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

Association of Y-chromosomal gr/gr deletions with testicular germ cell tumor: whole-genome analysis of 198,306 individuals

Y染色体gr/gr缺失与睾丸生殖细胞肿瘤的关联:198,306名个体的全基因组分析

Choi, Subin; Rocca, Maria Santa; Vinanzi, Cinzia; Pluta, John; Kuzbari, Zeid; Loveday, Chey; Allen, Sophie; Torr, Beth; Weathers, Benita; Anson-Cartwright, Lynn; Feldman, Darren R; Gietema, Jourik A; Gonzalez-Neira, Anna; Hamilton, Robert J; Krausz, Csilla; Moirano, Giovenale; Nead, Kevin T; Nsengimana, Jérémie; Poynter, Jenny N; Vaughn, David J; Kanetsky, Peter A; Nathanson, Katherine L; Ferlin, Alberto; Turnbull, Clare; Rowlands, Charlie F

Identification of genes associated with testicular germ cell tumor susceptibility through a transcriptome-wide association study.

通过全转录组关联研究鉴定与睾丸生殖细胞肿瘤易感性相关的基因

Ugalde-Morales Emilio, Wilf Rona, Pluta John, Ploner Alexander, Fan Mengyao, Damra Mohammad, Aben Katja K, Anson-Cartwright Lynn, Chen Chu, Cortessis Victoria K, Daneshmand Siamak, Ferlin Alberto, Gamulin Marija, Gietema Jourik A, Gonzalez-Niera Anna, Grotmol Tom, Hamilton Robert J, Harland Mark, Haugen Trine B, Hauser Russ, Hildebrandt Michelle A T, Karlsson Robert, Kiemeney Lambertus A, Kim Jung, Lessel Davor, Lothe Ragnhild A, Loveday Chey, Chanock Stephen J, McGlynn Katherine A, Meijer Coby, Nead Kevin T, Nsengimana Jeremie, Popovic Maja, Rafnar Thorunn, Richiardi Lorenzo, Rocca Maria S, Schwartz Stephen M, Skotheim Rolf I, Stefansson Kari, Stewart Douglas R, Turnbull Clare, Vaughn David J, Winge Sofia B, Zheng Tongzhang, Monteiro Alvaro N, Almstrup Kristian, Kanetsky Peter A, Nathanson Katherine L, Wiklund Fredrik

Meta-analysis of Germline Whole-exome Sequencing in 1435 Cases of Testicular Germ Cell Tumour to Evaluate Disruptive Mutations Under Dominant, Recessive, and X-linked Inheritance Models

对 1435 例睾丸生殖细胞肿瘤患者的生殖系全外显子组测序进行荟萃分析,以评估显性、隐性和 X 连锁遗传模型下的破坏性突变

Kuzbari, Zeid; Rowlands, Charlie F; Wade, Isaac; Garrett, Alice; Loveday, Chey; Choi, Subin; Torr, Beth; Litchfield, Kevin; Reid, Alison; Huddart, Robert; Broderick, Peter; Houlston, Richard S; Turnbull, Clare

Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD

量化罕见表型致病性的证据:以琥珀酸脱氢酶基因 SDHB 和 SDHD 为例

Garrett, Alice; Loveday, Chey; King, Laura; Butler, Samantha; Robinson, Rachel; Horton, Carrie; Yussuf, Amal; Choi, Subin; Torr, Beth; Durkie, Miranda; Burghel, George J; Drummond, James; Berry, Ian; Wallace, Andrew; Callaway, Alison; Eccles, Diana; Tischkowitz, Marc; Tatton-Brown, Katrina; Snape, Katie; McVeigh, Terri; Izatt, Louise; Woodward, Emma R; Burnichon, Nelly; Gimenez-Roqueplo, Anne-Paule; Mazzarotto, Francesco; Whiffin, Nicola; Ware, James; Hanson, Helen; Pesaran, Tina; LaDuca, Holly; Buffet, Alexandre; Maher, Eamonn R; Turnbull, Clare

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants

利用 7541 个 BRCA1 和 MSH2 错义变异的功能分类,量化密码子内一致性致病性预测 (PM5)

Loong, Lucy; Cubuk, Cankut; Choi, Subin; Allen, Sophie; Torr, Beth; Garrett, Alice; Loveday, Chey; Durkie, Miranda; Callaway, Alison; Burghel, George J; Drummond, James; Robinson, Rachel; Berry, Ian R; Wallace, Andrew; Eccles, Diana M; Tischkowitz, Marc; Ellard, Sian; Ware, James S; Hanson, Helen; Turnbull, Clare

Association Study between Polymorphisms in DNA Methylation-Related Genes and Testicular Germ Cell Tumor Risk

