Publications:

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Targeting FGFR Pathway Is Not an Effective Therapeutic Strategy in Patients with Unselected Metastatic Esophagogastric Cancer Resistant to Trastuzumab.

Journal Of Personalized Medicine

Zecchetto, Camilla C; Quinzii, Alberto A; Casalino, Simona S; Gaule, Marina M; Pesoni, Camilla C; Merz, Valeria V; Pietrobono, Silvia S; Mangiameli, Domenico D; Pasquato, Martina M; Milleri, Stefano S; Giacopuzzi, Simone S; Bencivenga, Maria M; Tomezzoli, Anna A; de Manzoni, Giovanni G; Melisi, Davide D

Publication Date: 2023-03-11

Variant appearance in text: CREBBP: 2941G>A; A981T

PubMed Link: 36983691

Variant Present in the following documents:

• jpm-13-00508.pdf

View BVdb publication page

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Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg

Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T

Publication Date: 2021-08

Variant appearance in text: CREBBP: 2941G>A; Ala981Thr; rs61753380

PubMed Link: 33840814

Variant Present in the following documents:

• 41431_2021_878_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg

Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T

Publication Date: 2021-08

Variant appearance in text: CREBBP: 2941G>A; Ala981Thr; rs61753380

PubMed Link: 33840814

Variant Present in the following documents:

• 41431_2021_878_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Baseline SUVmax is related to tumor cell proliferation and patient outcome in follicular lymphoma.

Haematologica

Rossi, Cédric C; Tosolini, Marie M; Gravelle, Pauline P; Pericart, Sarah S; Kanoun, Salim S; Evrard, Solene S; Gilhodes, Julia J; Franchini, Don-Marc DM; Amara, Nadia N; Syrykh, Charlotte C; Bories, Pierre P; Oberic, Lucie L; Ysebaert, Loïc L; Martin, Laurent L; Ramla, Selim S; Robert, Philippine P; Tabouret-Viaud, Claire C; Casasnovas, René-Olivier RO; Fournié, Jean-Jacques JJ; Bezombes, Christine C; Laurent, Camille C

Publication Date: 2022-01-01

Variant appearance in text: CREBBP: 2941G>A; Ala981Thr

PubMed Link: 33327711

Variant Present in the following documents:

• 2020_263194_ROSSI_TAB3_SUPPL.xls, sheet 1

View BVdb publication page

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A flexible computational pipeline for research analyses of unsolved clinical exome cases.

Npj Genomic Medicine

Lassmann, Timo T; Francis, Richard W RW; Weeks, Alexia A; Tang, Dave D; Jamieson, Sarra E SE; Broley, Stephanie S; Dawkins, Hugh J S HJS; Dreyer, Lauren L; Goldblatt, Jack J; Groza, Tudor T; Kamien, Benjamin B; Kiraly-Borri, Cathy C; McKenzie, Fiona F; Murphy, Lesley L; Pachter, Nicholas N; Pathak, Gargi G; Poulton, Cathryn C; Samanek, Amanda A; Skoss, Rachel R; Slee, Jennie J; Townshend, Sharron S; Ward, Michelle M; Baynam, Gareth S GS; Blackwell, Jenefer M JM

Publication Date: 2020-12-10

Variant appearance in text: rs61753380

PubMed Link: 33303739

Variant Present in the following documents:

• Main text
• 41525_2020_Article_161.pdf
• 41525_2020_161_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Applied precision medicine in metastatic pancreatic ductal adenocarcinoma.

Therapeutic Advances In Medical Oncology

Taghizadeh, Hossein H; Müllauer, Leonhard L; Mader, Robert M RM; Schindl, Martin M; Prager, Gerald W GW

Publication Date: 2020

Variant appearance in text: CREBBP: Ala981Thr

PubMed Link: 32699558

Variant Present in the following documents:

• Main text
• 10.1177_1758835920938611.pdf

View BVdb publication page

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The first malignant primary hepatic glomus tumor: A case report.

