Wei Shen

Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene

Diane B. Zastrow, Heather Baudet, Wei Shen et al. · Human Mutation · 2018 · 70 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Coexisting and cooperating mutations in NPM1 -mutated acute myeloid leukemia

Jay Patel, Jonathan A. Schumacher, Kimberly Frizzell et al. · Leukemia Research · 2017 · 60 citations

Medicine, Genetics, Oncology +12

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

The spectrum of <i>DNMT3A</i> variants in Tatton–Brown–Rahman syndrome overlaps with that in hematologic malignancies

Wei Shen, Jennifer Heeley, Colleen M. Carlston et al. · American Journal of Medical Genetics Part A · 2017 · 49 citations

Life Sciences, Genetics, Molecular Genetics +16

De novo loss-of-function variants of ASH1L are associated with an emergent neurodevelopmental disorder

Wei Shen, Patti Krautscheid, Audrey Rutz et al. · European Journal of Medical Genetics · 2018 · 44 citations

Life Sciences, Genetics, Molecular Genetics +14