Dr Hannah Mitchison

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Personal Profile

Name: Hannah Mitchison Email: h.mitchison@ucl.ac.uk
Title: Dr Tel: 02079052866
Department: ICH Genetics & Genomic Medicine Prog Fax:
Position: Reader in Molecular and Medical Genetics Address: Institute of Child Health, 30 Guilford Street, London, WC1N 1EH
Research Domain: Basic Life Sciences, Experimental Medicine, Genetics (Frontier Disciplines), Human Wellbeing, Neuroscience, Personalised Medicine, Populations & Lifelong Health Web Page: Personal Web Page

Profile

Research Description

We use human genetics and functional studies in cells and in vivo models to understand the molecular genetic basis of ciliopathies, with particular focus on the motile ciliopathies (primary ciliary dyskinesia) and skeletal ciliopathies (Jeune syndrome, short rib polydactylies). Other genetic diseases under study in the lab include lysosome storage disorders (Batten disease). By understanding the molecular causes of childhood disease our goal is to work towards novel, genetically targeted, therapies.

Human cilia play diverse roles in many processes essential to normal development. Motile cilia dysfunction is associated with chronic respiratory disease and laterality and fertility defects. Dysfunction of primary (sensory) cilia, which play a role in a number of critical signalling pathways including hedgehog and Wnt, is associated with severe developmental conditions for example chondrodyslplasia, retinal degeneration and cystic kidney disease. Mutations in ciliary proteins thus underlie a wide range of ciliopathy syndromes and these can individually be rare, but collectively represent a significant health burden.


Research Activities

Batten disease, lysosomal storage diseases

Ciliopathies, cilia

Education Description

UCL Collaborators

Prof Peter Scambler; Prof Stephen Hart; Prof Daniel Cutler; Prof Philip Beales; Prof Christopher O'callaghan; Dr Eddie Chung

External Collaborators

Publications

    2013

    • 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
    • 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
    • Kmoch S, Stránecký V, Emes RD, Mitchison HM (2013). Bioinformatic perspectives in the neuronal ceroid lipofuscinoses.. Biochim Biophys Acta, 1832(11), 1831 - 1841. doi:10.1016/j.bbadis.2012.12.010
    • 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
    • Tarkar A, Loges NT, Slagle CE, Francis R, Dougherty GW, Tamayo JV, Shook B, Cantino M, Schwartz D, Jahnke C, Olbrich H, Werner C, Raidt J, Pennekamp P, Abouhamed M, Hjeij R, Kohler G, Griese M, Li Y, Lemke K, Klena N, Liu X, Gabriel G, Tobita K, Jaspers M, Morgan LC, Shapiro AJ, Letteboer SJ, Mans DA, Carson JL, Leigh MW, Wolf WE, Chen S, Lucas JS, Onoufriadis A, Plagnol V, Schmidts M, Boldt K, uk10k , Roepman R, Zariwala MA, Lo CW, Mitchison HM, Knowles MR, Burdine RD, Loturco JJ, Omran H (2013). DYX1C1 is required for axonemal dynein assembly and ciliary motility.. Nature Genetics, , - . doi:10.1038/ng.2707
    • 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

    2012

    • Mitchison HM, Schmidts M, Loges NT, Freshour J, Dritsoula A, Hirst RA, O'Callaghan C, Blau H, Al Dabbagh M, Olbrich H, Beales PL, Yagi T, Mussaffi H, Chung EM, Omran H, Mitchell DR (2012). Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.. Nat Genet, 44(4), 381 - S2. doi:10.1038/ng.1106
    • Olbrich H, Schmidts M, Werner C, Onoufriadis A, Loges NT, Raidt J, Banki NF, Shoemark A, Burgoyne T, Al TS, Hurles ME, UK10 Consortium , Kohler G, Schroeder J, Nurnberg G, Nurnberg P, Chung EM, Reinhardt R, Marthin JK, Nielsen KG, Mitchison HM, Omran H (2012). Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. Am J Hum Genet, 91, 672 - 684.
    • 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, - .
    • 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.
    • Panizzi JR, Becker-Heck A, Castleman VH, Al-Mutairi DA, Liu Y, Loges NT, Pathak N, Austin-Tse C, Sheridan E, Schmidts M, Olbrich H, Werner C, Häffner K, Hellman N, Chodhari R, Gupta A, Kramer-Zucker A, Olale F, Burdine RD, Schier AF, O'Callaghan C, Chung EM, Reinhardt R, Mitchison HM, King SM, Omran H, Drummond IA (2012). CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.. Nat Genet, 44(6), 714 - 719. doi:10.1038/ng.2277

    2011

    • Aberg L, Autti T, Braulke T, Cooper JD, van Diggelen O, Jalanko A, Kenrick S, Kitzmuller C, Kohlschutter A, Kyttala A, Mitchison HM, Mole SE, Niezen-de Boer R, Punkari M-L, Schulz A, Talling M, Williams RE (2011). CLN3. In Mole SE, Williams R, Goebel H (Ed.), The Neuronal Ceroid Lipofuscinoses (Batten Disease) (pp. - ). : Oxford Univ Pr.
    • Salek RM, Pears MR, Cooper JD, Mitchison HM, Pearce DA, Mortishire-Smith RJ, Griffin JL (2011). A metabolomic comparison of mouse models of the Neuronal Ceroid Lipofuscinoses.. J Biomol NMR, 49(3-4), 175 - 184. doi:10.1007/s10858-011-9491-7

