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An atypical case of hypomethylation at multiple imprinted loci

European journal of human genetics : EJHG, 2011-03, Vol.19 (3), p.360-362

2011

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Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

American journal of human genetics, 2018-01, Vol.102 (1), p.175-187

2018

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Current detection rates and time-to-detection of all identifiable BRCA carriers in the Greater London population

Journal of medical genetics, 2018-08, Vol.55 (8), p.538-545

2018

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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

American journal of human genetics, 2019-06, Vol.104 (6), p.1210-1222

2019

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Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

American journal of human genetics, 2019-05, Vol.104 (5), p.948-956

2019

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Cluster-randomised non-inferiority trial comparing DVD-assisted and traditional genetic counselling in systematic population testing for BRCA1/2 mutations

Journal of medical genetics, 2016-07, Vol.53 (7), p.472-480

2016

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FLT4/VEGFR3 and Milroy Disease: Novel Mutations, a Review of Published Variants and Database Update

Human mutation, 2013-01, Vol.34 (1), p.23-31

2013

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Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome

BMC genomics, 2005-03, Vol.6 (1), p.38-38, Article 38

2005

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A further patient with Noonan syndrome due to a SOS1 mutation and rhabdomyosarcoma

Genes chromosomes & cancer, 2010-10, Vol.49 (10), p.967-968

2010

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Use of probes for ZFY, SRY, and the Y pseudoautosomal boundary in XX males, XX true hermaphrodites, and an XY female

Journal of medical genetics, 1991-09, Vol.28 (9), p.591-595

1991

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An unusual variant detected using a β-globin probe for an individual with the sickle cell trait

Human genetics, 1991-09, Vol.87 (5), p.631-631

1991

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A PvuII polymorphism in the 5' flanking region of the apolipoprotein AIV gene: its use to study genetic variation determining serum lipid and apolipoprotein concentration

Human genetics, 1988-03, Vol.78 (3), p.237-239

1988

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Prenatal diagnosis and the subsequent mutation analysis in a family with carbohydrate-deficient glycoprotein type I syndrome: growing evidence to support founder effects within CDG1 populations

Genetic testing, 1999-01, Vol.3 (3), p.305-307

1999

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Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion

Genetic testing, 2000, Vol.4 (4), p.365-370

2000

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Deregressing estimated breeding values and weighting information for genomic regression analyses

Genetics selection evolution (Paris), 2009-12, Vol.41 (1), p.55-55, Article 55

2009

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Is Reintroduction Biology an Effective Applied Science?

Trends in ecology & evolution (Amsterdam), 2017-11, Vol.32 (11), p.873-880

2017

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Maternal Smoking During Pregnancy and Offspring Birth Weight: A Genetically-Informed Approach Comparing Multiple Raters

Behavior genetics, 2016-05, Vol.46 (3), p.353-364

2016

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Smoking during pregnancy and ADHD risk: A genetically informed, multiple-rater approach

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2016-10, Vol.171B (7), p.971-981

2016

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Accuracies of genomic breeding values in American Angus beef cattle using K-means clustering for cross-validation

Genetics selection evolution (Paris), 2011-11, Vol.43 (1), p.40-40, Article 40

2011

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Passive rGE or Developmental Gene-Environment Cascade? An Investigation of the Role of Xenobiotic Metabolism Genes in the Association Between Smoke Exposure During Pregnancy and Child Birth Weight

Behavior genetics, 2016-05, Vol.46 (3), p.365-377

2016

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Spatial gene expression in the T-stage mouse metanephros

Gene Expression Patterns, 2006-10, Vol.6 (8), p.807-825

2006

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Differential gene expression in the developing mouse ureter

Gene Expression Patterns, 2006-06, Vol.6 (5), p.519-538

2006

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An atypical case of hypomethylation at multiple imprinted loci

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Current detection rates and time-to-detection of all identifiable BRCA carriers in the Greater London population

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Cluster-randomised non-inferiority trial comparing DVD-assisted and traditional genetic counselling in systematic population testing for BRCA1/2 mutations

FLT4/VEGFR3 and Milroy Disease: Novel Mutations, a Review of Published Variants and Database Update

Sequence changes in predicted promoter elements of STK11/LKB1 are unlikely to contribute to Peutz-Jeghers syndrome

A further patient with Noonan syndrome due to a SOS1 mutation and rhabdomyosarcoma

Cystic fibrosis mutation analysis: Report from 22 U.K. regional genetics laboratories

Use of probes for ZFY, SRY, and the Y pseudoautosomal boundary in XX males, XX true hermaphrodites, and an XY female

An unusual variant detected using a β-globin probe for an individual with the sickle cell trait

A PvuII polymorphism in the 5' flanking region of the apolipoprotein AIV gene: its use to study genetic variation determining serum lipid and apolipoprotein concentration

Prenatal diagnosis and the subsequent mutation analysis in a family with carbohydrate-deficient glycoprotein type I syndrome: growing evidence to support founder effects within CDG1 populations

Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion

Deregressing estimated breeding values and weighting information for genomic regression analyses

Is Reintroduction Biology an Effective Applied Science?

Maternal Smoking During Pregnancy and Offspring Birth Weight: A Genetically-Informed Approach Comparing Multiple Raters

Smoking during pregnancy and ADHD risk: A genetically informed, multiple-rater approach

Accuracies of genomic breeding values in American Angus beef cattle using K-means clustering for cross-validation

Passive rGE or Developmental Gene-Environment Cascade? An Investigation of the Role of Xenobiotic Metabolism Genes in the Association Between Smoke Exposure During Pregnancy and Child Birth Weight

Spatial gene expression in the T-stage mouse metanephros

Differential gene expression in the developing mouse ureter

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