Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: WRN: 1105C>T; Arg369Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma.

Medrxiv : The Preprint Server For Health Sciences

Han, Seunghun S; Camp, Sabrina Y SY; Chu, Hoyin H; Collins, Ryan R; Gillani, Riaz R; Park, Jihye J; Bakouny, Ziad Z; Ricker, Cora A CA; Reardon, Brendan B; Moore, Nicholas N; Kofman, Eric E; Labaki, Chris C; Braun, David D; Choueiri, Toni K TK; AlDubayan, Saud H SH; Van Allen, Eliezer M EM

Publication Date: 2023-01-19

Variant appearance in text: WRN: 1105C>T; Arg369Ter; rs17847577

PubMed Link: 36712083

Variant Present in the following documents:

• media-1.xlsx, sheet 5

View BVdb publication page

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Germline Variants in DNA Damage Repair Genes and HOXB13 Among Black Patients With Early-Onset Prostate Cancer.

Jco Precision Oncology

Trendowski, Matthew R MR; Sample, Christopher C; Baird, Tara T; Sadeghpour, Azita A; Moon, David D; Ruterbusch, Julie J JJ; Beebe-Dimmer, Jennifer L JL; Cooney, Kathleen A KA

Publication Date: 2022-11

Variant appearance in text: WRN: Arg369Ter; rs17847577

PubMed Link: 36446039

Variant Present in the following documents:

• po-6-e2200460.pdf

View BVdb publication page

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Comparative Genomics Provides Etiologic and Biological Insight into Melanoma Subtypes.

Cancer Discovery

Newell, Felicity F; Johansson, Peter A PA; Wilmott, James S JS; Nones, Katia K; Lakis, Vanessa V; Pritchard, Antonia L AL; Lo, Serigne N SN; Rawson, Robert V RV; Kazakoff, Stephen H SH; Colebatch, Andrew J AJ; Koufariotis, Lambros T LT; Ferguson, Peter M PM; Wood, Scott S; Leonard, Conrad C; Law, Matthew H MH; Brooks, Kelly M KM; Broit, Natasa N; Palmer, Jane M JM; Couts, Kasey L KL; Vergara, Ismael A IA; Long, Georgina V GV; Barbour, Andrew P AP; Nieweg, Omgo E OE; Shivalingam, Brindha B; Robinson, William A WA; Stretch, Jonathan R JR; Spillane, Andrew J AJ; Saw, Robyn P M RPM; Shannon, Kerwin F KF; Thompson, John F JF; Mann, Graham J GJ; Pearson, John V JV; Scolyer, Richard A RA; Waddell, Nicola N; Hayward, Nicholas K NK

Publication Date: 2022-12-02

Variant appearance in text: WRN: 1105C>T; R369*

PubMed Link: 36098958

Variant Present in the following documents:

• cd-22-0603_supp6.xlsx, sheet 1

View BVdb publication page

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Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases.

Journal Of Medical Genetics

Miller, Danny E DE; Lee, Lin L; Galey, Miranda M; Kandhaya-Pillai, Renuka R; Tischkowitz, Marc M; Amalnath, Deepak D; Vithlani, Avadh A; Yokote, Koutaro K; Kato, Hisaya H; Maezawa, Yoshiro Y; Takada-Watanabe, Aki A; Takemoto, Minoru M; Martin, George M GM; Eichler, Evan E EE; Hisama, Fuki M FM; Oshima, Junko J

Publication Date: 2022-05-09

Variant appearance in text: WRN: 1105C>T; Arg369*

PubMed Link: 35534204

Variant Present in the following documents:

• Main text
• jmedgenet-2022-108485.pdf

View BVdb publication page

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Non-Melanoma Skin Cancers and Other Cutaneous Manifestations in Bone Marrow Failure Syndromes and Rare DNA Repair Disorders.

Frontiers In Oncology

Vagher, Jennie J; Gammon, Amanda A; Kohlmann, Wendy W; Jeter, Joanne J

Publication Date: 2022

Variant appearance in text: WRN: 1105C>T

PubMed Link: 35359366

Variant Present in the following documents:

• Main text
• fonc-12-837059.pdf

View BVdb publication page

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DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.

