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Ein Geburtstagsgruß für Hans-Hilger Ropers

Medizinische Genetik, 2023-12, Vol.35 (4), p.303-305

Wienker, Thomas F.

2023

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The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families

PloS one, 2015-08, Vol.10 (8), p.e0129631-e0129631

2015

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Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

eLife, 2016-08, Vol.5

2016

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VarWatch-A stand-alone software tool for variant matching

PloS one, 2019-04, Vol.14 (4), p.e0215618-e0215618

2019

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Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation

PLoS genetics, 2017-04, Vol.13 (4), p.e1006746-e1006746

2017

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PDE3A mutations cause autosomal dominant hypertension with brachydactyly

Nature genetics, 2015-06, Vol.47 (6), p.647-653

2015

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Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy

American journal of human genetics, 2002-02, Vol.70 (2), p.358-368

2002

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Increased gallstone risk in humans conferred by common variant of hepatic ATP‐binding cassette transporter for cholesterol

Hepatology (Baltimore, Md.), 2007-09, Vol.46 (3), p.793-801

2007

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Gender specific differences in levels of DNA methylation at selected loci from human total blood : a tendency toward higher methylation levels in males

Human genetics, 2007-12, Vol.122 (5), p.505-514

2007

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Integrated Sequence Analysis Pipeline Provides One-Stop Solution for Identifying Disease-Causing Mutations

Human mutation, 2014-12, Vol.35 (12), p.1427-1435

2014

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Genome-wide association study of survival from sepsis due to pneumonia: an observational cohort study

The lancet respiratory medicine, 2015-01, Vol.3 (1), p.53-60

2015

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Biallelic missense variants in ZBTB11 can cause intellectual disability in humans

Human molecular genetics, 2018-09, Vol.27 (18), p.3177-3188

2018

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Evaluating information content of SNPs for sample-tagging in re-sequencing projects

Scientific reports, 2015-05, Vol.5 (1), p.10247-10247, Article 10247

2015

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Systemic complement activation in age-related macular degeneration

PloS one, 2008-07, Vol.3 (7), p.e2593-e2593

2008

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De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

Genome medicine, 2013-02, Vol.5 (2), p.11-11

2013

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Occupational Noise, Smoking, and a High Body Mass Index are Risk Factors for Age-related Hearing Impairment and Moderate Alcohol Consumption is Protective: A European Population-based Multicenter Study

Journal of the Association for Research in Otolaryngology, 2008-09, Vol.9 (3), p.264-276

2008

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Homozygous SLC6A17 Mutations Cause Autosomal-Recessive Intellectual Disability with Progressive Tremor, Speech Impairment, and Behavioral Problems

American journal of human genetics, 2015-03, Vol.96 (3), p.386-396

2015

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Redefining the MED13L syndrome

European journal of human genetics : EJHG, 2015-10, Vol.23 (10), p.1308-1317

2015

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Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia

American journal of human genetics, 2005-07, Vol.77 (1), p.140-148

2005

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An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome

European journal of medical genetics, 2020-09, Vol.63 (9), p.103973, Article 103973

2020

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Loss-of-Function Mutations in the Filaggrin Gene and Alopecia Areata: Strong Risk Factor for a Severe Course of Disease in Patients Comorbid for Atopic Disease

Journal of investigative dermatology, 2007-11, Vol.127 (11), p.2539-2543

2007

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Ein Geburtstagsgruß für Hans-Hilger Ropers

The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families

Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

VarWatch-A stand-alone software tool for variant matching

Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation

Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

PDE3A mutations cause autosomal dominant hypertension with brachydactyly

Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy

Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis

Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24

Increased gallstone risk in humans conferred by common variant of hepatic ATP‐binding cassette transporter for cholesterol

Gender specific differences in levels of DNA methylation at selected loci from human total blood : a tendency toward higher methylation levels in males

Integrated Sequence Analysis Pipeline Provides One-Stop Solution for Identifying Disease-Causing Mutations

Genome-wide association study of survival from sepsis due to pneumonia: an observational cohort study

Biallelic missense variants in ZBTB11 can cause intellectual disability in humans

Evaluating information content of SNPs for sample-tagging in re-sequencing projects

Systemic complement activation in age-related macular degeneration

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

Occupational Noise, Smoking, and a High Body Mass Index are Risk Factors for Age-related Hearing Impairment and Moderate Alcohol Consumption is Protective: A European Population-based Multicenter Study

Homozygous SLC6A17 Mutations Cause Autosomal-Recessive Intellectual Disability with Progressive Tremor, Speech Impairment, and Behavioral Problems

Redefining the MED13L syndrome

The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment

Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia

An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome

Loss-of-Function Mutations in the Filaggrin Gene and Alopecia Areata: Strong Risk Factor for a Severe Course of Disease in Patients Comorbid for Atopic Disease

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