V. Murday

发表

Balancing autonomy and responsibility: the ethics of generating and disclosing genetic information

R. Eeles, A. Ardern-Jones, N. Hallowell, 2003, Journal of medical ethics.

Large-scale discovery of novel genetic causes of developmental disorders

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

A survey of phenotypic features in juvenile polyposis.

S. Hodgson, P. Milla, V. Murday, 1998, Journal of medical genetics.

Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have mutations in the putative forkhead transcription factor FOXL2.

M. Patton, V. Murday, R. Bell, 2001, Genetic testing.

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.

E. Zackai, M. Simpson, M. Patton, 2007, American journal of human genetics.

Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

Rodney J Scott, Finlay Macrae, Annika Lindblom, 2011, The Lancet.

Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21.

W. Mckenna, R. Houlston, V. Murday, 1998, Circulation.

Novel SCN5A mutation in amiodarone-responsive multifocal ventricular ectopy-associated cardiomyopathy.

A. George, V. Murday, K. McLeod, 2014, Heart rhythm.

Tumor risks and genotype–phenotype–proteotype analysis in 358 patients with germline mutations in SDHB and SDHD

Fiona Douglas, Louise Izatt, Patrick J Morrison, 2010, Human mutation.

The cancer family clinic

R. Eeles, V. Murday, 1996 .

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.

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome

J. Tolmie, E. Tobias, B. Gener, 2010, Human mutation.

Feasibility of family based screening for colorectal neoplasia: experience in one general surgical practice.

P. Quirke, D. Bishop, V. Murday, 1993, Gut.

Germline PTEN mutations in Cowden syndrome-like families.

R. Eeles, R. Houlston, K. Hughes, 1998, Journal of medical genetics.

Screening for Genetic Susceptibility to Paediatric Tumours

V. Murday, 2016 .

Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation.

J. Hancox, V. Murday, D. Moore, 2017, European journal of medical genetics.

The impact of genetic counselling on risk perception and mental health in women with a family history of breast cancer

Michael J. Watson, R. Eeles, S. Ebbs, 1999, British Journal of Cancer.

Family history of breast cancer: what do women understand and recall about their genetic risk?

R. Eeles, M. Watson, V. Murday, 1998, Journal of medical genetics.

Familial dilated cardiomyopathy in the United Kingdom.

W. McKenna, A. Caforio, V. Murday, 1995, British heart journal.

Familial cancer syndromes

B. Ponder, R. Eeles, D. Easton, 1994, The Lancet.

Edinburgh Research Explorer Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer

D. Bishop, R. Scott, A. Lindblom, 2022 .

An audit of screening for familial breast cancer before 50 years in the South Thames Region – have we got it right?

R. Eeles, S. Hodgson, V. Murday, 2004, Familial Cancer.

Irbesartan in Marfan syndrome (AIMS): a double-blind, placebo-controlled randomised trial

Scott A. Prentice, Jessica M. Powell, Sharon L. Burns, 2019, The Lancet.

Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer

R. Scott, A. Lindblom, J. Lubiński, 2016 .

Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer

David Evans, R. Scott, D. Evans, 2016 .

PTEN mutations are uncommon in Proteus syndrome

R. Houlston, J. Shipley, K. Barker, 2001, Journal of medical genetics.

Does genetic counseling have any impact on management of breast cancer risk?

R. Eeles, S. Ebbs, M. Watson, 2005, Genetic testing.

Psychosocial impact of testing (by linkage) for the BRCA1 breast cancer gene: An investigation of two families in the research setting

D. Easton, S. Seal, B. Ponder, 1996 .

Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy?

S. Seal, B. Ponder, R. Eeles, 1994, Journal of medical genetics.

Genetic testing in breast/ovarian cancer (BRCA1) families

B. Ponder, R. Eeles, M. Watson, 1995, The Lancet.

Further observations on LKB1/STK11 status and cancer risk in Peutz–Jeghers syndrome

R. Houlston, D. Eccles, I. Tomlinson, 2003, British Journal of Cancer.

Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations

Nazneen Rahman, Carel Meijers, Julian Peto, 2002, Nature Genetics.

Apparent Mendelian inheritance of breast and colorectal cancer: chance, genetic heterogeneity or a new gene?

L. Lipton, R. Eeles, R. Houlston, 2004, Familial Cancer.

Helicobacter gastritis and intestinal metaplasia in a gastric cancer family

P. Quirke, V. Murday, M. Dixon, 1990, The Lancet.

Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

K. Byth, X. Jeunemaître, J. Bertherat, 2006, The Journal of clinical endocrinology and metabolism.

Analysis of lymphoedema-distichiasis families forFOXC2 mutations reveals small insertions and deletions throughout the gene

K. Burnand, S. Mansour, D. Callen, 2001, Human Genetics.

Genetic counselling in the cancer family clinic.

V. Murday, V. Murday, 1994, European journal of cancer.

Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24

K. Burnand, S. Mansour, A. Child, 2002, Journal of medical genetics.

Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect.