    2010

    • Mitchison TJ, Mitchison HM (2010). Cell biology: How cilia beat.. Nature, 463(7279), 308 - 309. doi:10.1038/463308a
    • Mitchison HM, Freshour J, Olbrich H, Blau H, Gardiner RM, Mussaffi H, Omran H, Chung EMK, Mitchell DR (2010). Mutations in the dynein assembly factor PF22 cause primary ciliary dyskinesia with absent outer dynein arms.
    • Reish O, Slatkin M, Chapman-Shimshoni D, Elizur A, Chioza B, Castleman V, Mitchison HM (2010). Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families.. Ann Hum Genet, 74(2), 117 - 125. doi:10.1111/j.1469-1809.2009.00559.x

    2009

    • Bush A, Hogg C, Mitchison HM, Nisbet M, Wilson R (2009). Update in primary ciliary dyskinesia. Clinical Pulmonary Medicine, 16, 219 - 225.
    • Andersson AM, Dihanich S, Williams BP, Mitchison HM, Rezaie P, Cooper JD (2009). Evidence for altered microglial responses in juvenile Batten disease.
    • Castleman VH, Romio L, Chodhari R, Hirst RA, de Castro SC, Parker KA, Ybot-Gonzalez P, Emes RD, Wilson SW, Wallis C, Johnson CA, Herrera RJ, Rutman A, Dixon M, Shoemark A, Bush A, Hogg C, Gardiner RM, Reish O, Greene ND, O 'Callaghan C, Purton S, Chung EM, Mitchison HM (2009). Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities.. The American Journal of Human Genetics, 84(2), 197 - 209. doi:10.1016/j.ajhg.2009.01.011

    2008

    • Loges NT, Olbrich H, Fenske L, Mussaffi H, Horvath J, Fliegauf M, Kuhl H, Baktai G, Peterffy E, Chodhari R, Chung EM, Rutman A, O'Callaghan C, Blau H, Tiszlavicz L, Voelkel K, Witt M, Zietkiewicz E, Neesen J, Reinhardt R, Mitchison HM, Omran H (2008). DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.. Am J Hum Genet, 83(5), 547 - 558. doi:10.1016/j.ajhg.2008.10.001
    • Everett KV, Chioza BA, Georgoula C, Reece A, Capon F, Parker KA, Cord-Udy C, McKeigue P, Mitton S, Pierro A, Puri P, Mitchison HM, Chung EM, Gardiner RM (2008). Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23. Am J Hum Genet, 82, 756 - 762.
    • Chan CH, Mitchison HM, Pearce DA (2008). Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models.. Hum Mol Genet, 17(21), 3332 - 3339. doi:10.1093/hmg/ddn228
    • Metcalf DJ, Calvi AA, Seaman MNJ, Mitchison HM, Cutler DF (2008). Loss of the Batten disease gene CLN3 prevents exit from the TGN of the mannose 6-phosphate receptor.. Traffic, 9(11), 1905 - 1914. doi:10.1111/j.1600-0854.2008.00807.x

    2007

    • Pohl S, Mitchison HM, Kohlschutter A, Braulke T, Storch S (2007). Novel biomarker of a neurodegenerative disease: Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue. J INHERIT METAB DIS, 30, 92 - 92.
    • Pohl S, Mitchison HM, Kohlschütter A, van Diggelen O, Braulke T, Storch S (2007). Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue.. J Neurochem, 103(6), 2177 - 2188. doi:10.1111/j.1471-4159.2007.04920.x
    • Castleman V, Chodhar R, O'Callaghan C, Reish O, Wallis C, Gardiner RM, Chung EMK, Mitchison HM (2007). Identification of a novel gene for primary ciliary dyskinesia.
    • Pears MR, Rubtsov D, Mitchison HM, Cooper JD, Pearce DA, Ortishire-Smith RJM, Griffin JL (2007). Strategies for data analyses in a high resolution H-1 NMR based metabolomics study of a mouse model of Batten disease. METABOLOMICS, 3(2), 121 - 136. doi:10.1007/s11306-007-0051-9
    • Bush A, Chodhari R, Collins N, Copeland F, Hall P, Harcourt J, Hariri M, Hogg C, Lucas J, Mitchison HM, O'Callaghan C, Phillips G (2007). Primary ciliary dyskinesia: current state of the art.. Arch Dis Child, 92(12), 1136 - 1140. doi:10.1136/adc.2006.096958

    2006

    • Luiro K, Kopra O, Blom T, Gentile M, Mitchison HM, Hovatta I, Törnquist K, Jalanko A (2006). Batten disease (JNCL) is linked to disturbances in mitochondrial, cytoskeletal, and synaptic compartments.. J Neurosci Res, 84(5), 1124 - 1138. doi:10.1002/jnr.21015
    • Zariwala MA, Leigh MW, Ceppa F, Kennedy MP, Noone PG, Carson JL, Hazucha MJ, Lori A, Horvath J, Olbrich H, Loges NT, Bridoux AM, Pennarun G, Duriez B, Escudier E, Mitchison HM, Chodhari R, Chung EM, Morgan LC, de Iongh RU, Rutland J, Pradal U, Omran H, Amselem S, Knowles MR (2006). Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. American Journal of Respiratory and Critical Care Medicine, 174(8), 858 - 866. doi:10.1164/rccm.200603-370OC
    • Cooper JD, Russell C, Mitchison HM (2006). Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis.. Biochim Biophys Acta, 1762(10), 873 - 889. doi:10.1016/j.bbadis.2006.08.002
    • Ferkol T, Mitchison HM, O'Callaghan C, Leigh M, Carson J, Lie H, Rosenbluth D, Brody SL (2006). Current Issues in the Basic Mechanisms, Pathophysiology, Diagnosis, and Management of Primary Ciliary Dyskinesia. In Frey U, Gerritsen J (Ed.), European Respiratory Society Monograph (pp. 1 - 24). : Maney Publishing.

