns P, Hanefeld F, Zoll B, Hansmann I (1994). Interstitial deletion of 22q11 in DiGeorge syndrome detected by high resolution and molecular analysis.. Clin Genet, 46(2), 187 - 192.
    • BURN J, WILSON D, GOODSHIP J, TAKAO A, MOMMA A, CROSS I, SCAMBLER P (1994). IDENTIFICATION OF INTERSTITIAL 22Q11 DELETIONS IN CONTRUNCAL ANOMALY FACE SYNDROME. J MED GENET, 31(2), 167 - 167.
    • Scambler PJ (1994). Report and abstracts of the Fourth International Workshop on Human Chromosome 22 mapping 1994. Cambridge, United Kingdom, July 2-4, 1994.. Cytogenet Cell Genet, 67(4), 277 - 294.
    • Levy-Mozziconacci A, Wernert F, Scambler P, Rouault F, Metras D, Kreitman B, Depetris D, Mattei MG, Philip N (1994). Clinical and molecular study of DiGeorge sequence.. Eur.J.Pediatr., 153, 813 - 820.
    • Scambler PJ (1994). Report of the fourth international workshop on the mapping of chromosome 22.. Cytogenet.Cell.Genet., 67, 277 - 294.
    • Scambler PJ (1994). DiGeorge syndrome and related birth defects.. Seminars in Developmental Biology., 5, 303 - 310.
    • Sirotkin H, Morrow B, DasGupta R, Parimoo S, Patanjali S, Scambler PJ, Weissman S, Kucherlapati R (1994). Isolation of expressed sequences from the region commonly deleted in velo-cardio-facial syndrome.. Am J Hum Genet, 55, A271 - .
    • Wadey R, Roberts C, Daw S, Cooke M, Whiting J, Wilson D, Burn J, Lindsay E, Baldini A, Dunham I, Collins J, Goodship J, O'Donnell H, Taylor K, Halford S, Scambler PJ (1994). Isolation of a transcription factor expressed in neural crest from the region of 22q11 deleted in DiGeorge syndrome.. Am.J.Hum.Genet., 55, A127 - .
    • Wilson DI, Cross IE, Wren C, Scambler PJ, Burn J, Goodship J (1994). Minimum prevalence of chromosome 22q11 deletions.. Am.J.Hum.Genet., 55, A169 - .
    • HALFORD S, ODONNELL H, DAW S, WADEY R, RAYLOR K, LINDSAY E, BALDINI A, COLLINS J, DUNHAM I, BENTLEY D, SCAMBLER P (1994). 22Q11 - PHYSICAL, COMPARATIVE AND DISEASE LOCUS MAPPING. CYTOGENET CELL GENET, 67(4), 292 - 292.
    • Mattei MG, Halford S, Scambler PJ (1994). Mapping of the Tuple1 gene to mouse chromosome 16A-B1.. Genomics, 23(3), 717 - 718. doi:10.1006/geno.1994.1568

