J. Sampson

发表

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.

S Povey, D Ravine, D Lindhout, 1997, Science.

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

J. Maynard, J. Cheadle, A. C. Jones, 1999, American journal of human genetics.

Sirolimus Therapy for Angiomyolipoma in Tuberous Sclerosis and Sporadic Lymphangioleiomyomatosis: A Phase 2 Trial

K. Pointon, C. Howe, A. Serra, 2011, Clinical Cancer Research.

Cosmid Contigs from the Tuberous Sclerosis Candidate Region on Chromosome 9q34

P. Jong, D. Kwiatkowski, B. Janssen, 1995, European journal of human genetics : EJHG.

Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH

Siân Jones, D. Evans, J. Maynard, 2003, The Lancet.

Leiden open variation database of the MUTYH gene

Peter Devilee, Florentia Fostira, Riccardo Fodde, 2010, Human mutation.

Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database

P. Møller, E. Hovig, S. Nakken, 2015, Gut.

Cross-species comparison of human and mouse intestinal polyps reveals conserved mechanisms in adenomatous polyposis coli (APC)-driven tumorigenesis.

H. Morreau, R. Fodde, P. Franken, 2008, The American journal of pathology.

The clinical profile of tuberous sclerosis complex (TSC) in the United Kingdom: A retrospective cohort study in the Clinical Practice Research Datalink (CPRD).

P. Bolton, J. Sampson, Simon R. Johnson, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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 .

Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish.

R. Sandford, M. Vaudin, R. Sandford, 1996, Human molecular genetics.

Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome.

D. Schlessinger, J. Clayton-Smith, J. Hurst, 1997, Journal of Medical Genetics.

Early onset seizures and Rett-like features associated with mutations in CDKL5

J. Gécz, D. Cooper, A. Clarke, 2005, European Journal of Human Genetics.

Identification and characterization of the tuberous sclerosis gene on chromosome 16

S. Thomas, S. Verhoef, B. Janssen, 1993, Cell.

Efficacy of Dual Inhibition of Glycolysis and Glutaminolysis for Therapy of Renal Lesions in Tsc2+/− Mice1

J. Sampson, M. Shen, Ashley T. Jones, 2019, Neoplasia.

Assessment of Response of Kidney Tumors to Rapamycin and Atorvastatin in Tsc1+/− Mice

J. Sampson, M. Shen, P. Samsel, 2017, Translational oncology.

Epilepsy in Tuberous Sclerosis: Phenotypes, Mechanisms, and Treatments

J. Sampson, A. Saxena, Anurag Saxena, 2015, Seminars in Neurology.

Renal tumours in a Tsc1+/- mouse model show epigenetic suppression of organic cation transporters Slc22a1, Slc22a2 and Slc22a3, and do not respond to metformin.

J. Sampson, M. Shen, M. Kalogerou, 2013, European journal of cancer.

Tuberous Sclerosis: Genetics

J. Cheadle, J. Sampson, 2012 .

Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence

S. McKee, H. Kingston, A. Tee, 2011, European Journal of Human Genetics.

Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex

Stephanie E. Vallee, R. Ekong, M. Wentink, 2011, Human mutation.

Therapeutic targeting of mTOR in tuberous sclerosis.

J. Sampson, 2009, Biochemical Society transactions.

Tuberous sclerosis causing mutants of the TSC2 gene product affect proliferation and p27 expression

J. Cheadle, J. Sampson, M. Hengstschläger, 2001, Oncogene.

The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination

G. Benvenuto, W. Vass, J. Declue, 2000, Oncogene.

Molecular analysis of the TSC1 and TSC2 tumour suppressor genes in sporadic glial and glioneuronal tumours

A. von Deimling, A. Hodges, J. Maynard, 2000, Human Genetics.

Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.

R. Snell, M. Krawczak, J. Cheadle, 1997, Human molecular genetics.

Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.

S. Verhoef, A. V. D. van den Ouweland, D. Lindhout, 1996, Journal of medical genetics.

The kidney in tuberous sclerosis: manifestations and molecular genetic mechanisms.

J. Sampson, 1996, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

A cross sectional study of renal involvement in tuberous sclerosis.