    2005

    • Zariwala M, Kennedy MP, Leigh MW, Noone PG, Horvath J, Omran H, Mitchison HM, Chodhari R, Chung EKK, Morgan LM, De Iongh RU, Rutland J, Pradal U, Knowles MR (2005). Mutation analyses of DNAI1 in large cohort of patients with Primary Ciliary Dyskinesia (PCD)[abstract 2199]..
    • Horvath J, Olbrich H, Fliegauf M, Kispert A, King SM, Mitchison HM, Zariwala MA, Knowles MR, Sudbrak R, Reinhardt R, Omran H (2005). Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients.. American Journal of Respiratory Cell and Molecular Biology, 33, 41 - 47.
    • Pears MR, Cooper JD, Mitchison HM, Mortishire-Smith RJ, Pearce DA, Griffin JL (2005). High resolution 1H NMR-based metabolomics indicates a neurotransmitter cycling deficit in cerebral tissue from a mouse model of Batten disease.. Journal of Biological Chemistry, 280(52), 42508 - 42514. doi:10.1074/jbc.M507380200

    2004

    • Mitchison HM, Lim MJ, Cooper JD (2004). Selectivity and types of cell death in the neuronal ceroid lipofuscinoses (NCLs). Brain Pathology, 14(1), 86 - 96.
    • Chodhari R, Mitchison HM, Meeks M (2004). Cilia, primary ciliary dyskinesia and molecular genetics. Paediatric Respiratory Reviews, 5(1), 69 - 76.
    • Pears MR, Mitchison H, Cooper J, Mortishire-Smith R, Griffin JL (2004). A test case for metabonomics/metabolomics as a screening tool for neurological disorders: a bioinformatics approach to the study of Batten Disease.
    • Narayan SB, Pastor JV, Mitchison HM, Bennett MJ (2004). CLN3L, a novel protein related to the Batten disease protein, is overexpressed in Cln3-/- mice and in Batten disease.. Brain, 127(Pt 8), 1748 - 1754. doi:10.1093/brain/awh195
    • Pontikis CC, Cella CV, Parihar N, Lim MJ, Chakrabarti S, Mitchison HM, Mobley WC, Rezaie P, Pearce DA, Cooper JD (2004). Late onset neurodegeneration in the Cln3-/- mouse model of juvenile neuronal ceroid lipofuscinosis is preceded by low level glial activation.. Brain Res, 1023(2), 231 - 242. doi:10.1016/j.brainres.2004.07.030
    • Jeganathan D, Chodhari R, Meeks M, Faeroe O, Smyth D, Nielson K, Amirav I, Luder AS, Bisgaard H, Gardiner RM, Chung EM, Mitchison HM (2004). Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates. Journal of Medical Genetics, 41(3), 233 - 240. doi:10.1136/jmg.2003.014084
    • McManus IC, Martin N, Stubbings GF, Chung EM, Mitchison HM (2004). Handedness and situs inversus in primary ciliary dyskinesia. Proceedings of the Royal Society B: Biological Sciences, 271(1557), 2579 - 2582. doi:10.1098/rspb.2004.2881

    2003

    • Harbord M, Hankin A, Bloom S, Mitchison H (2003). Association between p47phox pseudogenes and inflammatory bowel disease. BLOOD, 101(8), 3337 - .
    • Brooks AI, Chattopadhyay S, Mitchison HM, Nussbaum RL, Pearce DA (2003). Functional categorization of gene expression changes in the cerebellum of a Cln3-knockout mouse model for Batten disease. Molecular Genetics and Metabolism, 78(1), 17 - 30.
    • Zariwala M, Noone PG, Leigh MW, De Iongh RU, Morgan LM, Horvath J, Omran H, Mitchison H, Knowles MR (2003). Novel disease-causing mutations in DNAI1 gene in primary ciliary dyskinesia (PCD).
    • Zariwala M, Noone PG, Leigh MW, De Longh RU, Morgan LM, Horvath J, Omran H, Mitchison HM, Knowles MR (2003). Novel disease-causing mutations in DNAI1 gene in Primary Ciliary Dyskinesia (PCD).
    • McManus IC, Mitchison HM, Chung EM, Stubbings GF, Martin N (2003). Primary ciliary dyskinesia (Siewert's / Kartagener's Syndrome): Respiratory symptoms and psycho-social impact. BMC Pulmonary Medicine, 3(1), 4 - .

