logo
科言猫学术研究的AI总结
language
手机端手机端
  • Phone Feature微信小程序
简体中文简体中文
notice消息通知
博客博客
arrow
J

Julian R. Sampson

Cardiff University
H指数:73
被引数:2.7万

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

Reanalysis of genomic data doubles the diagnostic yield for Welsh patients recruited to the UK 100,000 Genomes Project

对威尔士参与英国100,000基因组计划患者的基因组数据重新分析，使诊断率翻倍

European Journal of Human Genetics
IF4.6
2026-09-280
OAAI
Jana Jezkova; Martin A. McClatchey; Sophie Shaw; Rhys Vaughan; Joseph Halstead; Iris Egner; Sharon D. Whatley; Arveen Kamath; Oliver Murch; Vinod Varghese; Rachel Irving; Jennifer F. Gardner; Ayesha Ahmed; Ian Tully; Vani Jain; Mark T. Rogers; Francis H. Sansbury; Angus J. Clarke; Caroline Pottinger; Maribel Verdesoto Rodriguez; Johann te Water Naudé; Aimee Bettridge; Alexandra C. Martin-Geary; Nils Wagner; Julien Gagneur; Marcela Votruba; David J. Bunyan; Kevin Ashelford; Peter Giles; Hywel J. Williams; Sian Morgan; Julian R. Sampson; Andrew E. Fry
Incidence Rates of Melanoma and Lung Cancer Are Generally Low in the Lynch Syndromes and Vary Across path_MMR Variants: A Prospective Lynch Syndrome Database Report

林奇综合征中黑色素瘤和肺癌的发病率通常较低，且在不同path_MMR变异中存在差异：一项前瞻性林奇综合征数据库报告

Cancers
IF4.4
2026-07-280
OA
John D. Potter; Finlay A. Macrae; Julian R. Sampson; Saskia Haupt; Toni T. Seppälä; Sinead Cameron-Mackintosh; Aysel Ahadova; Matthias Kloor; Pål Møller; PLSD Collaborators
Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision
BRITISH JOURNAL OF SURGERY
IF8.7
2024-05-093
OAAI
Zaffaroni, Gloria; Mannucci, Alessandro; Koskenvuo, Laura; de Lacy, Borja; Maffioli, Anna; Bisseling, Tanya; Half, Elizabeth; Cavestro, Giulia Martina; Valle, Laura; Ryan, Neil; Aretz, Stefan; Brown, Karen; Buttitta, Francesco; Carneiro, Fatima; Claber, Oonagh; Blanco-Colino, Ruth; Collard, Maxime; Crosbie, Emma; Cunha, Miguel; Doulias, Triantafyllos; Fleming, Christina; Heinrich, Henriette; Hueneburg, Robert; Metras, Julie; Nagtegaal, Iris; Negoi, Ionut; Nielsen, Maartje; Pellino, Gianluca; Ricciardiello, Luigi; Sagir, Abdurrahman; Sanchez-Guillen, Luis; Seppaelae, Toni T.; Siersema, Peter; Striebeck, Benedikt; Sampson, Julian R.; Latchford, Andrew; Parc, Yann; Burn, John; Moeslein, Gabriela
PIGA Mutations and Glycosylphosphatidylinositol Anchor Dysregulation in Polyposis-Associated Duodenal Tumorigenesis
MOLECULAR CANCER RESEARCH
IF4.7
2024-03-280
OAAI
Meuser, Elena; Chang, Kyle; Walters, Angharad; Hurley, Joanna J.; West, Hannah D.; Perry, Iain; Mort, Matthew; Reyes-Uribe, Laura; Truscott, Rebekah; Jones, Nicholas; Lawrence, Rachel; Jenkins, Gareth; Giles, Peter; Dolwani, Sunil; Al-Sarireh, Bilal; Hawkes, Neil; Short, Emma; Williams, Geraint T.; Taggart, Melissa W.; Luetchford, Kim; Lynch, Patrick M.; Terlouw, Diantha; Nielsen, Maartje; Walton, Sarah-Jane; Latchford, Andrew; Clark, Susan K.; Sampson, Julian R.; Vilar, Eduardo; Thomas, Laura E.
Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal Variants in Individuals for Whom Previous Genetic Testing for Tuberous Sclerosis Complex Was Normal
HUMAN MUTATION
IF3.7
2023-07-133
OAAI
West, Hannah D.; Nellist, Mark; Brouwer, Rutger W. W.; van den Hout-van Vroonhoven, Mirjam C. G. N.; de Almeida, Luiz Gustavo Dufner; Hendriks, Femke; Elfferich, Peter; Raja, Meera; Giles, Peter; Alfano, Rosa M.; Peron, Angela; Sznajer, Yves; De Waele, Liesbeth; Jansen, Anna; Koopmans, Marije; Kievit, Anneke; Farach, Laura S.; Northrup, Hope; Sampson, Julian R.; Thomas, Laura E.; van IJcken, Wilfred F. J.
Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair

由DNA修复缺陷引起的孟德尔癌症综合征家族中的种系从头突变

NATURE COMMUNICATIONS
IF15.7
2023-06-196
OAAI
Sherwood, Kitty; Ward, Joseph C.; Soriano, Ignacio; Martin, Lynn; Campbell, Archie; Rahbari, Raheleh; Kafetzopoulos, Ioannis; Sproul, Duncan; Green, Andrew; Sampson, Julian R.; Donaldson, Alan; Ong, Kai-Ren; Heinimann, Karl; Nielsen, Maartje; Thomas, Huw; Latchford, Andrew; Palles, Claire; Tomlinson, Ian
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

接受早期癌症诊断和治疗监测的致病性错配修复基因变异携带者的年龄，基因和性别死亡率: 前瞻性Lynch综合征数据库的报告

ECLINICALMEDICINE
IF10
2023-04-0130
OAAI
Dominguez-Valentin, Mev; Haupt, Saskia; Seppala, Toni T.; Sampson, Julian R.; Sunde, Lone; Bernstein, Inge; Jenkins, Mark A.; Engel, Christoph; Aretz, Stefan; Nielsen, Maartje; Capella, Gabriel; Balaguer, Francesc; Evans, Dafydd Gareth; Burn, John; Holinski-Feder, Elke; Bertario, Lucio; Bonanni, Bernardo; Lindblom, Annika; Levi, Zohar; Macrae, Finlay; Winship, Ingrid; Plazzer, John-Paul; Sijmons, Rolf; Laghi, Luigi; Della Valle, Adriana; Heinimann, Karl; Debniak, Tadeusz; Fruscio, Robert; Lopez-Koestner, Francisco; Alvarez-Valenzuela, Karin; Katz, Lor H.; Laish, Ido; Vainer, Elez; Vaccaro, Carlos; Carraro, Dirce Maria; Monahan, Kevin; Half, Elizabeth; Stakelum, Aine; Winter, Des; Kennelly, Rory; Gluck, Nathan; Sheth, Harsh; Abu-Freha, Naim; Greenblatt, Marc; Rossi, Benedito Mauro; Bohorquez, Mabel; Cavestro, Giulia Martina; Lino-Silva, Leonardo S.; Horisberger, Karoline; Tibiletti, Maria Grazia; do Nascimento, Ivana; Thomas, Huw; Rossi, Norma Teresa; da Silva, Leandro Apolinario; Zarand, Attila; Ruiz-Banobre, Juan; Heuveline, Vincent; Mecklin, Jukka-Pekka; Pylvaenaeinen, Kirsi; Renkonen-Sinisalo, Laura; Lepistoe, Anna; Peltomaeki, Paeivi; Therkildsen, Christina; Madsen, Mia Gebauer; Burgdorf, Stefan Kobbelgaard; Hopper, John L.; Win, Aung Ko; Haile, Robert W.; Lindor, Noralane; Gallinger, Steven; Le Marchand, Loic; Newcomb, Polly A.; Figueiredo, Jane; Buchanan, Daniel D.; Thibodeau, Stephen N.; Doeberitz, Magnus von Knebel; Loeffler, Markus; Rahner, Nils; Schroeck, Evelin; Steinke-Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Perne, Claudia; Hueneburg, Robert; Redler, Silke; Buettner, Reinhard; Weitz, Jurgen; Pineda, Marta; Duenas, Nuria; Vidal, Joan Brunet; Moreira, Leticia; Sanchez, Ariadna; Hovig, Eivind; Nakken, Sigve; Green, Kate; Lalloo, Fiona; Hill, James; Crosbie, Emma; Mints, Miriam; Goldberg, Yael; Tjandra, Douglas; ten Broeke, Sanne W.; Kariv, Revital; Rosner, Guy; Advani, Suresh H.; Thomas, Lidiya; Shah, Pankaj; Shah, Mithun; Neffa, Florencia; Esperon, Patricia; Pavicic, Walter; Torrezan, Giovana Tardin; Bassaneze, Thiago; Martin, Claudia Alejandra; Moslein, Gabriela; Moller, Pal
Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells
NATURE COMMUNICATIONS
IF15.7
2022-07-0828
OAAI
Robinson, Philip S.; Thomas, Laura E.; Abascal, Federico; Jung, Hyunchul; Harvey, Luke M. R.; West, Hannah D.; Olafsson, Sigurgeir; Lee, Bernard C. H.; Coorens, Tim H. H.; Lee-Six, Henry; Butlin, Laura; Lander, Nicola; Truscott, Rebekah; Sanders, Mathijs A.; Lensing, Stefanie, V; Buczacki, Simon J. A.; Ten Hoopen, Rogier; Coleman, Nicholas; Brunton-Sim, Roxanne; Rushbrook, Simon; Saeb-Parsy, Kourosh; Lalloo, Fiona; Campbell, Peter J.; Martincorena, Inigo; Sampson, Julian R.; Stratton, Michael R.
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2022-05-0129
OAAI
Palles, Claire; West, Hannah D.; Chew, Edward; Galavotti, Sara; Flensburg, Christoffer; Grolleman, Judith E.; Jansen, Erik A. M.; Curley, Helen; Chegwidden, Laura; Arbe-Barnes, Edward H.; Lander, Nicola; Truscott, Rebekah; Pagan, Judith; Bajel, Ashish; Sherwood, Kitty; Martin, Lynn; Thomas, Huw; Georgiou, Demetra; Fostira, Florentia; Goldberg, Yael; Adams, David J.; van der Biezen, Simone A. M.; Christie, Michael; Clendenning, Mark; Thomas, Laura E.; Deltas, Constantinos; Dimovski, Aleksandar J.; Dymerska, Dagmara; Lubinski, Jan; Mahmood, Khalid; van der Post, Rachel S.; Sanders, Mathijs; Weitz, Jurgen; Taylor, Jenny C.; Turnbull, Clare; Vreede, Lilian; van Wezel, Tom; Whalley, Celina; Arnedo-Pac, Claudia; Caravagna, Giulio; Cross, William; Chubb, Daniel; Frangou, Anna; Gruber, Andreas J.; Kinnersley, Ben; Noyvert, Boris; Church, David; Graham, Trevor; Houlston, Richard; Lopez-Bigas, Nuria; Sottoriva, Andrea; Wedge, David; Jenkins, Mark A.; Kuiper, Roland P.; Roberts, Andrew W.; Cheadle, Jeremy P.; Ligtenberg, Marjolijn J. L.; Hoogerbrugge, Nicoline; Koelzer, Viktor H.; Rivas, Andres Dacal; Winship, Ingrid M.; Ponte, Clara Ruiz; Buchanan, Daniel D.; Power, Derek G.; Green, Andrew; Tomlinson, Ian P. M.; Sampson, Julian R.; Majewski, Ian J.; de Voer, Richarda M.
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations

更新国际结节性硬化症诊断标准及监测和管理建议

PEDIATRIC NEUROLOGY
IF2.1
2021-10-01354
OAAI
Northrup, Hope; Aronow, Mary E.; Bebin, E. Martina; Bissler, John; Darling, Thomas N.; de Vries, Petrus J.; Frost, Michael D.; Fuchs, Zoe; Gosnell, Elizabeth S.; Gupta, Nishant; Jansen, Anna C.; Jozwiak, Sergiusz; Kingswood, J. Chris; Knilans, Timothy K.; McCormack, Francis X.; Pounders, Ashley; Roberds, Steven L.; Rodriguez-Buritica, David F.; Roth, Jonathan; Sampson, Julian R.; Sparagana, Steven; Thiele, Elizabeth Anne; Weiner, Howard L.; Wheless, James W.; Towbin, Alexander J.; Krueger, Darcy A.
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study
JOURNAL OF CLINICAL MEDICINE
IF2.9
2021-06-2813
OAAI
Dominguez-Valentin, Mev; Plazzer, John-Paul; Sampson, Julian R.; Engel, Christoph; Aretz, Stefan; Jenkins, Mark A.; Sunde, Lone; Bernstein, Inge; Capella, Gabriel; Balaguer, Francesc; Macrae, Finlay; Winship, Ingrid M.; Thomas, Huw; Evans, Dafydd Gareth; Burn, John; Greenblatt, Marc; Cappel, Wouter H. de Vos Tot Nederveen; Sijmons, Rolf H.; Nielsen, Maartje; Bertario, Lucio; Bonanni, Bernardo; Tibiletti, Maria Grazia; Cavestro, Giulia Martina; Lindblom, Annika; Della Valle, Adriana; Lopez-Kostner, Francisco; Alvarez, Karin; Gluck, Nathan; Katz, Lior; Heinimann, Karl; Vaccaro, Carlos A.; Nakken, Sigve; Hovig, Eivind; Green, Kate; Lalloo, Fiona; Hill, James; Vasen, Hans F. A.; Perne, Claudia; Buettner, Reinhard; Goergens, Heike; Holinski-Feder, Elke; Morak, Monika; Holzapfel, Stefanie; Hueneburg, Robert; Doeberitz, Magnus von Knebel; Loeffler, Markus; Rahner, Nils; Weitz, Juergen; Steinke-Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Crosbie, Emma J.; Pineda, Marta; Navarro, Matilde; Brunet, Joan; Moreira, Leticia; Sanchez, Ariadna; Serra-Burriel, Miquel; Mints, Miriam; Kariv, Revital; Rosner, Guy; Pinero, Tamara Alejandra; Pavicic, Walter Hernan; Kalfayan, Pablo; ten Broeke, Sanne W.; Mecklin, Jukka-Pekka; Pylvanainen, Kirsi; Renkonen-Sinisalo, Laura; Lepisto, Anna; Peltomaki, Paivi; Hopper, John L.; Win, Aung Ko; Buchanan, Daniel D.; Lindor, Noralane M.; Gallinger, Steven; Le Marchand, Loic; Newcomb, Polly A.; Figueiredo, Jane C.; Thibodeau, Stephen N.; Therkildsen, Christina; Hansen, Thomas V. O.; Lindberg, Lars; Rodland, Einar Andreas; Neffa, Florencia; Esperon, Patricia; Tjandra, Douglas; Moslein, Gabriela; Seppala, Toni T.; Moller, Pal
Uptake of hysterectomy and bilateral salpingooophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report
EUROPEAN JOURNAL OF CANCER
IF7.1
2021-05-0114
OAAI
Seppala, Toni T.; Dominguez-Valentin, Mev; Crosbie, Emma J.; Engel, Christoph; Aretz, Stefan; Macrae, Finlay; Winship, Ingrid; Capella, Gabriel; Thomas, Huw; Hovig, Eivind; Nielsen, Maartje; Sijmons, Rolf H.; Bertario, Lucio; Bonanni, Bernardo; Tibiletti, Maria G.; Cavestro, Giulia M.; Mints, Miriam; Gluck, Nathan; Katz, Lior; Heinimann, Karl; Vaccaro, Carlos A.; Green, Kate; Lalloo, Fiona; Hill, James; Schmiegel, Wolff; Vangala, Deepak; Perne, Claudia; Strauss, Hans-Georg; Tecklenburg, Johanna; Holinski-Feder, Elke; Steinke-Lange, Verena; Mecklin, Jukka-Pekka; Plazzer, John-Paul; Pineda, Marta; Navarro, Matilde; Vida, Joan B.; Kariv, Revital; Rosner, Guy; Pinero, Tamara A.; Pavicic, Walter; Kalfayan, Pablo; Ten Broeke, Sanne W.; Jenkins, Mark A.; Sunde, Lone; Bernstein, Inge; Burn, John; Greenblatt, Marc; Cappel, Wouter H. de Vos Tot Nederveen; Della Valle, Adriana; Lopez-Koestner, Francisco; Alvarez, Karin; Buettner, Reinhard; Goergens, Heike; Morak, Monika; Holzapfel, Stefanie; Hueneburg, Robert; Doeberitz, Magnus von Knebel; Loeffler, Markus; Redler, Silke; Weitz, Jurgen; Pylvaenaeinen, Kirsi; Renkonen-Sinisalo, Laura; Lepisto, Anna; Hopper, John L.; Win, Aung K.; Lindor, Noralane M.; Gallinger, Steven; Marchand, Loic Le; Newcomb, Polly A.; Figueiredo, Jane C.; Thibodeau, Stephen N.; Therkildsen, Christina; Wadt, Karin A. W.; Mourits, Marian J. E.; Ketabi, Zohreh; Denton, Oliver G.; Rodland, Einar A.; Vasen, Hans; Neffa, Florencia; Esperon, Patricia; Tjandra, Douglas; Moeslein, Gabriela; Rokkones, Erik; Sampson, Julian R.; Evans, D. G.; Moller, Pal
