| Identification of the gene altered in Berardinelli–Seip congenital lipodystrophy on chromosome 11q13 J Magré, M Delépine, E Khallouf, T Gedde-Dahl, L Van Maldergem, ... Nature genetics 28 (4), 365-370, 2001 | 837 | 2001 |
| Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism A Rauch, CT Thiel, D Schindler, U Wick, YJ Crow, AB Ekici, AJ Van Essen, ... Science 319 (5864), 816-819, 2008 | 456 | 2008 |
| Consanguineous marriages, pearls and perils: Geneva international consanguinity workshop report H Hamamy, SE Antonarakis, LL Cavalli-Sforza, S Temtamy, G Romeo, ... Genetics in Medicine 13 (9), 841-847, 2011 | 407 | 2011 |
| Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia–absent radius syndrome E Klopocki, H Schulze, G Strauß, CE Ott, J Hall, F Trotier, S Fleischhauer, ... The American Journal of Human Genetics 80 (2), 232-240, 2007 | 355 | 2007 |
| The 50th anniversary of the discovery of trisomy 21: the past, present, and future of research and treatment of Down syndrome A Mégarbané, A Ravel, C Mircher, F Sturtz, Y Grattau, MO Rethoré, ... Genetics in medicine 11 (9), 611-616, 2009 | 344 | 2009 |
| BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus C Stoetzel, V Laurier, EE Davis, J Muller, S Rix, JL Badano, CC Leitch, ... Nature genetics 38 (5), 521-524, 2006 | 344 | 2006 |
| ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome N Dagoneau, C Benoist-Lasselin, C Huber, L Faivre, A Mégarbané, ... The American Journal of Human Genetics 75 (5), 801-806, 2004 | 326 | 2004 |
| Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy L Van Maldergem, J Magre, TE Khallouf, T Gedde-Dahl, M Delepine, ... Journal of medical genetics 39 (10), 722-733, 2002 | 315 | 2002 |
| Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation SL Masters, V Lagou, I Jéru, PJ Baker, L Van Eyck, DA Parry, D Lawless, ... Science translational medicine 8 (332), 332ra45-332ra45, 2016 | 302 | 2016 |
| Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia L Adaimy, E Chouery, H Mégarbané, S Mroueh, V Delague, E Nicolas, ... The American Journal of Human Genetics 81 (4), 821-828, 2007 | 298 | 2007 |
| Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production A Brehm, Y Liu, A Sheikh, B Marrero, E Omoyinmi, Q Zhou, ... The Journal of clinical investigation 125 (11), 4196-4211, 2015 | 290 | 2015 |
| Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein L McGregor, V Makela, SM Darling, S Vrontou, G Chalepakis, C Roberts, ... Nature genetics 34 (2), 203-208, 2003 | 263 | 2003 |
| A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot–Marie–Tooth disease A Guilbot, A Williams, N Ravisé, C Verny, A Brice, DL Sherman, ... Human molecular genetics 10 (4), 415-422, 2001 | 257 | 2001 |
| Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy G Bernard, E Chouery, ML Putorti, M Tétreault, A Takanohashi, G Carosso, ... The American Journal of Human Genetics 89 (3), 415-423, 2011 | 255 | 2011 |
| Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome IA Aligianis, CA Johnson, P Gissen, D Chen, D Hampshire, K Hoffmann, ... Nature genetics 37 (3), 221-224, 2005 | 248 | 2005 |
| Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene L Van Maldergem, HA Siitonen, N Jalkh, E Chouery, M De Roy, ... Journal of medical genetics 43 (2), 148-152, 2006 | 244 | 2006 |
| Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias C Le Goff, C Mahaut, LW Wang, S Allali, A Abhyankar, S Jensen, ... The American Journal of Human Genetics 89 (1), 7-14, 2011 | 240 | 2011 |
| Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis MA Willemsen, MM Verbeek, EJ Kamsteeg, JF de Rijk-van Andel, A Aeby, ... Brain 133 (6), 1810-1822, 2010 | 234 | 2010 |
| Gain-of-Function Mutations in TRPM4 Cause Autosomal Dominant Isolated Cardiac Conduction Disease H Liu, L El Zein, M Kruse, R Guinamard, A Beckmann, A Bozio, G Kurtbay, ... Circulation: Cardiovascular Genetics 3 (4), 374-385, 2010 | 230 | 2010 |
| Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3 C Lefèvre, B Bouadjar, V Ferrand, G Tadini, A Mégarbané, M Lathrop, ... Human Molecular Genetics 15 (5), 767-776, 2006 | 220 | 2006 |