    1993

    • Wadey R, Daw S, Wickremasinghe A, Roberts C, Wilson D, Goodship J, Burn J, Halford S, Scambler PJ (1993). Isolation of a new marker and conserved sequences close to the DiGeorge syndrome marker HP500 (D22S134).. J Med Genet, 30(10), 818 - 821.
    • Wilson DI, Burn J, Scambler P, Goodship J (1993). Syndrome of the month: DiGeorge Syndrome. Part of CATCH-22.. J.Med.Genet., 30, 852 - 856.
    • HALFORD S, WADEY R, ROBERTS C, DAW SCM, WHITING JA, ODONNELL H, DUNHAM I, BENTLEY D, LINDSAY E, BALDINI A, FRANCIS F, LEHRACH H, WILLIAMSON R, WILSON DI, GOODSHIP J, CROSS I, BURNS J, SCAMBLER PJ (1993). ISOLATION OF A PUTATIVE TRANSCRIPTIONAL REGULATOR FROM THE REGION OF 22Q11 DELETED IN DIGEORGE-SYNDROME, SHPRINTZEN SYNDROME AND FAMILIAL CONGENITAL HEART-DISEASE. HUM MOL GENET, 2(12), 2099 - 2107.
    • HALFORD S, WILSON DI, DAW SCM, ROBERTS C, WADEY R, KAMATH S, WICKREMASINGHE A, BURN J, GOODSHIP J, MATTEI MG, MOORMON AFM, SCAMBLER PJ (1993). ISOLATION OF A GENE EXPRESSED DURING EARLY EMBRYOGENESIS FROM THE REGION OF 22Q11 COMMONLY DELETED IN DIGEORGE-SYNDROME. HUM MOL GENET, 2(10), 1577 - 1582.
    • Wilson DI, Burn J, Scambler P, Goodship J (1993). DiGeorge syndrome: part of CATCH 22.. J Med Genet, 30(10), 852 - 856.
    • RAMSAY M, WILLIAMSON R, ESTIVILL X, WAINWRIGHT BJ, HO MF, HALFORD S, KERE J, SAVILAHTI E, DELACHAPELLE A, SCHWARTZ M, SCHWARTZ M, SUPER M, FARNDON P, HARDING C, MEREDITH L, ALJADER L, FEREC C, CLAUSTRES M, CASALS T, NUNES V, GASPARINI P, SAVOIA A, PIGNATTI PF, NOVELLI G, GENNARELLI M, DALLAPICCOLA B, KALAYDJIEVA L, SCAMBLER PJ (1993). HAPLOTYPE ANALYSIS TO DETERMINE THE POSITION OF A MUTATION AMONG CLOSELY LINKED DNA MARKERS (VOL 2, PG 1007, 1993). HUM MOL GENET, 2(9), 1523 - 1523.
    • FRYDMAN M, FINKELSTEIN Y, RAVIA Y, SCAMBLER PJ, GOLDMAN B (1993). VELO-CARDIO-FACIAL SYNDROME (VCFS) - CLINICAL-STUDIES IN 27 PATIENTS AND PRELIMINARY-RESULTS OF MOLECULAR ANALYSIS. AM J HUM GENET, 53(3), 435 - 435.
    • LINDSAY EA, GREENBERG F, PAGE S, SHAFFER LG, SCAMBLER PJ, BALDINI A (1993). SUBMICROSCOPIC DELETIONS AT 22Q11.2 - VARIABILITY OF THE CLINICAL PICTURE AND DELIMITATION OF THE COMMONLY DELETED REGION. AM J HUM GENET, 53(3), 1195 - 1195.
    • Lindsay EA, Halford S, Wadey R, Scambler PJ, Baldini A (1993). Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization.. Genomics, 17(2), 403 - 407. doi:10.1006/geno.1993.1339
    • RAMSAY M, WILLIAMSON R, ESTIVILL X, WAINWRIGHT BJ, HO MF, HALFORD S, KERE J, SAVILAHTI E, DELACHAPELLE A, SCHWARTZ M, SCHWARTZ M, SUPER M, FARNDON P, HARDING C, MEREDITH L, ALJADER L, FEREC C, CLAUSTRES M, CASALS T, NUNES V, GASPARINI P, SAVOIA A, PIGNATTI PF, NOVELLI G, BENNARELLI M, DALLAPICCOLA B, KALAYDJIEVA L, SCAMBLER PJ (1993). HAPLOTYPE ANALYSIS TO DETERMINE THE POSITION OF A MUTATION AMONG CLOSELY LINKED DNA MARKERS. HUM MOL GENET, 2(7), 1007 - 1014.
    • Scambler PJ (1993). Deletions of human chromosome 22 and associated birth defects.. Curr Opin Genet Dev, 3(3), 432 - 437.
    • Wilkie AO, Taylor D, Scambler PJ, Baraitser M (1993). Congenital cataract, microphthalmia and septal heart defect in two generations: a new syndrome?. Clin Dysmorphol, 2(2), 114 - 119.
    • Desmaze C, Scambler P, Prieur M, Halford S, Sidi D, Le Deist F, Aurias A (1993). Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridisation. Hum.Genet., 90, 663 - 665.
    • WILSON DI, BRITTON SB, MCKEOWN C, KELLY D, CROSS IE, STROBEL S, SCAMBLER PJ (1993). NOONANS-SYNDROME AND DIGEORGE SYNDROME WITH MONOSOMY 22Q11. ARCH DIS CHILD, 68(2), 187 - 189.
    • Burn J, Takao A, Wilson DI, Cross I, Momma K, Wadey R, Scambler PJ, Goodship J (1993). Conotruncal anomaly face syndrome is associated with the deletion within chromosome 22q11.. J.Med.Genet., 30, 822 - 824.
    • Kelly D, Goldberg R, Wilson D, Lindsay E, Carey A, Goodship J, Burn J, Cross I, Shprintzen RJ, Scambler PJ (1993). Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.. Am J Med Genet, 45(3), 308 - 312. doi:10.1002/ajmg.1320450306
    • Emanuel BS, Buetow K, Nussbaum R, Scambler P, Lipinski M, Overton GC (1993). Report of the third international workshop on human chromosome 22 mapping.. Cytogenet.Cell.Genet., 63, 206 - 211.
    • Goldberg R, Motzkin B, Marion R, Scambler PJ, Shprintzen R (1993). Velo-Cardio-Facial Syndrome. Am.J.Med.Genet, 45, 313 - 319.
    • Scambler PJ (1993). A genetic aetiology for DiGeorge syndrome, velo-cardio-facial syndrome and familial congenital heart defect.. In Yacoub M, Pepper J (Ed.), Annual of Cardiac Surgery. (pp. - ). : Current Science..
    • Wilson DI, Bennett Briton S, McKeown C, Kelly D, Cross I, Strobel S, Scambler PJ (1993). An individual with Noonan and DiGeorge syndromes, and monosomy 22q11. Arch.Dis.Child., 68, 187 - 189.
    • Goldberg R, Motzkin B, Marion R, Scambler PJ, Shprintzen RJ (1993). Velo-cardio-facial syndrome: a review of 120 patients.. Am J Med Genet, 45(3), 313 - 319. doi:10.1002/ajmg.1320450307
    • Halford S, Lindsay E, Nayudu M, Carey AH, Baldini A, Scambler PJ (1993). Low-copy-number repeat sequences flank the DiGeorge/velo-cardio-facial syndrome loci at 22q11.. Hum Mol Genet, 2(2), 191 - 196.
    • Holder SE, Winter RM, Kamath S, Scambler PJ (1993). Velocardiofacial syndrome in a mother and daughter: variability of the clinical phenotype.. J Med Genet, 30(10), 825 - 827.