Genome Medicine

Liu, Jiaqi J; Zhao, Hengqiang H; Zheng, Yu Y; Dong, Lin L; Zhao, Sen S; Huang, Yukuan Y; Huang, Shengkai S; Qian, Tianyi T; Zou, Jiali J; Liu, Shu S; Li, Jun J; Yan, Zihui Z; Li, Yalun Y; Zhang, Shuo S; Huang, Xin X; Wang, Wenyan W; Li, Yiqun Y; Wang, Jie J; Ming, Yue Y; Li, Xiaoxin X; Xing, Zeyu Z; Qin, Ling L; Zhao, Zhengye Z; Jia, Ziqi Z; Li, Jiaxin J; Liu, Gang G; Zhang, Menglu M; Feng, Kexin K; Wu, Jiang J; Zhang, Jianguo J; Yang, Yongxin Y; Wu, Zhihong Z; Liu, Zhihua Z; Ying, Jianming J; Wang, Xin X; Su, Jianzhong J; Wang, Xiang X; Wu, Nan N

Publication Date: 2022-02-25

Variant appearance in text: RECQL2: Arg369Ter

PubMed Link: 35209950

Variant Present in the following documents:

• 13073_2022_1027_MOESM22_ESM.xls, sheet 1

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: WRN: R369X; rs17847577

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Calcification in Werner syndrome associated with lymphatic vessels aging.

Aging

Ogata, Hideyuki H; Akita, Shinsuke S; Ikehara, Sanae S; Azuma, Kazuhiko K; Yamaguchi, Takashi T; Maimaiti, Maihulan M; Maezawa, Yoshiro Y; Kubota, Yoshitaka Y; Yokote, Koutaro K; Mitsukawa, Nobuyuki N; Ikehara, Yuzuru Y

Publication Date: 2021-12-27

Variant appearance in text: WRN: 1105C>T

PubMed Link: 34958633

Variant Present in the following documents:

• Main text

View BVdb publication page

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Werner syndrome presenting as early-onset diabetes: A case report.

Journal Of Diabetes Investigation

Wang, Xiaoli X; Liu, Siruo S; Qin, Fengye F; Liu, Qian Q; Wang, Qiuyue Q

Publication Date: 2022-03

Variant appearance in text: WRN: 1105C>T; rs17847577

PubMed Link: 34564935

Variant Present in the following documents:

• Main text
• JDI-13-592.pdf

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: WRN: 1105C>T; R369X; rs17847577

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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WRN Germline Mutation Is the Likely Inherited Etiology of Various Cancer Types in One Iranian Family.

Frontiers In Oncology

Norouzi, Mahnaz M; Shafiei, Mohammad M; Abdollahi, Zeinab Z; Miar, Paniz P; Galehdari, Hamid H; Emami, Mohammad Hasan MH; Zeinalian, Mehrdad M; Tabatabaiefar, Mohammad Amin MA

Publication Date: 2021

Variant appearance in text: WRN: 1105C>T

PubMed Link: 34164337

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations Involved in Premature-Ageing Syndromes.

The Application Of Clinical Genetics

Coppedè, Fabio F

Publication Date: 2021

Variant appearance in text: WRN: 1105C>T; Arg369*

PubMed Link: 34103969

Variant Present in the following documents:

• Main text
• tacg-14-279.pdf

View BVdb publication page

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Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology

Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM

Publication Date: 2021-04-01

Variant appearance in text: WRN: 1105C>T; Arg369*

PubMed Link: 33630025

Variant Present in the following documents:

• jamaoncol-e207987-s006.xlsx, sheet 2
• jamaoncol-e207987-s004.xlsx, sheet 2

View BVdb publication page

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Inherited Follicular Epithelial-Derived Thyroid Carcinomas: From Molecular Biology to Histological Correlates.

Endocrine Pathology

Cameselle-Teijeiro, José Manuel JM; Mete, Ozgur O; Asa, Sylvia L SL; LiVolsi, Virginia V

Publication Date: 2021-03

Variant appearance in text: WRN: 1105C>T; R369*

PubMed Link: 33495912

Variant Present in the following documents:

• Main text
• 12022_2020_Article_9661.pdf

View BVdb publication page

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: WRN: R369X

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Pathogenic germline variants are associated with poor survival in stage III/IV melanoma patients.

