Alyssa Ritter

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

Niki T. Loges, Dinu Antony, Aleš Maver et al. · The American Journal of Human Genetics · 2018 · 144 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

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 · 72 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

Dmitrijs Rots, Eric Chater‐Diehl, Alexander J.M. Dingemans et al. · The American Journal of Human Genetics · 2021 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies

Kevin C. Nixon, Justine Rousseau, Max H. Stone et al. · The American Journal of Human Genetics · 2019 · 49 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Disruption of cardiac thin filament assembly arising from a mutation in <i>LMOD2</i> : A novel mechanism of neonatal dilated cardiomyopathy

Rebecca C. Ahrens‐Nicklas, Christopher T. Pappas, Gerrie P. Farman et al. · Science Advances · 2019 · 41 citations · Full text

Medicine, Genetics, Molecular Genetics +13