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Prediction of Causal Candidate Genes in Coronary Artery Disease Loci

Arteriosclerosis, thrombosis, and vascular biology, 2015-10, Vol.35 (10), p.2207

2015

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New NR5A1 mutations and phenotypic variations of gonadal dysgenesis

PloS one, 2017-05, Vol.12 (5), p.e0176720-e0176720

2017

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

Scientific reports, 2019-02, Vol.9 (1), p.2959-2959, Article 2959

2019

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Tippfehler im Genom: erbliche Ursachen von Herzerkrankungen

Biospektrum, 2013-10, Vol.19 (6), p.642-644

2013

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Analysis of candidate genes for cleft lip ± cleft palate using murine single-cell expression data

Frontiers in cell and developmental biology, 2023-04, Vol.11, p.1091666-1091666

2023

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

Human mutation, 2015-01, Vol.36 (1), p.26-29

2015

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Human variation in population-wide gene expression data predicts gene perturbation phenotype

iScience, 2022-11, Vol.25 (11), p.105328-105328, Article 105328

2022

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

European journal of human genetics : EJHG, 2016-02, Vol.24 (2), p.191-197

2016

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

The journal of clinical endocrinology and metabolism, 2015-07, Vol.100 (7), p.E1022-E1029

2015

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

Human molecular genetics, 2017-08, Vol.26 (15), p.2975-2983

2017

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

Human mutation, 2015-01, Vol.36 (1), p.26-29

2015

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Alveolar macrophages in early stage COPD show functional deviations with properties of impaired immune activation

Frontiers in immunology, 2022-07, Vol.13

2022

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

Scientific reports, 2017-08, Vol.7 (1), p.10252-10252, Article 10252

2017

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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

Molecular genetics & genomic medicine, 2015-03, Vol.3 (2), p.111-120

2015

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

BMC cardiovascular disorders, 2014-08, Vol.14 (1), p.108-108, Article 108

2014

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

Human mutation, 2015-02, Vol.36 (2), p.279-280

2015

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Hidden Mutations in CdLS - Limitations of Sanger Sequencing in Molecular Diagnostics

Human mutation, 2015-01, Vol.36 (1), p.26-29

2015

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

Sexual development, 2015-01, Vol.9 (5), p.260-268

2015

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Prediction of Causal Candidate Genes in Coronary Artery Disease Loci

New NR5A1 mutations and phenotypic variations of gonadal dysgenesis

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

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

Tippfehler im Genom: erbliche Ursachen von Herzerkrankungen

Analysis of candidate genes for cleft lip ± cleft palate using murine single-cell expression data

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

Human variation in population-wide gene expression data predicts gene perturbation phenotype

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

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

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

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

Alveolar macrophages in early stage COPD show functional deviations with properties of impaired immune activation

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

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

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

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

Hidden Mutations in CdLS - Limitations of Sanger Sequencing in Molecular Diagnostics

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

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