Scientific Reports

Aoude, Lauren G LG; Bonazzi, Vanessa F VF; Brosda, Sandra S; Patel, Kalpana K; Koufariotis, Lambros T LT; Oey, Harald H; Nones, Katia K; Wood, Scott S; Pearson, John V JV; Lonie, James M JM; Arneil, Melissa M; Atkinson, Victoria V; Smithers, B Mark BM; Waddell, Nicola N; Barbour, Andrew P AP

Publication Date: 2020-10-19

Variant appearance in text: WRN: R369*; rs17847577

PubMed Link: 33077847

Variant Present in the following documents:

• 41598_2020_74956_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.

Biomedicines

Stolarova, Lenka L; Jelinkova, Sandra S; Storchova, Radka R; Machackova, Eva E; Zemankova, Petra P; Vocka, Michal M; Kodet, Ondrej O; Kral, Jan J; Cerna, Marta M; Volkova, Zuzana Z; Janatova, Marketa M; Soukupova, Jana J; Stranecky, Viktor V; Dundr, Pavel P; Foretova, Lenka L; Macurek, Libor L; Kleiblova, Petra P; Kleibl, Zdenek Z

Publication Date: 2020-10-09

Variant appearance in text: WRN: 1105C>T; R369*

PubMed Link: 33050356

Variant Present in the following documents:

• Main text
• biomedicines-08-00404.pdf

View BVdb publication page

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WRN-Mutated Colorectal Cancer Is Characterized by a Distinct Genetic Phenotype.

Cancers

Zimmer, Kai K; Puccini, Alberto A; Xiu, Joanne J; Baca, Yasmine Y; Spizzo, Gilbert G; Lenz, Heinz-Josef HJ; Battaglin, Francesca F; Goldberg, Richard M RM; Grothey, Axel A; Shields, Anthony F AF; Salem, Mohamed E ME; Marshall, John L JL; Korn, W Michael WM; Wolf, Dominik D; Kocher, Florian F; Seeber, Andreas A

Publication Date: 2020-05-22

Variant appearance in text: WRN: R369X

PubMed Link: 32455893

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: WRN: 1105C>T; R369*

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM23_ESM.xlsx, sheet 1
• 41467_2020_16067_MOESM10_ESM.xlsx, sheet 1
• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 7

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: WRN: 1105C>T; Arg369*; rs17847577

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic correction of Werner syndrome gene reveals impaired pro-angiogenic function and HGF insufficiency in mesenchymal stem cells.

Aging Cell

Tu, Jiajie J; Wan, Chao C; Zhang, Fengjie F; Cao, Lianbao L; Law, Patrick Wai Nok PWN; Tian, Yuyao Y; Lu, Gang G; Rennert, Owen M OM; Chan, Wai-Yee WY; Cheung, Hoi-Hung HH

Publication Date: 2020-05

Variant appearance in text: WRN: R369X

PubMed Link: 32320127

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence of clinically actionable disease variants in exceptionally long-lived families.

Bmc Medical Genomics

Carlson, Paige P; Wojczynski, Mary K MK; Druley, Todd T; Lee, Joseph H JH; Zmuda, Joseph M JM; Thyagarajan, Bharat B

Publication Date: 2020-04-10

Variant appearance in text: WRN: Arg369*; rs17847577

PubMed Link: 32272925

Variant Present in the following documents:

• Main text
• 12920_2020_Article_710.pdf

View BVdb publication page

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: WRN: 1105C>T; Arg369Ter

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: WRN: 1105C>T; R369*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Latin American Study of Hereditary Breast and Ovarian Cancer LACAM: A Genomic Epidemiology Approach.