    1992

    • Donnai D, Heather LJ, Sinclair P, Thakker Y, Scambler PJ, Dixon MJ (1992). Association of autosomal dominant cleft lip and palate and translocation 6p23;9q22.3.. Clin Dysmorphol, 1(2), 89 - 97.
    • Sharkey AM, McLaren L, Carroll M, Fantes J, Green D, Wilson D, Scambler PJ, Evans HJ (1992). Isolation of anonymous DNA markers for human chromosome 22q11 from a flow-sorted library, and mapping using hybrids from patients with DiGeorge syndrome.. Hum Genet, 89(1), 73 - 78.
    • Carey AH, Claussen U, Lüdecke HJ, Horsthemke B, Ellis D, Oakey H, Wilson D, Burn J, Williamson R, Scambler PJ (1992). Interstitial deletions in DiGeorge syndrome detected with microclones from 22q11.. Mamm Genome, 3(2), 101 - 105.
    • Dunham I, Collins J, Wadey R, Scambler PJ (1992). Possible role for COMT in psychosis associated with velo-cardio-facial syndrome.. Lancet, 340, 1361 - 1362.
    • Scambler PJ, Kelly D, Lindsay E, Williamson R, Goldberg R, Shprintzen R, Wilson DI, Goodship JA, Cross IE, Burn J (1992). Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus.. Lancet, 339(8802), 1138 - 1139.
    • Wilson DI, Scambler PJ, Goodship JA, Burn J (1992). Deletion within chromosome 22q11 is a major cause of isolated heart defects and most cases of GiGeorge and velocardiofacial syndromes.. Proceedings of the British Paediatric Association Meeting., April 7-10., Warwick - UK.
    • Wilson DI, Cross IE, Goodship JA, Brown J, Scambler PJ, Bain HH, Taylor JF, Walsh K, Bankier A, Burn J (1992). A prospective cytogenetic study of 36 cases of DiGeorge syndrome.. Am J Hum Genet, 51(5), 957 - 963.
    • CAREY AH, KELLY D, HALFORD S, WADEY R, WILSON D, GOODSHIP J, BURN J, PAUL T, SHARKEY A, DUMANSKI J, NORDENSKJOLD M, WILLIAMSON R, SCAMBLER PJ (1992). MOLECULAR GENETIC-STUDY OF THE FREQUENCY OF MONOSOMY 22Q11 IN DIGEORGE SYNDROME. AM J HUM GENET, 51(5), 964 - 970.
    • Wilson DI, Goodship JA, Burn J, Cross IE, Scambler PJ (1992). Deletions within chromosome 22q11 in familial congenital heart disease.. Lancet, 340(8819), 573 - 575.
    • Scambler PJ, Kelly D, Williamson R, Goldberg R, Shprintzen R (1992). The velo-cardio-facial syndrome is associated with chromosome 22 deletions which encompass the DiGeorge syndrome locus. Lancet, 339, 1138 - 1139.

