| The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders Y Aoki, T Niihori, Y Narumi, S Kure, Y Matsubara Human mutation 29 (8), 992-1006, 2008 | 452 | 2008 |
| Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between … E Gambineri, L Perroni, L Passerini, L Bianchi, C Doglioni, F Meschi, ... Journal of Allergy and Clinical Immunology 122 (6), 1105-1112. e1, 2008 | 261 | 2008 |
| DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III N Dagoneau, M Goulet, D Geneviève, Y Sznajer, J Martinovic, S Smithson, ... The American Journal of Human Genetics 84 (5), 706-711, 2009 | 257 | 2009 |
| The mutation spectrum in RECQL4 diseases HA Siitonen, J Sotkasiira, M Biervliet, A Benmansour, Y Capri, ... European journal of human genetics 17 (2), 151-158, 2009 | 225 | 2009 |
| Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency S Lovric, S Goncalves, HY Gee, B Oskouian, H Srinivas, WI Choi, S Shril, ... The Journal of clinical investigation 127 (3), 912-928, 2017 | 193 | 2017 |
| Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2 JC De Greef, J Wang, J Balog, JT Den Dunnen, RR Frants, ... The American Journal of Human Genetics 88 (6), 796-804, 2011 | 193 | 2011 |
| Phenotype and genotype in 101 males with X-linked creatine transporter deficiency JM van de Kamp, OT Betsalel, S Mercimek-Mahmutoglu, L Abulhoul, ... Journal of medical genetics 50 (7), 463-472, 2013 | 151 | 2013 |
| Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion J Calado, Y Sznajer, D Metzger, A Rita, MC Hogan, A Kattamis, M Scharf, ... Nephrology Dialysis Transplantation 23 (12), 3874-3879, 2008 | 147 | 2008 |
| ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic … M Bauwens, A Garanto, R Sangermano, S Naessens, N Weisschuh, ... Genetics in Medicine 21 (8), 1761-1771, 2019 | 142 | 2019 |
| Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases A Verloes, N Di Donato, J Masliah-Planchon, M Jongmans, ... European Journal of Human Genetics 23 (3), 292-301, 2015 | 141 | 2015 |
| The Spectrum of Cardiac Anomalies in Noonan Syndrome as a Result of Mutations in the PTPN11 Gene Y Sznajer, B Keren, C Baumann, S Pereira, C Alberti, J Elion, H Cavé, ... Pediatrics 119 (6), e1325-e1331, 2007 | 140 | 2007 |
| LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma J Désir, Y Sznajer, F Depasse, F Roulez, M Schrooyen, F Meire, ... European journal of human genetics 18 (7), 761-767, 2010 | 121 | 2010 |
| A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies M Coutelier, G Coarelli, ML Monin, J Konop, CS Davoine, C Tesson, ... Brain 140 (6), 1579-1594, 2017 | 118 | 2017 |
| Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain P Sen, Y Yang, C Navarro, I Silva, P Szafranski, KE Kolodziejska, ... Human mutation 34 (6), 801-811, 2013 | 108 | 2013 |
| Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges O Vanakker, C Vilain, K Janssens, N Van der Aa, G Smits, C Bandelier, ... European journal of medical genetics 57 (4), 151-156, 2014 | 107 | 2014 |
| PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience B Keren, A Hadchouel, S Saba, Y Sznajer, D Bonneau, B Leheup, ... Journal of medical genetics 41 (11), e117-e117, 2004 | 106 | 2004 |
| PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype–phenotype correlation in Korean patients with Noonan syndrome JM Ko, JM Kim, GH Kim, HW Yoo Journal of human genetics 53 (11), 999-1006, 2008 | 105 | 2008 |
| Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome) Y Sznajer, C Baumann, A David, H Journel, D Lacombe, Y Perel, P Blouin, ... European journal of pediatrics 162, 863-867, 2003 | 104 | 2003 |
| Novel TMEM67 mutations and genotype‐phenotype correlates in meckelin‐related ciliopathies M Iannicelli, F Brancati, S Mougou‐Zerelli, A Mazzotta, S Thomas, ... Human mutation 31 (5), E1319-E1331, 2010 | 99 | 2010 |
| Familial CHARGE syndrome because of CHD7 mutation: clinical intra‐ and interfamilial variability A Delahaye, Y Sznajer, S Lyonnet, M Elmaleh‐Bergès, I Delpierre, ... Clinical genetics 72 (2), 112-121, 2007 | 99 | 2007 |
