Recent Publications

Displaying 49 most recent publications. For the full list please visit UCL Discovery

1. Antony D,Becker-Heck A,Zariwala MA,Schmidts M,Onoufriadis A,Forouhan M,Wilson R,Taylor-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,Sagel SD,Rosenfeld M,Rutman A,Dixit A,O'Callaghan C,Lucas JS,Hogg C,Scambler PJ,Emes RD,Chung EMK,Shoemark A,Knowles MR,Omran H,Mitchison HM (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.
2. Onoufriadis A,Paff T,Antony D,Shoemark A,Micha D,Kuyt B,Schmidts M,Petridi S,Dankert-Roelse JE,Haarman EG,Daniels JMA,Emes RD,Wilson R,Hogg C,Scambler PJ,Chung EMK,Pals G,Mitchison HM (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.
3. 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.
4. 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. 10.1038/ng.2277.
5. Svenningsson A,Soderhall C,Persson S,Lundberg F,Luthman H,Chung E,Gardiner M,Kockum I,Nordenskjold A (2012) Genome-wide linkage analysis in families with infantile hypertrophic pyloric stenosis indicates novel susceptibility loci JOURNAL OF HUMAN GENETICS, 57(2), 115 - 121. 10.1038/jhg.2011.137.
6. 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.
7. 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. 10.1038/ng.1106.
8. 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 JOURNAL OF MEDICAL GENETICS, 47, S25 - S25.
9. Everett KV,Chioza BA,Georgoula C,Reece A,Gardiner RM,Chung EMK (2009) Infantile hypertrophic pyloric stenosis: evaluation of three positional candidate genes, TRPC1, TRPC5 and TRPC6, by association analysis and re-sequencing Human Genetics, 126(6), 819 - 831.
10. 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. 10.1016/j.ajhg.2009.01.011.
11. 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.
12. Chung E (2008) Infantile hypertrophic pyloric stenosis: genes and environment. Arch Dis Child, 93(12), 1003 - 1004. 10.1136/adc.2008.141499.
13. Reece A,Chung EM,Gardiner RM,Williams SE (2008) Competency domains in an undergraduate Objective Structured Clinical Examination: their impact on compensatory standard setting Medical Education, 42, 600 - 606.
14. Everett KV,Capon F,Georgoula C,Chioza BA,Reece A,Jaswon M,Pierro A,Puri P,Gardiner RM,Chung EM (2008) Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24. Eur J Hum Genet, 16(9), 1151 - 1154. 10.1038/ejhg.2008.86.
15. 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. 10.1016/j.ajhg.2008.10.001.
16. Capon F,Reece A,Ravindrarajah R,Chung E (2006) Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16p12-p13 and evidence for genetic heterogeneity The American Journal of Human Genetics, 79(2), 378 - 382. 10.1086/505952.
17. 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. 10.1164/rccm.200603-370OC.
18. 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]. The American Society of Human Genetics, Salt Lake City, Utah.
19. Capon F,Reece A,Nordenskjold A,Parker K,Rogers K,Gardiner M,Chung E (2005) Genetic analysis of /NOS1/ as a candidate gene for infantile hypertrophic pyloric stenosis The 7th International Meeting on Single Nucleotide Polymorphism and Complex Genome Analysis, Hinckley.
20. Capon F,Reece A,Nordenskjold A,Parker K,Rogers K,Gardiner M,Chung E (2005) Linkage and association analysis of /NOS1/ as a candidate gene for infantile hyperthrophic pyloric stenosis. Genomic studies and the HapMap Meeting, Oxford.
21. 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. 10.1136/jmg.2003.014084.
22. 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. 10.1098/rspb.2004.2881.
23. 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.
24. 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. 10.1038/ng817.
25. 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. 10.1073/pnas.152337699.
26. Bartoloni L,Blouin JL,Maiti AK,Sainsbury A,Rossier C,Gehrig C,She JX,Marron MP,Lander ES,Meeks M,Chung E,Armengot M,Jorissen M,Scott HS,Delozier-Blanchet CD,Gardiner RM,Antonarakis SE (2001) Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia GENOMICS, 72(1), 21 - 33. 10.1006/geno.2000.6462.
27. Jeganathan D,Meeks M,Gehrig C,Walne AJ,Gray M,Dunn MG,Falktoft H,Bisgaard H,Blouin JL,Gardiner RM,Chung EMK,Mitchison HM (2001) A genome wide scan reveals a putative locus for primary ciliary dyskinesia (PCD) in the Faeroe Island population American Journal of Human Genetics, 69, S525.
28. Bartoloni L,Blouin JL,Maiti AK,Sainsbury A,Rossier C,Gehrig C,She JX,Marron MP,Lander ES,Meeks M,Chung E,Armengot M,Jorissen M,Scott HS,DeLozier-Blanchet CD,Gardiner RM,Antonarakis SE (2001) Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia Genomics, 72(1), 21 - 33. 10.1006/geno.2000.6462.
