Associated Papers
The Great Genotyper: a graph-based method for population genotyping of small and structural variants.
Shokrof M et al.
Gigascience, 2025
41041811 (PubMed )
Supplement: giaf112_supplemental_files.zip › Supplementary_table_3.xlsx › case_study
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.
Hiatt SM et al.
Genome Research, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.
Hiatt SM et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.
Tan NB et al.
Journal of Medical Genetics, 2022
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Tran Mau-Them F et al.
Molecular Genetics & Genomic Medicine, 2021
34716697 (PubMed )
Supplement: MGG3-9-e1836-s001.xlsx › Feuil1
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Nassir N et al.
Human Genomics, 2021
34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbMS-non_synonymous_ex
Mutations in G protein β subunits promote transformation and kinase inhibitor resistance.
Yoda A et al.
Nature Medicine, 2015
25485910 (PubMed )
Supplement: NIHMS636733-supplement-1.xlsx › Supplementary_Table_1
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