List of works - Efraim H Rosenberg

19p13.1 is a triple-negative-specific breast cancer susceptibility locus

scientific article published on 13 February 2012

A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal

scientific article

Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

scientific article

Crizotinib treatment for patients with EGFR mutation positive NSCLC that acquire cMET amplification after EGFR TKI therapy results in short-lived and heterogeneous responses

scientific article published on 30 July 2018

Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.

scientific article

Detection of variants in SLC6A8 and functional analysis of unclassified missense variants

scientific article published on 6 January 2012

Double somatic mutations in mismatch repair genes are frequent in colorectal cancer after Hodgkin's lymphoma treatment

scientific article published on 8 November 2016

HPV-negative squamous cell carcinoma of the anal canal is unresponsive to standard treatment and frequently carries disruptive mutations in TP53

scientific article

High prevalence of SLC6A8 deficiency in X-linked mental retardation

scientific article

Immune-escape markers in relation to clinical outcome of advanced melanoma patients following immunotherapy.

scientific article

Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification

scientific article published on 13 May 2009

Overexpression of wild-type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8-deficient fibroblasts.

scientific article published in April 2006

Phase II Study of WEE1 Inhibitor AZD1775 Plus Carboplatin in Patients With TP53-Mutated Ovarian Cancer Refractory or Resistant to First-Line Therapy Within 3 Months

scientific article

RAD51B in Familial Breast Cancer

scientific article

X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.

scientific article

[BRCAmutations more frequent in people of Jewish ancestry]

scientific article published on 01 March 2019

List of works by Efraim H Rosenberg

19p13.1 is a triple-negative-specific breast cancer susceptibility locus

A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal

Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

Crizotinib treatment for patients with EGFR mutation positive NSCLC that acquire cMET amplification after EGFR TKI therapy results in short-lived and heterogeneous responses

Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.

Detection of variants in SLC6A8 and functional analysis of unclassified missense variants

Double somatic mutations in mismatch repair genes are frequent in colorectal cancer after Hodgkin's lymphoma treatment

HPV-negative squamous cell carcinoma of the anal canal is unresponsive to standard treatment and frequently carries disruptive mutations in TP53

High prevalence of SLC6A8 deficiency in X-linked mental retardation

Immune-escape markers in relation to clinical outcome of advanced melanoma patients following immunotherapy.

Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification

Overexpression of wild-type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8-deficient fibroblasts.

Phase II Study of WEE1 Inhibitor AZD1775 Plus Carboplatin in Patients With TP53-Mutated Ovarian Cancer Refractory or Resistant to First-Line Therapy Within 3 Months

RAD51B in Familial Breast Cancer

X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology.

[BRCAmutations more frequent in people of Jewish ancestry]