    2002

    • Bartoloni L, Blouin JL, Pan Y, Gehrig C, Maiti AK, Scamuffa N, Rossier C, Jorissen M, Armengot M, Meeks M, Mitchison HM, Chung EM, DeLozier-Blanchet CD, Craigen WJ, Antonarakis SE (2002). Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. Proceedings of the National Academy of Sciences of the United States of America, 99(16), 10282 - 10286. doi:10.1073/pnas.152337699
    • Seigel GM, Lotery A, Kummer A, Bernard DJ, Greene ND, Turmaine M, Derksen T, Nussbaum RL, Davidson B, Wagner J, Mitchison HM (2002). Retinal pathology and function in a Cln3 knockout mouse model of juvenile Neuronal Ceroid Lipofuscinosis (Batten disease).. Molecular and Cellular Neuroscience, 19(4), 515 - 527. doi:10.1006/mcne.2001.1099
    • Olbrich H, Haffner K, Andreas K, Volkel A, Sasmaz G, Reinhardt R, Hennig S, Lehrach H, Konietzko N, Zariwala M, Noone PG, Knowles M, Mitchison HM, Meeks M, Chung EMK, Hildebrandt F, Sudbrak R, Omran H (2002). Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.
    • Seigel GM, Lotery A, Kummer A, Turmaine M, Davidson B, Wagner J, Mitchison HM (2002). Continued retinal function despite NCL pathology in a Cln3 knockout mouse model of juvenile neuronal ceroid lipofuscinosis (Batten disease).
    • Blouin JL, Gehrig C, Armengot M, Rutishauser M, Jorissen M, Jeganathan D, Bartoloni L, Rossier C, Duriaux-Sail G, Scamuffa N, Mitchison H, DeLozier-Blanchet CD, Antonarakis SE (2002). DNAH3: Characterization of the sequence and mutation search in patients with Primary Ciliary Dyskinesia.
    • Olbrich H, Haffner K, Kispert A, Volkel A, Volz A, Sasmaz G, Reinhardt R, Hennig S, Lehrach H, Konietzko N, Zariwala M, Noone PG, Knowles M, Mitchison HM, Meeks M, Chung EM, Hildebrandt F, Sudbrak R, Omran H (2002). Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nature Genetics, 30(2), 143 - 144. doi:10.1038/ng817

    2001

    • Jeganathan D, Meeks M, Gehrig C, Walne AJ, Dunn MG, Bisgaard H, Blouin JL, Gardiner RM, Chung EMK, Mitchison HM (2001). A genome wide scan reveals a putative novel locus for primary ciliary dyskinesia (PCD) in the Faeroe Island population.. AM J HUM GENET, 69(4), 525 - 525.
    • Gardiner M, Mole S, Mitchison H (2001). The 8th International Congress on Neuronal Ceroid Lipofuscinoses (Batten Disease). European Journal of Paediatric Neurology, 5(SUPPL. A), 1 - 1. doi:10.1053/ejpn.2001.0395
    • Spiden SL, Mitchison HM (2001). Homozygosity mapping as an approach for identifying genes involved in primary ciliary dyskinesia. In Salathe M, Satir P, Adler KB, Boucher RC (Ed.), Cilia, Mucus and Mucociliary Interactions (pp. 109 - 117). : Marcel Dekker Inc..
    • Greene ND, Lythgoe MF, Thomas DL, Nussbaum RL, Bernard DJ, Mitchison HM (2001). High resolution MRI reveals global changes in brains of Cln3 mutant mice.. Eur J Paediatr Neurol, 5 Suppl A, 103 - 107.
    • Greene NDE, Lythgoe MF, Thomas DL, Nussbaum RL, Bernard DJ, Mitchison HM (2001). High resolution MRI reveals global changes in brains of Cln3 mutant mice. European Journal of Paediatric Neurology, 5 Supp, 103 - 107.
    • Meeks M, Walne A, Spiden S, Simpson H, MussaffiGeorgy H, Hamam HD, Fehaid E, Cheehab M, AlDabbagh M, PolakCharcon S, Blau H, ORawe A, Mitchison HM, Gardiner RM, Chung E (2001). A locus for primary ciliary dyskinesia maps to chromosome 19q (vol 37, pg 241, 2000). J MED GENET, 38(12), 894 - 894.
    • Mitchison HM, Mole SE (2001). Neurodegenerative disease: the neuronal ceroid lipofuscinoses (Batten disease). Current Opinion in Neurology, 14(6), 795 - 803.
    • Blouin JL, Gehrig C, Jeganathan D, Bartoloni L, Rossier C, Duriaux-Sail G, Mitchison HM, DeLozier-Blanchet CD, Antonarakis SE (2001). DNAH3: characterisation of the full length gene and mutation search in patients with Primary Ciliary Dyskinesia.
    • Blouin JLC, Gehrig C, Jeganathan D, Bartoloni L, Rossier C, Duriaux-Sail G, Scamuffa N, Mitchison HM, DeLozier-Blanchet CD, Antonarakis SE (2001). DNAH3: characterisation of the full length gene and mutation search in patients with Primary Ciliary Dyskinesia.. AM J HUM GENET, 69(4), 367 - 367.

