Search filters

Authors whose works are in public domain in at least one jurisdiction

List of works by Rebecca Mar-Heyming

Association of stearoyl-CoA desaturase 1 activity with familial combined hyperlipidemia

scientific article

Clinical validity of expanded carrier screening: evaluating the gene-disease relationship in more than 200 conditions

scientific article published on 07 May 2020

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

scientific article published on 04 June 2019

Design and validation of a next generation sequencing assay for hereditary BRCA1 and BRCA2 mutation testing

scientific article published on 28 June 2016

Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening

scientific article published on 01 July 2019

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

scientific article published on 01 November 2018

Systematic design and comparison of expanded carrier screening panels

scientific article

Upstream transcription factor 1 influences plasma lipid and metabolic traits in mice

scientific article

Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification

scientific article published on 14 May 2018

Paulina is supported by:

About Paulina

Help