Associated Papers
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
A novel missense ALMS1 variant causes aberrant splicing identified in a cohort of patients with Alström syndrome.
Shi J et al.
Frontiers in Genetics, 2022
Alström Syndrome: Mutation Spectrum of ALMS1.
Marshall JD et al.
Human Mutation, 2015
Mutations in Alström protein impair terminal differentiation of cardiomyocytes.
Shenje LT et al.
Nature Communications, 2014
Caloric restriction in Alström syndrome prevents hyperinsulinemia.
Lee NC et al.
American Journal of Medical Genetics. Part A, 2009
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