| X-linked Alport syndrome: natural history in 195 families and genotype-phenotype correlations in males JP Jais, B Knebelmann, I Giatras, M De Marchi, G Rizzoni, A Renieri, ... Journal of the American Society of Nephrology 11 (4), 649-657, 2000 | 887* | 2000 |
| Identification of mutations in the α3 (IV) and α4 (IV) collagen genes in autosomal recessive Alport syndrome T Mochizuki, HH Lemmink, M Mariyama, C Antignac, MC Gubler, Y Pirson, ... Nature genetics 8 (1), 77-82, 1994 | 597 | 1994 |
| Identification of mutations in the α3 (IV) and α4 (IV) collagen genes in autosomal recessive Alport syndrome T Mochizuki, HH Lemmink, M Mariyama, C Antignac, MC Gubler, Y Pirson, ... Nature genetics 8 (1), 77-82, 1994 | 597 | 1994 |
| CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion JM Lee, EM Ramos, JH Lee, T Gillis, JS Mysore, MR Hayden, SC Warby, ... Neurology 78 (10), 690-695, 2012 | 416 | 2012 |
| Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome D Lederer, B Grisart, MC Digilio, V Benoit, M Crespin, SC Ghariani, ... The American Journal of Human Genetics 90 (1), 119-124, 2012 | 398 | 2012 |
| A conserved sorting-associated protein is mutantin chorea-acanthocytosis L Rampoldi, C Dobson-Stone Nat.Genet 28 (2), 119-120, 2001 | 371 | 2001 |
| CNGA3 mutations in hereditary cone photoreceptor disorders B Wissinger, D Gamer, H Jägle, R Giorda, T Marx, S Mayer, S Tippmann, ... The American Journal of Human Genetics 69 (4), 722-737, 2001 | 355 | 2001 |
| Long term trends in prevalence of neural tube defects in Europe: population based study B Khoshnood, M Loane, H De Walle, L Arriola, MC Addor, I Barisic, ... Bmj 351, 2015 | 287 | 2015 |
| Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study DJH Moss, AF Pardiñas, D Langbehn, K Lo, BR Leavitt, R Roos, A Durr, ... The Lancet Neurology 16 (9), 701-711, 2017 | 286 | 2017 |
| A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin K Dahan, O Devuyst, M Smaers, D Vertommen, G Loute, JM Poux, B Viron, ... Journal of the American Society of Nephrology 14 (11), 2883-2893, 2003 | 249 | 2003 |
| Intracranial aneurysms in autosomal dominant polycystic kidney disease D Chauveau, Y Pirson, C Verellen-Dumoulin, A Macnicol, A Gonzalo, ... Kidney international 45 (4), 1140-1146, 1994 | 212 | 1994 |
| Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy TV Nelis E,Erdem S,Van Den Bergh PY,Belpaire-Dethiou MC,Ceuterick C,Van ... Neurology 59 (12), 1865-1872, 2002 | 209 | 2002 |
| Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome BP Kelley, F Malfait, L Bonafe, D Baldridge, E Homan, S Symoens, ... Journal of Bone and Mineral Research 26 (3), 666-672, 2011 | 198 | 2011 |
| Estimating global burden of disease due to congenital anomaly: an analysis of European data B Boyle, MC Addor, L Arriola, I Barisic, F Bianchi, M Csáky-Szunyogh, ... Archives of Disease in Childhood-Fetal and Neonatal Edition 103 (1), F22-F28, 2018 | 195 | 2018 |
| Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome CH Verellen-Dumoulin, M Freund, R De Meyer, C Laterre, J Frederic, ... Human genetics 67, 115-119, 1984 | 177 | 1984 |
| Paper 6: EUROCAT member registries: organization and activities R Greenlees, A Neville, MC Addor, E Amar, L Arriola, M Bakker, I Barisic, ... Birth Defects Research Part A: Clinical and Molecular Teratology 91 (S1 …, 2011 | 160 | 2011 |
| Trends in congenital anomalies in Europe from 1980 to 2012 JK Morris, AL Springett, R Greenlees, M Loane, MC Addor, L Arriola, ... PloS one 13 (4), e0194986, 2018 | 156 | 2018 |
| Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium … RLL de Lima, SA Hoper, M Ghassibe, ME Cooper, NK Rorick, S Kondo, ... Genetics in medicine 11 (4), 241-247, 2009 | 155 | 2009 |
| Evidence for a relationship between Ehlers–Danlos type VII C in humans and bovine dermatosparaxis BV Nusgens, C Verellen-Dumoulin, T Hermanns-Lê, A De Paepe, ... Nature genetics 1 (3), 214-217, 1992 | 150 | 1992 |
| A deletion hot spot in the Duchenne muscular dystrophy gene MC Wapenaar, T Kievits, KA Hart, S Abbs, LAJ Blonden, JT Den Dunnen, ... Genomics 2 (2), 101-108, 1988 | 130 | 1988 |
Isabelle Maystadtcentre de génétique humaineVerified email at ipg.be
