S. Payne

发表

Large-scale discovery of novel genetic causes of developmental disorders

Tomas W. Fitzgerald, M. Hurles, J. Barrett, 2014, Nature.

The UK10K project identifies rare variants in health and disease

Tom R. Gaunt, Hashem A. Shihab, Gail P. Clement, 2016 .

Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems

P. Froguel, A. Blakemore, S. Holder, 2011, American journal of medical genetics. Part A.

2018-1105 CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Alessandro, G. J. Swaminathan, A. Green, 2019 .

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

G. J. Swaminathan, N. Carter, M. Hurles, 2019, American journal of human genetics.

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2017, Scientific Reports.

Practice Guidelines for the Evaluation of Pathogenicity and the Reporting of Sequence Variants in Clinical Molecular Genetics .

A. Devereau, Z. Deans, S. Abbs, 2013 .

Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis.

A. Green, T. Sepp, J. Yates, 1997, Human molecular genetics.

Hereditary mixed polyposis syndrome due to a BMPR1A mutation

D. Winter, D. Winter, S. Payne, 2009, Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland.

An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation

M. Novelli, N. Canham, J. Mackay, 2007, Familial Cancer.

Genotype analysis in cystic fibrosis in relation to the occurrence of diabetes mellitus

D. Barton, C. Hales, J. Shneerson, 1993, Clinical genetics.

A genetic register for von Hippel-Lindau disease.

R. Whitehouse, D. Evans, M. Teare, 1996, Journal of medical genetics.

Universitet Low-frequency variation in TP 53 has large effects on head circumference and intracranial

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2019 .

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Tom R. Gaunt, Hashem A. Shihab, Gail P. Clement, 2018, bioRxiv.

R. Eeles, R. Houlston, P. Sasieni, 2007, Familial Cancer.

Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation

T. Cole, S. Payne, C. Moss, 2006, The British journal of dermatology.

Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene.

B. Zbar, M. Ferguson-Smith, F. Richards, 1995, Human molecular genetics.

Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2019, Nature Communications.

Evaluation of molecular genetic diagnosis in the management of familial adenomatous polyposis coli: a population based study.

Y. Nakamura, D. Barton, H. Nagase, 1993, Journal of medical genetics.

Biallelic mutation of MSH2 in primary human cells is associated with sensitivity to irradiation and altered RAD51 foci kinetics

J. R. Morris, N. Sebire, R. Camplejohn, 2007, Journal of Medical Genetics.

Unusual presentation of Lynch Syndrome

R. Eeles, S. Shanley, A. Barrett, 2009, Hereditary cancer in clinical practice.

Edinburgh Research Explorer Unusual presentation of Lynch Syndrome

R. Eeles, S. Shanley, D. Goudie, 2009 .

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

Tom R. Gaunt, Thomas M. Keane, Chin Yang Shapland, 2018, bioRxiv.

Autistic-like behaviour profile and psychiatric morbidity in Fragile X Syndrome

A. Wijeratne, N. Murthy, S. Payne, 2003, European child & adolescent psychiatry.

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Tom R. Gaunt, Klaudia Walter, Nicholas J Timpson, 2015, Nature Communications.

Multiple mitochondrial DNA deletions in monozygotic twins with OPMD

N. Wood, D. Healy, M. Davis, 2007, Journal of Neurology, Neurosurgery, and Psychiatry.

The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis

Ian Tomlinson, Andrew Rowan, Susan Clark, 1999, Nature Medicine.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2016, bioRxiv.

CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, G. J. Swaminathan, A. Green, 2019 .

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2017, Scientific Reports.

Practice Guidelines for the Evaluation of Pathogenicity and the Reporting of Sequence Variants in Clinical Molecular Genetics .

A. Devereau, Z. Deans, S. Abbs, 2013 .

UK 10 K Consortium

Tom R. Gaunt, Hashem A. Shihab, Gail P. Clement, 2019 .

A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.

J. Yates, S. Payne, J. D. Scott, 1996, Human molecular genetics.

Cystic fibrosis identified by neonatal screening: incidence, genotype, and early natural history.

D. Barton, S. Payne, R. Mcmahon, 1993, Archives of disease in childhood.

Direct, non-radioactive detection of mutations in multiple endocrine neoplasia type 2A families.

B. Ponder, C. Healey, D. Barton, 1994, Human molecular genetics.

Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.

A. Webster, A. Moore, F. Richards, 1996, Journal of medical genetics.

Stickler syndrome: Correlation between vitreoretinal phenotypes and linkage to COL 2A1

D. Barton, J. Yates, S. Payne, 1994, Eye.

Improved genetic mapping of X linked retinoschisis.

D. Barton, A. Moore, J. Yates, 1996, Journal of medical genetics.

retinoschisis . Improved genetic mapping of X linked

D. Barton, A. Moore, J. Yates, 2022 .

Development of a denaturing high-performance liquid chromatography screening method for SMAD4 in juvenile polyposis syndrome

S. Payne, A. Trewick, S. L. Hatch, 2007, Annals of clinical biochemistry.

Molecular genetic analysis of the 3p- syndrome.

M E Phipps, J. Tolmie, M. Lerman, 1994, Human molecular genetics.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, Nature Communications.

Clinical correlation and molecular evaluation confirm that the MLH1 p.Arg182Gly (c.544A>G) mutation is pathogenic and causes Lynch syndrome

D. Hughes, S. Hodgson, P. Daly, 2012, Familial Cancer.

Two novel polymorphisms (E277K and V212V) in the haemochromatosis gene HFE

S. Payne, Rachel Bradbury, Elizabeth Fagan, 2000, Human mutation.

A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes.

K. Chotai, S. Payne, Stewart J. Payne, 1998, Journal of medical genetics.

Evidence against a major genetic basis for combined breast and colorectal cancer susceptibility

I. Tomlinson, S. Hodgson, A. Rowan, 2006, Clinical genetics.

Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer

R. Houlston, D. Evans, I. Tomlinson, 2002, Oncogene.

Molecular diagnosis of genetic disease

S. Payne, 1997 .

Best practice guidelines for molecular analysis of colorectal polyposis : familial adenomatous polyposis coli ( FAP ) and MUTYH-associated polyposis ( MAP )

S. Payne, F. Macdonald, 2011 .

Protracted course of N-acetylaspartic aciduria in two non-Jewish siblings: identical clinical and magnetic resonance imaging findings

D. Zafeiriou, W. Kleijer, S. Payne, 1999, Brain and Development.

Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease.

D. Zafeiriou, H. Omran, J. Sass, 2005, Neuropediatrics.

Genetic testing in inherited polyposis syndromes – how and why?

S. Payne, S. Clark, G. H. Lee, 2014, Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland.

The UK10K project identifies rare variants in health and disease

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2015, Nature.

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

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, American journal of human genetics.

A PCR generated AccI RFLP in the 3' untranslated region of the von Hippel-Lindau disease (VHL) tumour suppressor gene.

F. Richards, E. Maher, S. Payne, 1994, Human molecular genetics.

Presymptomatic diagnosis of von Hippel-Lindau disease with flanking DNA markers.

D. Barton, J. Yates, M. Chiano, 1992, Journal of medical genetics.

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Tom R. Gaunt, Thomas M. Keane, Hashem A. Shihab, 2015, Nature Communications.