J. Sampson, R. Mueller, J. A. Cook, 1996, Journal of medical genetics.

An Attempt to Map Two Genes for Tuberous Sclerosis Using Novel Two‐Point Methods a

J. Haines, N. Morton, J. Attwood, 1991, Annals of the New York Academy of Sciences.

Identification of markers flanking the tuberous sclerosis locus on chromosome 9 (TSC1).

D. Kwiatkowski, M. Nellist, J. Sampson, 1993, Journal of medical genetics.

Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.

D. Evans, P. Wark, J. Sampson, 2009, Gastroenterology.

Analysis of genetic and phenotypic heterogeneity in juvenile polyposis

W. Bodmer, R. Houlston, B. Leggett, 2000, Gut.

MUTYH-associated polyposis--from defect in base excision repair to clinical genetic testing.

J. Cheadle, J. Sampson, 2007, DNA repair.

Tuberin and hamartin are aberrantly expressed and linked to clinical outcome in human breast cancer: the role of promoter methylation of TSC genes.

G. Watkins, R. Mansel, W. Jiang, 2005, European journal of cancer.

Characterizing mutations in samples with low‐level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes

Siân Jones, J. Maynard, J. Cheadle, 2003, Human mutation.

Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation

A. Pagnamenta, Jenny C. Taylor, A. Fry, 2021, Journal of Medical Genetics.

Feasibility and economic assessment of chromocolonoscopy for detection of proximal serrated neoplasia within a population-based colorectal cancer screening programme (CONSCOP): an open-label, randomised controlled non-inferiority trial.

C. Hurt, Geraint T. Williams, J. Sampson, 2019, The lancet. Gastroenterology & hepatology.

Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database

P. Møller, E. Hovig, S. Nakken, 2017, Gut.

Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care

P. Bolton, R. Appleton, F. Elmslie, 2019, Front. Neurol..

Adenoma development in familial adenomatous polyposis and MUTYH‐associated polyposis: somatic landscape and driver genes

A. Rust, Ville Mustonen, A. Fischer, 2015, The Journal of pathology.

Guidelines for the clinical management of Lynch

P. Møller, G. Capellá, J. Mecklin, 2007 .

Germline MBD4 deficiency causes a multi-tumor predisposition syndrome

M. Christie, D. Wedge, N. López-Bigas, 2022, American journal of human genetics.

Gastrointestinal polyposis syndromes for the general gastroenterologist

J. Sampson, S. Dolwani, J. Hurley, 2013, Frontline Gastroenterology.

Small-molecule signal-transduction inhibitors: targeted therapeutic agents for single-gene disorders

J. Sampson, D. M. Davies, 2009, Journal of Medical Genetics.

Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database

B. Bonanni, P. Møller, E. Hovig, 2020, Journal of clinical medicine.

The complexities of predictive genetic testing

J. Sampson, 2001 .

BRCA1 and BRCA2 in breast cancer families from Wales: moderate mutation frequency and two recurrent mutations in BRCA1.

J. Lancaster, C. Gumbs, P. A. Futreal, 1998, British Journal of Cancer.

MutYH (MYH) and colorectal cancer.

Siân Jones, J. Cheadle, J. Sampson, 2005, Biochemical Society transactions.

Response to Tolva et al.

P. Møller, J. Sampson, T. Seppälä, 2019, Genetics in Medicine.

An exploratory comparison of genetic counselling protocols for HNPCC predictive testing

J. Sampson, K. Brain, J. Gray, 2005, Clinical genetics.

Corrigendum: Clinical studies of multiple endocrine neoplasia type 1 (MEN1) (Q J Med (1996) 89 (653-659))

C. Edwards, R. Thakker, J. Sampson, 1996 .

Inherited defects in the DNA glycosylase MYH cause multiple colorectal adenoma and carcinoma.

J. Cheadle, J. Sampson, S. Dolwani, 2003, Carcinogenesis.

Induction of renal tumorigenesis with elevated levels of somatic loss of heterozygosity in Tsc1+/- mice on a Blm-deficient background.

J. Maynard, J. Cheadle, J. Sampson, 2005, Cancer research.

Characterization of GATA3 Mutations in the Hypoparathyroidism, Deafness, and Renal Dysplasia (HDR) Syndrome*

B. Harding, R. McWilliams, A. Nesbit, 2002, Journal of Biological Chemistry.

Loss of tuberous sclerosis complex 2 sensitizes tumors to nelfinavir−bortezomib therapy to intensify endoplasmic reticulum stress-induced cell death

T. Hay, R. Errington, A. Tee, 2018, Oncogene.

T2 weighted MRI for assessing renal lesions in transgenic mouse models of tuberous sclerosis.