    1991

    • Carlbom E, Sugawa N, Larsson C, Scambler PJ, Dumanski JP, Collins VP, Nordenskjöld M (1991). Identification of twelve new RFLP-markers on chromosome 22q11-qter.. Hum Genet, 88(2), 135 - 138.
    • Koller BH, Kim HS, Latour AM, Brigman K, Boucher RC, Scambler P, Wainwright B, Smithies O (1991). Toward an animal model of cystic fibrosis: targeted interruption of exon 10 of the cystic fibrosis transmembrane regulator gene in embryonic stem cells.. Proc Natl Acad Sci U S A, 88(23), 10730 - 10734.
    • Wilson DI, Cross IE, Goodship JA, Coulthard S, Carey AH, Scambler PJ, Bain HH, Hunter AS, Carter PE, Burn J (1991). DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin.. Br Heart J, 66(4), 308 - 312.
    • WILSON DI, GOODSHIP JA, SCAMBLER PJ, CAREY A, CROSS I, BURN J (1991). IS MONOSOMY FOR THE DIGEORGE LOCUS ON CHROMOSOME-22 RESPONSIBLE FOR ISOLATED HEART MALFORMATIONS. AM J HUM GENET, 49(4), 171 - 171.
    • Adam G, Baranov V, Boue A, Dodge JA, Fost N, Gotz M, Mangos J, Mastella G, Modell B, Moshin A, Pivetta OH, Scambler P, Strandvik B, Tempany E, Wilcken B, Yamashiro Y, Weibel M, Heidet L (1991). ETUDE DE FAISABILITE DES PROGRAMMES COMMUNAUTAIRES DE LUTTE CONTRE LA MUCOVISCIDOSE: MEMORANDUM D'UNE REUNION OMS/AILM. Bulletin of the World Health Organization, 69(1), 27 - 34.
    • Tata F, Stanier P, Wicking C, Halford S, Kruyer H, Lench NJ, Scambler PJ, Hansen C, Braman JC, Williamson R (1991). Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene.. Genomics, 10(2), 301 - 307.
    • Scambler PJ, Carey AH, Wyse RK, Roach S, Dumanski JP, Nordenskjold M, Williamson R (1991). Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.. Genomics, 10(1), 201 - 206.
    • Nusse R, Brown A, Papkoff J, Scambler P, Shackleford G, McMahon A, Moon R, Varmus H (1991). A new nomenclature for int-1 and related genes: the Wnt gene family. Cell, 64(2), 231 - .
    • Koller BH, Kim HS, Latour AM, Brigman K, Boucher RC, Scambler PJ, Wainwright BJ, Smithies O (1991). Towards an animal model of cystic fibrosis: targetted interruption of exon 10 of the CFTR gene in embryonic stem cells. Proc.Natl.Acad Sci, 88, 10730 - 10734.
    • SCAMBLER P, HALFORD S, WADEY R, LINDSAY E, KELLY D, WILSON D, GOODSHIP J, BURN J, GOLDBERG R, SHPRINTZEN R, WILLIAMSON R, CAREY A (1991). MOLECULAR STUDIES OF MONOSOMY-22Q11 AND ITS CLINICAL CONSEQUENCES. AM J HUM GENET, 49(4), 275 - 275.

    1990

    • Carey AH, Roach S, Williamson R, Dumanski JP, Nordenskjold M, Collins VP, Rouleau G, Blin N, Jalbert P, Scambler PJ (1990). Localization of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome.. Genomics, 7(3), 299 - 306.
    • Chan AML, Hilkens J, Kroezen V, Mitchell PJ, Scambler PJ, Wainwright BJ, Williamson R, Cooper CS (1990). Molecular cloning and localisation to chromosome 6 of Mouse INT1L1 gene. Somat.Cell.Mol.Genet, 15, 555 - 562.
    • RAMSAY M, WAINWRIGHT BJ, FARRALL M, ESTIVILL X, SUTHERLAND H, HO MF, DAVIES R, HALFORD S, TATA F, WICKING C, LENCH N, BAUER I, FEREC C, FARNDON P, KRUYER H, STANIER P, WILLIAMSON R, SCAMBLER PJ (1990). A NEW POLYMORPHIC LOCUS, D7S411, ISOLATED BY CLONING FROM PREPARATIVE PULSE-FIELD GELS IS CLOSE TO THE MUTATION CAUSING CYSTIC-FIBROSIS. GENOMICS, 6(1), 39 - 47.
    • Scambler PJ, Wainwright B, Ramsay M, Farrall M, Bates G, Ho MF, Cooper C (1990). Analysis of the transgenome of MET transfectant cell lines reveals that MET activation is accompanied by an interstitial insertion.. Hum Genet, 84(3), 274 - 278.

    1989

    • Scambler PJ (1989). The cystic fibrosis gene.. Arch Dis Child, 64(12), 1647 - 1648.
    • Farrall M, Scambler PJ (1989). Cystic fibrosis.. Nature, 338(6210), 24 - . doi:10.1038/338024c0
    • Estivill X, McLean C, Nunes V, Casals T, Gallano P, Scambler PJ, Williamson R (1989). Isolation of a new DNA marker in linkage disequilibrium with cystic fibrosis, situated between j3.11(D7S8) and IRP. Am.J.Hum.Genet., 44, 704 - 710.
    • Farrall M, Scambler PJ (1989). Cystic Fibrosis. Nature, 338, 24 - .
    • Ramsay M, Sutherland H, Williamson R, Scambler PJ (1989). Probe pJ1 (D7S402) detects a MspI RFLP on chromosome 7q31-32. Nucl.Acids Res., 17, 1793 - 1793.

