| The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome L Crisponi, M Deiana, A Loi, F Chiappe, M Uda, P Amati, L Bisceglia, ... Nature genetics 27 (2), 159-166, 2001 | 1117 | 2001 |
| Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome T Niihori, Y Aoki, Y Narumi, G Neri, H Cavé, A Verloes, N Okamoto, ... Nature genetics 38 (3), 294-296, 2006 | 679 | 2006 |
| Specific genetic disorders and autism: clinical contribution towards their identification D Cohen, N Pichard, S Tordjman, C Baumann, L Burglen, E Excoffier, ... Journal of autism and developmental disorders 35, 103-116, 2005 | 511 | 2005 |
| Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans SP Robertson, SRF Twigg, AJ Sutherland-Smith, V Biancalana, RJ Gorlin, ... Nature genetics 33 (4), 487-491, 2003 | 472 | 2003 |
| Updated diagnostic criteria for CHARGE syndrome: a proposal A Verloes American Journal of Medical Genetics Part A 133 (3), 306-308, 2005 | 453 | 2005 |
| Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy CL Navarro, A De Sandre-Giovannoli, R Bernard, I Boccaccio, A Boyer, ... Human molecular genetics 13 (20), 2493-2503, 2004 | 427 | 2004 |
| p63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand–split foot malformation suggest a genotype-phenotype correlation H Van Bokhoven, BCJ Hamel, M Bamshad, E Sangiorgi, F Gurrieri, ... The American Journal of Human Genetics 69 (3), 481-492, 2001 | 422 | 2001 |
| High rate of recurrent de novo mutations in developmental and epileptic encephalopathies FF Hamdan, CT Myers, P Cossette, P Lemay, D Spiegelman, AD Laporte, ... The American Journal of Human Genetics 101 (5), 664-685, 2017 | 421 | 2017 |
| Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations I Nishino, A Spinazzola, A Papadimitriou, S Hammans, I Steiner, CD Hahn, ... Annals of Neurology: Official Journal of the American Neurological …, 2000 | 395 | 2000 |
| CHARGE syndrome: an update D Sanlaville, A Verloes European Journal of Human Genetics 15 (4), 389-399, 2007 | 360 | 2007 |
| WDR62 is associated with the spindle pole and is mutated in human microcephaly AK Nicholas, M Khurshid, J Désir, OP Carvalho, JJ Cox, G Thornton, ... Nature genetics 42 (11), 1010-1014, 2010 | 358 | 2010 |
| 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 | 343 | 2006 |
| MECP2 is highly mutated in X-linked mental retardation P Couvert, T Bienvenu, C Aquaviva, K Poirier, C Moraine, C Gendrot, ... Human Molecular Genetics 10 (9), 941-946, 2001 | 337 | 2001 |
| Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype–phenotype correlation E De Baere, MJ Dixon, KW Small, EW Jabs, BP Leroy, K Devriendt, ... Human molecular genetics 10 (15), 1591-1600, 2001 | 325 | 2001 |
| Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly JD Buxbaum, G Cai, P Chaste, G Nygren, J Goldsmith, J Reichert, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 144 …, 2007 | 323 | 2007 |
| 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 | 323 | 2002 |
| The genetic basis of inherited anomalies of the teeth: Part 1: Clinical and molecular aspects of non-syndromic dental disorders I Bailleul-Forestier, M Molla, A Verloes, A Berdal European journal of medical genetics 51 (4), 273-291, 2008 | 322 | 2008 |
| Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis S Kan, N Elanko, D Johnson, L Cornejo-Roldan, J Cook, EW Reich, ... The American Journal of Human Genetics 70 (2), 472-486, 2002 | 311 | 2002 |
| De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome JB Rivière, BWM Van Bon, A Hoischen, SS Kholmanskikh, BJ O'Roak, ... Nature genetics 44 (4), 440-444, 2012 | 308 | 2012 |
| Aneurysms of the abdominal aorta: familial and genetic aspects in three hundred thirteen pedigrees A Verloes, N Sakalihasan, L Koulischer, R Limet Journal of vascular surgery 21 (4), 646-655, 1995 | 305 | 1995 |
