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J. Sampson · SciRah

Researcher profile · Semantic Scholar

J. Sampson

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J. Sampson — researcher profile on SciRah

h-index: 65
Works: 191
Citations: 22K

Most-cited papers

Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts
H. Vasen, I. Blanco, K. Aktán-Collán, J. P. Gopie +32 more
2013Gut737 citations Open access
Semantic Scholar
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.
H. Northrup, Mary E. Aronow, E. Bebin, John J. Bissler +22 more
2021Pediatric Neurology622 citations Open access
Semantic Scholar
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
M. Dominguez-Valentin, J. Sampson, T. Seppälä, S. T. ten Broeke +84 more
2019Genetics in Medicine585 citations Open access
Semantic Scholar
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, T. Seppälä, I. Bernstein, E. Holinski-Feder +35 more
2017Gut548 citations Open access
Semantic Scholar
Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database
P. Møller, T. Seppälä, I. Bernstein, E. Holinski-Feder +32 more
2015Gut518 citations Open access
Semantic Scholar
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
J. Burn, H. Sheth, F. Elliott, Linda Reed +30 more
2020The Lancet331 citations Open access
Semantic Scholar
mTORC1 drives HIF-1  and VEGF-A signalling via multiple mechanisms involving 4E-BP1, S6K1 and STAT3
K. Dodd, Jian Yang, Ming-He Shen, J. Sampson +1 more
2018306 citations
Semantic Scholar
European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender
T. Seppälä, A. Latchford, Ionut Negoi, A. S. Soares +14 more
2020British Journal of Surgery235 citations Open access
Semantic Scholar
Tuberous sclerosis complex
E. Henske, S. Jozwiak, J. Kingswood, J. Sampson +1 more
2016Nature Reviews Disease Primers160 citations
Semantic Scholar
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, T. Seppälä, I. Bernstein, E. Holinski-Feder +34 more
2016Gut149 citations Open access
Semantic Scholar
G3BPs tether the TSC complex to lysosomes and suppress mTORC1 signaling
M. T. Prentzell, U. Rehbein, Marti Cadena Sandoval, A. De Meulemeester +43 more
2021Cell131 citations Open access
Semantic Scholar
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
M. Dominguez-Valentin, Saskia Haupt, T. Seppälä, J. Sampson +112 more
2023EClinicalMedicine110 citations Open access
Semantic Scholar
People of the British Isles: preliminary analysis of genotypes and surnames in a UK-control population
B. Winney, Abdelhamid Boumertit, Tammy Day, D. Davison +27 more
2011European Journal of Human Genetics109 citations Open access
Semantic Scholar
Spectrum of mutations in the renin–angiotensin system genes in autosomal recessive renal tubular dysgenesis
O. Gribouval, V. Moriniére, Audrey Pawtowski, Christelle Arrondel +51 more
2012Human Mutation106 citations Open access
Semantic Scholar
Extensive telomere erosion in the initiation of colorectal adenomas and its association with chromosomal instability.
L. Roger, Rhiannon E. Jones, Nicole H. Heppel, Geraint T. Williams +2 more
2013Journal of the National Cancer Institute102 citations Open access
Semantic Scholar
The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management
J. Yates, C. Maclean, J. N. Higgins, Ayla Humphrey +5 more
2011Archives of Disease in Childhood97 citations
Semantic Scholar
Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness
S. Kmoch, J. Majewski, V. Ramamurthy, S. Cao +33 more
2015Nature Communications92 citations Open access
Semantic Scholar
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex
M. Hoogeveen-Westerveld, M. Wentink, D. van den Heuvel, Melika Mozaffari +19 more
2011Human Mutation91 citations Open access
Semantic Scholar
The “unnatural” history of colorectal cancer in Lynch syndrome: Lessons from colonoscopy surveillance
A. Ahadova, T. Seppälä, C. Engel, R. Gallon +22 more
2020International Journal of Cancer86 citations Open access
Semantic Scholar
The clinical profile of tuberous sclerosis complex (TSC) in the United Kingdom: A retrospective cohort study in the Clinical Practice Research Datalink (CPRD).
C. Kingswood, P. Bolton, P. Crawford, C. Harland +10 more
2016European journal of paediatric neurology77 citations Open access
Semantic Scholar
The role of mTOR signalling in neurogenesis, insights from tuberous sclerosis complex
Andrew R. Tee, J. Sampson, Deb K. Pal, J. Bateman
2016Seminars in Cell and Developmental Biology75 citations Open access
Semantic Scholar
Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study
D. Iacovazzo, R. Caswell, B. Bunce, Sian Jose +31 more
2016Acta Neuropathologica Communications72 citations Open access
Semantic Scholar
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome
C. Palles, Hannah D. West, E. Chew, Sara Galavotti +65 more
2022American Journal of Human Genetics65 citations Open access
Semantic Scholar
Variation in the Risk of Colorectal Cancer for Lynch Syndrome: A retrospective family cohort study
Aung Ko Win, J. Dowty, J. Reece, Grant Lee +208 more
2021The Lancet Oncology64 citations Open access
Semantic Scholar
Epilepsy in Tuberous Sclerosis: Phenotypes, Mechanisms, and Treatments
Anurag Saxena, J. Sampson
2015Seminars in neurology62 citations Open access
Semantic Scholar
Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report
T. Seppälä, K. Pylvänäinen, D. G. Evans, H. Järvinen +35 more