    1988

    • Brooks BA, McBride OW, Dolphin CT, Farrall M, Scambler PJ, Gonzalez FJ, Idle JR (1988). The gene CYP3 encoding P450pcn1 (nifedipine oxidase) is tightly linked to the gene COL1A2 encoding collagen type 1 alpha on 7q21-q22.1.. Am J Hum Genet, 43(3), 280 - 284.
    • Lench NJ, Scambler PJ (1988). An anonymous DNA probe (NL32) recognises a MspI polymorphism on human chromosome 1 [D1S84].. Nucleic Acids Res, 16(24), 11854 - .
    • Wainwright BJ, Scambler PJ, Stanier P, Watson EK, Bell G, Wicking C, Estivill X, Courtney M, Boue A, Pedersen PS, Williamson R, Farrall M (1988). Isolation of a human gene with protein sequence similarity to human and murine int-1 and the Drosophila segment polarity mutant wingless. EMBO J., 7, 1743-1748 - 1743-1748.
    • Estivill X, Hawley KMF, Frederick PA, Scambler PJ, Wainwright BJ, Williamson R, Farrall M (1988). Further linkage disequilibrium data at the cystic fibrosis locus. Cytogenet.Cell Genet., , - .
    • WAINWRIGHT BJ, SCAMBLER PJ (1988). THE MOLECULAR-GENETICS OF CYSTIC-FIBROSIS. ISI ATLAS-BIOCHEM, 1(1), 77 - 80.
    • Estivill X, Scambler PJ (1988). Isolation and mapping of a polymorphic DNA sequence pXH3 on chromosome X [DXS235].. Nucleic Acids Res, 16(6), 2740 - .
    • Wainwright BJ, Scambler PJ, Stanier P, Watson EK, Bell G, Wicking C, Estivill X, Courtney M, Boue A, Pedersen PS (1988). Isolation of a human gene with protein sequence similarity to human and murine int-1 and the Drosophila segment polarity mutant wingless.. EMBO J, 7(6), 1743 - 1748.

