Emily Bonkowski

Targeted long-read sequencing identifies missing disease-causing variation

Danny E. Miller, Arvis Sulovari, Tianyun Wang et al. · The American Journal of Human Genetics · 2021 · 239 citations · Full text

Life Sciences, Bioinformatics, Genetics +14

Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L

Dong-Hui Chen, Jennifer E. Below, Akiko Shimamura et al. · The American Journal of Human Genetics · 2016 · 179 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS)

Olena Korvatska, Nicholas S. Strand, Jason D. Berndt et al. · Human Molecular Genetics · 2013 · 141 citations

Life Sciences, Genetics, Molecular Genetics +17

Gain‐of‐function <i>ADCY5</i> mutations in familial dyskinesia with facial myokymia

Yingzhang Chen, Jennifer Friedman, Donghui Chen et al. · Annals of Neurology · 2014 · 123 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

<i>ADCY5</i> -related dyskinesia

Donghui Chen, Aurélie Méneret, Jennifer Friedman et al. · Neurology · 2015 · 119 citations · Full text

Life Sciences, Genetics, Neurology +13