Publications:

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Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.

Frontiers In Genetics

Tran Mau-Them, Frédéric F; Delanne, Julian J; Denommé-Pichon, Anne-Sophie AS; Safraou, Hana H; Bruel, Ange-Line AL; Vitobello, Antonio A; Garde, Aurore A; Nambot, Sophie S; Bourgon, Nicolas N; Racine, Caroline C; Sorlin, Arthur A; Moutton, Sébastien S; Marle, Nathalie N; Rousseau, Thierry T; Sagot, Paul P; Simon, Emmanuel E; Vincent-Delorme, Catherine C; Boute, Odile O; Colson, Cindy C; Petit, Florence F; Legendre, Marine M; Naudion, Sophie S; Rooryck, Caroline C; Prouteau, Clément C; Colin, Estelle E; Guichet, Agnès A; Ziegler, Alban A; Bonneau, Dominique D; Morel, Godelieve G; Fradin, Mélanie M; Lavillaureix, Alinoé A; Quelin, Chloé C; Pasquier, Laurent L; Odent, Sylvie S; Vera, Gabriella G; Goldenberg, Alice A; Guerrot, Anne-Marie AM; Brehin, Anne-Claire AC; Putoux, Audrey A; Attia, Jocelyne J; Abel, Carine C; Blanchet, Patricia P; Wells, Constance F CF; Deiller, Caroline C; Nizon, Mathilde M; Mercier, Sandra S; Vincent, Marie M; Isidor, Bertrand B; Amiel, Jeanne J; Dard, Rodolphe R; Godin, Manon M; Gruchy, Nicolas N; Jeanne, Médéric M; Schaeffer, Elise E; Maillard, Pierre-Yves PY; Payet, Frédérique F; Jacquemont, Marie-Line ML; Francannet, Christine C; Sigaudy, Sabine S; Bergot, Marine M; Tisserant, Emilie E; Ascencio, Marie-Laure ML; Binquet, Christine C; Duffourd, Yannis Y; Philippe, Christophe C; Faivre, Laurence L; Thauvin-Robinet, Christel C

Publication Date: 2023

Variant appearance in text: CREBBP: Arg370*

PubMed Link: 37035737

Variant Present in the following documents:

• Main text
• fgene-14-1099995.pdf

View BVdb publication page

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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: CREBBP: 1108C>T; Arg370Ter

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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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: CREBBP: R370X

PubMed Link: 36072793

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age.

Nature Communications

Burkhardt, Birgit B; Michgehl, Ulf U; Rohde, Jonas J; Erdmann, Tabea T; Berning, Philipp P; Reutter, Katrin K; Rohde, Marius M; Borkhardt, Arndt A; Burmeister, Thomas T; Dave, Sandeep S; Tzankov, Alexandar A; Dugas, Martin M; Sandmann, Sarah S; Fend, Falko F; Finger, Jasmin J; Mueller, Stephanie S; Gökbuget, Nicola N; Haferlach, Torsten T; Kern, Wolfgang W; Hartmann, Wolfgang W; Klapper, Wolfram W; Oschlies, Ilske I; Richter, Julia J; Kontny, Udo U; Lutz, Mathias M; Maecker-Kolhoff, Britta B; Ott, German G; Rosenwald, Andreas A; Siebert, Reiner R; von Stackelberg, Arend A; Strahm, Brigitte B; Woessmann, Wilhelm W; Zimmermann, Martin M; Zapukhlyak, Myroslav M; Grau, Michael M; Lenz, Georg G

Publication Date: 2022-07-06

Variant appearance in text: CREBBP: 1108C>T; R370*

PubMed Link: 35794096

Variant Present in the following documents:

