Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome) C Zweier, MM Peippo, J Hoyer, S Sousa, A Bottani, J Clayton-Smith, ... The American Journal of Human Genetics 80 (5), 994-1001, 2007 | 375 | 2007 |
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome JKJ Van Houdt, BA Nowakowska, SB Sousa, BDC Van Schaik, ... Nature genetics 44 (4), 445-449, 2012 | 284 | 2012 |
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6 E Szenker-Ravi, U Altunoglu, M Leushacke, C Bosso-Lefèvre, M Khatoo, ... Nature 557 (7706), 564-569, 2018 | 176 | 2018 |
Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome ME Bowen, ED Boyden, IA Holm, B Campos-Xavier, L Bonafé, ... PLoS genetics 7 (4), e1002050, 2011 | 131 | 2011 |
Hi-C identifies complex genomic rearrangements and TAD-shuffling in developmental diseases US Melo, R Schöpflin, R Acuna-Hidalgo, MA Mensah, B Fischer-Zirnsak, ... The American Journal of Human Genetics 106 (6), 872-884, 2020 | 123 | 2020 |
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome AC Thomas, H Williams, N Setó-Salvia, C Bacchelli, D Jenkins, ... The American Journal of Human Genetics 95 (5), 611-621, 2014 | 115 | 2014 |
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome SB Sousa, D Jenkins, E Chanudet, G Tasseva, M Ishida, G Anderson, ... Nature genetics 46 (1), 70-76, 2014 | 107 | 2014 |
Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice J Rainger, E van Beusekom, JK Ramsay, L McKie, L Al-Gazali, R Pallotta, ... PLoS genetics 7 (7), e1002114, 2011 | 103 | 2011 |
Phenotype and genotype in Nicolaides–Baraitser syndrome SB Sousa, RC Hennekam, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2014 | 89 | 2014 |
Nicolaides–Baraitser syndrome: delineation of the phenotype SB Sousa, OA Abdul‐Rahman, A Bottani, V Cormier‐Daire, A Fryer, ... American Journal of Medical Genetics Part A 149 (8), 1628-1640, 2009 | 80 | 2009 |
Mutations in EXTL3 cause neuro-immuno-skeletal dysplasia syndrome MM Oud, P Tuijnenburg, M Hempel, N van Vlies, Z Ren, S Ferdinandusse, ... The American Journal of Human Genetics 100 (2), 281-296, 2017 | 72 | 2017 |
De novo mutations in SIK1 cause a spectrum of developmental epilepsies J Hansen, C Snow, E Tuttle, DH Ghoneim, CS Yang, A Spencer, ... The American Journal of Human Genetics 96 (4), 682-690, 2015 | 70 | 2015 |
SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20 D Bryant, Y Liu, S Datta, H Hariri, M Seda, G Anderson, E Peskett, ... Human molecular genetics 27 (11), 1927-1940, 2018 | 69 | 2018 |
Autosomal-recessive mutations in MESD cause osteogenesis imperfecta S Moosa, GL Yamamoto, L Garbes, K Keupp, A Beleza-Meireles, ... The American Journal of Human Genetics 105 (4), 836-843, 2019 | 63 | 2019 |
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct … G Cappuccio, C Sayou, PL Tanno, E Tisserant, AL Bruel, SE Kennani, ... Genetics in Medicine 22 (11), 1838-1850, 2020 | 49 | 2020 |
Tetra‐amelia and lung hypo/aplasia syndrome: New case report and review SB Sousa, R Pina, L Ramos, N Pereira, M Krahn, W Borozdin, J Kohlhase, ... American Journal of Medical Genetics Part A 146 (21), 2799-2803, 2008 | 47 | 2008 |
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene VG Peter, M Quinodoz, J Pinto-Basto, SB Sousa, SA Di Gioia, G Soares, ... Genetics in medicine 21 (12), 2734-2743, 2019 | 46 | 2019 |
Heterozygous aggrecan variants are associated with short stature and brachydactyly: description of 16 probands and a review of the literature L Sentchordi‐Montané, M Aza‐Carmona, S Benito‐Sanz, ... Clinical endocrinology 88 (6), 820-829, 2018 | 44 | 2018 |
The first European consensus on principles of management for achondroplasia V Cormier-Daire, M AlSayed, T Ben-Omran, SB de Sousa, S Boero, ... Orphanet journal of rare diseases 16, 1-7, 2021 | 41 | 2021 |
A recessive ataxia diagnosis algorithm for the next generation sequencing era M Renaud, C Tranchant, JVT Martin, F Mochel, M Synofzik, ... Annals of neurology 82 (6), 892-899, 2017 | 36 | 2017 |