Kelly Bontempo

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 · 59 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Evaluation and classification of severity for 176 genes on an expanded carrier screening panel

Aishwarya Arjunan, Holly Bellerose, Raúl Torres et al. · Prenatal Diagnosis · 2020 · 39 citations · Full text

Life Sciences, Genetics, Obstetrics +11

Pathogenic variants in <i>TNRC6B</i> cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD

Jorge L. Granadillo, Alexander P.A. Stegmann, Hui Guo et al. · Journal of Medical Genetics · 2020 · 28 citations

Medicine, Genetics, Molecular Genetics +17

Further delineation of Aymé‐Gripp syndrome and use of automated facial analysis tool

Shivarajan Amudhavalli, Randi Hanson, Brad Angle et al. · American Journal of Medical Genetics Part A · 2018 · 22 citations

Medicine, Molecular Medicine, Genodermatoses +12