    1987

    • LEPPERT M, DOBBS M, SCAMBLER P, OCONNELL P, NAKAMURA Y, STAUFFER D, WOODWARD S, BURT R, HUGHES JP, GARDNER E, LATHROP M, WASMUTH J, LALOUEL JM, WHITE R (1987). THE GENE FOR FAMILIAL POLYPOSIS MAPS TO THE LONG ARM OF CHROMOSOME-5. CYTOGENET CELL GENET, 46(1-4), 647 - 647.
    • Williamson R, Wainwright BJ, Cooper CS, Scambler PJ, Farrall M, Estivill X, Pedersen PS (1987). The Cystic Fibrosis Locus. Enzyme, 38, 8 - 13.
    • Williamson R, Wainwright BJ, Bates GP, Scambler PJ, Kruyer H, Farrall M, Estivill X, Watson EK, Lench NJ, Stanier P (1987). Molecular Approaches to identify the cystic fibrosis gene defect. Paed.Pulmonology, 1, 33 - 33.
    • Wainwright BJ, Lench NJ, Davies KA, Scambler PJ, Kruyer H, Williamson R, Jahnsen T, Farrall M (1987). A human regulatory subunit of cAMP-dependent protein kinase (hR- II) localised by its linkage relationship to several cloned chromosome 7q markers. Cytogenet.Cell Genet., 45, 237 - 239.
    • Scambler PJ, Bell G, Estivill X, Lench NJ, Farrall M, Frederick PA, Hawley KMF, Bates GP, Kruyer H, Wainwright BJ, Williamson R (1987). Progress towards identification of the gene defect in cystic fibrosis. Ann.Clin.Biochem., 24, s1 - s3.
    • Scambler PJ, Oyen O, Wainwright BJ, Farrall M, Law HY, Estivill X, Sandberg M, Williamson R, Jahnsen T (1987). Exclusion of catalytic and regulatory subunits of cAMP-dependent protein kinase as candidate genes for defect causing cystic fibrosis. Am.J.Hum.Genet., 41, 925 - 932.
    • Leppert M, Dobbs M, Scambler PJ, O'Connell P, Nakamura Y, Stauffer D, Woodward S, Randall B, Hughes JP, Eldon G, Lathrop M, Wasmuth J, Lalouel JM, White R (1987). The gene for familial polyposis coli maps to the long arm of chromosome 5. Science, 238, 1411 - 1413.
    • Lench NJ, Bell G, Farrall M, Scambler PJ, Wainwright BJ, Watson E, Williamson R (1987). Muscular dystrophy and cystic fibrosis. New Approach to Genetic disease, , 107 - 120.
    • Bodmer WF, Bailey CJ, Bodmer J, Bussey HJR, Ellis A, Gorman P, Lucibello FC, Murday VA, Rider SH, Scambler PJ, Sheer D, Solomon E, Spurr NK (1987). Localisation of the gene for familial adenomatous polyposis on chromsome 5. Nature, 328, 614 - 616.
    • ESTIVILL X, LENCH N, SCAMBLER PJ, WILLIAMSON R (1987). THE USE OF OLIGONUCLEOTIDES AS PROBES TO IDENTIFY RARE CUTTER RESTRICTION SITES. CYTOGENET CELL GENET, 46(1-4), 611 - 611.
    • ESTIVILL X, HAWLEY KMF, FREDERICK P, SCAMBLER PJ, WAINWRIGHT BJ, WILLIAMSON R, FARRALL M (1987). FURTHER LINKAGE DISEQUILIBRIUM DATA FOR CYSTIC-FIBROSIS. CYTOGENET CELL GENET, 46(1-4), 610 - 611.
    • Estivill X, Scambler PJ, Wainwright BJ, Hawley K, Frederick P, Schwartz M, Baiget M, Kere J, Williamson R, Farrall M (1987). Patterns of polymorphism and linkage disequilibrium for cystic fibrosis.. Genomics, 1(3), 257 - 263.
    • Robbins TP, Scambler PJ, Davies KE, Williamson R (1987). An anonymous clone E9pl (D4S112) localised to 4q26-qter detects an Msp I RFLP.. Nucleic Acids Res, 15(19), 8122 - .
    • Scambler PJ, McPherson MA, Bates G, Bradbury NA, Dormer RL, Williamson R (1987). Biochemical and genetic exclusion of calmodulin as the site of the basic defect in cystic fibrosis.. Hum Genet, 76(3), 278 - 282.
    • Scambler PJ, Estivill X, Bell G, Farrall M, McLean C, Newman R, Little PF, Frederick P, Hawley K, Wainwright BJ (1987). Physical and genetic analysis of cosmids from the vicinity of the cystic fibrosis locus.. Nucleic Acids Res, 15(9), 3639 - 3652.
    • Estivill X, Farrall M, Scambler PJ, Bell GM, Hawley KM, Lench NJ, Bates GP, Kruyer HC, Frederick PA, Stanier P (1987). A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands.. Nature, 326(6116), 840 - 845. doi:10.1038/326840a0
    • Estivill X, Bates G, Bell G, Farrall M, Frederick P, Hawley K, Kruyer H, Lench N, Scambler P, Stanier P, Wainwright B, Williamson R (1987). The application of molecular genetics to the study of the basic defect causing cystic fibrosis. In Riordan JR, Buchwald M (Ed.), Genetics and epithelial cell dysfunction in cystic fibrosis. Progress in CLinical and Biological Research (pp. 181 - 190). : .
    • Buckle VJ, Scambler PJ, Wainwright BJ (1987). Localisation of a sequence, 7C22, showing close linkage to the cystic fibrosis locus.. Cytogenet Cell Genet, 44(1), 41 - 42.
    • Scambler PJ, Lench NJ (1987). RFLP for C2/11 (D7S374), a cosmid for chromosome seven.. Nucleic Acids Res, 15(19), 8121 - .
    • BUCKLE VJ, EDWARDS JH, SCAMBLER PJ, WAINWRIGHT BJ (1987). LOCALIZATION AND ORDER OF SEQUENCES D7S13 AND D7S16, WHICH SHOW CLOSE LINKAGE TO THE CYSTIC-FIBROSIS LOCUS. CYTOGENET CELL GENET, 46(1-4), 588 - 588.
    • Wainwright BJ, Scambler PJ, Williamson R (1987). Regional localization of three probes closely linked to the cystic fibrosis locus by deletion analysis.. Cytogenet Cell Genet, 44(2-3), 101 - 102.