J. Sampson, M. Shen, P. Tokarczuk, 2012, European journal of radiology.

Molecular Genetics of MUTYH‐Associated Polyposis

J. Sampson, S. Aretz, M. Nielsen, 2013 .

Evidence for accelerated colorectal adenoma–carcinoma progression in MUTYH-associated polyposis?

J. Sampson, H. Vasen, S. Aretz, 2011, Gut.

Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis.

J. Sampson, H. Vasen, S. Aretz, 2009, Gastroenterology.

Tuberous Sclerosis Complex

E. Thiele, E. Henske, S. Jóźwiak, 2019, Harper's Textbook of Pediatric Dermatology.

Rapid recognition of aberrant dHPLC elution profiles using the Transgenomic NavigatorTM software

Siân Jones, J. Maynard, J. Cheadle, 2005, Human mutation.

Sacrococcygeal chordomas in patients with tuberous sclerosis complex show somatic loss of TSC1 or TSC2

A. Stemmer-Rachamimov, J. Sampson, V. Ramesh, 2004, Genes, chromosomes & cancer.

Alternative splicing of the tuberous sclerosis 2 (TSC2) gene in human and mouse tissues.

J. Haines, M. Nellist, J. Sampson, 1995, Genomics.

Review of the Tuberous Sclerosis Renal Guidelines from the 2012 Consensus Conference: Current Data and Future Study

F. Elmslie, K. Budde, L. Guay-Woodford, 2016, Nephron.

Review of the Tuberous Sclerosis Renal Guidelines from the 2012 Consensus Conference: Current Data and Future Study.

F. Elmslie, K. Budde, L. Guay-Woodford, 2016, Nephron.

Phenotypes associated with inherited and developmental somatic mutations in genes encoding mTOR pathway components.

J. Sampson, A. Saxena, Anurag Saxena, 2014, Seminars in cell & developmental biology.

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

J. Tolmie, A. Clarke, R. Newbury-Ecob, 2006, Journal of Medical Genetics.

NTNG1 mutations are a rare cause of Rett syndrome

A. Clarke, D. Pilz, J. Christodoulou, 2006, American journal of medical genetics. Part A.

Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells

M. Stratton, P. Campbell, I. Martincorena, 2021, Nature Communications.

Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

Aung Ko Win, M. von Knebel Doeberitz, B. Bonanni, 2021, European journal of cancer.

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

Aung Ko Win, P. Møller, E. Hovig, 2019, Genetics in Medicine.

Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report

Aung Ko Win, M. von Knebel Doeberitz, B. Bonanni, 2020, Genetics in Medicine.

Letter to the Editor-Recent advances in Lynch syndrome

P. Møller, J. Mecklin, J. Burn, 2020, Familial Cancer.

Prospective observational data informs understanding and future management of Lynch syndrome: insights from the Prospective Lynch Syndrome Database (PLSD)

P. Møller, J. Sampson, T. Seppälä, 2020, Familial Cancer.

Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report

M. Kloor, P. Møller, E. Hovig, 2019, Hereditary Cancer in Clinical Practice.

Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report

P. Møller, E. Hovig, S. Nakken, 2017, Hereditary cancer in clinical practice.

Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database

P. Møller, E. Hovig, S. Nakken, 2016, Gut.

Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report

P. Møller, E. Hovig, S. Nakken, 2017, Hereditary Cancer in Clinical Practice.

Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds

P. Møller, G. Evans, H. Järvinen, 2009, Journal of Medical Genetics.

Are women with pathogenic variants in PMS2 and MSH6 really at high lifetime risk of breast cancer?

P. Møller, D. Evans, G. Capellá, 2018, Genetics in Medicine.

European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender

M. Kloor, P. Møller, Ionut Negoi, 2021, The British journal of surgery.

Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

Aung Ko Win, P. Møller, E. Hovig, 2020, Genetics in Medicine.

Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

Aung Ko Win, M. Kloor, B. Bonanni, 2022, Hereditary Cancer in Clinical Practice.