    2000

    • Mitchison HM, Bernard DJ, Greene NDE, Cooper JD, Junaid MA, Pullarkat RK, de Vos N, Breuning MH, Owens JW, Mobley WC, Gardiner RM, Lake BD, Taschner PEM, Nussbaum RL (2000). Targeted disruption of the Cln3 gene provides a mouse model for Batten disease (vol 6, pg 321, 1999). NEUROBIOL DIS, 7(2), 127 - 127.
    • Maiti AK, Bartoloni L, Mitchison HM, Meeks M, Chung E, Spiden S, Gehrig C, Rossier C, DeLozier-Blanchet CD, Blouin J, Gardiner RM, Antonarakis SE (2000). No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD).. Cytogenet Cell Genet, 90(1-2), 119 - 122.
    • Seigel GM, Bernard DJ, Greene NDE, Nussbaum RL, Wagner J, Pearce DA, Mitchison HM (2000). Retinal apoptosis and lipofuscin accumulation in a Cln3 knock-out mouse model of Batten disease.
    • Spiden SL, Meeks M, Walne AJ, Gardiner RM, Chung EMK, Mitchison HM (2000). Refinement of the genetic and physical map of a primary ciliary dyskinesia locus (CILD2) on chromosome 19q13.4.
    • Mitchison HM, Bernard DJ, Greene ND, Cooper JD, Junaid MA, Pullarkat RK, De Vos N, Breuning MH, Owens JW, Mobley WC, Gardiner RM, Lake BD, Taschner PE, Nussbaum RL (2000). Erratum: Targeted disruption of the Cln3 gene provides a mouse model for Batten disease (Neurobiology of Diseases (1999) 4:5 (321-334)). Neurobiology of Disease, 7(2), 127 - 127. doi:10.1006/nbdi.2000.0281
    • Meeks M, Walne A, Spiden S, Simpson H, Mussaffi-Georgy H, Hamam HD, Fehaid EL, Cheehab M, Al Dabbagh M, Polak-Charcon S, Blau H, O'Rawe A, Mitchison HM, Gardiner RM, Chung E (2000). A locus for primary ciliary dyskinesia maps to chromosome 19q. Journal of Medical Genetics, 37(4), 241 - 244.
    • Maiti AK, Bartoloni L, Mitchison HM, Meeks M, Chung E, Spiden S, Gehrig C, Rossier C, DeLozier-Blanchet CD, Blouin J, Gardiner RM, Antonarakis SE (2000). No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD). Cytogenetics and Cell Genetics, 90(1-2), 119 - 122.
    • Meeks M, Walne A, Spiden S, Simpson H, Mussaffi-Georgy H, Hamam HD, Fehaid EL, Cheehab M, Al-Dabbagh M, Polak-Charcon S, Blau H, O'Rawe A, Mitchison HM, Gardiner RM, Chung E (2000). A locus for primary ciliary dyskinesia maps to chromosome 19q.. J Med Genet, 37(4), 241 - 244.

    1999

    • Greene DE, Bernard DL, Taschner PEM, Lake BD, De Vos N, Breuning MH, Gardiner RM, Mole SE, Nussbaum RL, Mitchison HM (1999). Erratum: A murine model for Juvenile NCL: Gene targeting of mouse Cln3 (Molecular Genetics and Metabolism (1999) 66:4 (309-313)). Molecular Genetics and Metabolism, 67(4), 368 - 368. doi:10.1006/mgme.1999.2902
    • Lingaas F, Mitchison HM, Mole SE, Koppang N, Goebel HH, Lake BD (1999). Animal models of NCL. In Goebel HH, Mole SE, Lake BD (Ed.), The Neuronal Ceroid Lipofuscinoses (Batten disease) (pp. 152 - 167). : IOS Press.
    • Mitchison HM, Bernard DJ, Greene ND, Cooper JD, Junaid MA, Pullarkat RK, de Vos N, Breuning MH, Owens JW, Mobley WC, Gardiner RM, Lake BD, Taschner PE, Nussbaum RL (1999). Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium [corrected].. Neurobiol Dis, 6(5), 321 - 334. doi:10.1006/nbdi.1999.0267
    • Lam HD, Mitchison HM, Greene NDE, Nussbaum RL, Mobley WC, Cooper CE (1999). Pathologic involvement of interneurons in mouse models of neuronal ceroid lipofuscinosis.
    • Isosomppi J, Heinonen O, Hiltunen JO, Greene ND, Vesa J, Uusitalo A, Mitchison HM, Saarma M, Jalanko A, Peltonen L (1999). Developmental expression of palmitoyl protein thioesterase in normal mice.. Brain Res Dev Brain Res, 118(1-2), 1 - 11.
    • Mole SE, Mitchison HM, Munroe PB (1999). Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5. Human Mutation, 14(3), 199 - 215.
    • Mitchison HM, Walne AJ, Spiden SL, Blau H, Mussaffi-Georgy H, Simpson H, El Fehaid M, Cheehab M, Al-Dabbagh M, Hammum HD, Gardiner RM, Chung EMK, Meeks M (1999). Identification of a locus for primary ciliary dyskinesia (PCD; Kartagener syndrome) on chromosome 19.. AM J HUM GENET, 65(4), A31 - A31.
    • Greene NDE, Bernard DL, Taschner PEM, Lake BD, de Vos N, Breuning MH, Gardiner RM, Mole SE, Nussbaum RL, Mitchison HM (1999). A murine model for juvenile NCL: Gene targeting of mouse CLn3 (vol 66, pg 309, 1999). MOL GENET METAB, 67(4), 368 - 368.
    • Isosomppi J, Heinonen O, Hiltunen JO, Greene ND, Vesa J, Uusitalo A, Mitchison HM, Saarma M, Jalanko A, Peltonen L (1999). Developmental expression of palmitoyl protein thioesterase in normal mice. BRAIN RESEARCH DEVELOPMENTAL BRAIN RESEARCH, 118(1-2), 1 - 11.
    • Mitchison HM, Greene ND, Leung KY, Williams RE, Wheeler R, Sharp JD, Mitchell W, Gardiner RM (1999). The Neuronal Ceroid Lipofuscinoses.
    • Stephenson JB, Greene ND, Leung KY, Munroe PB, Mole SE, Gardiner RM, Taschner PE, O'Regan M, Naismith K, Crow YJ, Mitchison HM (1999). The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland.. MOLECULAR GENETICS AND METABOLISM, 66(4), 245 - 247.
    • Lauronen L, Munroe PB, Jarvela I, Autti T, Mitchison HM, O'Rawe AM, Gardiner RM, Mole SE, Puranen J, Hakkinen AM, Kirveskari E, Santavuori P (1999). Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis. Neurology, 52(2), 360 - 365.
    • Hofman I, Kohlschutter A, Santavuori P, Gottlob I, Lake BD, Schutgens RBH, Greene NDE, Leung KY, Mitchison HM, Munroe PB, Taschner PEM (1999). CLN3 - Juvenile NCL.. In Goebel HH, Mole SE, Lake BD (Ed.), The Neuronal Ceroid Lipofuscinoses (Batten disease). (pp. 55 - 76). : IOS Press.
    • Greene ND, Bernard DL, Taschner PE, Lake BD, de Vos N, Breuning MH, Gardiner RM, Mole SE, Nussbaum RL, Mitchison HM (1999). A murine model for juvenile NCL: gene targeting of mouse CLN3. MOLECULAR GENETICS AND METABOLISM, 66(4), 309 - 313.

