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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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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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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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Schizophrenia risk polymorphisms in the TCF4 gene interact with smoking in the modulation of auditory sensory gating

Proceedings of the National Academy of Sciences - PNAS, 2012-04, Vol.109 (16), p.6271-6276

2012

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NDST1 missense mutations in autosomal recessive intellectual disability

American journal of medical genetics. Part A, 2014-11, Vol.164A (11), p.2753-2763

2014

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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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Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration

European journal of human genetics : EJHG, 2016-03, Vol.24 (3), p.392-399

2016

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VEGF Gene Haplotypes Are Associated With Sarcoidosis

Chest, 2010-01, Vol.137 (1), p.156-163

2010

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

Nature genetics, 2012-09, Vol.44 (9), p.968-971

2012

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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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Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease

Nature genetics, 2001-07, Vol.28 (3), p.218-219

2001

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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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Polymorphisms in the Genes Encoding Chemokine Receptor 5, Interleukin-10, and Monocyte Chemoattractant Protein 1 Contribute to Cytomegalovirus Reactivation and Disease after Allogeneic Stem Cell Transplantation

Journal of Clinical Microbiology, 2006-05, Vol.44 (5), p.1847-1850

2006

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Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate

Nature genetics, 2010-01, Vol.42 (1), p.24-26

2010

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A New Sex-Specific Genetic Map of the Human Pseudoautosomal Regions (PAR1 and PAR2)

Human heredity, 2009-01, Vol.68 (3), p.192-200

2009

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Ein Geburtstagsgruß für Hans-Hilger Ropers

Medizinische Genetik, 2023-11, Vol.35 (4), p.303-305

Wienker, Thomas F.

2023

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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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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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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

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

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

Schizophrenia risk polymorphisms in the TCF4 gene interact with smoking in the modulation of auditory sensory gating

NDST1 missense mutations in autosomal recessive intellectual disability

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

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration

VEGF Gene Haplotypes Are Associated With Sarcoidosis

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

SNP-Based Analysis of Genetic Substructure in the German Population

Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease

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

Polymorphisms in the Genes Encoding Chemokine Receptor 5, Interleukin-10, and Monocyte Chemoattractant Protein 1 Contribute to Cytomegalovirus Reactivation and Disease after Allogeneic Stem Cell Transplantation

Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate

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

A New Sex-Specific Genetic Map of the Human Pseudoautosomal Regions (PAR1 and PAR2)

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

Ein Geburtstagsgruß für Hans-Hilger Ropers

The First Genomewide Interaction and Locus-Heterogeneity Linkage Scan in Bipolar Affective Disorder: Strong Evidence of Epistatic Effects between Loci on Chromosomes 2q and 6q

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

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

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