Michelle Primiano

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

Frederike L. Harms, Katta M. Girisha, Andrew A. Hardigan et al. · The American Journal of Human Genetics · 2016 · 88 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact

Julia Wynn, Ruth Ottman, J. Duong et al. · Clinical Genetics · 2017 · 61 citations

Life Sciences, Genetics, Psychology +13

Impact of patient education videos on genetic counseling outcomes after exome sequencing

Rebecca Hernan, Megan T. Cho, Ashley Wilson et al. · Patient Education and Counseling · 2019 · 28 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

<i>ANK2</i> loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks

Maria W A Teunissen, Elly Lewerissa, Eline van Hugte et al. · Human Molecular Genetics · 2023 · 23 citations · Full text

Life Sciences, Neurobiology, Neuroscience +17

Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders

Halie May, Jae‐Hoon Jeong, Anya Revah‐Politi et al. · Genetics in Medicine · 2021 · 16 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14