• 41467_2022_31355_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

Hgg Advances

Levy, Michael A MA; McConkey, Haley H; Kerkhof, Jennifer J; Barat-Houari, Mouna M; Bargiacchi, Sara S; Biamino, Elisa E; Bralo, María Palomares MP; Cappuccio, Gerarda G; Ciolfi, Andrea A; Clarke, Angus A; DuPont, Barbara R BR; Elting, Mariet W MW; Faivre, Laurence L; Fee, Timothy T; Fletcher, Robin S RS; Cherik, Florian F; Foroutan, Aidin A; Friez, Michael J MJ; Gervasini, Cristina C; Haghshenas, Sadegheh S; Hilton, Benjamin A BA; Jenkins, Zandra Z; Kaur, Simranpreet S; Lewis, Suzanne S; Louie, Raymond J RJ; Maitz, Silvia S; Milani, Donatella D; Morgan, Angela T AT; Oegema, Renske R; Østergaard, Elsebet E; Pallares, Nathalie Ruiz NR; Piccione, Maria M; Pizzi, Simone S; Plomp, Astrid S AS; Poulton, Cathryn C; Reilly, Jack J; Relator, Raissa R; Rius, Rocio R; Robertson, Stephen S; Rooney, Kathleen K; Rousseau, Justine J; Santen, Gijs W E GWE; Santos-Simarro, Fernando F; Schijns, Josephine J; Squeo, Gabriella Maria GM; St John, Miya M; Thauvin-Robinet, Christel C; Traficante, Giovanna G; van der Sluijs, Pleuntje J PJ; Vergano, Samantha A SA; Vos, Niels N; Walden, Kellie K KK; Azmanov, Dimitar D; Balci, Tugce T; Banka, Siddharth S; Gecz, Jozef J; Henneman, Peter P; Lee, Jennifer A JA; Mannens, Marcel M A M MMAM; Roscioli, Tony T; Siu, Victoria V; Amor, David J DJ; Baynam, Gareth G; Bend, Eric G EG; Boycott, Kym K; Brunetti-Pierri, Nicola N; Campeau, Philippe M PM; Christodoulou, John J; Dyment, David D; Esber, Natacha N; Fahrner, Jill A JA; Fleming, Mark D MD; Genevieve, David D; Kerrnohan, Kristin D KD; McNeill, Alisdair A; Menke, Leonie A LA; Merla, Giuseppe G; Prontera, Paolo P; Rockman-Greenberg, Cheryl C; Schwartz, Charles C; Skinner, Steven A SA; Stevenson, Roger E RE; Vitobello, Antonio A; Tartaglia, Marco M; Alders, Marielle M; Tedder, Matthew L ML; Sadikovic, Bekim B

Publication Date: 2022-01-13

Variant appearance in text: CREBBP: 1108C>T; Arg370*

PubMed Link: 35047860

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Postoperative circulating tumor DNA as markers of recurrence risk in stages II to III colorectal cancer.

Journal Of Hematology & Oncology

Chen, Gong G; Peng, Junjie J; Xiao, Qian Q; Wu, Hao-Xiang HX; Wu, Xiaojun X; Wang, Fulong F; Li, Liren L; Ding, Peirong P; Zhao, Qi Q; Li, Yaqi Y; Wang, Da D; Shao, Yang Y; Bao, Hua H; Pan, Zhizhong Z; Ding, Ke-Feng KF; Cai, Sanjun S; Wang, Feng F; Xu, Rui-Hua RH

Publication Date: 2021-05-17

Variant appearance in text: CREBBP: R370*

PubMed Link: 34001194

Variant Present in the following documents:

• 13045_2021_1089_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Somatic alterations and mutational burden are potential predictive factors for metachronous development of early gastric cancer.

