日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Distribution of age at natural menopause, age at menarche, menstrual cycle length, height and BMI in BRCA1 and BRCA2 pathogenic variant carriers and non-carriers: results from EMBRACE

BRCA1 和 BRCA2 致病变异携带者和非携带者自然绝经年龄、初潮年龄、月经周期长度、身高和 BMI 的分布:EMBRACE 研究结果

Mavaddat, Nasim; Frost, Debra; Zhao, Emily; Barnes, Daniel R; Ahmed, Munaza; Barwell, Julian; Brady, Angela F; Brennan, Paul; Conti, Hector; Cook, Jackie; Copeland, Harriet; Davidson, Rosemarie; Donaldson, Alan; Douglas, Emma; Gallagher, David; Hart, Rachel; Izatt, Louise; Kemp, Zoe; Lalloo, Fiona; Miedzybrodzka, Zosia; Morrison, Patrick J; Murray, Jennie E; Murray, Alex; Musgrave, Hannah; Searle, Claire; Side, Lucy; Snape, Katie; Tripathi, Vishakha; Walker, Lisa; Archer, Stephanie; Evans, D Gareth; Tischkowitz, Marc; Antoniou, Antonis C; Easton, Douglas F

Investigating the use of a patient-facing digital app to support Lynch syndrome carriers in the management of their condition

研究使用面向患者的数字应用程序来帮助林奇综合征携带者管理他们的病情。

Hopkinson, Megan I; Sooch, Reena; Beauvais, Charlotte; Hodgson, Shirley V; Smith, Tracy Ann; Jonhera, Madonna; Shepherd, Stan; Barwell, Julian

Identification and characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease.

鉴定和表征一种罕见的 MTTP 变异体,该变异体是遗传性非酒精性脂肪肝疾病的基础

Grove Jane I, Lo Peggy C K, Shrine Nick, Barwell Julian, Wain Louise V, Tobin Martin D, Salter Andrew M, Borkar Aditi N, Cuevas-Ocaña Sara, Bennett Neil, John Catherine, Ntalla Ioanna, Jones Gabriela E, Neal Christopher P, Thomas Mervyn G, Kuht Helen, Gupta Pankaj, Vemala Vishwaraj M, Grant Allister, Adewoye Adeolu B, Shenoy Kotacherry T, Balakumaran Leena K, Hollox Edward J, Hannan Nicholas R F, Aithal Guruprasad P

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

利用多基因风险评分评估男性 BRCA1 和 BRCA2 致病变异携带者的乳腺癌和前列腺癌风险

Barnes, Daniel R; Silvestri, Valentina; Leslie, Goska; McGuffog, Lesley; Dennis, Joe; Yang, Xin; Adlard, Julian; Agnarsson, Bjarni A; Ahmed, Munaza; Aittomäki, Kristiina; Andrulis, Irene L; Arason, Adalgeir; Arnold, Norbert; Auber, Bernd; Azzollini, Jacopo; Balmaña, Judith; Barkardottir, Rosa B; Barrowdale, Daniel; Barwell, Julian; Belotti, Muriel; Benitez, Javier; Berthet, Pascaline; Boonen, Susanne E; Borg, Åke; Bozsik, Aniko; Brady, Angela F; Brennan, Paul; Brewer, Carole; Brunet, Joan; Bucalo, Agostino; Buys, Saundra S; Caldés, Trinidad; Caligo, Maria A; Campbell, Ian; Cassingham, Hayley; Christensen, Lise Lotte; Cini, Giulia; Claes, Kathleen B M; Cook, Jackie; Coppa, Anna; Cortesi, Laura; Damante, Giuseppe; Darder, Esther; Davidson, Rosemarie; de la Hoya, Miguel; De Leeneer, Kim; de Putter, Robin; Del Valle, Jesús; Diez, Orland; Ding, Yuan Chun; Domchek, Susan M; Donaldson, Alan; Eason, Jacqueline; Eeles, Ros; Engel, Christoph; Evans, D Gareth; Feliubadaló, Lidia; Fostira, Florentia; Frone, Megan; Frost, Debra; Gallagher, David; Gehrig, Andrea; Giraud, Sophie; Glendon, Gord; Godwin, Andrew K; Goldgar, David E; Greene, Mark H; Gregory, Helen; Gross, Eva; Hahnen, Eric; Hamann, Ute; Hansen, Thomas V O; Hanson, Helen; Hentschel, Julia; Horvath, Judit; Izatt, Louise; Izquierdo, Angel; James, Paul A; Janavicius, Ramunas; Jensen, Uffe Birk; Johannsson, Oskar Th; John, Esther M; Kramer, Gero; Kroeldrup, Lone; Kruse, Torben A; Lautrup, Charlotte; Lazaro, Conxi; Lesueur, Fabienne; Lopez-Fernández, Adria; Mai, Phuong L; Manoukian, Siranoush; Matrai, Zoltan; Matricardi, Laura; Maxwell, Kara N; Mebirouk, Noura; Meindl, Alfons; Montagna, Marco; Monteiro, Alvaro N; Morrison, Patrick J; Muranen, Taru A; Murray, Alex; Nathanson, Katherine L; Neuhausen, Susan L; Nevanlinna, Heli; Nguyen-Dumont, Tu; Niederacher, Dieter; Olah, Edith; Olopade, Olufunmilayo I; Palli, Domenico; Parsons, Michael T; Pedersen, Inge Sokilde; Peissel, Bernard; Perez-Segura, Pedro; Peterlongo, Paolo; Petersen, Annabeth H; Pinto, Pedro; Porteous, Mary E; Pottinger, Caroline; Pujana, Miquel Angel; Radice, Paolo; Ramser, Juliane; Rantala, Johanna; Robson, Mark; Rogers, Mark T; Rønlund, Karina; Rump, Andreas; Sánchez de Abajo, Ana María; Shah, Payal D; Sharif, Saba; Side, Lucy E; Singer, Christian F; Stadler, Zsofia; Steele, Linda; Stoppa-Lyonnet, Dominique; Sutter, Christian; Tan, Yen Yen; Teixeira, Manuel R; Teulé, Alex; Thull, Darcy L; Tischkowitz, Marc; Toland, Amanda E; Tommasi, Stefania; Toss, Angela; Trainer, Alison H; Tripathi, Vishakha; Valentini, Virginia; van Asperen, Christi J; Venturelli, Marta; Viel, Alessandra; Vijai, Joseph; Walker, Lisa; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Whaite, Anna; Zanna, Ines; Offit, Kenneth; Thomassen, Mads; Couch, Fergus J; Schmutzler, Rita K; Simard, Jacques; Easton, Douglas F; Chenevix-Trench, Georgia; Antoniou, Antonis C; Ottini, Laura