Frontiers In Oncology

Oliver, Javier J; Quezada Urban, Rosalía R; Franco Cortés, Claudia Alejandra CA; Díaz Velásquez, Clara Estela CE; Montealegre Paez, Ana Lorena AL; Pacheco-Orozco, Rafael Adrián RA; Castro Rojas, Carlos C; García-Robles, Reggie R; López Rivera, Juan Javier JJ; Gaitán Chaparro, Sandra S; Gómez, Ana Milena AM; Suarez Obando, Fernando F; Giraldo, Gustavo G; Maya, Maria Isabel MI; Hurtado-Villa, Paula P; Sanchez, Ana Isabel AI; Serrano, Norma N; Orduz Galvis, Ana Isabel AI; Aruachan, Sandra S; Nuñez Castillo, Johanna J; Frecha, Cecilia C; Riggi, Cecilia C; Jauk, Federico F; Gómez García, Eva María EM; Carranza, Claudia Lorena CL; Zamora, Vanessa V; Torres Mejía, Gabriela G; Romieu, Isabelle I; Castañeda, Carlos Arturo CA; Castillo, Miluska M; Gitler, Rina R; Antoniano, Adriana A; Rojas Jiménez, Ernesto E; Romero Cruz, Luis Enrique LE; Vallejo Lecuona, Fernando F; Delgado Enciso, Iván I; Martínez Rizo, Abril Bernardette AB; Flores Carranza, Alejandro A; Benites Godinez, Verónica V; Méndez Catalá, Claudia Fabiola CF; Herrera, Luis Alonso LA; Chirino, Yolanda Irasema YI; Terrazas, Luis Ignacio LI; Perdomo, Sandra S; Vaca Paniagua, Felipe F

Publication Date: 2019

Variant appearance in text: WRN: R369X

PubMed Link: 31921681

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identifying sequence variants contributing to hereditary breast and ovarian cancer in BRCA1 and BRCA2 negative breast and ovarian cancer patients.

Scientific Reports

Jarhelle, Elisabeth E; Riise Stensland, Hilde Monica Frostad HMF; Hansen, Geir Åsmund Myge GÅM; Skarsfjord, Siri S; Jonsrud, Christoffer C; Ingebrigtsen, Monica M; Strømsvik, Nina N; Van Ghelue, Marijke M

Publication Date: 2019-12-27

Variant appearance in text: WRN: 1105C>T; Arg369*; rs17847577

PubMed Link: 31882575

Variant Present in the following documents:

• Main text
• 41598_2019_Article_55515.pdf

View BVdb publication page

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Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation

Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS

Publication Date: 2020-04-01

Variant appearance in text: WRN: 1105C>T; R369*; rs17847577

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

View BVdb publication page

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A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.

British Journal Of Cancer

Nassar, Amin H AH; Mouw, Kent W KW; Jegede, Opeyemi O; Shinagare, Atul B AB; Kim, Jaegil J; Liu, Chia-Jen CJ; Pomerantz, Mark M; Harshman, Lauren C LC; Van Allen, Eliezer M EM; Wei, Xiao X XX; McGregor, Bradley B; Choudhury, Atish D AD; Preston, Mark A MA; Dong, Fei F; Signoretti, Sabina S; Lindeman, Neal I NI; Bellmunt, Joaquim J; Choueiri, Toni K TK; Sonpavde, Guru G; Kwiatkowski, David J DJ

Publication Date: 2020-02

Variant appearance in text: WRN: 1105C>T; R369*

PubMed Link: 31857723

Variant Present in the following documents:

• 41416_2019_686_MOESM1_ESM.xlsx, sheet 14
• 41416_2019_686_MOESM1_ESM.xlsx, sheet 8
• 41416_2019_686_MOESM1_ESM.xlsx, sheet 4
• 41416_2019_686_MOESM1_ESM.xlsx, sheet 7
• 41416_2019_686_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: WRN: Arg369*

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM11_ESM.xlsx, sheet 1

View BVdb publication page

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TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology

Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2019-10

Variant appearance in text: WRN: R369X; rs17847577

PubMed Link: 31613886

Variant Present in the following documents:

• pcbi.1007453.s002.xlsx, sheet 1
• pcbi.1007453.s004.xlsx, sheet 2

View BVdb publication page

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Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma.

