Associated Papers
Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare system.
Wagner JT et al.
Frontiers in Molecular Biosciences, 2025
41158875 (PubMed )
Supplement: DataSheet1.xlsx › H
The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
Maksiutenko EM et al.
International Journal of Molecular Sciences, 2023
38139401 (PubMed )
Supplement: ijms-24-17572-s001.zip › Supplementary_Table_S1.xlsx › Sheet1
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
36896237 (PubMed )
Supplement: Table1.xlsx › clinvar_breastcancer_allvariant
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3B
Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.
Karam R et al.
Jama Network Open, 2019
31642931 (PubMed )
Supplement: jamanetwopen-2-e1913900-s001.pdf
Patients' Medical and Psychosocial Experiences After Detection of a CDH1 Variant With Multigene Panel Testing.
Hamilton JG et al.
Jco Precision Oncology, 2019
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
DeRycke MS et al.
Molecular Genetics & Genomic Medicine, 2017
Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic predispositions for BRCAx familial breast cancer.
Wen H et al.
Bmc Cancer, 2014
24969172 (PubMed )
Supplement: 1471-2407-14-470-S2.xlsx › Proband-specific_variants
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Bodian DL et al.
Plos One, 2014
24728327 (PubMed )
Supplement: pone.0094554.s002.xlsx › Table_S1
Familial melanoma-astrocytoma syndrome: synchronous diffuse astrocytoma and pleomorphic xanthoastrocytoma in a patient with germline CDKN2A/B deletion and a significant family history.
Chan AK et al.
Clinical Neuropathology, 0
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