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CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients

Journal of medical genetics, 2006-09, Vol.43 (9), p.729-734

2006

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High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer

Journal of medical genetics, 2022-02, Vol.59 (2), p.115-121

2022

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Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

Journal of medical genetics, 2006-05, Vol.43 (5), p.451-456

2006

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Polymorphisms in the VKORC1 gene are strongly associated with warfarin dosage requirements in patients receiving anticoagulation

Journal of medical genetics, 2006-09, Vol.43 (9), p.740-744

2006

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Colorectal cancer susceptibility loci on chromosome 8q23.3 and 11q23.1 as modifiers for disease expression in lynch syndrome

Journal of medical genetics, 2011-04, Vol.48 (4), p.279-284

2011

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Familial pancreatic adenocarcinoma: association with diabetes and early molecular diagnosis

Journal of medical genetics, 1995-05, Vol.32 (5), p.330-335

1995

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Impact of genetic counselling after neonatal screening for Duchenne muscular dystrophy

Journal of medical genetics, 1993-08, Vol.30 (8), p.670-674

1993

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Chromosome survey of total population of mentally subnormal in North-East of Scotland

Journal of medical genetics, 1976-08, Vol.13 (4), p.295-306

1976

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Apparent enhanced response to the induction of sister chromatid exchange by mitomycin C in myotonic dystrophy

Journal of medical genetics, 1982-04, Vol.19 (2), p.135-138

1982

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Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies

Journal of medical genetics, 2005-07, Vol.42 (7), p.602-603

2005

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Spontaneous and mutagen induced sister chromatid exchange in multiple sclerosis

Journal of medical genetics, 1983-10, Vol.20 (5), p.372-376

1983

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A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations

Journal of medical genetics, 2010-11, Vol.47 (11), p.771-774

2010

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Assessment of mismatch repair deficiency in ovarian cancer

Journal of medical genetics, 2021-10, Vol.58 (10), p.687-691

2021

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Prevalence of germline pathogenic BRCA1/2 variants in sequential epithelial ovarian cancer cases

Journal of medical genetics, 2019-05, Vol.56 (5), p.301-307

2019

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Pathogenic variant detection rate varies considerably in male breast cancer families and sporadic cases: minimal additional contribution beyond BRCA2, BRCA1 and CHEK2

Journal of medical genetics, 2024-09, Vol.61 (9), p.853-855

2024

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Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis

Journal of medical genetics, 2024-10, Vol.61 (11), p.1011-1015

2024

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Prevalence of BRCA1 and BRCA2 mutations in triple negative breast cancer

Journal of medical genetics, 2011-08, Vol.48 (8), p.520-522

2011

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NF2-related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study

Journal of medical genetics, 2024-08, Vol.61 (9), p.856-860

2024

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Risk of breast cancer in male BRCA2 carriers

Journal of medical genetics, 2010-10, Vol.47 (10), p.710-711

2010

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Malignant peripheral nerve sheath tumours in neurofibromatosis 1

Journal of medical genetics, 2002-05, Vol.39 (5), p.311-314

2002

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First evidence of genotype–phenotype correlations in Gorlin syndrome

Journal of medical genetics, 2017-08, Vol.54 (8), p.530-536

2017

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Tumour MLH1 promoter region methylation testing is an effective prescreen for Lynch Syndrome (HNPCC)

Journal of medical genetics, 2014-12, Vol.51 (12), p.789-796

2014

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Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients

Journal of medical genetics, 2015-10, Vol.52 (10), p.699-705

2015

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Uptake and efficacy of bilateral risk reducing surgery in unaffected female BRCA1 and BRCA2 carriers

Journal of medical genetics, 2022-02, Vol.59 (2), p.133-140

2022

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Risk reducing mastectomy: outcomes in 10 European centres

Journal of medical genetics, 2009-04, Vol.46 (4), p.254-258

2009

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CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients

High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

Polymorphisms in the VKORC1 gene are strongly associated with warfarin dosage requirements in patients receiving anticoagulation

Colorectal cancer susceptibility loci on chromosome 8q23.3 and 11q23.1 as modifiers for disease expression in lynch syndrome

Familial pancreatic adenocarcinoma: association with diabetes and early molecular diagnosis

Impact of genetic counselling after neonatal screening for Duchenne muscular dystrophy

Chromosome survey of total population of mentally subnormal in North-East of Scotland

Apparent enhanced response to the induction of sister chromatid exchange by mitomycin C in myotonic dystrophy

Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies

Spontaneous and mutagen induced sister chromatid exchange in multiple sclerosis

A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations

Assessment of mismatch repair deficiency in ovarian cancer

Prevalence of germline pathogenic BRCA1/2 variants in sequential epithelial ovarian cancer cases

Pathogenic variant detection rate varies considerably in male breast cancer families and sporadic cases: minimal additional contribution beyond BRCA2, BRCA1 and CHEK2

Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis

Prevalence of BRCA1 and BRCA2 mutations in triple negative breast cancer

NF2-related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study

Risk of breast cancer in male BRCA2 carriers

Malignant peripheral nerve sheath tumours in neurofibromatosis 1

First evidence of genotype–phenotype correlations in Gorlin syndrome

Tumour MLH1 promoter region methylation testing is an effective prescreen for Lynch Syndrome (HNPCC)

Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients

Uptake and efficacy of bilateral risk reducing surgery in unaffected female BRCA1 and BRCA2 carriers

Risk reducing mastectomy: outcomes in 10 European centres

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