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 · 211 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

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 · 121 citations · Full text

Medicine, Genetics, Molecular Genetics +17

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 · 107 citations

Life Sciences, Genetics, Molecular Genetics +16

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

Life Sciences, Genetics, Molecular Genetics +7

Genomic answers for children: Dynamic analyses of &gt;1000 pediatric rare disease genomes

Ana S.A. Cohen, Emily Farrow, Ahmed Abdelmoity et al. · Genetics in Medicine · 2022 · 98 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17