Analysis in the Prospective Lynch Syndrome Database identifies sarcoma as part of the Lynch syndrome tumor spectrum

P. Møller, J. Sampson, T. Seppälä, 2020, International journal of cancer.

The molecular genetics of tuberous sclerosis.

P. Harris, J. Sampson, 1994, Human molecular genetics.

Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance

P. Møller, E. Hovig, S. Nakken, 2018 .

Duodenal adenomas and cancer in MUTYH-associated polyposis: an international cohort study.

M. Mort, G. Capellá, E. Dekker, 2020, Gastroenterology.

Burden and Profile of Somatic Mutation in Duodenal Adenomas from Patients with Familial Adenomatous- and MUTYH-associated Polyposis

M. Mort, Geraint T. Williams, M. Moorghen, 2017, Clinical Cancer Research.

Analysis of inherited MYH/(MutYH) mutations in British Asian patients with colorectal cancer

G. Williams, J. Cheadle, J. Sampson, 2007, Gut.

Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3.

L. Aaltonen, W. Bodmer, A. de la Chapelle, 1998, Journal of medical genetics.

Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study

J. Lupski, S. Ellard, C. Stratakis, 2016, Acta neuropathologica communications.

Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study

J. Lupski, S. Ellard, C. Stratakis, 2016, Acta Neuropathologica Communications.

Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer

P. Møller, E. Hovig, S. Nakken, 2022 .

Inherited variants in MYH are unlikely to contribute to the risk of lung carcinoma

T. Eisen, R. Houlston, J. Maynard, 2003, Human Genetics.

Spectrum of mutations in the renin–angiotensin system genes in autosomal recessive renal tubular dysgenesis

R. Deberardinis, H. Firth, J. Tolmie, 2012, Human mutation.

Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts

P. Møller, G. Capellá, A. Lindblom, 2013, Gut.

Lymphangioleiomyomatosis and tuberous sclerosis.

J. Osborne, J. Sampson, S. Tomkins, 2002, Respiratory medicine.

THE POLYCYSTIC KIDNEY-DISEASE-1 GENE ENCODES A 14-KB TRANSCRIPT AND LIES WITHIN A DUPLICATED REGION ON CHROMOSOME-16

Siep Thomas, S. Verhoef, J. Hughes, 1994 .

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

W. Reardon, D. Cooper, Y. Crow, 2005, Journal of Medical Genetics.

Different combinations of biallelic APC mutation confer different growth advantages in colorectal tumours.

M. Krawczak, A. Hodges, J. Cheadle, 2002, Cancer research.

Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)

W. Reik, S. Bowdin, J. Sampson, 2003, Journal of medical genetics.

Guidelines for the clinical management of familial adenomatous polyposis (FAP)

P. Møller, G. Capellá, S. Tejpar, 2008, Gut.

adenomatous polyposis (FAP) Guidelines for the clinical management of familial

G. Capellá, S. Tejpar, H. Järvinen, 2008 .

Genetic aspects of tuberous sclerosis in the west of Scotland.

J B Stephenson, J. Sampson, J. Stephenson, 1989, Journal of medical genetics.

Peutz–Jeghers syndrome: a systematic review and recommendations for management

P. Møller, G. Capellá, S. Tejpar, 2010, Gut.

Gorlin syndrome: Identification of 4 novel germ‐line mutations of the human patched (PTCH) gene

V. Bataille, J. Sampson, A. Frischauf, 1998, Human mutation.

Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products.

R. Snell, A. V. D. van den Ouweland, P. Sluijs, 1998, Human molecular genetics.

Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.

H. Weiner, E. Thiele, J. Wheless, 2021, Pediatric neurology.

The UK guidelines for management and surveillance of Tuberous Sclerosis Complex

P. Bolton, F. Elmslie, D. Gale, 2018, QJM : monthly journal of the Association of Physicians.

Characterization of mutations in patients with multiple endocrine neoplasia type 1.

S. Forbes, B. Harding, C. Edwards, 1998, American journal of human genetics.

Clinical studies of multiple endocrine neoplasia type 1 (MEN1)

C. Edwards, R. Thakker, J. Sampson, 1996, QJM : monthly journal of the Association of Physicians.

G3BPs tether the TSC complex to lysosomes and suppress mTORC1 signaling

A. Teleman, V. Korolchuk, A. von Deimling, 2021, Cell.

Multiple rare nonsynonymous variants in the adenomatous polyposis coli gene predispose to colorectal adenomas.

