List of works - Rachid Karam - Paulina

List of works by Rachid Karam

A novel de novo CDH1 germline variant aids in the classification of carboxy-terminal E-cadherin alterations predicted to escape nonsense-mediated mRNA decay

scientific article published on 01 August 2018

Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing

scientific article published on 19 December 2018

Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

article

Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico

scientific article published on 28 November 2019

RNA Analysis Identifies Pathogenic Duplications in MSH2 in Patients With Lynch Syndrome

scientific article published on 30 January 2019

Reticular dysgenesis caused by an intronic pathogenic variant in AK2

scientific article published on 12 June 2020

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants

scientific article published on 01 November 2018

Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes

scientific article published on 24 February 2020

Targeting cellular heterogeneity with CXCR2 blockade for the treatment of therapy-resistant prostate cancer

scientific article published on 01 December 2019

Paulina is supported by:

About Paulina

Help