29. 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 American Journal of Human Genetics, 67, 300.
30. Spiden SL,Meeks M,Walne AJ,Blau H,Mussaffi-Georgy H,Simpson H,El Fehaid M,Cheehab M,Al Dabbagh M,Hammum HD,Gardiner RM,Chung EMK,Mitchison HM (2000) Identification of a locus for primary ciliary dyskinesia on chromosome 19 Genetical Research (Cambridge), 76, 199.
31. 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.
32. Blouin JL,Meeks M,Radhakrishna U,Sainsbury A,Gehring C,Sail GD,Bartoloni L,Dombi V,O'Rawe A,Walne A,Chung E,Afzelius BA,Armengot M,Jorissen M,Schidlow DV,van Maldergem L,Walt H,Gardiner RM,Probst D,Guerne PA,Delozier-Blanchet CD,Antonarakis SE (2000) Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity EUR J HUM GENET, 8(2), 109 - 118.
33. Blouin JL,Meeks M,Radhakrishna U,Sainsbury A,Gehring C,Sail GD,Bartoloni L,Dombi V,O'Rawe A,Walne A,Chung E,Afzelius BA,Armengot M,Jorissen M,Schidlow DV,Van Maldergem L,Walt H,Gardiner RM,Probst D,Guerne PA,DeLozier-Blanchet CD,Antonarakis SE (2000) Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity European Journal of Human Genetics, 8(2), 109 - 118.
34. 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.
35. 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.
36. 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.
37. Munroe PB,Olgunturk RO,Fryns JP,Van Maldergem L,Ziereisen F,Yuksel B,Gardiner RM,Chung E (1999) Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome. Nat Genet, 21(1), 142 - 144. 10.1038/5102.
38. Munroe PB,Olgunturk RO,Fryns JP,Van Maldergem L,Ziereisen F,Yuksel B,Gardiner RM,Chung E (1999) Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome Nature Genetics, 21(1), 142 - 144.
39. Blouin JL,Radhakrishna U,Gehrig C,Sail GD,Sainsbury AJ,Bartoloni L,Meeks M,Dombi V,Probst D,Afzelius B,Armengot M,Chung E,Jorissen M,Schidlow DV,Gardiner RM,Walt H,Van Maldergam L,Guerne PA,Blanchet CDD,Antonarakis SE (1999) Primary Ciliary Dyskinesia: A genome-wide linkage analysis reveals extensive locus heterogeneity. AM J HUM GENET, 65(4), A244 - A244.
40. 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 American Journal of Human Genetics, Suppl, 157 - 157.
41. Chung E,Gardiner RM (1996) [8]Mapping human disease genes by linkage analysis Methods in Molecular Genetics, 8(C), 139 - 166.
42. Strautnieks SS,Thompson RJ,Hanukoglu A,Dillon MJ,Hanukoglu I,Kuhnle U,Seckl J,Gardiner RM,Chung E (1996) Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping Human Molecular Genetics, 5(2), 293 - 299.
43. Chung E,Curtis D,Chen G,Marsden PA,Twells R,Xu W,Gardiner M (1996) Genetic evidence for the neuronal nitric oxide synthase gene (NOS1) as a susceptibility locus for infantile pyloric stenosis. Am J Hum Genet, 58(2), 363 - 370.
44. Strautnieks SS,Thompson RJ,Gardiner RM,Chung E (1996) A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families. Nat Genet, 13(2), 248 - 250. 10.1038/ng0696-248.
45. Strautnieks SS,Thompson RJ,Hanukoglu A,Dillon MJ,Hanukoglu I,Kuhnle U,Seckl J,Gardiner RM,Chung E (1996) Localisation of pseudohypoaldosteronism genes to chromosome 16p12.2-13.11 and 12p13.1-pter by homozygosity mapping. Hum Mol Genet, 5(2), 293 - 299.
46. Chung E,Hanukoglu A,Rees M,Thompson R,Dillon M,Hanukoglu I,Bistritzer T,Kuhnle U,Seckl J,Gardiner RM (1995) Exclusion of the locus for autosomal recessive pseudohypoaldosteronism type 1 from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysis. J Clin Endocrinol Metab, 80(11), 3341 - 3345.
47. Rees M,Curtis D,Parker K,Sundqvist A,Baralle D,Bespalova IN,Burmeister M,Chung E,Gardiner RM,Whitehouse WP (1994) Linkage analysis of idiopathic generalised epilepsy in families of probands with Juvenile Myoclonic Epilepsy and marker loci in the region of EPM 1 on chromosome 21 q: Unverricht-Lundborg disease and JME are not allelic variants. Neuropediatrics, 25(1), 20 - 25. 10.1055/s-2008-1071576.
48. Chung E,Coffey R,Parker K,Tam P,Pembrey ME,Gardiner RM (1993) Linkage analysis of infantile pyloric stenosis and markers from chromosome 9q11-q33: no evidence for a major gene in this candidate region. J Med Genet, 30(5), 393 - 395.
49. 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.