Cold Spring Harbor Molecular Case Studies

Maciaszek, Jamie L JL; Oak, Ninad N; Chen, Wenan W; Hamilton, Kayla V KV; McGee, Rose B RB; Nuccio, Regina R; Mostafavi, Roya R; Hines-Dowell, Stacy S; Harrison, Lynn L; Taylor, Leslie L; Gerhardt, Elsie L EL; Ouma, Annastasia A; Edmonson, Michael N MN; Patel, Aman A; Nakitandwe, Joy J; Pappo, Alberto S AS; Azzato, Elizabeth M EM; Shurtleff, Sheila A SA; Ellison, David W DW; Downing, James R JR; Hudson, Melissa M MM; Robison, Leslie L LL; Santana, Victor V; Newman, Scott S; Zhang, Jinghui J; Wang, Zhaoming Z; Wu, Gang G; Nichols, Kim E KE; Kesserwan, Chimene A CA

Publication Date: 2019-10

Variant appearance in text: WRN: 1105C>T; Arg369*; rs17847577

PubMed Link: 31604778

Variant Present in the following documents:

• supp_mcs.a004218_Supplemental_Tables.xlsx, sheet 2
• supp_mcs.a004218_Supplemental_Tables.xlsx, sheet 7

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: WRN: 1105C>T; Arg369*; rs17847577

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer.

Npj Genomic Medicine

Bertelsen, Birgitte B; Tuxen, Ida Viller IV; Yde, Christina Westmose CW; Gabrielaite, Migle M; Torp, Mathias Husted MH; Kinalis, Savvas S; Oestrup, Olga O; Rohrberg, Kristoffer K; Spangaard, Iben I; Santoni-Rugiu, Eric E; Wadt, Karin K; Mau-Sorensen, Morten M; Lassen, Ulrik U; Nielsen, Finn Cilius FC

Publication Date: 2019

Variant appearance in text: WRN: Arg369Ter

PubMed Link: 31263571

Variant Present in the following documents:

• Main text
• 41525_2019_Article_87.pdf

View BVdb publication page

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Werner's Syndrome: Understanding the Phenotype of Premature Aging-First Case Described in Colombia.

Case Reports In Genetics

Rincón, A A; Mora, L L; Suarez-Obando, F F; Rojas, J A JA

Publication Date: 2019

Variant appearance in text: WRN: 1105C>T

PubMed Link: 30891318

Variant Present in the following documents:

• Main text
• CRIG2019-8538325.pdf

View BVdb publication page

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Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: WRN: 1105C>T; Arg369Ter

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 7

View BVdb publication page

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Discovery of rare ancestry-specific variants in the fetal genome that confer risk of preterm premature rupture of membranes (PPROM) and preterm birth.

Bmc Medical Genetics

Modi, Bhavi P BP; Parikh, Hardik I HI; Teves, Maria E ME; Kulkarni, Rewa R; Liyu, Jiang J; Romero, Roberto R; York, Timothy P TP; Strauss, Jerome F JF

Publication Date: 2018-10-05

Variant appearance in text: rs17847577

PubMed Link: 30290772

Variant Present in the following documents:

• Main text
• 12881_2018_Article_696.pdf

View BVdb publication page

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Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.

