Amy Crunk

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

Scott C. Bell, Justine Rousseau, Huashan Peng et al. · The American Journal of Human Genetics · 2019 · 90 citations · Full text

Life Sciences, Genetics, Neuroscience +14

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

Lot Snijders Blok, Susan M. Hiatt, Kevin M. Bowling et al. · Human Genetics · 2018 · 79 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A

Ian M. Campbell, Svetlana A. Yatsenko, Patricia Hixson et al. · Genetics in Medicine · 2012 · 62 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

A genome‐wide linkage analysis of dementia in the Amish

Daniel W. Hahs, Jacob L. McCauley, Amy Crunk et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2006 · 48 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14