    1998

    • Mitchison NA, Siegel RM, Mitchison HM, Muller B (1998). Natural variation in the immune system.
    • Mitchison HM, Hofmann SL, Becerra CHR, Munroe PB, Lake BD, Crow YJ, Stephenson JBP, Williams RE, Hofman IL, Taschner PEM, Martin J-J, Philippart M, Andermann E, Andermann F, Mole SE, Gardiner RM, O'Rawe AM (1998). Corrigendum: Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits (Human Molecular Genetics (1998) 7 (291-297)). Human Molecular Genetics, 7(4), 765 - 765.
    • Greene NDE, Leung KY, Munroe PB, Stephenson JBP, Crow YJ, Gardiner RM, Mitchison HM (1998). Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland.
    • Mitchison HM, Hofmann SL, Becerra CHR, Munroe PB, Lake BD, Crow YJ, Stephenson JBP, Williams RE, Hofman IL, Taschner PEM, Martin J, Philippart M, Andermann E, Andermann F, Mole SE, Gardiner RM, O'Rawe AM (1998). Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. Human Molecular Genetics, 7, 291 - 297.
    • Munroe PB, Greene NDE, Leung K, Mole SE, Gardiner RM, Mitchison HM, Stephenson JBP, Crow YJ (1998). Sharing of mutations between distinct clinical forms of neuronal ceroid lipofuscinosis in patients from Scotland. Journal of Medical Genetics, 35, 790 - 790.

    1997

    • Munroe PB, O'Rawe AM, Mitchison HM, Jarvela IE, Santavuori P, Lerner TJ, Taschner PEM, Gardiner RM, Mole SE (1997). Strategy for mutation detection in CLN3: characterisation of two Finnish mutations. Neuropediatrics, 28, 15 - 17.
    • Jarvela IE, Mitchison HM, Munroe PB, O'Rawe AM, Mole SE, Syvanen A (1997). Rapid diagnostic test for the major mutation underlying Batten disease. Journal of Medical Genetics, 33, 1041 - 1042.
    • Munroe PB, Mitchison HM, O'Rawe AM, Anderson JW, Boustany RN, Lerner TJ, Taschner PEM, de Vos N, Breuning MH, Gardiner RM, Mole SE (1997). Spectrum of mutations in the Batten disease gene, CLN3. The American Journal of Human Genetics, 61, 310 - 316.
    • Mitchison HM, Hofmann SL, Becerra CHR, Munroe PB, Gardiner RM, Mole SE, O'Rawe AM (1997). A variant of juvenile-onset Batten disease is allelic with infantile Batten disease.
    • Mitchison NA, Muller B, Mitchison HM, Clarke J, Daser A (1997). Two sources of programmed flexibility in the immune system: variation in structural and regulatory gene segments. In Lukic ML, Colic M, Mostarica-Stojkovic M, Cuperlovic K (Ed.), Immunoregulation in Health and Disease (pp. - ). : Academic Press.
    • Mitchison HM, Taschner PEM, Kremmidiotis G, Callen DF, Doggett NA, Lerner TJ, Janes RB, Wallace BA, Munroe PB, O'Rawe AM, Gardiner RM, Mole SE (1997). Structure of the CLN3 gene and predicted structure, location and function of CLN3 protein. Neuropediatrics, 28, 12 - 14.
    • O'Rawe A, Mitchison HM, Williams RE, Wheeler RB, Andermann E, Andermann F, Hart YM, Martin J, Philippart M, Stephenson JBP, Gardiner RM, Mole SE (1997). Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits. Neuropediatrics, 28, 21 - 22.
    • Mitchison HM, Munroe PB, O'Rawe AM, Taschner PEM, de Vos N, Kremmidiotis G, Lensink I, Munk CA, D'Arigo KL, Anderson JW, Lerner TJ, Moyzis RK, Callen DF, Breuning MH, Doggett NA, Gardiner RM, Mole SE (1997). Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3. Genomics, 40, 346 - 350.

    1996

    • Janes RW, Munroe PM, Mitchison HM, Gardiner RM, Mole SE, Wallace BB (1996). A model for Batten disease protein CLN3: functional implications from homology and mutations. Federation of European Biochemical Societies Letters, 399, 75 - 77.
    • Daser A, Mitchison HM, Mitchison NA, Muller B (1996). Non-classical-MHC genetics of immunological disease in man and mouse. The key role of pro-inflammatory cytokine genes.. Cytokine and Growth Factor Reviews, 8, 593 - 597.
    • Mole SE, Greenham JA, Creavin TA, Doggett NA, Jarvela IE, Mitchison HM, Munroe PB (1996). Physical and transcriptional mapping of 16p12.3-p12.1. CYTOGENET CELL GENET, 72(4), 17 - 17.
    • Munroe PB, Rapola J, Mitchison HM, Mustonen A, Mole SE, Gardiner RM, Jarvela I (1996). Prenatal diagnosis of Batten's disease. The Lancet, 347, 1014 - 1015.

