Associated Papers
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.
Bisarad P et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
41282771 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_3
Tumor immune microenvironment of self-identified African American and non-African American triple negative breast cancer.
Marczyk M et al.
Npj Breast Cancer, 2022
35869114 (PubMed )
Supplement: 41523_2022_449_MOESM2_ESM.xlsx › Table2-Mutation_Details
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.
Provenzano A et al.
Human Genetics, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
Exome Sequencing and Genotyping Identify a Rare Variant in NLRP7 Gene Associated With Ulcerative Colitis.
Onoufriadis A et al.
Journal of Crohn's & Colitis, 2018
29211899 (PubMed )
Supplement: jjx157_suppl_supplemental_table_1.xlsx › Sheet1
Computational screening and molecular dynamics simulation of disease associated nsSNPs in CENP-E.
Kumar A et al.
Mutation Research, 0
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