Work

Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping

Year: 2023

Type: article

Study design: Observational Study

Source: Human Genetics

DOI: 10.1007/s00439-023-02522-8

Authors: Soumia Brakta, Zoe A. Hawkins, Nikhil Sahajpal, Natalie Seman, Dina Kira, Lynn P. Chorich, Hyung-Goo Kim, Hongyan Xu, John A. Phillips, Ravindra Kolhe, Lawrence C. Layman

Institutions: Augusta University, Greenwood Genetic Center, Hamad bin Khalifa University, Vanderbilt University Medical Center

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: National Institutes of Health, Medical College of Georgia, Augusta University, National Institute of Child Health and Human Development

Awards: Genetics of Mullerian Development, G8234652494

OpenAlex ID: W4321163569

FWCI: 2.154

Cites: 43

Cited by: 13

Related to: 10