| Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes MCV Malicdan, T Vilboux, J Stephen, D Maglic, L Mian, D Konzman, ... Journal of medical genetics 52 (12), 830-839, 2015 | 52 | 2015 |
| Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy O Barel, MCV Malicdan, B Ben-Zeev, J Kandel, H Pri-Chen, J Stephen, ... Brain 140 (3), 568-581, 2017 | 48 | 2017 |
| Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations J Stephen, T Vilboux, Y Haberman, H Pri-Chen, B Pode-Shakked, ... European Journal of Human Genetics 24 (9), 1268-1273, 2016 | 43 | 2016 |
| Mutations in patients with osteogenesis imperfecta from consanguineous Indian families J Stephen, KM Girisha, A Dalal, A Shukla, H Shah, P Srivastava, U Kornak, ... European journal of medical genetics 58 (1), 21-27, 2015 | 43 | 2015 |
| Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency J Stephen, T Vilboux, L Mian, C Kuptanon, CM Sinclair, D Yildirimli, ... Human genetics 136 (4), 399-408, 2017 | 41 | 2017 |
| CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency T Vilboux, MCV Malicdan, JC Roney, AR Cullinane, J Stephen, ... American journal of medical genetics Part A 173 (3), 661-666, 2017 | 40 | 2017 |
| Mitochondrial epileptic encephalopathy, 3‐methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations MA Shahrour, O Staretz‐Chacham, D Dayan, J Stephen, A Weech, ... Clinical genetics 91 (5), 690-696, 2017 | 36 | 2017 |
| Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta J Stephen, A Shukla, A Dalal, KM Girisha, H Shah, N Gupta, M Kabra, ... American journal of medical genetics Part A 164 (6), 1482-1489, 2014 | 35 | 2014 |
| Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects T Vilboux, MCV Malicdan, YM Chang, J Guo, PM Zerfas, J Stephen, ... Journal of medical genetics 53 (5), 318-329, 2016 | 26 | 2016 |
| Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy M Kambouris, J Thevenon, A Soldatos, A Cox, J Stephen, T Ben‐Omran, ... Annals of clinical and translational neurology 4 (1), 26-35, 2017 | 21 | 2017 |
| Bi-allelic tmem94 truncating variants are associated with neurodevelopmental delay, congenital heart defects, and distinct facial dysmorphism J Stephen, S Maddirevula, S Nampoothiri, JD Burke, M Herzog, A Shukla, ... The American Journal of Human Genetics 103 (6), 948-967, 2018 | 20 | 2018 |
| TMEM231 Gene Conversion Associated with Joubert and Meckel–Gruber Syndromes in the Same Family D Maglic, J Stephen, MCV Malicdan, J Guo, R Fischer, D Konzman, ... Human mutation 37 (11), 1144-1148, 2016 | 20 | 2016 |
| Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising B Power, CR Ferreira, D Chen, WM Zein, KJ O’Brien, WJ Introne, ... Orphanet journal of rare diseases 14 (1), 1-11, 2019 | 19 | 2019 |
| Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy J Stephen, S Nampoothiri, A Banerjee, NJ Tolman, JM Penninger, ... Human genetics 137 (4), 293-303, 2018 | 18 | 2018 |
| Identification of an Alu element‐mediated deletion in the promoter region of GNE in siblings with GNE myopathy J Garland, J Stephen, B Class, A Gruber, C Ciccone, A Poliak, CP Hayes, ... Molecular genetics & genomic medicine 5 (4), 410-417, 2017 | 18 | 2017 |
| Bi‐allelic missense variant, p. Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia PH Somashekar, P Kaur, J Stephen, VS Guleria, R Kadavigere, ... Clinical genetics, 2021 | 15 | 2021 |
| Worsening of callus hyperplasia after bisphosphonate treatment in type V osteogenesis imperfecta P Ranganath, J Stephen, R Iyengar, SR Phadke Indian pediatrics 53 (3), 250-252, 2016 | 13 | 2016 |
| Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5 J Stephen, T Yokoyama, NJ Tolman, KJ O’Brien, ER Nicoli, BP Brooks, ... Plos one 12 (3), e0173682, 2017 | 12 | 2017 |
| Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development KM Ates, T Wang, T Moreland, R Veeranan-Karmegam, M Ma, C Jeter, ... Disease models & mechanisms 13 (5), 2020 | 11 | 2020 |
| Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report J Stephen, S Nampoothiri, KP Vinayan, D Yesodharan, P Remesh, ... BMC medical genetics 19 (1), 1-6, 2018 | 10 | 2018 |