    1986

    • Farrall M, Scambler P, North P, Williamson R (1986). The analysis of multiple polymorphic loci on a single human chromosome to exclude linkage to inherited disease: cystic fibrosis and chromosome 4.. Am J Hum Genet, 38(1), 75 - 83.
    • Williamson R, Bell G, Bell J, Bates G, Davies KA, Estivill X, Farrall M, Kruyer H, Law HY, Lench N, Scambler PJ, Stanier P, Wainwright BJ, Watson E, Worrall C (1986). Molecular genetics and the basic defect causing cystic fibrosis. In (Ed.), Cold Spring Harbor Symposia on Quantitative Biology LI (pp. 309 - 315). : .
    • Wainwright BJ, Scambler PJ, Farrall M, Schwartz M, Williamson R (1986). Linkage between the cystic fibrosis locus and markers on chromosome 7q. Cytogenet.Cell.Genet., 41, 191 - 192.
    • Scambler PJ, Bell G, Estivill X, Lench NJ, Law HY, Cooper CS, Bates GP, Wainwright BJ, Farrall M, Williamson R (1986). CMGT of DNA sequences linked to cystic fibrosis. Am.J.Hum.Genet., 39, A218 - A218.
    • Klinger KW, Stanislovitis P, Hoffman N, Watkins PC, Schwartz R, Doherty R, Scambler PJ, Farrall M, Williamson R, Wainwright BJ (1986). Genetic homogeneity of cystic fibrosis. Nucl.Acids Res., 21, 8681 - 8696.
    • FARRALL M, RODECK CH, STANIER P, LISSENS W, WATSON E, LAW HY, WARREN R, SUPER M, SCAMBLER P, WAINWRIGHT B, WILLIAMSON R (1986). 1ST-TRIMESTER PRENATAL-DIAGNOSIS OF CYSTIC-FIBROSIS WITH LINKED DNA PROBES. LANCET, 1(8495), 1402 - 1405.
    • Farrall M, Watson EK, Bates GP, Bell G, Bell J, Davies KA, Estivill X, Kruyer H, Law HY, Lench NJ, Lissens W, Simon P, Scambler PJ, Stanier P, Vassart G, Worrall C, Williamson R, Wainwright BJ (1986). Further data supporting linkage between cystic fibrosis and the met oncogene and haplotype analysis with met and pJ3.11. Am.J.Hum.Genet., 39, 713 - 719.
    • Farrall M, Scambler PJ, North P, Williamson R (1986). The analysis of multiple polymorphic loci on a single human chromosome to exclude linkage to inherited disease: cystic fibrosis and chromosome 4. Am.J.Hum.Genet., 38, 75-83 - 75-83.
    • Scambler PJ, Law HY, Williamson R, Cooper CS (1986). Chromosome mediated gene transfer of six DNA markers linked to the cystic fibrosis locus on human chromosome seven.. Nucleic Acids Res, 14(18), 7159 - 7174.
    • Farrall M, Law H-Y, Rodeck CH, Warren R, Stanier P, Super M, Lissens W, Scambler PJ, Watson E, Wainwright BJ, Williamson R (1986). First-trimester prenatal diagnosis of cystic fibrosis with linked DNA probes. Lancet, 1(8495), 1402 - 1404.
    • Farrall M, Scambler PJ, Klinger KW, Davies KE, Worrall C, Williamson R, Wainwright BJ (1986). Cystic fibrosis carrier detection using a linked gene probe. J.Med.Genet., 23, 295 - 299.
    • Scambler PJ, Bell G, Watson E, Farrall M, Bates G, Davies K, Lench N, Ashworth A, Williamson R, Tippett P (1986). Cystic fibrosis linkage exclusion data.. Cytogenet Cell Genet, 41(1), 62 - 63.
    • Scambler PJ, Bell J, Bell G, Williamson R (1986). Isolation of a polymorphic DNA sequence (lambda 82B, D8S2) from chromosome eight.. Nucleic Acids Res, 14(4), 1927 - .
    • Scambler PJ, Wainwright BJ, Watson E, Bates G, Bell G, Williamson R, Farrall M (1986). Isolation of a further anonymous informative DNA sequence from chromosome seven closely linked to cystic fibrosis.. Nucleic Acids Res, 14(5), 1951 - 1956.
    • Scambler PJ, Wainwright BJ, MacGillivray RT, Fung MR, Williamson R (1986). Exclusion of human chromosome 13q34 as the site of the cystic fibrosis mutation.. Am J Hum Genet, 38(4), 567 - 572.
    • SCAMBLER PJ, BELL G, BELL J, CARRITT B (1986). ISOLATION OF A POLYMORPHIC DNA-SEQUENCE (LAMBDA-86B, D8S3) FROM CHROMOSOME-8. NUCLEIC ACIDS RES, 14(10), 4382 - 4382.
    • WILLIAMSON R, BELL G, BELL J, BATES G, DAVIES KA, ESTIVILL X, FARRALL M, KRUYER H, LAW HY, LENCH N, SCAMBLER P, STANIER P, WAINWRIGHT B, WATSON E, WORRALL C (1986). MOLECULAR-GENETICS AND THE BASIC DEFECT CAUSING CYSTIC-FIBROSIS. COLD SPRING HARB SYM, 51, 309 - 315.
    • FARRALL M, WATSON E, BATES G, BELL G, BELL J, DAVIES KA, ESTIVILL X, KRUYER H, LAW HY, LENCH N, LISSENS W, SIMON P, SCAMBLER P, STANIER P, VASSART G, WORRALL C, WILLIAMSON R, WAINWRIGHT BJ (1986). FURTHER DATA SUPPORTING LINKAGE BETWEEN CYSTIC-FIBROSIS AND THE MET ONCOGENE AND HAPLOTYPE ANALYSIS WITH MET AND PJ3.11. AM J HUM GENET, 39(6), 713 - 719.
    • WILLIAMSON R, SCAMBLER P, FARRALL M, WAINWRIGHT B (1986). THE GENETIC-MAP OF THE REGION SURROUNDING THE CYSTIC-FIBROSIS GENE DEFECT. Q J MED, 61(235), 1070 - 1071.