Anthony R. Dallosso, Kristilyn Eliason, Brant C Hendrickson, 2008, Cancer research.

Identification and characterization of the tuberous sclerosis gene on chromosome 16

S. Thomas, S. Verhoef, B. Janssen, 1993, Cell.

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 .

Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease — a contiguous gene syndrome

J. Hughes, P. Harris, C. Ward, 1994, Nature Genetics.

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

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

Correlation between clinical severity in patients with Rett syndrome with a p . R 168 X or p . T 158 M MECP 2 mutation , and the direction and degree of skewing of X-chromosome inactivation

T. Charman, A. Clarke, J. Christodoulou, 2007 .

Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation

T. Charman, A. Clarke, J. Christodoulou, 2006, Journal of Medical Genetics.

The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management

P. Bolton, A. Humphrey, J. Sampson, 2011, Archives of Disease in Childhood.

The “unnatural” history of colorectal cancer in Lynch syndrome: Lessons from colonoscopy surveillance

M. Kloor, M. von Knebel Doeberitz, H. Brenner, 2020, International journal of cancer.

The role of inherited genetic variants in colorectal polyposis syndromes.

J. Sampson, E. Short, 2019, Advances in genetics.

Increased frequency of the k-ras G12C mutation in MYH polyposis colorectal adenomas

G. Williams, J. Cheadle, J. Sampson, 2004, British Journal of Cancer.

Combination of Everolimus with Sorafenib for Solid Renal Tumors in Tsc2+/− Mice Is Superior to Everolimus Alone1

J. Sampson, M. Shen, J. Gallacher, 2017, Neoplasia.

mTORC1 drives HIF-1α and VEGF-A signalling via multiple mechanisms involving 4E-BP1, S6K1 and STAT3

A. Tee, J. Sampson, M. Shen, 2014, Oncogene.

European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender

M. Kloor, M. von Knebel Doeberitz, P. Møller, 2020, The British journal of surgery.

Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.

C. Engel, P. Propping, J. Sampson, 2009, Gastroenterology.

Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors

Alison L. Livingston, Geraint T. Williams, A. Hodges, 2002, Nature Genetics.

Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial

D. Bishop, R. Scott, D. Evans, 2020, The Lancet.

The impact of chromoendoscopy for surveillance of the duodenum in patients with MUTYH-associated polyposis and familial adenomatous polyposis.

M. Mort, Geraint T. Williams, N. Suzuki, 2018, Gastrointestinal endoscopy.

Molecular genetic advances in tuberous sclerosis

D. Kwiatkowski, J. Cheadle, J. Sampson, 2000, Human Genetics.

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

H. Mefford, R. Møller, M. Shinawi, 2020, Genetics in Medicine.

Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3

V. Moskvina, R. Houlston, D. Evans, 2008, Gut.

Exposing the MYtH about base excision repair and human inherited disease.

J. Cheadle, J. Sampson, 2003, Human molecular genetics.

Bmc Medical Genetics Identification of a Region Required for Tsc1 Stability by Functional Analysis of Tsc1 Missense Mutations Found in Individuals with Tuberous Sclerosis Complex

R. Ekong, S. Povey, A. V. D. van den Ouweland, 2022 .

Evidence for pericyte origin of TSC-associated renal angiomyolipomas and implications for angiotensin receptor inhibition therapy.

Z. Tsuchihashi, B. Siroky, Hong Yin, 2014, American journal of physiology. Renal physiology.

Identification of a leader exon and a core promoter for the rat tuberous sclerosis 2 (Tsc2) gene and structural comparison with the human homolog

P. Harris, O. Hino, J. Cheadle, 1997, Mammalian Genome.

Von Hippel-Lindau disease: a genetic study.

N. Morton, M. Ferguson-Smith, J. Sampson, 1991, Journal of medical genetics.

A comparison of methods currently used in clinical practice to estimate familial breast cancer risks.

J. Sampson, C. Chapman, M. Tischkowitz, 2000, Annals of oncology : official journal of the European Society for Medical Oncology.

No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study

Aung Ko Win, M. von Knebel Doeberitz, B. Bonanni, 2021, Journal of clinical medicine.

