Ana S.A. Cohen
Children's Mercy Hospital(US)University of Missouri–Kansas City(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Genetic Syndromes and Imprinting, Epigenetics and DNA Methylation
Most-Cited Works
- → NSD1 mutations generate a genome-wide DNA methylation signature(2015)208 cited
- → The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change(2023)121 cited
- → CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language(2018)118 cited
- → Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism(2013)105 cited
- → A novel mutation in EED associated with overgrowth(2015)99 cited
- → Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes(2022)91 cited