    1995

    • Mitchison HM, O'Rawe AM, Taschner PEM, Sandkuijl LA, Santavuori P, de Vos N, Breuning MH, Mole SE, Gardiner RM, Jarvela IE (1995). Batten disease, CLN3: Linkage disequilibrium mapping in the Finnish population and analysis of European haplotypes.. American Journal of Human Genetics, 56, 654 - 662.
    • Järvelä IE, Mitchison HM, O'Rawe AM, Munroe PB, Taschner PEM, de Vos N, Lerner TJ, D'Arigo KL, Callen DF, Thompson AD, Knight M, Marrone BL, Mundt MO, Meincke L, Breuning MH, Gardiner RM, Doggett NA, Mole SE (1995). YAC and cosmid contigs spanning the Batten disease (CLN3) region at 16p12.1-p11.2. Genomics, 29, 478 - 489.
    • Munroe PB, Mitchison HM, Dooley TP, Gardiner RM, Mole SE (1995). Analysis of Batten disease candidate genes STP and STM. American Journal of Medical Genetics Part A, 57, 324 - 326.
    • Mitchison HM, O'Rawe AM, Taschner PEM, Sandkuijl LA, Santavuori P, de Vos N, Breuning MH, Mole SE, GardinerR M J, I E (1995). Batten disease, CLN3: Linkage disequilibrium mapping in the Finnish population and analysis of European haplotypes. The American Journal of Human Genetics, 56, 654 - 662.
    • LERNER TJ, KREMMIDIOTIS G, BOUSTANY RMN, ANDERSON JW, DARIGO KL, BUCKLER AJ, GUSELLA JF, TASCHNER PEM, DEVOS N, MEINCKE LJ, MITCHISON HM, ORAWE A, MUNROE PB, JARVELA IE, LENSINK IL, GARDINER RM, SUTHERLAND GR, CALLEN DF, DOGGETT NA, BREUNING MH, MOLE SE, HAINES JL (1995). BATTEN-DISEASE .1. ISOLATION OF A CANDIDATE GENE FOR CLN3. AM J HUM GENET, 57(4), 23 - 23.
    • TASCHNER PEM, MITCHISON HM, KREMMIDIOTIS G, ORAWE A, MUNROE PB, DEVOS N, BOUSTANY RM, LENSINK I, MEINCKE LJ, ANDERSON JW, DARIGO KL, JARVELA IE, BUCKLER AJ, GUSELLA JF, HAINES JL, GARDINER RM, SUTHERLAND GR, DOGGETT NA, CALLEN DF, MOLE SE, LERNER TJ, BREUNING MH (1995). BATTEN-DISEASE .2. GENOMIC ALTERATIONS IN CLN3. AM J HUM GENET, 57(4), 1328 - 1328.
    • MITCHISON HM, MUNROE PB, ORAWE AM, TASCHNER PEM, KREMMIDIOTIS G, LENSINK I, MEINCKE LI, DARIGO KL, DEVOS N, GARDINER RM, CALLEN DF, BREUNING MH, LERNER TI, DOGGETT NA, MOLE SE (1995). BATTEN-DISEASE .3. GENOMIC STRUCTURE OF A CANDIDATE FOR CLN3. AM J HUM GENET, 57(4), 836 - 836.
    • TL Lerner R-MB, JW Anderson KLD, Schlumpf K, Buckler AJ, Gusella JF, Haines JL, Kremmidiotis G, Lensink IL, Sutherland GR, Callen DF, Taschner PEM, de Vos N, van Ommen G-JB, Breuning MH, Doggett NA, Meincke LJ, Liu Z-Y, Goodwin LA, Tesmer JG, Mitchison HM, O'Rawe AM, Munroe PB, Järvelä IE, Gardiner RM, Mole S (1995). Isolation of a novel gene underlying Batten disease, (CLN3). Cell, 82, 949 - 957.
    • JARVELA IE, MITCHISON HM, GARDINER RM, CALLEN DF, BREUNING MH, LEMER TJ, MOLE SE, DOGGETT NA, DOOLEY TP (1995). LONG-RANGE RESTRICTION MAP OF A YAC CONTIG IN THE BATTEN-DISEASE REGION OF CHROMOSOME-16 AND EXCLUSION OF POTENTIAL CANDIDATE GENES FROM THIS REGION. CYTOGENET CELL GENET, 68(3-4), 183 - 184.
    • Dooley TP, Probst P, Obermoeller RD, Sicilano M, Doggett NA, Callen DF, Mitchison HM, Mole SE (1995). Phenol sulfotransferases: Candidate genes for Batten disease. American Journal of Medical Genetics Part A, 57, 327 - 332.
    • Järvelä IE, Mitchison HM, Callen DF, Lerner TJ, Doggett NA, Taschner PEM, GardinerR M M, S E (1995). Physical map of the region containing the gene for Batten disease (CLN3). American Journal of Medical Genetics Part A, 57, 316 - 319.
    • Dooley TP, Probst P, Obermoeller RD, Siciliano MJ, Doggett NA, Callen DF, Mitchison HM, Mole SE (1995). Physical map of the region containing the gene for Batten disease (CLN3).. American Journal of Medical Genetics Part A, 57, 327 - 332.
    • Mitchison HM, O'Rawe AM, Lerner TJ, Taschner PEM, Schlumpf K, D'Arigo K, de Vos N, Phillips HA, Thompson AD, Gormally E, Hart YM, Andermann E, Callen DF, Breuning MH, Gardiner RM, Mole SE (1995). Refined localisation of the Batten Disease gene (CLN3) by haplotype and linkage disequilibrium mapping to D16S288-D16S383 and exclusion from this region of a variant form of Batten disease with granular osmiophilic deposits. American Journal of Medical Genetics Part A, 57, 312 - 315.
    • Jarvela IE, Mitchison HM, O'Rawe AM, Munroe PB, Taschner PEM, de Vos N, Lerner TJ, D'Arigo KL, Callen DF, Thompson AD, Knight M, Marrone BL, Mundt MO, Meincke L, Breuning MH, Gardiner RM, Doggett NA, Mole SE (1995). YAC and cosmid contigs spanning the Batten disease (CLN3) region at 16p12.1-p11.2.. Genomics, 29, 478 - 489.

