Ana S.A. Cohen

NSD1 mutations generate a genome-wide DNA methylation signature

Sanaa Choufani, Cheryl Cytrynbaum, Brian Hon‐Yin Chung et al. · Nature Communications · 2015 · 206 citations · Full text

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok, Justine Rousseau, Joanna Twist et al. · Nature Communications · 2018 · 116 citations · Full text

Brain Development, Genetics, Molecular Biology +25

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya et al. · Genetics in Medicine · 2023 · 112 citations · Full text

Genome-wide Association Study, Genetic Analysis, Next-generation Sequencing +6

Mutations in <i>POLR3A</i> and <i>POLR3B</i> are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

Hussein Daoud, Martine Tétreault, William T. Gibson et al. · Journal of Medical Genetics · 2013 · 103 citations

A novel mutation in EED associated with overgrowth

Ana S.A. Cohen, Beyhan Tüysüz, Yaoqing Shen et al. · Journal of Human Genetics · 2015 · 99 citations · Full text

Novel Mutation, Genetics, Genetic Disorder