Adam Hansen

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

Leber's hereditary optic neuropathy associated with a disorder indistinguishable from multiple sclerosis in a male harbouring the mitochondrial DNA 11778 mutation

N. K. Olsen, Adam Hansen, Søren Nørby et al. · Acta Neurologica Scandinavica · 1995 · 75 citations

Medicine, Neurology, Neuroscience +17

A Genocentric Approach to Discovery of Mendelian Disorders

Adam Hansen, Mullai Murugan, He Li et al. · The American Journal of Human Genetics · 2019 · 35 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Phenotypic and protein localization heterogeneity associated with <i>AHDC1</i> pathogenic protein‐truncating alleles in Xia–Gibbs syndrome

Michael M. Khayat, He Li, Varuna Chander et al. · Human Mutation · 2021 · 23 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation

Adam Hansen, Payal Arora, Michael M. Khayat et al. · Human Genetics and Genomics Advances · 2020 · 22 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14