    1985

    • Scambler PJ, Williamson R (1985). A RFLP for A56 (D5S) an anonymous DNA sequence from chromosome 5.. Nucleic Acids Res, 13(18), 6788 - .
    • Scambler PJ, Robbins TP, Gilliam TC, Boylston A, Tippett P, Williamson R, Davies KE (1985). Linkage studies between polymorphic markers on chromosome 4 and cystic fibrosis. Hum.Genet., 69, 250 - 254.
    • Scambler PJ, Wainwright BJ, Farrall M, Bell J, Stanier P, Lench NJ, Bell G, Kruyer H, Ramirez F, Williamson R (1985). Linkage of the Col1A2 collagen gene to cystic fibrosis. Lancet, ii, 1241 - 1242.
    • Scambler PJ, Wainwright BJ, Farrall M, Bell J, Stanier P, Lench NJ, Bell G, Kruyer H, Ramirez F, Williamson R (1985). Linkage of COL1A2 collagen gene to cystic fibrosis, and its clinical implications.. Lancet, 2(8466), 1241 - 1242.
    • Wainwright BJ, Scambler PJ, Schmidtke J, Watson EA, Law HY, Farrall M, Cooke HJ, Eiberg H, Williamson R (1985). Localization of cystic fibrosis locus to human chromosome 7cen-q22.. Nature, 318(6044), 384 - 385.
    • Scambler PJ, Lord R, Bell G, Scott J, Williamson R (1985). Two RFLPs for human alpha-2 macroglobulin (A2M).. Nucleic Acids Res, 13(18), 6787 - .
    • WILLIAMSON R, SCAMBLER P, FARRALL M (1985). THE USE OF THE MLINK LINKAGE PROGRAM IN EXCLUSION MAPPING USING CYSTIC-FIBROSIS AND CHROMOSOME-4 AS A MODEL SYSTEM. CYTOGENET CELL GENET, 40(1-4), 779 - 779.
    • Scambler PJ, Lord R, Bates G, Williamson R (1985). RFLP for D4S12, an anonymous single copy genomic clone at 4pter-4q26 [HGM8 provisional no. D4S12].. Nucleic Acids Res, 13(8), 3016 - .
    • Scambler PJ, Williamson R (1985). The structural gene for human coagulation factor X is located on chromosome 13q34.. Cytogenet Cell Genet, 39(3), 231 - 233.
    • SCAMBLER PJ, LORD R, BATES G, WILLIAMSON R (1985). RFLP FOR D4S12, AN ANONYMOUS SINGLE COPY GENOMIC CLONE AT 4PTER-4Q26. NUCLEIC ACIDS RES, 13(8), 3016 - 3016.
    • Donald JA, Wallis SC, Kessling AM, Tippett P, Robson EB, Ball S, Davies KE, Scambler PJ, Berg K, Eiberg H, Williamson R, Humphries SE (1985). Linkage relationships of the gene for apolipoprotein CII with loci on chromosome 19. Hum.Genet., 69, 39 - 43.

    1984

    • Hodkinson S, Scambler PJ (1984). Recombinant DNA techniques in diagnostic and preventive medicine.. BIoessays, 1, 12 - 15.
    • Gilliam TC, Scambler PJ, Robbins TP, Ingle C, Williamson R, Davies KE (1984). The positions of three restriction fragment length polymorphisms on chromosome 4 relative to known genetic markers. Hum.Genet., 68, 154 - 158.
    • Williamson R, Gilliam C, Blaxter M, Scambler PJ, Robbins T, Davies KE (1984). Gene Cloning - a tool to find the basic defect in cystic fibrosis. In Lawson D (Ed.), Cystic Fibrosis: Horizons (pp. - ). : Wiley.

    • Lau KD, Diaz VA, Scambler P, Burriesci G (). Edge to edge simulation of the mitral valve: A fluid-structure interaction approach.
    • Calmont A, Thapar N, Scambler PJ, Burns AJ (). Absence of the vagus nerve in the stomach of Tbx1-/- mutant mice. Neurogastroenterology And Motility, , - .
    • Lau K, Diaz VA, Scambler P, Burriesci G (). Fluid Structure Interaction Models of the Mitral Valve.