Evaluating the Feasibility of Screening Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Diseases: The REST Study

评估对非综合征性胸主动脉疾病患者亲属进行筛查的可行性:REST 研究

Abbasciano, Riccardo Giuseppe; Mariscalco, Giovanni; Barwell, Julian; Owens, Gareth; Zakkar, Mustafa; Joel-David, Lathishia; Pathak, Suraj; Adebayo, Adewale; Shannon, Nora; Haines, Rebecca Louise; Aujla, Hardeep; Eagle-Hemming, Bryony; Kumar, Tracy; Lai, Florence; Wozniak, Marcin; Murphy, Gavin

Clinical genetics: past, present and future

临床遗传学:过去、现在和未来

Tromans, Eva; Barwell, Julian

Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective

在西班牙格拉纳达地区鉴定遗传性乳腺癌和卵巢癌种系变异:NGS视角

Molina-Zayas, María; Garrido-Navas, Carmen; García-Puche, Jose Luis; Barwell, Julian; Pedrinaci, Susana; Atienza, Margarita Martínez; García-Linares, Susana; de Haro-Muñoz, Tomás; Lorente, Jose Antonio; Serrano, M Jose; Poyatos-Andújar, Antonio

A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study

针对携带错配修复基因致病性变异男性开展的前列腺癌筛查项目(IMPACT):一项国际前瞻性研究的初步结果

Bancroft, Elizabeth K; Page, Elizabeth C; Brook, Mark N; Thomas, Sarah; Taylor, Natalie; Pope, Jennifer; McHugh, Jana; Jones, Ann-Britt; Karlsson, Questa; Merson, Susan; Ong, Kai Ren; Hoffman, Jonathan; Huber, Camilla; Maehle, Lovise; Grindedal, Eli Marie; Stormorken, Astrid; Evans, D Gareth; Rothwell, Jeanette; Lalloo, Fiona; Brady, Angela F; Bartlett, Marion; Snape, Katie; Hanson, Helen; James, Paul; McKinley, Joanne; Mascarenhas, Lyon; Syngal, Sapna; Ukaegbu, Chinedu; Side, Lucy; Thomas, Tessy; Barwell, Julian; Teixeira, Manuel R; Izatt, Louise; Suri, Mohnish; Macrae, Finlay A; Poplawski, Nicola; Chen-Shtoyerman, Rakefet; Ahmed, Munaza; Musgrave, Hannah; Nicolai, Nicola; Greenhalgh, Lynn; Brewer, Carole; Pachter, Nicholas; Spigelman, Allan D; Azzabi, Ashraf; Helfand, Brian T; Halliday, Dorothy; Buys, Saundra; Ramon Y Cajal, Teresa; Donaldson, Alan; Cooney, Kathleen A; Harris, Marion; McGrath, John; Davidson, Rosemarie; Taylor, Amy; Cooke, Peter; Myhill, Kathryn; Hogben, Matthew; Aaronson, Neil K; Ardern-Jones, Audrey; Bangma, Chris H; Castro, Elena; Dearnaley, David; Dias, Alexander; Dudderidge, Tim; Eccles, Diana M; Green, Kate; Eyfjord, Jorunn; Falconer, Alison; Foster, Christopher S; Gronberg, Henrik; Hamdy, Freddie C; Johannsson, Oskar; Khoo, Vincent; Lilja, Hans; Lindeman, Geoffrey J; Lubinski, Jan; Axcrona, Karol; Mikropoulos, Christos; Mitra, Anita V; Moynihan, Clare; Ni Raghallaigh, Holly; Rennert, Gad; Collier, Rebecca; Offman, Judith; Kote-Jarai, Zsofia; Eeles, Rosalind A