2017Hereditary Cancer in Clinical Practice58 citations Open access
Semantic Scholar
Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations
M. Alders, A. Mendola, L. Adès, L. Al-Gazali +20 more
2012Molecular Syndromology58 citations Open access
Semantic Scholar
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
T. Seppälä, A. Ahadova, M. Dominguez-Valentin, Finlay A. Macrae +53 more
2019Hereditary Cancer in Clinical Practice56 citations Open access
Semantic Scholar
Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells
Philip S. Robinson, L. Thomas, F. Abascal, Hyunchul Jung +22 more
2021Nature Communications55 citations Open access
Semantic Scholar
Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study
D. Iacovazzo, R. Caswell, B. Bunce, Sian Jose +31 more
2016Acta Neuropathologica Communications54 citations Open access
Semantic Scholar
Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium
P. Møller, T. Seppälä, J. Dowty, Saskia Haupt +153 more
2022Hereditary Cancer in Clinical Practice53 citations Open access
Semantic Scholar
Somatic GPR101 Duplication Causing X-Linked Acrogigantism (XLAG)—Diagnosis and Management
C. Rodd, M. Millette, D. Iacovazzo, C. E. Stiles +11 more
2016Journal of Clinical Endocrinology and Metabolism51 citations Open access
Semantic Scholar
Adenoma development in familial adenomatous polyposis and MUTYH‐associated polyposis: somatic landscape and driver genes
Mamunur Rashid, Andrej Fischer, Catherine H. Wilson, Jessamy Tiffen +8 more
2015Journal of Pathology49 citations Open access
Semantic Scholar
Evidence for pericyte origin of TSC-associated renal angiomyolipomas and implications for angiotensin receptor inhibition therapy.
Brian J. Siroky, H. Yin, B. Dixon, Ryan J. Reichert +8 more
2014AJP - Renal Physiology49 citations Open access
Semantic Scholar
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report
M. Dominguez-Valentin, E. Crosbie, C. Engel, S. Aretz +84 more
2020Genetics in Medicine41 citations Open access
Semantic Scholar
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
M. Dominguez-Valentin, J. Sampson, T. Seppälä, S. T. ten Broeke +84 more
2019Genetics in Medicine38 citations Open access
Semantic Scholar
Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2
D. Kwiatkowski, Michael R. Palmer, S. Jóźwiak, J. Bissler +4 more
2015European Journal of Human Genetics38 citations Open access
Semantic Scholar
Supplementary Material for: Review of the Tuberous Sclerosis Renal Guidelines from the 2012 Consensus Conference: Current Data and Future Study
J. Kingswood, J. Bissler, K. Budde, J. Hulbert +8 more
201636 citations
Semantic Scholar
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
Chiara Klöckner, H. Sticht, P. Zacher, B. Popp +54 more
2020Genetics in Medicine35 citations Open access
Semantic Scholar
Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report
M. Dominguez-Valentin, T. Seppälä, J. Sampson, Finlay A. Macrae +39 more
2019Hereditary Cancer in Clinical Practice34 citations Open access
Semantic Scholar
Duodenal adenomas and cancer in MUTYH-associated polyposis: an international cohort study.
L. Thomas, J. J. Hurley, Á. Sánchez, M. R. Aznárez +32 more
2020Gastroenterology27 citations Open access
Semantic Scholar
Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report
T. Seppälä, M. Dominguez-Valentin, E. Crosbie, C. Engel +82 more
2021European Journal of Cancer26 citations Open access
Semantic Scholar
The economic burden of tuberous sclerosis complex in the UK: A retrospective cohort study in the Clinical Practice Research Datalink
J. Kingswood, P. Crawford, S. Johnson, J. Sampson +9 more
2016Journal of Medical Economics26 citations Open access
Semantic Scholar
Renal tumours in a Tsc1+/- mouse model show epigenetic suppression of organic cation transporters Slc22a1, Slc22a2 and Slc22a3, and do not respond to metformin.
Jian Yang, M. Kalogerou, J. Gallacher, J. Sampson +1 more
2013European Journal of Cancer25 citations
Semantic Scholar
The impact of chromoendoscopy for surveillance of the duodenum in patients with MUTYH-associated polyposis and familial adenomatous polyposis.
J. Hurley, L. Thomas, S. Walton, S. Thomas-Gibson +8 more
2018Gastrointestinal Endoscopy24 citations Open access
Semantic Scholar
Prospective observational data informs understanding and future management of Lynch syndrome: insights from the Prospective Lynch Syndrome Database (PLSD)
T. Seppälä, M. Dominguez-Valentin, J. Sampson, P. Møller
2020Familial Cancer23 citations Open access
Semantic Scholar
Inherited predisposition to colorectal cancer: towards a more complete picture
E. Short, L. Thomas, J. Hurley, Sian Jose +1 more
2015Journal of Medical Genetics23 citations Open access
Semantic Scholar
Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database
M. Dominguez-Valentin, T. Seppälä, C. Engel, S. Aretz +41 more
2020Journal of Clinical Medicine22 citations Open access
Semantic Scholar
Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature
R. Cleaver, J. Berg, E. Craft, A. Foster +9 more
2019American Journal of Medical Genetics. Part A22 citations Open access
Semantic Scholar
Analysis in the Prospective Lynch Syndrome Database identifies sarcoma as part of the Lynch syndrome tumor spectrum
M. Dominguez-Valentin, J. Sampson, P. Møller, T. Seppälä +84 more
2020International Journal of Cancer20 citations Open access
Semantic Scholar

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