Abby Mae Moskowitz

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Active since

2016

Affiliations

Translational Genomics Research Institute(Current)

Abby Mae Moskowitz is an author at Translational Genomics Research Institute specializing in genetic disorders, pediatric neurogenetic disorders, and de novo mutations in developmental disorders.

Publications per year

2016–2017

Publications

A de novo missense mutation in <i>ZMYND11</i> is associated with global developmental delay, seizures, and hypotonia

Abby Mae Moskowitz, Newell Belnap, Ashley L. Siniard et al. · Molecular Case Studies · 2016 · 30 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A de novo splice site mutation in <i>CASK</i> causes FG syndrome‐4 and congenital nystagmus

Peter O. Dunn, George P. Prigatano, Szabolcs Szelinger et al. · American Journal of Medical Genetics Part A · 2017 · 16 citations

Life Sciences, Genetics, Molecular Genetics +16

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