Work

An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy

Year: 2013

Type: article

Study design: Observational Study

Source: Genetics in Medicine

DOI: 10.1038/gim.2013.84

Authors: Minjie Luo, Liu Liu, Inga Peter, Jun Zhu, Stuart A. Scott, Geping Zhao, Chevonne Eversley, Ruth Kornreich, Robert J. Desnick, Lisa Edelmann

Institutions: New York University, Icahn School of Medicine at Mount Sinai, Baylor College of Medicine

Language: English

Topic: Neurogenetic and Muscular Disorders Research

Subfield: Genetics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: National Institutes of Health, National Center for Research Resources

Awards: G424471100, G9000141935

OpenAlex ID: W2028971099

FWCI: 0.74

Cites: 27

Cited by: 85

Related to: 10