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| Automated clinical exome reanalysis reveals novel diagnoses SW Baker, JR Murrell, AI Nesbitt, KB Pechter, J Balciuniene, X Zhao, Z Yu, ... The Journal of Molecular Diagnostics 21 (1), 38-48, 2019 | 83 | 2019 |
| Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations KM Bujakowska, R Fernandez-Godino, E Place, M Consugar, ... Genetics in Medicine 19 (6), 643-651, 2017 | 61 | 2017 |
| Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)? WL Wooderchak-Donahue, G Akay, K Whitehead, E Briggs, ... Genetics in Medicine 21 (9), 2007-2014, 2019 | 54 | 2019 |
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| Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic D Mehta, SE Noon, E Schwartz, A Wilkens, EC Bedoukian, I Scarano, ... American Journal of Medical Genetics Part A 170 (10), 2523-2530, 2016 | 44 | 2016 |
| Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome SE Sheppard, IM Campbell, MH Harr, N Gold, D Li, HT Bjornsson, ... American Journal of Medical Genetics Part A 185 (6), 1649-1665, 2021 | 41 | 2021 |
| Genotype–phenotype specificity in Menke–Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP S Banka, R Sayer, C Breen, S Barton, J Pavaine, SE Sheppard, ... American Journal of Medical Genetics Part A 179 (6), 1058-1062, 2019 | 39 | 2019 |
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| Loss-of-function variants in PPP1R12A: from isolated sex reversal to holoprosencephaly spectrum and urogenital malformations JJ Hughes, E Alkhunaizi, P Kruszka, LC Pyle, DK Grange, SI Berger, ... The American Journal of Human Genetics 106 (1), 121-128, 2020 | 35 | 2020 |
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| Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants LX Zhang, G Lemire, C Gonzaga-Jauregui, S Molidperee, ... Genetics in Medicine 22 (8), 1338-1347, 2020 | 34 | 2020 |
| HACE1 deficiency leads to structural and functional neurodevelopmental defects V Nagy, R Hollstein, TP Pai, MK Herde, P Buphamalai, P Moeseneder, ... Neurology: Genetics 5 (3), e330, 2019 | 32 | 2019 |
| MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype T Smol, F Petit, A Piton, B Keren, D Sanlaville, A Afenjar, S Baker, ... Neurogenetics 19, 93-103, 2018 | 32 | 2018 |
| The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK S Cheon, K Kaur, N Nijem, IO Tuncay, P Kumar, M Dean, J Juusola, ... Proceedings of the National Academy of Sciences 116 (9), 3662-3667, 2019 | 31 | 2019 |
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| The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA CJ Men, KM Bujakowska, J Comander, E Place, EC Bedoukian, X Zhu, ... Molecular Vision 23, 695, 2017 | 31 | 2017 |
| Variable clinical manifestations of Xia‐Gibbs syndrome: Findings of consecutively identified cases at a single children's hospital AL Ritter, C McDougall, C Skraban, L Medne, EC Bedoukian, SB Asher, ... American Journal of Medical Genetics Part A 176 (9), 1890-1896, 2018 | 29 | 2018 |
| A human case of SLC35A3‐related skeletal dysplasia AC Edmondson, EC Bedoukian, MA Deardorff, DM McDonald‐McGinn, ... American Journal of Medical Genetics Part A 173 (10), 2758-2762, 2017 | 25 | 2017 |
