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
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
A Brazilian case arising from a homozygous canonical splice site SLC35A3 variant leading to an in-frame deletion.
Miyake N et al.
Clinical Genetics, 2021
A human case of SLC35A3-related skeletal dysplasia.
Edmondson AC et al.
American Journal of Medical Genetics. Part A, 2017
Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis.
Edvardson S et al.
Journal of Medical Genetics, 2013
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