E. Tobias, R. Lindsay, N. Bradshaw, 2011, The Journal of clinical endocrinology and metabolism.

CpG island clones from a deletion encompassing the gene for adenomatous polyposis coli.

W. Bodmer, D. Sheer, L. Varesco, 1989, Proceedings of the National Academy of Sciences of the United States of America.

Genetic mapping of hereditary mixed polyposis syndrome to chromosome 6q.

W. Bodmer, I. Talbot, D. Sheer, 1996, American journal of human genetics.

Colonoscopy in symptomatic patients with positive family history of colorectal cancer.

K. Syrigos, V. Murday, R. Leicester, 2000, Anticancer research.

Screening for Colorectal Neoplasia in Families

D. Bishop, V. Murday, P. Finan, 1992 .

Analysis of Li-Fraumeni syndrome and Li-Fraumeni-like families for germline mutations in Bcl10.

R. Eeles, R. Houlston, V. Murday, 1999, Cancer letters.

A de-novo deletion of dystrophin provoking severe 'peri-partum cardiomyopathy': The importance of genetic testing in peripartum cardiomyopathy to uncover female carriers.

V. Murday, C. Longman, A. Khand, 2016, International journal of cardiology.

Linkage analysis of early-onset breast and ovarian cancer families, with markers on the long arm of chromosome 17.

D. Kelsell, D. Bishop, N. Spurr, 1993, American journal of human genetics.

Autosomal recessive Robinow syndrome is caused by homozygous mutations in ROR2.

M. Patton, B. Tüysüz, V. Murday, 2000 .

Emberger syndrome—Primary lymphedema with myelodysplasia: Report of seven new cases

G. Mufti, T. Vulliamy, R. Keenan, 2010, American journal of medical genetics. Part A.

Familial colorectal cancer and familial adenomatous polyposis.

V. Murday, J. Northover, 1989, Bailliere's clinical gastroenterology.

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.

C Eng, K. Lunetta, C. Romano, 1999, Human molecular genetics.

Clinical and molecular features of the hereditary mixed polyposis syndrome.

W. Bodmer, J. Jass, I. Talbot, 1997, Gastroenterology.

Localization of the gene for familial adenomatous polyposis on chromosome 5

F. C. Lucibello, P. Scambler, J. Bodmer, 1987, Nature.

Localization of the gene for Cowden disease to chromosome 10q22–23

E. Mariman, D. Easton, R. Eeles, 1996, Nature Genetics.

The mutational spectrum in Waardenburg syndrome.

W. Reardon, M. Tassabehji, E. Obersztyn, 1994, Human molecular genetics.

Genetic predisposition to cancer: the consequences of a delayed diagnosis of Gorlin syndrome.

R. Eeles, V. Murday, G. Mitchell, 2005, Clinical oncology (Royal College of Radiologists (Great Britain)).

Three novel mutations of the proto-oncogene KIT cause human piebaldism.

M. Patton, P. Syrris, V. Murday, 2000, American journal of medical genetics.

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

Yu Wang, Zhaoshi Jiang, Gregory M. Cooper, 2008, Nature Genetics.

Isolation and sequencing of CA/GT repeat microsatellites from chromosomal libraries without subcloning.

V. Murday, G. R. Taylor, S. Haward, 1992, Analytical biochemistry.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, 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 .

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

X-linked cataract and Nance-Horan syndrome are allelic disorders

Soo-Mi Park, T. Webb, A. Moore, 2009, Human molecular genetics.

Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2

M. Patton, B. Tüysüz, A. Wilkie, 2000, Nature Genetics.

Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22

R. Houlston, M. Patton, V. Murday, 2000, Human Genetics.

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.

Gunnar Houge, Stefan Johansson, Martin S. Taylor, 2014, American journal of human genetics.

Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study.

D. Bishop, R. Scott, D. Evans, 2015, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Genetic testing for women previously diagnosed with breast/ovarian cancer: examining the impact of BRCA1 and BRCA2 mutation searching.

R. Eeles, N. Hallowell, M. Watson, 2002, Genetic testing.

Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection.

S. Kenwrick, H. Woffendin, S. Mansour, 2001, American journal of medical genetics.

A gene for lymphedema-distichiasis maps to 16q24.3.

A. Sigurdsson, M. Stratton, N. Rahman, 1999, American journal of human genetics.

Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins

J. Connor, V. Murday, J. Fantes, 2005, Journal of Medical Genetics.

Reduction of the genetic interval for lymphoedema-distichiasis to below 2 Mb

K. Burnand, S. Mansour, D. Callen, 2000, Journal of medical genetics.

Predicting breast cancer risk: implications of a “weak” family history

M. Longmuir, D. Goudie, N. Bradshaw, 2008, Familial Cancer.

Prospective surveillance of women with a family history of breast cancer: auditing the risk threshold

M. Longmuir, D. Goudie, N. Bradshaw, 2008, British Journal of Cancer.

A randomised comparison of UK genetic risk counselling services for familial cancer: psychosocial outcomes

D. Eccles, J. Burn, M. Watson, 2004, British Journal of Cancer.

Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome

R. Houlston, S. Hodgson, P. Morrison, 2005, Journal of Medical Genetics.

Exonic STK 11 deletions are not a rare cause of Peutz-Jeghers syndrome

R. Houlston, S. Hodgson, P. Morrison, 2006 .

9 – Genetics of Colorectal Cancer

Sarah Williams, Walter F. Bodmer, W. Bodmer, 1991 .

