Rachid Karam
0000-0002-5645-498X
12 papers found
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Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C
An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance
Classification of the canonical splice alteration MUTYH c.934-2A > G is likely benign based on RNA and clinical data
Reticular dysgenesis caused by an intronic pathogenic variant in AK2
Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes
Targeting cellular heterogeneity with CXCR2 blockade for the treatment of therapy-resistant prostate cancer
Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico
RNA Analysis Identifies Pathogenic Duplications in MSH2 in Patients With Lynch Syndrome
Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing
Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants
A novel de novo CDH1 germline variant aids in the classification of carboxy-terminal E-cadherin alterations predicted to escape nonsense-mediated mRNA decay
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