Theresa Mihalic Mosher

Phenotypic expansion in <i> <scp>DDX</scp> 3X </i> – a common cause of intellectual disability in females

Xia Wang, Jennifer E. Posey, Jill A. Rosenfeld et al. · Annals of Clinical and Translational Neurology · 2018 · 90 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Brett V. Johnson, Raman Kumar, Sabrina Oishi et al. · Biological Psychiatry · 2019 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Cerebral organoids containing an <i>AUTS2</i> missense variant model microcephaly

Summer Fair, Wesley N. Schwind, Dominic Julian et al. · Brain · 2022 · 55 citations · Full text

Life Sciences, Genetics, Neuroscience +17

A de novo nonsense mutation in <i>ASXL3</i> shared by siblings with Bainbridge–Ropers syndrome

Daniel C. Koboldt, Theresa Mihalic Mosher, Benjamin Kelly et al. · Molecular Case Studies · 2018 · 43 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Kristina Lanko, Francisco J. Guzmán‐Vega, Adam Jackson et al. · Genetics in Medicine · 2021 · 35 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17