A Comparative Study on Genetic Heterogeneity in Tuberous Sclerosis: Evidence for One Gene on 9q34 and a Second Gene on 11q22–23 a

J. Haines, J. Attwood, S. Povey, 1991, Annals of the New York Academy of Sciences.

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

M. Brudno, J. Tolmie, D. Sharon, 2015, Nature Communications.

The role of mTOR signalling in neurogenesis, insights from tuberous sclerosis complex.

A. Tee, J. Sampson, J. Bateman, 2016, Seminars in cell & developmental biology.

Tsc1 haploinsufficiency without mammalian target of rapamycin activation is sufficient for renal cyst formation in Tsc1+/- mice.

J. Maynard, J. Cheadle, J. Sampson, 2006, Cancer research.

A mouse model of tuberous sclerosis 1 showing background specific early post-natal mortality and metastatic renal cell carcinoma.

D. Griffiths, J. Cheadle, J. Sampson, 2005, Human molecular genetics.

Chromosomal instability in MYH- and APC-mutant adenomatous polyps.

H. Morreau, R. Fodde, J. Boer, 2006, Cancer research.

Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer.

L. Aaltonen, I. Tomlinson, T. Mäkelä, 1999, Human molecular genetics.

Trisomy 14pter → q21: A case with associated ovarian germ cell tumor and review of the literature

J. Sampson, L. Lee-Jones, E. Little, 2004 .

Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome.

D. Schlessinger, J. Clayton-Smith, J. Hurst, 1997, Journal of medical genetics.

Extensive telomere erosion in the initiation of colorectal adenomas and its association with chromosomal instability.

Geraint T. Williams, J. Sampson, D. Baird, 2013, Journal of the National Cancer Institute.

Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations.

Siân Jones, Geraint T. Williams, J. Maynard, 2002, Human molecular genetics.

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

D. Cooper, M. Krawczak, A. Clarke, 2000, Human molecular genetics.

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.

K. Bae, S. Özen, A. Chapman, 2008, Kidney international.

Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene.

E. Haan, P. Harris, D. Ravine, 1997, American journal of human genetics.

Allosteric and ATP-Competitive Inhibitors of mTOR Effectively Suppress Tumor Progression-Associated Epithelial-Mesenchymal Transition in the Kidneys of Tsc2+/− Mice

E. Henske, J. Sampson, M. Shen, 2019, Neoplasia.

Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins

C. Howe, J. Sampson, P. D. de Vries, 2015, Journal of Medical Genetics.

Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin.

A. Hodges, J. Declue, J. Maynard, 2001, Human molecular genetics.

Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer)

P. Møller, G. Capellá, J. Mecklin, 2007, Journal of Medical Genetics.

P. Harris, J. Cheadle, A. C. Jones, 1997, Human molecular genetics.

Renal tumours in a Tsc2+/− mouse model do not show feedback inhibition of Akt and are effectively prevented by rapamycin

D. Griffiths, J. Sampson, M. Shen, 2014, Oncogene.

Tuberous sclerosis complex tumor suppressor–mediated S6 kinase inhibition by phosphatidylinositide-3-OH kinase is mTOR independent

A. Hodges, A. Jaeschke, G. Thomas, 2002, The Journal of cell biology.

Somatic GPR101 Duplication Causing X-Linked Acrogigantism (XLAG)—Diagnosis and Management

S. Ellard, M. Korbonits, S. Albrecht, 2016, The Journal of clinical endocrinology and metabolism.

Linkage analysis of 7 polymorphic markers at chromosome 11p11. 2‐11q13 in 27 multiple endocrine neoplasia type 1 families

P. Woollard, R. Norum, B. Harding, 1993, Annals of human genetics.

A novel splice site associated polymorphism in the tuberous sclerosis 2 (TSC2) gene may predispose to the development of sporadic gangliogliomas.

M. Nöthen, D. Louis, I. Blümcke, 1997, Journal of neuropathology and experimental neurology.

Recommendations to improve identification of hereditary and familial colorectal cancer in Europe

P. Møller, G. Capellá, A. Lindblom, 2010, Familial Cancer.

Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study.

Katherine M. Tucker, Aung Ko Win, Swati G. Patel, 2021, The Lancet. Oncology.

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

Aung Ko Win, P. Møller, E. Hovig, 2019, Genetics in Medicine.

Multifocal renal cell carcinoma in sibs from a chromosome 9 linked (TSC1) tuberous sclerosis family.

