Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype J Toubiana, S Okada, J Hiller, M Oleastro, M Lagos Gomez, ... Blood, The Journal of the American Society of Hematology 127 (25), 3154-3164, 2016 | 526 | 2016 |
Association of MTOR mutations with developmental brain disorders, including megalencephaly, focal cortical dysplasia, and pigmentary mosaicism GM Mirzaa, CD Campbell, N Solovieff, CP Goold, LA Jansen, S Menon, ... JAMA neurology 73 (7), 836-845, 2016 | 277 | 2016 |
Nosology of genetic skeletal disorders: 2023 revision S Unger, CR Ferreira, GR Mortier, H Ali, DR Bertola, A Calder, DH Cohn, ... American Journal of Medical Genetics Part A 191 (5), 1164-1209, 2023 | 212 | 2023 |
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism M Ansari, G Poke, Q Ferry, K Williamson, R Aldridge, AM Meynert, ... Journal of medical genetics 51 (10), 659-668, 2014 | 187 | 2014 |
Down syndrome:: Clinical profile from India MP Kava, MS Tullu, MN Muranjan, KM Girisha Archives of medical research 35 (1), 31-35, 2004 | 179 | 2004 |
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 | 174 | 2018 |
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution G Mirzaa, AE Timms, V Conti, EA Boyle, KM Girisha, B Martin, M Kircher, ... JCI insight 1 (9), 2016 | 170 | 2016 |
The promise of discovering population-specific disease-associated genes in South Asia N Nakatsuka, P Moorjani, N Rai, B Sarkar, A Tandon, N Patterson, ... Nature genetics 49 (9), 1403-1407, 2017 | 165 | 2017 |
Cortical-bone fragility—insights from sFRP4 deficiency in Pyle’s disease PO Simsek Kiper, H Saito, F Gori, S Unger, E Hesse, K Yamana, ... New England Journal of Medicine 374 (26), 2553-2562, 2016 | 142 | 2016 |
A dyadic approach to the delineation of diagnostic entities in clinical genomics LG Biesecker, MP Adam, FS Alkuraya, AR Amemiya, MJ Bamshad, ... The American Journal of Human Genetics 108 (1), 8-15, 2021 | 131 | 2021 |
Phenotypes and genotypes in individuals with SMC1A variants S Huisman, PA Mulder, E Redeker, I Bader, AM Bisgaard, A Brooks, ... American journal of medical genetics Part A 173 (8), 2108-2125, 2017 | 117 | 2017 |
Biallelic loss of proprioception-related PIEZO2 causes muscular atrophy with perinatal respiratory distress, arthrogryposis, and scoliosis A Delle Vedove, M Storbeck, R Heller, I Hölker, M Hebbar, A Shukla, ... The American Journal of Human Genetics 99 (5), 1206-1216, 2016 | 115 | 2016 |
Genomic and phenotypic delineation of congenital microcephaly R Shaheen, S Maddirevula, N Ewida, S Alsahli, GMH Abdel-Salam, ... Genetics in Medicine 21 (3), 545-552, 2019 | 108 | 2019 |
Down syndrome in diverse populations P Kruszka, AR Porras, AK Sobering, FA Ikolo, S La Qua, V Shotelersuk, ... American Journal of Medical Genetics Part A 173 (1), 42-53, 2017 | 108 | 2017 |
Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas‐type polysyndactyly and Laurin‐Sandrow syndrome S Lohan, M Spielmann, SC Doelken, R Flöttmann, F Muhammad, ... Clinical Genetics 86 (4), 318-325, 2014 | 95 | 2014 |
Noonan syndrome in diverse populations P Kruszka, AR Porras, YA Addissie, A Moresco, S Medrano, GTK Mok, ... American Journal of Medical Genetics Part A 173 (9), 2323-2334, 2017 | 93 | 2017 |
The genomics of arthrogryposis, a complex trait: candidate genes and further evidence for oligogenic inheritance D Pehlivan, Y Bayram, N Gunes, ZC Akdemir, A Shukla, T Bierhals, ... The American Journal of Human Genetics 105 (1), 132-150, 2019 | 91 | 2019 |
Williams–Beuren syndrome in diverse populations P Kruszka, AR Porras, DH De Souza, A Moresco, V Huckstadt, AD Gill, ... American Journal of Medical Genetics Part A 176 (5), 1128-1136, 2018 | 86 | 2018 |
Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia, and facial dysmorphism FL Harms, KM Girisha, AA Hardigan, F Kortüm, A Shukla, M Alawi, A Dalal, ... The American Journal of Human Genetics 100 (1), 117-127, 2017 | 81 | 2017 |
Genotype–phenotype spectrum of PYCR1-related autosomal recessive cutis laxa A Dimopoulou, B Fischer, T Gardeitchik, P Schröter, H Kayserili, ... Molecular Genetics and Metabolism 110 (3), 352-361, 2013 | 81 | 2013 |