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Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Nature genetics, 2014-05, Vol.46 (5), p.503-509

2014

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Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

Brain (London, England : 1878), , Vol.136 (10), p.3106-3118

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B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

The Journal of clinical investigation, 2015-08, Vol.125 (8), p.3051-3062

2015

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Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

Nature genetics, 2004-11, Vol.36 (11), p.1159-1161

2004

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Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients

Scientific reports, 2022-09, Vol.12 (1), p.14959-14959, Article 14959

2022

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Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

Nature genetics, 2012-01, Vol.44 (1), p.85-88

2012

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Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies

Circulation. Cardiovascular genetics, 2015-08, Vol.8 (4), p.572

2015

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Mosaic structural variation in children with developmental disorders

Human molecular genetics, 2015-05, Vol.24 (10), p.2733-2745

2015

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Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Nature genetics, 2012-03, Vol.44 (3), p.338-342

2012

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Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

Nature genetics, 2006-08, Vol.38 (8), p.910-916

2006

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DNA copy number variations are important in the complex genetic architecture of müllerian disorders

Fertility and sterility, 2015-04, Vol.103 (4), p.1021-1030.e1

2015

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Mutations in the Embryonal Subunit of the Acetylcholine Receptor ( CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome

American journal of human genetics, 2006-08, Vol.79 (2), p.390-395

2006

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The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P

European journal of human genetics : EJHG, 2014-08, Vol.23 (5), p.561-563

2014

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Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades?

Clinical genetics, 2013-02, Vol.83 (2), p.187-190

2013

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WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations

American journal of medical genetics. Part A, 2007-10, Vol.143A (19), p.2312-2320

2007

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Mutations in the general transcription factor TFIIH result in β-thalassaemia in individuals with trichothiodystrophy

Human molecular genetics, 2001-11, Vol.10 (24), p.2797-2802

2001

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The movement disorders of Coffin–Lowry syndrome

Brain & development (Tokyo. 1979), 2005-03, Vol.27 (2), p.108-113

2005

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Phenotypic Comparison of Two Scottish Families with Mutations in Different Genes Causing Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Epilepsia (Copenhagen), 2003-04, Vol.44 (4), p.613-617

2003

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Functional and Structural Studies of Wild Type SOX9 and Mutations Causing Campomelic Dysplasia

The Journal of biological chemistry, 1999-08, Vol.274 (34), p.24023-24030

1999

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Electro-clinical phenotypes of chromosome disorders associated with epilepsy in the absence of dysmorphism

Brain & development (Tokyo. 1979), 2005-03, Vol.27 (2), p.118-124

2005

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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Nature genetics, 2009-05, Vol.41 (5), p.535-543

2009

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How to use… microarray comparative genomic hybridisation to investigate developmental disorders

Archives of disease in childhood. Education and practice edition, 2015-02, Vol.100 (1), p.24-29

2015

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Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

Brain (London, England : 1878), 2013-10, Vol.136 (10), p.3106-3118

2013

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SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan

European journal of human genetics : EJHG, 2014-08, Vol.22 (8), p.988-994

2014

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Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies

Mosaic structural variation in children with developmental disorders

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

DNA copy number variations are important in the complex genetic architecture of müllerian disorders

Mutations in the Embryonal Subunit of the Acetylcholine Receptor ( CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome

The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P

Results of Duchenne muscular dystrophy family screening in practice: leaks rather than cascades?

WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations

Mutations in the general transcription factor TFIIH result in β-thalassaemia in individuals with trichothiodystrophy

The movement disorders of Coffin–Lowry syndrome

Phenotypic Comparison of Two Scottish Families with Mutations in Different Genes Causing Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Functional and Structural Studies of Wild Type SOX9 and Mutations Causing Campomelic Dysplasia

Electro-clinical phenotypes of chromosome disorders associated with epilepsy in the absence of dysmorphism

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

How to use… microarray comparative genomic hybridisation to investigate developmental disorders

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan

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