List of works - Benedikt Reiz - Paulina

List of works by Benedikt Reiz

46,XY Gonadal Dysgenesis due to a Homozygous Mutation in Desert Hedgehog (DHH) Identified by Exome Sequencing

scientific article published on 30 April 2015

A familial congenital heart disease with a possible multigenic origin involving a mutation in BMPR1A

A genomic exploration identifies mechanisms that may explain adverse cardiovascular effects of COX-2 inhibitors

scientific article published on 31 August 2017

A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene

scientific article

Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expression

scientific article published on 9 May 2017

Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics

Hidden mutations in Cornelia de Lange syndrome limitations of sanger sequencing in molecular diagnostics

scientific article published on 2 December 2014

Making Genomes Visible

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

scientific article published on 24 January 2017

New NR5A1 mutations and phenotypic variations of gonadal dysgenesis

scientific article

Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene Mutation

scientific article published on 18 December 2015

Prediction of Causal Candidate Genes in Coronary Artery Disease Loci

scientific article

Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction

scientific article

Tippfehler im Genom: erbliche Ursachen von Herzerkrankungen

Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia

scientific article

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