The Lancet. Oncology

Waszak, Sebastian M SM; Northcott, Paul A PA; Buchhalter, Ivo I; Robinson, Giles W GW; Sutter, Christian C; Groebner, Susanne S; Grund, Kerstin B KB; Brugières, Laurence L; Jones, David T W DTW; Pajtler, Kristian W KW; Morrissy, A Sorana AS; Kool, Marcel M; Sturm, Dominik D; Chavez, Lukas L; Ernst, Aurelie A; Brabetz, Sebastian S; Hain, Michael M; Zichner, Thomas T; Segura-Wang, Maia M; Weischenfeldt, Joachim J; Rausch, Tobias T; Mardin, Balca R BR; Zhou, Xin X; Baciu, Cristina C; Lawerenz, Christian C; Chan, Jennifer A JA; Varlet, Pascale P; Guerrini-Rousseau, Lea L; Fults, Daniel W DW; Grajkowska, Wiesława W; Hauser, Peter P; Jabado, Nada N; Ra, Young-Shin YS; Zitterbart, Karel K; Shringarpure, Suyash S SS; De La Vega, Francisco M FM; Bustamante, Carlos D CD; Ng, Ho-Keung HK; Perry, Arie A; MacDonald, Tobey J TJ; Hernáiz Driever, Pablo P; Bendel, Anne E AE; Bowers, Daniel C DC; McCowage, Geoffrey G; Chintagumpala, Murali M MM; Cohn, Richard R; Hassall, Timothy T; Fleischhack, Gudrun G; Eggen, Tone T; Wesenberg, Finn F; Feychting, Maria M; Lannering, Birgitta B; Schüz, Joachim J; Johansen, Christoffer C; Andersen, Tina V TV; Röösli, Martin M; Kuehni, Claudia E CE; Grotzer, Michael M; Kjaerheim, Kristina K; Monoranu, Camelia M CM; Archer, Tenley C TC; Duke, Elizabeth E; Pomeroy, Scott L SL; Shelagh, Redmond R; Frank, Stephan S; Sumerauer, David D; Scheurlen, Wolfram W; Ryzhova, Marina V MV; Milde, Till T; Kratz, Christian P CP; Samuel, David D; Zhang, Jinghui J; Solomon, David A DA; Marra, Marco M; Eils, Roland R; Bartram, Claus R CR; von Hoff, Katja K; Rutkowski, Stefan S; Ramaswamy, Vijay V; Gilbertson, Richard J RJ; Korshunov, Andrey A; Taylor, Michael D MD; Lichter, Peter P; Malkin, David D; Gajjar, Amar A; Korbel, Jan O JO; Pfister, Stefan M SM

Publication Date: 2018-06

Variant appearance in text: rs17847577

PubMed Link: 29753700

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics

Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C

Publication Date: 2018-04

Variant appearance in text: WRN: R369*

PubMed Link: 29684080

Variant Present in the following documents:

• pgen.1007352.s008.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: WRN: 1105C>T; Arg369Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.

Human Mutation

Yokote, Koutaro K; Chanprasert, Sirisak S; Lee, Lin L; Eirich, Katharina K; Takemoto, Minoru M; Watanabe, Aki A; Koizumi, Naoko N; Lessel, Davor D; Mori, Takayasu T; Hisama, Fuki M FM; Ladd, Paula D PD; Angle, Brad B; Baris, Hagit H; Cefle, Kivanc K; Palanduz, Sukru S; Ozturk, Sukru S; Chateau, Antoinette A; Deguchi, Kentaro K; Easwar, T K M TK; Federico, Antonio A; Fox, Amy A; Grebe, Theresa A TA; Hay, Beverly B; Nampoothiri, Sheela S; Seiter, Karen K; Streeten, Elizabeth E; Piña-Aguilar, Raul E RE; Poke, Gemma G; Poot, Martin M; Posmyk, Renata R; Martin, George M GM; Kubisch, Christian C; Schindler, Detlev D; Oshima, Junko J

Publication Date: 2017-01

Variant appearance in text: WRN: 1105C>T; rs17847577

PubMed Link: 27667302

Variant Present in the following documents:

• Main text

View BVdb publication page

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Werner syndrome through the lens of tissue and tumour genomics.

Scientific Reports

Tokita, Mari M; Kennedy, Scott R SR; Risques, Rosa Ana RA; Chun, Stephen G SG; Pritchard, Colin C; Oshima, Junko J; Liu, Yan Y; Bryant-Greenwood, Peter K PK; Welcsh, Piri P; Monnat, Raymond J RJ

Publication Date: 2016-08-25

Variant appearance in text: WRN: R369*

PubMed Link: 27559010

Variant Present in the following documents:

• Main text
• srep32038.pdf

View BVdb publication page

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Patterns and functional implications of rare germline variants across 12 cancer types.