J. Sampson, A. Patel, A. Mee, 1995, Journal of medical genetics.

Analysis of the TSC1and TSC2genes in sporadic renal cell carcinomas

J. Maynard, J. Cheadle, J. Sampson, 2001, British Journal of Cancer.

The use of everolimus in the treatment of neurocognitive problems in tuberous sclerosis (TRON): study protocol for a randomised controlled trial

C. Drew, R. McNamara, E. Randell, 2016, Trials.

Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2

D. Kwiatkowski, S. Segal, J. Bissler, 2015, European Journal of Human Genetics.

Sirolimus therapy in tuberous sclerosis or sporadic lymphangioleiomyomatosis.

F. Elmslie, J. Sampson, A. Tattersfield, 2008, The New England journal of medicine.

Recent Linkage Studies in Tuberous Sclerosis

J. Sampson, J. M. Connor, 1991 .

Inherited predisposition to colorectal cancer: towards a more complete picture

L. Thomas, J. Sampson, J. Hurley, 2015, Journal of Medical Genetics.

, patients in both classical and atypical Rett syndrome gene are foundMECP 2 Gross rearrangements

W. Reardon, D. Cooper, Y. Crow, 2006 .

, in both classical and atypical Rett Syndrome Gross rearrangements of the MECP 2 gene are found

W. Reardon, D. Cooper, Y. Crow, 2005 .

Evidence for genetic heterogeneity in tuberous sclerosis.

P. Beighton, J. Sampson, J. Yates, 1989, Journal of medical genetics.

The economic burden of tuberous sclerosis complex in the UK: A retrospective cohort study in the Clinical Practice Research Datalink

J. Sampson, P. Crawford, C. Shepherd, 2016, Journal of medical economics.

Genomic organization and comparative analysis of the mouse tuberous sclerosis 1 (Tsc1) locus

Janet M. Young, A. Hodges, J. Cheadle, 2000, Mammalian Genome.

Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish.

R. Sandford, M. Vaudin, M. Nellist, 1996, Human Molecular Genetics.

Detailed mapping of germline deletions of the von Hippel-Lindau disease tumour suppressor gene.

M. Lerman, B. Zbar, M. Phipps, 1994, Human molecular genetics.

Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q.

I Tomlinson, J. Gilbert, O. Sieber, 2000, Human molecular genetics.

Low level mosaicism detectable by DHPLC but not by direct sequencing

J. Cheadle, A. C. Jones, J. Sampson, 2001, Human mutation.

Survival of MUTYH-Associated Polyposis Patients With Colorectal Cancer and Matched Control Colorectal Cancer Patients

O. Dekkers, H. Morreau, M. Janssen-Heijnen, 2010, Journal of the National Cancer Institute.

Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report

M. Kloor, P. Møller, E. Hovig, 2019, Hereditary Cancer in Clinical Practice.

MUTYH-associated polyposis.

J. Sampson, N. Jones, N. Jones, 2009, Best practice & research. Clinical gastroenterology.

Comprehensive analysis of the contribution of germline MYH variation to early‐onset colorectal cancer

J. Peto, R. Houlston, J. Cheadle, 2004, International journal of cancer.

Functional characterization of two human MutY homolog (hMYH) missense mutations (R227W and V232F) that lie within the putative hMSH6 binding domain and are associated with hMYH polyposis

Siân Jones, J. Cheadle, J. Sampson, 2005, Nucleic acids research.

People of the British Isles: preliminary analysis of genotypes and surnames in a UK-control population

P. Donnelly, D. Davison, T. Frayling, 2011, European Journal of Human Genetics.

Genetic counselling protocols for hereditary non‐polyposis colorectal cancer: a survey of UK regional genetics centres

J. Sampson, K. Brain, J. Gray, 2003, Clinical genetics.

Randomized trial of a specialist genetic assessment service for familial breast cancer.

R. Mansel, A. Clarke, P. Norman, 2000, Journal of the National Cancer Institute.

Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report

M. Kloor, P. Møller, E. Hovig, 2019, Hereditary cancer in clinical practice.

Refined localization of TSC1 by combined analysis of 9q34 and 16pl3 data in 14 tuberous sclerosis families

S. Verhoef, L. Sandkuijl, B. Janssen, 1994, Human Genetics.

Genetic Heterogeneity in Tuberous Sclerosis. Study of a Large Collaborative Dataset a

J. Haines, M. Pericak-Vance, J. Attwood, 1991, Annals of the New York Academy of Sciences.

Genetic heterogeneity in tuberous sclerosis.