    1994

    • Mitchison HM, Taschner PEM, O'Rawe AM, de Vos N, Phillips HA, Thompson AD, Kozman HM, Haines JL, Schlumpf K, D'Arigo K, Boustany R-MN, Callen DF, Breuning MH, Gardiner RM, Mole SE, Lerner TJ (1994). Genetic mapping of the Batten Disease locus (CLN3) to the interval D16S288-D16S383 by analysis of haplotypes and allelic association. Genomics, 22, 465 - 468pm:7806.
    • Dooley TP, Mitchison HM, Munroe PB, Probst P, Neal M, Siciliano MJ, Deng Z, Doggett NA, Callen DF, GardinerR M MSE (1994). Mapping of two phenol sulphotransferase genes, STP and STM, to 16p: Candidate genes for Batten disease. Biochemical and Biophysical Research Communications, 205, 482 - 489.

    1993

    • Mitchison HM, Thompson AD, Mulley JC, Kozman HM, Richards RI, Callen DF, Stallings RL, Doggett NA, Attwood J, McKay TR (1993). Fine genetic mapping of the Batten disease locus (CLN3) by haplotype analysis and demonstration of allelic association with chromosome 16p microsatellite loci.. Genomics, 16(2), 455 - 460.
    • MITCHISON HM, ORAWE AM, THOMPSON AD, KNIGHT M, CALLEN DF, DOGGETT NA, GARDINER RM, MOLE SE (1993). GENETIC-MAPPING OF THE BATTEN-DISEASE LOCUS (CLN3) TO THE INTERVAL D16S288-D16S383 BY ANALYSIS OF HAPLOTYPES AND ALLELIC ASSOCIATION. AM J HUM GENET, 53(3), 1047 - 1047.
    • Williams R, Mitchison HM, McKay TR, Jarvela I, Gardiner RM (1993). Linkage analysis of late-infantile neuronal ceroid lipofuscinosis (CLN2) using markers on chromosome 16p.. Journal of Inherited Metabolic Disease, 16, 342 - 344.
    • Williams R, Vesa J, Jarvela I, McKay T, Mitchison HM, Hellsten E, Thompson A, Callen D, Sutherland G, Luna-Battadano D, Stallings R, Peltonen L (1993). Genetic heterogeneity in neuronal ceroid-lipofuscinosis (NCL) – evidence that the late-infantile subtype (Jansky-Bielschowsky disease CLN2) is not an allelic form of the juvenile or infantile subtypes.. American Journal of Human Genetics, 53, 931 - 935.
    • Mitchison HM, Williams RE, McKay TR, Callen DF, Thompson AD, Mulley JC, Stallings RL, Hildebrand CE, Moyzis RK, Järvelä I (1993). Refined genetic mapping of juvenile-onset neuronal ceroid-lipofuscinosis on chromosome 16.. J Inherit Metab Dis, 16(2), 339 - 341.

    1992

    • Doggett NA, Callen DF, Apostolou S, Chen LZ, Nancarrow JK, Whitmore SA, Harris P, Mitchison HM, Breuning M, Saris JJ, Fickett J, Cinkosky M, Torney M, Hildebrand CE (1992). Evaluation of a cosmid contig physical map of human chromosome 16.. Genomics, 13, 1031 - 1039.
    • MITCHISON HM, WILLIAMS RE, MCKAY TR, CALLEN DF, THOMPSON A, MULLEY JC, STALLINGS RL, HILDEBRAND CE, MOYZIS RK, JARVELA I, PELTONEN L, HAINES J, SUTHERLAND GR, GARDINER RM (1992). LINKAGE ANALYSIS OF NEURONAL CEROID LIPOFUSCINOSIS - REFINED MAPPING OF CLN3 AND EVIDENCE OF LOCUS HETEROGENEITY OF CLN3 AND CLN2. CYTOGENET CELL GENET, 60(3-4), 173 - 173.

    1991

    • MITCHISON HM, MCKAY TR, GARDINER RM (1991). FINE GENETIC-MAPPING OF THE JUVENILE ONSET CEROID LIPOFUSCINOSIS (BATTEN DISEASE) GENE CLN3. AM J HUM GENET, 49(4), 351 - 351.

    1990

    • Mitchison HM, Grand RJ, Byrd PJ, Johnson GD, Parton A, Gallimore PH (1990). The expression of the adenovirus 12 early region 1B 19K protein using a recombinant simian virus 40 system.. J Gen Virol, 71 ( Pt 8), 1713 - 1722.

    • Mitchison HM, Salathe M, Leigh M, Carson JL (). Primary Ciliary Dyskinesia. In (Ed.), Encyclopedia for Respiratory Medicine (pp. - ). : Elsevier ltd..
    • Onoufriadis A, Paff T, Antony D, Shoemark A, Micha D, Kuyt B, Schmidts M, Petridi S, Dankert-Roelse J, Harrman EG, Daniels JMA, Emes RD, Wilson R, Hogg C, Scambler PJ, Chung EMK, UK10K , Pals G, Mitchison HM (). Splice site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia. American Journal of Human Genetics, In press, - .