Work

Optical mapping in Black genomes: Distinct LCR22 structures and 22q11.2 deletion syndrome mechanisms

Year: 2025

Type: article

Study design: Observational Study

Source: Genetics in Medicine

DOI: 10.1016/j.gim.2025.101614

Authors: Steven Pastor, Oanh Tran, Ryan Lapointe, Arnold Z. Olali, Douglas C. Wallace, Bernice Morrow, Elaine H. Zackai, Donna M. McDonald-McGinn, Beverly S. Emanuel

Institutions: Children's Hospital of Philadelphia, Albert Einstein College of Medicine, University of Pennsylvania

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: bronze

Funders: National Institutes of Health, National Institute of General Medical Sciences, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: Molecular Dissection of the 22q11.2 Deletion Syndrome, SUPPORT FOR THE ROSE F KENNEDY IDDRC P50

OpenAlex ID: W4415390255

FWCI: 1.167

Cites: 15

Cited by: 2

Related to: 10