R. Hennekam, L. Sandkuyl, D. Lindhout, 1990, Genomics.

Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis

J. Cheadle, J. Sampson, Alistair C. Jones, 2000, Human Genetics.

A feasibility study testing four hypotheses with phase II outcomes in advanced colorectal cancer (MRC FOCUS3): a model for randomised controlled trials in the era of personalised medicine?

M. Parmar, G. Taylor, R. Butler, 2014, British Journal of Cancer.

Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database

Aung Ko Win, M. von Knebel Doeberitz, B. Bonanni, 2023, EClinicalMedicine.

Secular changes in severity of intellectual disability in tuberous sclerosis complex: A reflection of improved identification and treatment of epileptic spasms?

P. Bolton, L. Thomas, J. Sampson, 2018, Epilepsia open.

The dual PI3K/mTOR inhibitor GSK2126458 is effective for treating solid renal tumours in Tsc2+/- mice through suppression of cell proliferation and induction of apoptosis

J. Sampson, M. Shen, P. Samsel, 2017, Oncotarget.

The dual PI 3 K / mTOR inhibitor GSK 2126458 is effective for treating solid renal tumours in Tsc 2 + /-mice through suppression of cell proliferation and induction of apoptosis

J. Sampson, M. Shen, P. Samsel, 2017 .

TSC1 and TSC2: genes that are mutated in the human genetic disorder tuberous sclerosis.

J. Sampson, 2003, Biochemical Society transactions.

Familial Colorectal Cancer

J. Sampson, S. Dolwani, 2005 .

Ethical approval for research involving geographically dispersed subjects: unsuitability of the UK MREC/LREC system and relevance to uncommon genetic disorders

J. Sampson, S. Tomkins, Julia C Lewis, 2001, Journal of medical ethics.

Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

H. Mefford, W. Chung, R. Møller, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

APC transcription studies and molecular diagnosis of familial adenomatous polyposis

M. Mort, J. Maynard, L. Thomas, 2020, European Journal of Human Genetics.

APC transcription studies and molecular diagnosis of familial adenomatous polyposis

M. Mort, J. Maynard, L. Thomas, 2019, European Journal of Human Genetics.

A clinical and genetic database for management of familial adenomatous polyposis.

J. Sampson, I. Fenton, 1992, Journal of medical genetics.

Genetic Testing Considerations in Breast Cancer Patients

G. Elwyn, A. Clarke, P. Harper, 1999, Journal of Genetic Counseling.

Aalborg Universitet Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by overdiagnosis ; A prospective Lynch syndrome database report

M. Kloor, P. Møller, E. Hovig, 2019 .

Endoplasmic reticulum stress and cell death in mTORC1‐overactive cells is induced by nelfinavir and enhanced by chloroquine

R. Errington, A. Tee, J. Sampson, 2015, Molecular oncology.

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

R. Hennekam, D. Lev, M. Vikkula, 2012, Molecular Syndromology.

Temperature modulation of DHPLC analysis for detection of coexisting constitutional and mosaic sequence variants in TSC2.

E. Antonarakis, J. Cheadle, J. Sampson, 2002, Journal of Biochemical and Biophysical Methods.

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.

Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair

A. Campbell, J. Sampson, Lynn Martin, 2023, Nature communications.

Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal

L. Thomas, M. Nellist, J. Sampson, 2023, Human Mutation.

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature

K. Lachlan, M. Parker, S. Sharif, 2019, American journal of medical genetics. Part A.

Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)

W. Reik, S. Bowdin, J. Sampson, 2003, Journal of medical genetics.

A model protocol evaluating the introduction of genetic assessment for women with a family history of breast cancer

A. Clarke, G. Barton, J. Sampson, 2000, Journal of medical genetics.

The clinical profile of tuberous sclerosis complex (TSC) in the United Kingdom: A retrospective cohort study in the Clinical Practice Research Datalink (CPRD).

P. Bolton, J. Sampson, C. Kingswood, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Pitted enamel hypoplasia in tuberous sclerosis

J. Sampson, D. Attwood, J. Reid, 1992, Clinical genetics.