Renee Bend

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

David B. Beck, Ana Petracovici, Chongsheng He et al. · The American Journal of Human Genetics · 2020 · 112 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

Laura Bryant, Dong Li, Samuel G. Cox et al. · Science Advances · 2020 · 99 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size

Diana Le Duc, Cecilia Giulivi, Susan M. Hiatt et al. · Brain · 2019 · 53 citations · Full text

Life Sciences, Genetics, Neuroscience +17

<i>CSNK2B</i>: A broad spectrum of neurodevelopmental disability and epilepsy severity

Michelle Ernst, Evan H. Baugh, Amanda Thomas‐Wilson et al. · Epilepsia · 2021 · 34 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities

Renee Bend, Lior Cohen, Melissa T. Carter et al. · European Journal of Human Genetics · 2019 · 32 citations · Full text

Medicine, Genetics, Molecular Genetics +17