Publications:

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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: CREBBP: 3832G>A; Glu1278Lys

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

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The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders.

Frontiers In Genetics

Mellone, Simona S; Puricelli, Chiara C; Vurchio, Denise D; Ronzani, Sara S; Favini, Simone S; Maruzzi, Arianna A; Peruzzi, Cinzia C; Papa, Amanda A; Spano, Alice A; Sirchia, Fabio F; Mandrile, Giorgia G; Pelle, Alessandra A; Rasmini, Paolo P; Vercellino, Fabiana F; Zonta, Andrea A; Rabbone, Ivana I; Dianzani, Umberto U; Viri, Maurizio M; Giordano, Mara M

Publication Date: 2022

Variant appearance in text: rs267606752

PubMed Link: 36035117

Variant Present in the following documents:

• Table3.xlsx, sheet 1
• Table2.pdf

View BVdb publication page

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: CREBBP: 3832G>A; E1278K

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

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: 3832G>A; Glu1278Lys

PubMed Link: 35047860

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research

Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H

Publication Date: 2022-01

Variant appearance in text: CREBBP: E1278K

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

View BVdb publication page

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Molecular profiling of basal cell carcinomas in young patients.

Bmc Medical Genomics

Abi Karam, Marc M; Kourie, Hampig Raphael HR; Jalkh, Nadine N; Mehawej, Cybel C; Kesrouani, Carole C; Haddad, Fady Gh FG; Feghaly, Iman I; Chouery, Eliane E; Tomb, Roland R

Publication Date: 2021-07-20

Variant appearance in text: CREBBP: 3832G>A; Glu1278Lys

PubMed Link: 34284772

Variant Present in the following documents:

• 12920_2021_1030_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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RNA sequencing as an alternative tool for detecting measurable residual disease in core-binding factor acute myeloid leukemia.

Scientific Reports

Kim, TaeHyung T; Moon, Joon Ho JH; Ahn, Jae-Sook JS; Ahn, Seo-Yeon SY; Jung, Sung-Hoon SH; Yang, Deok-Hwan DH; Lee, Je-Jung JJ; Shin, Myung-Geun MG; Choi, Seung Hyun SH; Lee, Ja-Yeon JY; Tyndel, Marc S MS; Lee, Hui Young HY; Kim, Kyoung Ha KH; Cai, Yu Y; Lee, Yoo Jin YJ; Sohn, Sang Kyun SK; Min, Yoo Hong YH; Cheong, June-Won JW; Kim, Hyeoung-Joon HJ; Zhang, Zhaolei Z; Kim, Dennis Dong Hwan DDH

Publication Date: 2020-11-18

Variant appearance in text: CREBBP: E1278K

PubMed Link: 33208771

Variant Present in the following documents:

• 41598_2020_76933_MOESM8_ESM.xlsx, sheet 4

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: CREBBP: 3832G>A; E1278K

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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Clinically relevant molecular subtypes and genomic alteration-independent differentiation in gynecologic carcinosarcoma.

Nature Communications

Gotoh, Osamu O; Sugiyama, Yuko Y; Takazawa, Yutaka Y; Kato, Kazuyoshi K; Tanaka, Norio N; Omatsu, Kohei K; Takeshima, Nobuhiro N; Nomura, Hidetaka H; Hasegawa, Kosei K; Fujiwara, Keiichi K; Taki, Mana M; Matsumura, Noriomi N; Noda, Tetsuo T; Mori, Seiichi S

Publication Date: 2019-10-31

Variant appearance in text: CREBBP: E1278K

PubMed Link: 31672974

Variant Present in the following documents:

• 41467_2019_12985_MOESM8_ESM.xlsx, sheet 1

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: CREBBP: Glu1278Lys

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: CREBBP: 3832G>A; Glu1278Lys

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: CREBBP: 3832G>A; Glu1278Lys

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology

Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I

Publication Date: 2018-07

Variant appearance in text: CREBBP: 3832G>A; E1278K

PubMed Link: 29604063

Variant Present in the following documents:

• PATH-245-283-s022.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: CREBBP: 3832G>A; Glu1278Lys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: 3832G>A; Glu1278Lys

PubMed Link: 25768348

Variant Present in the following documents:

• ijms-16-05697-s001.pdf

View BVdb publication page

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Epigenetic mechanisms of Rubinstein-Taybi syndrome.

Neuromolecular Medicine

Park, Elizabeth E; Kim, Yunha Y; Ryu, Hyun H; Kowall, Neil W NW; Lee, Junghee J; Ryu, Hoon H

Publication Date: 2014-03

Variant appearance in text: CREBBP: E1278K

PubMed Link: 24381114

Variant Present in the following documents:

• Main text

View BVdb publication page

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Development of neurodevelopmental disorders: a regulatory mechanism involving bromodomain-containing proteins.

Journal Of Neurodevelopmental Disorders

Li, Junlin J; Zhao, Guifang G; Gao, Xiaocai X

Publication Date: 2013-02-20

Variant appearance in text: KAT3A: E1278K

PubMed Link: 23425632

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.

American Journal Of Human Genetics

Roelfsema, Jeroen H JH; White, Stefan J SJ; Ariyürek, Yavuz Y; Bartholdi, Deborah D; Niedrist, Dunja D; Papadia, Francesco F; Bacino, Carlos A CA; den Dunnen, Johan T JT; van Ommen, Gert-Jan B GJ; Breuning, Martijn H MH; Hennekam, Raoul C RC; Peters, Dorien J M DJ

Publication Date: 2005-04

Variant appearance in text: RSTS: E1278K

PubMed Link: 15706485

Variant Present in the following documents:

• Main text

View BVdb publication page

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