DNA甲基化相关基因多态性与睾丸生殖细胞肿瘤风险的关联研究

Grasso, Chiara; Popovic, Maja; Isaevska, Elena; Lazzarato, Fulvio; Fiano, Valentina; Zugna, Daniela; Pluta, John; Weathers, Benita; D'Andrea, Kurt; Almstrup, Kristian; Anson-Cartwright, Lynn; Bishop, D Timothy; Chanock, Stephen J; Chen, Chu; Cortessis, Victoria K; Dalgaard, Marlene D; Daneshmand, Siamak; Ferlin, Alberto; Foresta, Carlo; Frone, Megan N; Gamulin, Marija; Gietema, Jourik A; Greene, Mark H; Grotmol, Tom; Hamilton, Robert J; Haugen, Trine B; Hauser, Russ; Karlsson, Robert; Kiemeney, Lambertus A; Lessel, Davor; Lista, Patrizia; Lothe, Ragnhild A; Loveday, Chey; Meijer, Coby; Nead, Kevin T; Nsengimana, Jérémie; Skotheim, Rolf I; Turnbull, Clare; Vaughn, David J; Wiklund, Fredrik; Zheng, Tongzhang; Zitella, Andrea; Schwartz, Stephen M; McGlynn, Katherine A; Kanetsky, Peter A; Nathanson, Katherine L; Richiardi, Lorenzo

Prioritisation by FIT to mitigate the impact of delays in the 2-week wait colorectal cancer referral pathway during the COVID-19 pandemic: a UK modelling study

FIT优先考虑减轻COVID-19疫情期间两周内结直肠癌转诊途径延误的影响:一项英国建模研究

Loveday, Chey; Sud, Amit; Jones, Michael E; Broggio, John; Scott, Stephen; Gronthound, Firza; Torr, Beth; Garrett, Alice; Nicol, David L; Jhanji, Shaman; Boyce, Stephen A; Williams, Matthew; Barry, Claire; Riboli, Elio; Kipps, Emma; McFerran, Ethna; Muller, David C; Lyratzopoulos, Georgios; Lawler, Mark; Abulafi, Muti; Houlston, Richard S; Turnbull, Clare

Identification of 22 susceptibility loci associated with testicular germ cell tumors

鉴定出与睾丸生殖细胞肿瘤相关的22个易感基因位点

Pluta, John; Pyle, Louise C; Nead, Kevin T; Wilf, Rona; Li, Mingyao; Mitra, Nandita; Weathers, Benita; D'Andrea, Kurt; Almstrup, Kristian; Anson-Cartwright, Lynn; Benitez, Javier; Brown, Christopher D; Chanock, Stephen; Chen, Chu; Cortessis, Victoria K; Ferlin, Alberto; Foresta, Carlo; Gamulin, Marija; Gietema, Jourik A; Grasso, Chiara; Greene, Mark H; Grotmol, Tom; Hamilton, Robert J; Haugen, Trine B; Hauser, Russ; Hildebrandt, Michelle A T; Johnson, Matthew E; Karlsson, Robert; Kiemeney, Lambertus A; Lessel, Davor; Lothe, Ragnhild A; Loud, Jennifer T; Loveday, Chey; Martin-Gimeno, Paloma; Meijer, Coby; Nsengimana, Jérémie; Quinn, David I; Rafnar, Thorunn; Ramdas, Shweta; Richiardi, Lorenzo; Skotheim, Rolf I; Stefansson, Kari; Turnbull, Clare; Vaughn, David J; Wiklund, Fredrik; Wu, Xifeng; Yang, Daphne; Zheng, Tongzhang; Wells, Andrew D; Grant, Struan F A; Rajpert-De Meyts, Ewa; Schwartz, Stephen M; Bishop, D Timothy; McGlynn, Katherine A; Kanetsky, Peter A; Nathanson, Katherine L

Genetically Inferred Telomere Length and Testicular Germ Cell Tumor Risk

基因推断的端粒长度与睾丸生殖细胞肿瘤风险

Brown, Derek W; Lan, Qing; Rothman, Nathaniel; Pluta, John; Almstrup, Kristian; Dalgaard, Marlene D; Greene, Mark H; Grotmol, Tom; Loveday, Chey; Schwartz, Stephen M; Turnbull, Clare; Wiklund, Fredrik; Kanetsky, Peter A; Nathanson, Katherine L; McGlynn, Katherine A; Machiela, Mitchell J

Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D

RAD51C 和 RAD51D 致病变异与卵巢癌和乳腺癌风险相关

Yang, Xin; Song, Honglin; Leslie, Goska; Engel, Christoph; Hahnen, Eric; Auber, Bernd; Horváth, Judit; Kast, Karin; Niederacher, Dieter; Turnbull, Clare; Houlston, Richard; Hanson, Helen; Loveday, Chey; Dolinsky, Jill S; LaDuca, Holly; Ramus, Susan J; Menon, Usha; Rosenthal, Adam N; Jacobs, Ian; Gayther, Simon A; Dicks, Ed; Nevanlinna, Heli; Aittomäki, Kristiina; Pelttari, Liisa M; Ehrencrona, Hans; Borg, Åke; Kvist, Anders; Rivera, Barbara; Hansen, Thomas V O; Djursby, Malene; Lee, Andrew; Dennis, Joe; Bowtell, David D; Traficante, Nadia; Diez, Orland; Balmaña, Judith; Gruber, Stephen B; Chenevix-Trench, Georgia; Investigators, kConFab; Jensen, Allan; Kjær, Susanne K; Høgdall, Estrid; Castéra, Laurent; Garber, Judy; Janavicius, Ramunas; Osorio, Ana; Golmard, Lisa; Vega, Ana; Couch, Fergus J; Robson, Mark; Gronwald, Jacek; Domchek, Susan M; Culver, Julie O; de la Hoya, Miguel; Easton, Douglas F; Foulkes, William D; Tischkowitz, Marc; Meindl, Alfons; Schmutzler, Rita K; Pharoah, Paul D P; Antoniou, Antonis C