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

Sahar Mansour, Richard C Trembath, Russell Keenan, 2011, Nature Genetics.

Clinical features and respiratory complications in Myhre syndrome.

J. Tolmie, R. McGowan, M. Whiteford, 2011, European journal of medical genetics.

Myocardial ischaemia associated with Ehlers-Danlos syndrome.

V. Murday, S. Ford, C. M. Price, 1996, British journal of anaesthesia.

Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD

Douglas E. V. Pires, Soo-Mi Park, A. Antoniou, 2018, Journal of Medical Genetics.

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

R. Houlston, I. Tomlinson, R. Trembath, 2005, BMC Genomics.

Abstract 3673: Molecular analysis of pheochromocytoma aftermaternaltransmission ofSDHDmutation elucidates mechanism of parent-of-origin effect.

E. Tobias, R. Lindsay, N. Bradshaw, 2012 .

Novel features in auriculo-condylar syndrome

R. McGowan, M. Whiteford, D. Koppel, 2011, Clinical dysmorphology.

Biliary hypoplasia in Williams syndrome

V. Murday, P. Mcgrogan, K. O'Reilly, 2006, Archives of Disease in Childhood.

Caudal appendage short terminal phalanges, deafness, cryptorchidism and mental retardation: a new syndrome?

S. Lynch, V. Murday, S. G. Lee, 1994, Clinical dysmorphology.

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.

Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11

Robert W. Taylor, S. Cook, J. Ware, 2016, Cold Spring Harbor molecular case studies.

Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.

P. Lambiase, G. Carr-White, V. Plagnol, 2016, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non‐immune hydrops fetalis

S. Mansour, G. Brice, V. Murday, 2012, Clinical genetics.

An ancestral Ashkenazi haplotype at the HMPS/CRAC1 locus on 15q13-q14 is associated with hereditary mixed polyposis syndrome.

M. Southey, W. Bodmer, A. Rowan, 2003, American journal of human genetics.

Genetic linkage in Muir-Torre syndrome to the same chromosomal region as cancer family syndrome.

J. Burn, D. Bishop, V. Murday, 1994, European journal of cancer.

Diagnostic Use of Skeletal Survey in Suspected Skeletal Dysplasia

V. Murday, M. Donaldson, R. Duncan, 2009, Journal of clinical research in pediatric endocrinology.

syndromes Clinical presentation and penetrance of Pheochromocytoma/ Paraganglioma

K. Byth, X. Jeunemaître, J. Bertherat, 2005 .

A new autosomal recessive syndrome of characteristic facies, joint contractures, skeletal abnormalities, and normal development: second report with further clinical delineation

C. Hall, V. Murday, Y. F. Ransley, 1995, Journal of medical genetics.

Familial colon cancer syndromes and their clinical management

D. Bishop, V. Murday, N. Hall, 1996 .

Muir-Torre syndrome: a variant of the cancer family syndrome.

D. Bishop, V. Murday, J. Newton, 1994, Journal of medical genetics.

Risk estimates for screening adenomatous polyposis coli

R. Houlston, V. Murday, J. Slack, 1990, The Lancet.

Andersen-Tawil syndrome.

I. Findlay, V. Murday, C. Petrie, 2011, International journal of cardiology.

Muir-Torre syndrome: avariant ofthecancer family syndrome

V. Murday, J. Newton, M. Williams, 1994 .

Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

D. Bishop, R. Scott, D. Evans, 2013 .

PTEN mutations are uncommon in Proteus syndrome.

R. Houlston, J. Shipley, K. Barker, 2001, Journal of medical genetics.

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 Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants

N. Rahman, M. Thomas, R. Houlston, 2010 .

Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene.

P. Scambler, W. Reardon, R. Winter, 2000, American journal of human genetics.

Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

D. Bishop, A. Lindblom, J. Lubiński, 2011 .

Screening and genetic counselling for relatives of patients with colorectal cancer in a family cancer clinic.

R. Houlston, V. Murday, C. Williams, 1990, BMJ.

Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer

David Evans, A. Lindblom, J. Lubiński, 2016 .

Emberger syndrome—Primary lymphedema with myelodysplasia: Report of seven new cases

G. Mufti, T. Vulliamy, R. Keenan, 2010, American journal of medical genetics. Part A.

Psychosocial impact of testing (by linkage) for the BRCA1 breast cancer gene: An investigation of two families in the research setting

D. Easton, S. Seal, B. Ponder, 1996 .

Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24

K. Burnand, S. Mansour, A. Child, 2002, Journal of medical genetics.