Extended Cohort for E-health, Environment and DNA (EXCEED) COVID-19 focus

电子健康、环境和DNA扩展队列(EXCEED)COVID-19重点

Lee, Paul H; Guyatt, Anna L; John, Catherine; Ali, Altaf; Wang, Xueyang; Williams, Alexander T; Zhao, Bo; Batini, Chiara; Bee, Catherine; Adams, Emma; Melbourne, Carl A; Brightling, Christopher E; Hsu, Ron; Bethea, Jane; Reeve, Nicola; Ntalla, Ioanna; Terry, Sarah; Pareek, Manish; Brunskill, Nigel J; Barwell, Julian; Hollox, Edward J; Miola, Jose; Wallace, Susan E; Shepherd, David J; Packer, Richard; Venn, Laura; Wain, Louise V; Free, Robert C; Tobin, Martin D

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

与生殖系PALB2致病变异相关的癌症风险:一项针对524个家庭的国际研究

Yang, Xin; Leslie, Goska; Doroszuk, Alicja; Schneider, Sandra; Allen, Jamie; Decker, Brennan; Dunning, Alison M; Redman, James; Scarth, James; Plaskocinska, Inga; Luccarini, Craig; Shah, Mitul; Pooley, Karen; Dorling, Leila; Lee, Andrew; Adank, Muriel A; Adlard, Julian; Aittomäki, Kristiina; Andrulis, Irene L; Ang, Peter; Barwell, Julian; Bernstein, Jonine L; Bobolis, Kristie; Borg, Åke; Blomqvist, Carl; Claes, Kathleen B M; Concannon, Patrick; Cuggia, Adeline; Culver, Julie O; Damiola, Francesca; de Pauw, Antoine; Diez, Orland; Dolinsky, Jill S; Domchek, Susan M; Engel, Christoph; Evans, D Gareth; Fostira, Florentia; Garber, Judy; Golmard, Lisa; Goode, Ellen L; Gruber, Stephen B; Hahnen, Eric; Hake, Christopher; Heikkinen, Tuomas; Hurley, Judith E; Janavicius, Ramunas; Kleibl, Zdenek; Kleiblova, Petra; Konstantopoulou, Irene; Kvist, Anders; Laduca, Holly; Lee, Ann S G; Lesueur, Fabienne; Maher, Eamonn R; Mannermaa, Arto; Manoukian, Siranoush; McFarland, Rachel; McKinnon, Wendy; Meindl, Alfons; Metcalfe, Kelly; Mohd Taib, Nur Aishah; Moilanen, Jukka; Nathanson, Katherine L; Neuhausen, Susan; Ng, Pei Sze; Nguyen-Dumont, Tu; Nielsen, Sarah M; Obermair, Florian; Offit, Kenneth; Olopade, Olufunmilayo I; Ottini, Laura; Penkert, Judith; Pylkäs, Katri; Radice, Paolo; Ramus, Susan J; Rudaitis, Vilius; Side, Lucy; Silva-Smith, Rachel; Silvestri, Valentina; Skytte, Anne-Bine; Slavin, Thomas; Soukupova, Jana; Tondini, Carlo; Trainer, Alison H; Unzeitig, Gary; Usha, Lydia; van Overeem Hansen, Thomas; Whitworth, James; Wood, Marie; Yip, Cheng Har; Yoon, Sook-Yee; Yussuf, Amal; Zogopoulos, George; Goldgar, David; Hopper, John L; Chenevix-Trench, Georgia; Pharoah, Paul; George, Sophia H L; Balmaña, Judith; Houdayer, Claude; James, Paul; El-Haffaf, Zaki; Ehrencrona, Hans; Janatova, Marketa; Peterlongo, Paolo; Nevanlinna, Heli; Schmutzler, Rita; Teo, Soo-Hwang; Robson, Mark; Pal, Tuya; Couch, Fergus; Weitzel, Jeffrey N; Elliott, Aaron; Southey, Melissa; Winqvist, Robert; Easton, Douglas F; Foulkes, William D; Antoniou, Antonis C; Tischkowitz, Marc