Emma Bedoukian

Automated Clinical Exome Reanalysis Reveals Novel Diagnoses

Samuel W. Baker, Jill R. Murrell, Addie I. Nesbitt et al. · Journal of Molecular Diagnostics · 2018 · 84 citations

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Sarah E. Sheppard, Ian M. Campbell, Margaret Harr et al. · American Journal of Medical Genetics Part A · 2021 · 66 citations · Full text

Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations

Kinga M. Bujakowska, Rosario Fernández‐Godino, Emily Place et al. · Genetics in Medicine · 2016 · 62 citations · Full text

Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?

Whitney Wooderchak‐Donahue, Gülsen Akay, Kevin J. Whitehead et al. · Genetics in Medicine · 2019 · 57 citations · Full text

Much Overlap, Hereditary Hemorrhagic Telangiectasia, Genetic Disorder +9

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Benjamin Cogné, Sophie Ehresmann, Éliane Beauregard‐Lacroix et al. · The American Journal of Human Genetics · 2019 · 51 citations · Full text

Neurodevelopmental Disorders, Chromatin, Syndromic Autism +11