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Two novel SCN9A mutations causing insensitivity to pain

Pain (Amsterdam), 2009-05, Vol.143 (1), p.155-158

2009

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The molecular landscape of ASPM mutations in primary microcephaly

Journal of medical genetics, 2009-04, Vol.46 (4), p.249-253

2009

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Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome

American journal of human genetics, 2006-08, Vol.79 (2), p.402-408

2006

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ASPM mutations identified in patients with primary microcephaly and seizures

Journal of medical genetics, 2005-09, Vol.42 (9), p.725-729

2005

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Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation

Journal of medical genetics, 2002-10, Vol.39 (10), p.718-721

2002

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Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism

Journal of medical genetics, 2003-03, Vol.40 (3), p.183-187

2003

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Microcephaly

Current biology, 2014-12, Vol.24 (23), p.R1109-R1111

2014

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Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

Nature genetics, 1999-12, Vol.23 (4), p.421-424

1999

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Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation

Neurology, 2004-05, Vol.62 (10), p.1722-1728

2004

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Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome

Journal of medical genetics, 2006-09, Vol.43 (9), p.750-754

2006

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A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and ExcludeAR

Journal of medical genetics, 2004-08, Vol.41 (8), p.e101-e101

2004

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Autosomal Recessive Primary Microcephaly (MCPH): A Review of Clinical, Molecular, and Evolutionary Findings

American journal of human genetics, 2005-05, Vol.76 (5), p.717-728

2005

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Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36

Journal of medical genetics, 2001-10, Vol.38 (10), p.680-682

2001

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Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum

Journal of medical genetics, 2003-07, Vol.40 (7), p.543-546

2003

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Human NDE1 splicing and mammalian brain development

Scientific reports, 2017-03, Vol.7 (1), p.43504-43504, Article 43504

2017

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A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2

Journal of medical genetics, 2003-07, Vol.40 (7), p.540-542

2003

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The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy

Journal of medical genetics, 2005-02, Vol.42 (2), p.e10-e10

2005

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A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy

Journal of medical genetics, 2011-02, Vol.48 (2), p.131-135

2011

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Risk of breast cancer and other cancers in heterozygotes for ataxia-telangiectasia

British journal of cancer, 1999-03, Vol.79 (7-8), p.1304-1307

1999

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A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

Nature genetics, 2003-04, Vol.33 (4), p.497-501

2003

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ASPM is a major determinant of cerebral cortical size

Nature genetics, 2002-10, Vol.32 (2), p.316-320

2002

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Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive Disease

American journal of human genetics, 2006-05, Vol.78 (5), p.889-896

2006

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Aicardi-Goutières Syndrome Displays Genetic Heterogeneity with One Locus ( AGS1) on Chromosome 3p21

American journal of human genetics, 2000-07, Vol.67 (1), p.213-221

2000

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Congenital glaucoma and brain stem atrophy as features of Aicardi–Goutières syndrome

American journal of medical genetics. Part A, 2004-09, Vol.129A (3), p.303-307

2004

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Primary Autosomal Recessive Microcephaly (MCPH1) Maps to Chromosome 8p22-pter

American journal of human genetics, 1998-08, Vol.63 (2), p.541-546

1998

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Two novel SCN9A mutations causing insensitivity to pain

The molecular landscape of ASPM mutations in primary microcephaly

Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome

ASPM mutations identified in patients with primary microcephaly and seizures

Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation

Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism

Microcephaly

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation

Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome

A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and ExcludeAR

Autosomal Recessive Primary Microcephaly (MCPH): A Review of Clinical, Molecular, and Evolutionary Findings

Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36

Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum

Human NDE1 splicing and mammalian brain development

A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2

The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy

A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy

Risk of breast cancer and other cancers in heterozygotes for ataxia-telangiectasia

A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

ASPM is a major determinant of cerebral cortical size

Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive Disease

Aicardi-Goutières Syndrome Displays Genetic Heterogeneity with One Locus ( AGS1) on Chromosome 3p21

Congenital glaucoma and brain stem atrophy as features of Aicardi–Goutières syndrome

Primary Autosomal Recessive Microcephaly (MCPH1) Maps to Chromosome 8p22-pter

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