Nature Communications

Lu, Charles C; Xie, Mingchao M; Wendl, Michael C MC; Wang, Jiayin J; McLellan, Michael D MD; Leiserson, Mark D M MD; Huang, Kuan-Lin KL; Wyczalkowski, Matthew A MA; Jayasinghe, Reyka R; Banerjee, Tapahsama T; Ning, Jie J; Tripathi, Piyush P; Zhang, Qunyuan Q; Niu, Beifang B; Ye, Kai K; Schmidt, Heather K HK; Fulton, Robert S RS; McMichael, Joshua F JF; Batra, Prag P; Kandoth, Cyriac C; Bharadwaj, Maheetha M; Koboldt, Daniel C DC; Miller, Christopher A CA; Kanchi, Krishna L KL; Eldred, James M JM; Larson, David E DE; Welch, John S JS; You, Ming M; Ozenberger, Bradley A BA; Govindan, Ramaswamy R; Walter, Matthew J MJ; Ellis, Matthew J MJ; Mardis, Elaine R ER; Graubert, Timothy A TA; Dipersio, John F JF; Ley, Timothy J TJ; Wilson, Richard K RK; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Chen, Feng F; Johnson, Kimberly J KJ; Parvin, Jeffrey D JD; Ding, Li L

Publication Date: 2015-12-22

Variant appearance in text: WRN: R369*

PubMed Link: 26689913

Variant Present in the following documents:

• ncomms10086-s3.xlsx, sheet 1

View BVdb publication page

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A novel Werner Syndrome mutation: pharmacological treatment by read-through of nonsense mutations and epigenetic therapies.

Epigenetics

Agrelo, Ruben R; Sutz, Miguel Arocena MA; Setien, Fernando F; Aldunate, Fabian F; Esteller, Manel M; Da Costa, Valeria V; Achenbach, Ricardo R

Publication Date: 2015

Variant appearance in text: WRN: R369X

PubMed Link: 25830902

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reprogramming suppresses premature senescence phenotypes of Werner syndrome cells and maintains chromosomal stability over long-term culture.

Plos One

Shimamoto, Akira A; Kagawa, Harunobu H; Zensho, Kazumasa K; Sera, Yukihiro Y; Kazuki, Yasuhiro Y; Osaki, Mitsuhiko M; Oshimura, Mitsuo M; Ishigaki, Yasuhito Y; Hamasaki, Kanya K; Kodama, Yoshiaki Y; Yuasa, Shinsuke S; Fukuda, Keiichi K; Hirashima, Kyotaro K; Seimiya, Hiroyuki H; Koyama, Hirofumi H; Shimizu, Takahiko T; Takemoto, Minoru M; Yokote, Koutaro K; Goto, Makoto M; Tahara, Hidetoshi H

Publication Date: 2014

Variant appearance in text: WRN: 1105C>T

PubMed Link: 25390333

Variant Present in the following documents:

• Main text

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: WRN: R369*

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1

View BVdb publication page

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Clinical utility gene card for: Werner Syndrome--Update 2014.

European Journal Of Human Genetics : Ejhg

Hisama, Fuki M FM; Kubisch, Christian C; Martin, George M GM; Oshima, Junko J

Publication Date: 2015-06

Variant appearance in text: RECQ3: 1105C>T

PubMed Link: 25182132

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide mutational landscape of mucinous carcinomatosis peritonei of appendiceal origin.

Genome Medicine

Alakus, Hakan H; Babicky, Michele L ML; Ghosh, Pradipta P; Yost, Shawn S; Jepsen, Kristen K; Dai, Yang Y; Arias, Angelo A; Samuels, Michael L ML; Mose, Evangeline S ES; Schwab, Richard B RB; Peterson, Michael R MR; Lowy, Andrew M AM; Frazer, Kelly A KA; Harismendy, Olivier O

Publication Date: 2014

Variant appearance in text: WRN: R369X

PubMed Link: 24944587

Variant Present in the following documents:

• gm559-S3.xls, sheet 5

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: WRN: R369*

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-8.xlsx, sheet 1

View BVdb publication page

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The epidemiology of premature aging and associated comorbidities.

Clinical Interventions In Aging

Coppedè, Fabio F

Publication Date: 2013

Variant appearance in text: WRN: 1105C>T; R369X

PubMed Link: 24019745

Variant Present in the following documents:

• Main text
• cia-8-1023.pdf

View BVdb publication page

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The genetic landscape of high-risk neuroblastoma.

Nature Genetics

Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM

Publication Date: 2013-03

Variant appearance in text: WRN: 1105C>T; R369*; rs17847577

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-8.xlsx, sheet 1
• NIHMS474900-supplement-9.xlsx, sheet 1

View BVdb publication page

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