International Journal Of Surgery Case Reports

Aversa, John G JG; Monroe, Cara C; Levi, Amelia A; Papanicolau-Sengos, Antonios A; Kleiner, David E DE; Hernandez, Jonathan M JM

Publication Date: 2020

Variant appearance in text: CREBBP: 2941G>A; A981T

PubMed Link: 32422580

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Modeling biological and genetic diversity in upper tract urothelial carcinoma with patient derived xenografts.

Nature Communications

Kim, Kwanghee K; Hu, Wenhuo W; Audenet, François F; Almassi, Nima N; Hanrahan, Aphrothiti J AJ; Murray, Katie K; Bagrodia, Aditya A; Wong, Nathan N; Clinton, Timothy N TN; Dason, Shawn S; Mohan, Vishnu V; Jebiwott, Sylvia S; Nagar, Karan K; Gao, Jianjiong J; Penson, Alex A; Hughes, Chris C; Gordon, Benjamin B; Chen, Ziyu Z; Dong, Yiyu Y; Watson, Philip A PA; Alvim, Ricardo R; Elzein, Arijh A; Gao, Sizhi P SP; Cocco, Emiliano E; Santin, Alessandro D AD; Ostrovnaya, Irina I; Hsieh, James J JJ; Sagi, Irit I; Pietzak, Eugene J EJ; Hakimi, A Ari AA; Rosenberg, Jonathan E JE; Iyer, Gopa G; Vargas, Herbert A HA; Scaltriti, Maurizio M; Al-Ahmadie, Hikmat H; Solit, David B DB; Coleman, Jonathan A JA

Publication Date: 2020-04-24

Variant appearance in text: CREBBP: 2941G>A; A981T

PubMed Link: 32332851

Variant Present in the following documents:

• 41467_2020_15885_MOESM3_ESM.xlsx, sheet 5
• 41467_2020_15885_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: CREBBP: 2941G>A; Ala981Thr

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

View BVdb publication page

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Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications

Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C

Publication Date: 2019-08-30

Variant appearance in text: CREBBP: A981T; rs61753380

PubMed Link: 31470906

Variant Present in the following documents:

• 40478_2019_793_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: rs61753380

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 5

View BVdb publication page

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The impact of RNA sequence library construction protocols on transcriptomic profiling of leukemia.

Bmc Genomics

Kumar, Ashwini A; Kankainen, Matti M; Parsons, Alun A; Kallioniemi, Olli O; Mattila, Pirkko P; Heckman, Caroline A CA

Publication Date: 2017-08-17

Variant appearance in text: CREBBP: A981T; rs61753380

PubMed Link: 28818039

Variant Present in the following documents:

• 12864_2017_4039_MOESM2_ESM.xls, sheet 7

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: CREBBP: 2941G>A; Ala981Thr

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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CREBBP is a target of epigenetic, but not genetic, modification in juvenile myelomonocytic leukemia.

Clinical Epigenetics

Fluhr, Silvia S; Boerries, Melanie M; Busch, Hauke H; Symeonidi, Aikaterini A; Witte, Tania T; Lipka, Daniel B DB; Mücke, Oliver O; Nöllke, Peter P; Krombholz, Christopher Felix CF; Niemeyer, Charlotte M CM; Plass, Christoph C; Flotho, Christian C

Publication Date: 2016

Variant appearance in text: CREBBP: A981T; rs61753380

PubMed Link: 27158276

Variant Present in the following documents:

• 13148_2016_216_MOESM1_ESM.pdf

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs61753380

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.

International Journal Of Molecular Sciences

Yoo, Hee Jeong HJ; Kim, Kyung K; Kim, In Hyang IH; Rho, Seong-Hwan SH; Park, Jong-Eun JE; Lee, Ki Young KY; Kim, Soon Ae SA; Choi, Byung Yoon BY; Kim, Namshin N

Publication Date: 2015-03-11

Variant appearance in text: CREBBP: 2941G>A; Ala981Thr

PubMed Link: 25768348

Variant Present in the following documents:

• ijms-16-05697-s001.pdf

View BVdb publication page

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: CREBBP: A981T; rs61753380

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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