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy (Dec, 10.1038/s41436-020-01020-w, 2020)
GENETICS IN MEDICINE
IF6.2
2021-04-011
OAAI
Klockner, Chiara; Sticht, Heinrich; Zacher, Pia; Popp, Bernt; Babcock, Holly E.; Bakker, Dewi P.; Barwick, Katy; Bonfert, Michaela V.; Bonnemann, Carsten G.; Brilstra, Eva H.; Chung, Wendy K.; Clarke, Angus J.; Devine, Patrick; Donkervoort, Sandra; Fraser, Jamie L.; Friedman, Jennifer; Gates, Alyssa; Ghoumid, Jamal; Hobson, Emma; Horvath, Gabriella; Keller-Ramey, Jennifer; Keren, Boris; Kurian, Manju A.; Lee, Virgina; Leppig, Kathleen A.; Lundgren, Johan; McDonald, Marie T.; McLaughlin, Heather M.; McTague, Amy; Mefford, Heather C.; Mignot, Cyril; Mikati, Mohamad A.; Nava, Caroline; Raymond, F. Lucy; Sampson, Julian R.; Sanchis-Juan, Alba; Shashi, Vandana; Shieh, Joseph T. C.; Shinawi, Marwan; Slavotinek, Anne; Stodberg, Tommy; Stong, Nicholas; Sullivan, Jennifer A.; Taylor, Ashley C.; Toler, Tomi L.; van den Boogaard, Marie-Jose; van der Crabben, Saskia N.; van Gassen, Koen L. I.; van Jaarsveld, Richard H.; Van Ziffle, Jessica; Wadley, Alexandrea F.; Wagner, Matias; Wigby, Kristen; Wortmann, Saskia B.; Zarate, Yuri A.; Moller, Rikke S.; Lemke, Johannes R.; Platzer, Konrad
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report
GENETICS IN MEDICINE
IF6.2
2021-04-0125
OAAI
Dominguez-Valentin, Mev; Crosbie, Emma J.; Engel, Christoph; Aretz, Stefan; Macrae, Finlay; Winship, Ingrid; Capella, Gabriel; Thomas, Huw; Nakken, Sigve; Hovig, Eivind; Nielsen, Maartje; Sijmons, Rolf H.; Bertario, Lucio; Bonanni, Bernardo; Tibiletti, Maria Grazia; Cavestro, Giulia Martina; Mints, Miriam; Gluck, Nathan; Katz, Lior; Heinimann, Karl; Vaccaro, Carlos A.; Green, Kate; Lalloo, Fiona; Hill, James; Schmiegel, Wolff; Vangala, Deepak; Perne, Claudia; Strauss, Hans-Georg; Tecklenburg, Johanna; Holinski-Feder, Elke; Steinke-Lange, Verena; Mecklin, Jukka-Pekka; Plazzer, John-Paul; Pineda, Marta; Navarro, Matilde; Brunet Vidal, Joan; Kariv, Revital; Rosner, Guy; Alejandra Pinero, Tamara; Laura Gonzalez, Maria; Kalfayan, Pablo; Ryan, Neil; Ten Broeke, Sanne W.; Jenkins, Mark A.; Sunde, Lone; Bernstein, Inge; Burn, John; Greenblatt, Marc; Cappel, Wouter H. de Vos tot Nederveen; Della Valle, Adriana; Lopez-Koestner, Francisco; Alvarez, Karin; Buettner, Reinhard; Goergens, Heike; Morak, Monika; Holzapfel, Stefanie; Hueneburg, Robert; Doeberitz, Magnus von Knebel; Loeffler, Markus; Rahner, Nils; Weitz, Jurgen; Pylvanainen, Kirsi; Renkonen-Sinisalo, Laura; Lepisto, Anna; Auranen, Annika; Hopper, John L.; Win, Aung Ko; Haile, Robert W.; Lindor, Noralane M.; Gallinger, Steven; Le Marchand, Loic; Newcomb, Polly A.; Figueiredo, Jane C.; Thibodeau, Stephen N.; Therkildsen, Christina; Okkels, Henrik; Ketabi, Zohreh; Denton, Oliver G.; Rodland, Einar Andreas; Vasen, Hans; Neffa, Florencia; Esperon, Patricia; Tjandra, Douglas; Moeslein, Gabriela; Sampson, Julian R.; Evans, D. Gareth; Seppala, Toni T.; Moller, Pal

研究方向

暂未获取到该数据
M
Maartje Nielsen
H 指数:43论文数:207被引数:6,845
T
Toni T. Seppälä
H 指数:52论文数:397被引数:1.0万
P
Pål Møller
H 指数:67论文数:356被引数:2.0万
M
Mev Dominguez–Valentin
H 指数:27论文数:117被引数:3,552
D
D. Gareth Evans
H 指数:182论文数:2,473被引数:13.4万
H
Hans F. A. Vasen
H 指数:110论文数:607被引数:4.9万
S
Stefan Aretz
H 指数:53论文数:258被引数:1.0万
J
John Burn
H 指数:99论文数:622被引数:4.0万
G
Gabriel Capellá
H 指数:82论文数:694被引数:2.7万
C
Christoph Engel
H 指数:92论文数:691被引数:3.6万