| De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological … L Liang, X Li, S Moutton, SA Schrier Vergano, B Cogné, A Saint-Martin, ... Human Molecular Genetics 28 (17), 2937-2951, 2019 | 78 | 2019 |
| Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients L Bryant, D Li, SG Cox, D Marchione, EF Joiner, K Wilson, K Janssen, ... Science advances 6 (49), eabc9207, 2020 | 52 | 2020 |
| Facial recognition software in clinical dysmorphology ACE Hurst Current opinion in pediatrics 30 (6), 701-706, 2018 | 37 | 2018 |
| Disorders of GNAS Inactivation CR Haldeman-Englert, ACE Hurst, MA Levine University of Washington, Seattle, Seattle (WA), 1993 | 37 | 1993 |
| Genetic testing to inform epilepsy treatment management from an international study of clinical practice D McKnight, A Morales, KE Hatchell, SL Bristow, JL Bonkowsky, MS Perry, ... JAMA neurology 79 (12), 1267-1276, 2022 | 35 | 2022 |
| Constrained chromatin accessibility in PU. 1-mutated agammaglobulinemia patients C Le Coz, DN Nguyen, C Su, BE Nolan, AV Albrecht, S Xhani, D Sun, ... Journal of Experimental Medicine 218 (7), e20201750, 2021 | 35 | 2021 |
| Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy N Assia Batzir, P Kishor Bhagwat, A Larson, Z Coban Akdemir, M Bagłaj, ... Human Mutation 41 (3), 641-654, 2020 | 32 | 2020 |
| Autism in two females with duplications involving Xp11. 22–p11. 23 AC Edens, MJ Lyons, RM Duron, BR Dupont, KR Holden Developmental Medicine & Child Neurology 53 (5), 463-466, 2011 | 29 | 2011 |
| DLG4-related synaptopathy: a new rare brain disorder A Rodríguez-Palmero, MM Boerrigter, D Gómez-Andrés, KA Aldinger, ... Genetics in Medicine 23 (5), 888-899, 2021 | 27 | 2021 |
| Genome sequencing as a first-line diagnostic test for hospitalized infants KM Bowling, ML Thompson, CR Finnila, SM Hiatt, DR Latner, MD Amaral, ... Genetics in Medicine 24 (4), 851-861, 2022 | 26 | 2022 |
| Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy A Pinard, MDJ Fiander, AC Cecchi, AL Rideout, M Azouz, SM Fraser, ... Neurology 96 (13), e1783-e1791, 2021 | 26 | 2021 |
| Recurrent microdeletions at chromosome 2p11. 2 are associated with thymic hypoplasia and features resembling DiGeorge syndrome JD Bernstock, AH Totten, AG Elkahloun, KR Johnson, AC Hurst, ... Journal of Allergy and Clinical Immunology 145 (1), 358-367. e2, 2020 | 26 | 2020 |
| Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy N Voisin, RE Schnur, S Douzgou, SM Hiatt, CF Rustad, NJ Brown, DL Earl, ... The American Journal of Human Genetics 108 (5), 857-873, 2021 | 22 | 2021 |
| A state-based approach to genomics for rare disease and population screening KM East, WV Kelley, A Cannon, ME Cochran, IP Moss, T May, ... Genetics in Medicine 23 (4), 777-781, 2021 | 22 | 2021 |
| De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay SM Hiatt, MB Neu, RC Ramaker, AA Hardigan, JW Prokop, M Hancarova, ... PLoS genetics 14 (11), e1007671, 2018 | 20 | 2018 |
| RPL13 variants cause spondyloepimetaphyseal dysplasia with severe short stature C Le Caignec, B Ory, F Lamoureux, MF O’Donohue, E Orgebin, ... The American Journal of Human Genetics 105 (5), 1040-1047, 2019 | 19 | 2019 |
| Unexpected Survivors: Children With Life-Limiting Conditions of Uncertain Prognosis S Nageswaran, A Hurst, A Radulovic American Journal of Hospice and Palliative Medicine® 35 (4), 690-696, 2018 | 19 | 2018 |
| Extreme hypertriglyceridemia, pseudohyponatremia, and pseudoacidosis in a neonate with lipoprotein lipase deficiency due to segmental uniparental disomy AP Ashraf, ACE Hurst, A Garg Journal of clinical lipidology 11 (3), 757-762, 2017 | 17 | 2017 |
| Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype B Isidor, F Ebstein, A Hurst, M Vincent, I Bader, NL Rudy, B Cogne, J Mayr, ... Genetics in Medicine 24 (1), 179-191, 2022 | 14 | 2022 |
| Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology S Banka, A Bennington, MJ Baker, E Rijckmans, GD Clemente, NM Ansor, ... Brain 145 (12), 4232-4245, 2022 | 13 | 2022 |
