Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes.
Carlson RJ et al.
Jama Otolaryngology-- Head & Neck Surgery, 2023
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.
Quaio CRAC et al.
Frontiers in Genetics, 2022
36147510 (PubMed )
Supplement: DataSheet1.xlsx › Supplementary_Table_4_
Prenatal diagnosis of Chudley-McCullough syndrome.
Chapman T et al.
American Journal of Medical Genetics. Part A, 2016
A novel nonsense GPSM2 mutation in a Yemeni family underlying Chudley-McCullough syndrome.
Hamzeh AR et al.
European Journal of Medical Genetics, 2016
GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America.
Almomani R et al.
American Journal of Medical Genetics. Part A, 2013
Select a paper to view details