Associated Papers
Recessive genetic contribution to congenital heart disease in 5,424 probands.
Dong W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS27_het
Retrospective Analysis of Canadian Adults with Tuberous Sclerosis Complex.
Pal D et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2024
Multimodal framework to resolve variants of uncertain significance in TSC2.
Biar CG et al.
Biorxiv : the Preprint Server for Biology, 2024
38895336 (PubMed )
Supplement: media-2.xlsx › Table_S2
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Jin SC et al.
Nature Genetics, 2017
28991257 (PubMed )
Supplement: NIHMS906719-supplement-1.pdf
Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.
Bahl S et al.
Molecular Autism, 2013
23514105 (PubMed )
Supplement: 2040-2392-4-5-S5.xls › Sheet1
Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex.
Ali M et al.
Acta Neurologica Scandinavica, 2005
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