Associated Papers
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
41105405 (PubMed )
Supplement: jamanetwopen-e2538198-s001.xlsx › eTable_3
Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variants.
Serey-Gaut M et al.
Human Genetics, 2025
A validated heart-specific model for splice-disrupting variants in childhood heart disease.
Lesurf R et al.
Genome Medicine, 2024
39402625 (PubMed )
Supplement: 13073_2024_1383_MOESM3_ESM.xlsx › Table_S3
Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis.
Boucher S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle
Select a paper to view details