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The modular nature of genetic diseases

Clinical genetics, 2007-01, Vol.71 (1), p.1-11

2007

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Predicting disease genes using protein–protein interactions

Journal of medical genetics, 2006-08, Vol.43 (8), p.691-698

2006

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POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome

Journal of medical genetics, 2005-12, Vol.42 (12), p.907-912

2005

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Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

Nature communications, 2017-10, Vol.8 (1), p.1052-12, Article 1052

2017

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CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

Journal of medical genetics, 2006-04, Vol.43 (4), p.306-314

2006

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CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy

Molecular psychiatry, 2008-03, Vol.13 (3), p.261-266

2008

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CHD7 mutations in patients initially diagnosed with Kallmann syndrome - the clinical overlap with CHARGE syndrome

Clinical genetics, 2009-01, Vol.75 (1), p.65-71

2009

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Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

Journal of medical genetics, 2009-09, Vol.46 (9), p.598-606

2009

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De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype

Clinical genetics, 2015-01, Vol.87 (1), p.34-41

2015

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Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly

Clinical genetics, 2011-03, Vol.79 (3), p.296-299

2011

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Glyc-O-genetics of Walker-Warburg syndrome

Clinical genetics, 2005-04, Vol.67 (4), p.281-289

2005

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The p63 gene in EEC and other syndromes

Journal of medical genetics, 2002-06, Vol.39 (6), p.377-381

2002

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Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)

Journal of medical genetics, 2004-12, Vol.41 (12), p.892-899

2004

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A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype

Journal of medical genetics, 2003-11, Vol.40 (11), p.845-848

2003

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A genome‐wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus

Genes, brain and behavior, 2014-09, Vol.13 (7), p.675-685

2014

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GeneSeeker: extraction and integration of human disease-related information from web-based genetic databases

Nucleic acids research, 2005-07, Vol.33 (Web Server issue), p.W758

2005

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Abnormal Behavior Associated with a Point Mutation in the Structural Gene for Monoamine Oxidase A

Science (American Association for the Advancement of Science), 1993-10, Vol.262 (5133), p.578-580

1993

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Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome

Journal of medical genetics, 2004-05, Vol.41 (5), p.e61-e61

2004

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Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease

Neurology, 2001-04, Vol.56 (8), p.1059

2001

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Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions

Clinical genetics, 2011-07, Vol.80 (1), p.31-38

2011

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Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis

Journal of medical genetics, 2008-06, Vol.45 (6), p.346-354

2008

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Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome

Journal of medical genetics, 2005-04, Vol.42 (4), p.299-306

2005

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High Prevalence of Premalignant Lesions in Prophylactically Removed Breasts From Women at Hereditary Risk for Breast Cancer

Journal of clinical oncology, 2003-01, Vol.21 (1), p.41-45

2003

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A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum

Clinical genetics, 2010-09, Vol.78 (3), p.275-281

2010

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The modular nature of genetic diseases

Predicting disease genes using protein–protein interactions

POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy

CHD7 mutations in patients initially diagnosed with Kallmann syndrome - the clinical overlap with CHARGE syndrome

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype

Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly

Glyc-O-genetics of Walker-Warburg syndrome

The p63 gene in EEC and other syndromes

Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)

A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype

A genome‐wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

GeneSeeker: extraction and integration of human disease-related information from web-based genetic databases

Abnormal Behavior Associated with a Point Mutation in the Structural Gene for Monoamine Oxidase A

Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome

Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease

Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis

Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome

High Prevalence of Premalignant Lesions in Prophylactically Removed Breasts From Women at Hereditary Risk for Breast Cancer

A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum

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