Scientific Reports

Sakuta, Kazuhiro K; Sasaki, Yu Y; Abe, Yasuhiko Y; Sato, Hidenori H; Shoji, Masakuni M; Yaoita, Takao T; Yagi, Makoto M; Mizumoto, Naoko N; Onozato, Yusuke Y; Kon, Takashi T; Koseki, Ayumi A; Sato, Sonoko S; Murakami, Ryoko R; Miyano, Yuki Y; Ueno, Yoshiyuki Y

Publication Date: 2020-12-16

Variant appearance in text: CREBBP: R370X

PubMed Link: 33328548

Variant Present in the following documents:

• 41598_2020_79195_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology

Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N

Publication Date: 2020

Variant appearance in text: CREBBP: 1108C>T; R370*

PubMed Link: 32373528

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Distinct age-associated molecular profiles in acute myeloid leukemia defined by comprehensive clinical genomic profiling.

Oncotarget

Tarlock, Katherine K; Zhong, Shan S; He, Yuting Y; Ries, Rhonda R; Severson, Eric E; Bailey, Mark M; Morley, Samantha S; Balasubramanian, Sohail S; Erlich, Rachel R; Lipson, Doron D; Otto, Geoff A GA; Vergillo, Jo-Anne JA; Kolb, E Anders EA; Ross, Jeffrey S JS; Mughal, Tariq T; Stephens, Philip J PJ; Miller, Vincent V; Meshinchi, Soheil S; He, Jie J

Publication Date: 2018-05-29

Variant appearance in text: CREBBP: 1108C>T; R370*

PubMed Link: 29899868

Variant Present in the following documents:

• oncotarget-09-26417-s005.xlsx, 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: 1108C>T; Arg370X

PubMed Link: 25768348

Variant Present in the following documents:

• ijms-16-05697-s001.pdf

View BVdb publication page

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Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma.

Nature

Morin, Ryan D RD; Mendez-Lago, Maria M; Mungall, Andrew J AJ; Goya, Rodrigo R; Mungall, Karen L KL; Corbett, Richard D RD; Johnson, Nathalie A NA; Severson, Tesa M TM; Chiu, Readman R; Field, Matthew M; Jackman, Shaun S; Krzywinski, Martin M; Scott, David W DW; Trinh, Diane L DL; Tamura-Wells, Jessica J; Li, Sa S; Firme, Marlo R MR; Rogic, Sanja S; Griffith, Malachi M; Chan, Susanna S; Yakovenko, Oleksandr O; Meyer, Irmtraud M IM; Zhao, Eric Y EY; Smailus, Duane D; Moksa, Michelle M; Chittaranjan, Suganthi S; Rimsza, Lisa L; Brooks-Wilson, Angela A; Spinelli, John J JJ; Ben-Neriah, Susana S; Meissner, Barbara B; Woolcock, Bruce B; Boyle, Merrill M; McDonald, Helen H; Tam, Angela A; Zhao, Yongjun Y; Delaney, Allen A; Zeng, Thomas T; Tse, Kane K; Butterfield, Yaron Y; Birol, Inanç I; Holt, Rob R; Schein, Jacqueline J; Horsman, Douglas E DE; Moore, Richard R; Jones, Steven J M SJ; Connors, Joseph M JM; Hirst, Martin M; Gascoyne, Randy D RD; Marra, Marco A MA

Publication Date: 2011-07-27

Variant appearance in text: CREBBP: R370*

PubMed Link: 21796119

Variant Present in the following documents:

View BVdb publication page

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Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

Bmc Medical Genetics

Bentivegna, Angela A; Milani, Donatella D; Gervasini, Cristina C; Castronovo, Paola P; Mottadelli, Federica F; Manzini, Stefano S; Colapietro, Patrizia P; Giordano, Lucio L; Atzeri, Francesca F; Divizia, Maria T MT; Uzielli, Maria L Giovannucci ML; Neri, Giovanni G; Bedeschi, Maria F MF; Faravelli, Francesca F; Selicorni, Angelo A; Larizza, Lidia L

Publication Date: 2006-10-19

Variant appearance in text: CREBBP: 1108C>T

PubMed Link: 17052327

Variant Present in the following documents:

• Main text
• 1471-2350-7-77.pdf

View BVdb publication page

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