Evangeline C. Kurtz‐Nelson

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Margot A. Cousin, Blake A. Creighton, Keith A. Breau et al. · Nature Genetics · 2021 · 108 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi et al. · The American Journal of Human Genetics · 2021 · 90 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders

Xiangbin Jia, S. Zhang, Senwei Tan et al. · Science Advances · 2022 · 55 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype

Michael S. Breen, Paras Garg, Lara Tang et al. · The American Journal of Human Genetics · 2020 · 54 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

The CHD8/CHD7/Kismet family links blood-brain barrier glia and serotonin to ASD-associated sleep defects

Mireia Coll-Tané, Naihua N. Gong, Samuel J. Belfer et al. · Science Advances · 2021 · 43 citations · Full text

Life Sciences, Genetics, Neuroscience +13