Associated Papers
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases.
Choi WJ et al.
Scientific Reports, 2024
Germline Variants in Cancer Genes from Young Breast Cancer Mexican Patients.
Gómez-Flores-Ramos L et al.
Cancers, 2022
The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma.
Hubert JN et al.
Cancers, 2021
34067022 (PubMed )
Supplement: cancers-13-02243-s001.zip › Hubert_Suybeng_MelanomaRCC_Supp_Tables_proofread.xlsx › Table_S3
Coatopathies: Genetic Disorders of Protein Coats.
Dell'Angelica EC et al.
Annual Review of Cell and Developmental Biology, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development.
Nahorski MS et al.
Brain : a Journal of Neurology, 2015
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