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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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Differences in SMN1 allele frequencies among ethnic groups within North America

Journal of medical genetics, 2009-09, Vol.46 (9), p.641-644

2009

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Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide

Journal of medical genetics, 2003-08, Vol.40 (8), p.619-625

2003

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A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment

Journal of medical genetics, 2005-07, Vol.42 (7), p.588-594

2005

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Cancer risks in BRCA2 families: estimates for sites other than breast and ovary

Journal of medical genetics, 2005-09, Vol.42 (9), p.711-719

2005

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The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management

Journal of medical genetics, 2007-09, Vol.44 (9), p.594-602

2007

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Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk

Journal of medical genetics, 2006-12, Vol.43 (12), p.943-949

2006

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Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)

Journal of medical genetics, 2003-01, Vol.40 (1), p.62-64

2003

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The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

Journal of medical genetics, 2007-07, Vol.44 (7), p.472-477

2007

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MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta

Journal of medical genetics, 2005-03, Vol.42 (3), p.271-275

2005

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Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients

Journal of medical genetics, 2005-11, Vol.42 (11), p.863-870

2005

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Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome

Journal of medical genetics, 2006-06, Vol.43 (6), p.531-533

2006

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Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents

Journal of medical genetics, 2006-02, Vol.43 (2), p.180-186

2006

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Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta

Journal of medical genetics, 2004-07, Vol.41 (7), p.545-549

2004

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Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

Journal of medical genetics, 2006-10, Vol.43 (10), p.822-828

2006

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Germline E-cadherin mutations in familial lobular breast cancer

Journal of medical genetics, 2007-11, Vol.44 (11), p.726-731

2007

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Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

Journal of medical genetics, 2005-10, Vol.42 (10), p.780-786

2005

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5,10-methylenetetrahydrofolate reductase (MTHFR) 677C→T and 1298A→C mutations are associated with DNA hypomethylation

Journal of medical genetics, 2004-06, Vol.41 (6), p.454-458

2004

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PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome

Journal of medical genetics, 2004-05, Vol.41 (5), p.373-380

2004

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SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities

Journal of medical genetics, 2005-02, Vol.42 (2), p.159-165

2005

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Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation

Journal of medical genetics, 2006-06, Vol.43 (6), p.527-530

2006

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Unexplained autism is frequently associated with low-level mosaic aneuploidy

Journal of medical genetics, 2007-08, Vol.44 (8), p.521-525

2007

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Molecular diagnosis of autosomal dominant early onset Alzheimer’s disease: an update

Journal of medical genetics, 2005-10, Vol.42 (10), p.793-795

2005

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SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

Journal of medical genetics, 2007-10, Vol.44 (10), p.651-656

2007

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Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis

Journal of medical genetics, 2006-03, Vol.43 (3), p.244-247

2006

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Predicting disease genes using protein–protein interactions

Differences in SMN1 allele frequencies among ethnic groups within North America

Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide

A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment

Cancer risks in BRCA2 families: estimates for sites other than breast and ovary

The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management

Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk

Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)

The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta

Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients

Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome

Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents

Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta

Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

Germline E-cadherin mutations in familial lobular breast cancer

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

5,10-methylenetetrahydrofolate reductase (MTHFR) 677C→T and 1298A→C mutations are associated with DNA hypomethylation

PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome

SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities

Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation

Unexplained autism is frequently associated with low-level mosaic aneuploidy

Molecular diagnosis of autosomal dominant early onset Alzheimer’s disease: an update

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis

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