Katrina Haude

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Lot Snijders Blok, Erik Madsen, Jane Juusola et al. · The American Journal of Human Genetics · 2015 · 339 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

De Novo Mutations in CHD4 , an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

Karin Weiss, Paulien A. Terhal, Lior Cohen et al. · The American Journal of Human Genetics · 2016 · 154 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

Nicole J. Lake, Bryn D. Webb, David A. Stroud et al. · The American Journal of Human Genetics · 2017 · 126 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism

Linshan Shang, Lindsay B. Henderson, Megan T. Cho et al. · Neurogenetics · 2015 · 91 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes

Brittany N. Whitley, Christina Lam, Hong Cui et al. · Human Molecular Genetics · 2018 · 55 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17