Publications:

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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: DNMT3A: 1748G>A; C583Y

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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Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

Genome Medicine

Hamanaka, Kohei K; Miyake, Noriko N; Mizuguchi, Takeshi T; Miyatake, Satoko S; Uchiyama, Yuri Y; Tsuchida, Naomi N; Sekiguchi, Futoshi F; Mitsuhashi, Satomi S; Tsurusaki, Yoshinori Y; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Yamada, Kohei K; Sakamoto, Masamune M; Fukuda, Hiromi H; Ohori, Sachiko S; Saida, Ken K; Itai, Toshiyuki T; Azuma, Yoshiteru Y; Koshimizu, Eriko E; Fujita, Atsushi A; Erturk, Biray B; Hiraki, Yoko Y; Ch'ng, Gaik-Siew GS; Kato, Mitsuhiro M; Okamoto, Nobuhiko N; Takata, Atsushi A; Matsumoto, Naomichi N

Publication Date: 2022-04-26

Variant appearance in text: DNMT3A: 1748G>A; Cys583Tyr

PubMed Link: 35468861

Variant Present in the following documents:

• 13073_2022_1042_MOESM2_ESM.xls, sheet 8

View BVdb publication page

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Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome.

Nature Communications

Smith, Amanda M AM; LaValle, Taylor A TA; Shinawi, Marwan M; Ramakrishnan, Sai M SM; Abel, Haley J HJ; Hill, Cheryl A CA; Kirkland, Nicole M NM; Rettig, Michael P MP; Helton, Nichole M NM; Heath, Sharon E SE; Ferraro, Francesca F; Chen, David Y DY; Adak, Sangeeta S; Semenkovich, Clay F CF; Christian, Diana L DL; Martin, Jenna R JR; Gabel, Harrison W HW; Miller, Christopher A CA; Ley, Timothy J TJ

Publication Date: 2021-07-27

Variant appearance in text: DNMT3A: C583Y

PubMed Link: 34315901

Variant Present in the following documents:

• Main text

View BVdb publication page

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Perturbed hematopoiesis in individuals with germline DNMT3A overgrowth Tatton-Brown-Rahman syndrome.

Haematologica

Tovy, Ayala A; Rosas, Carina C; Gaikwad, Amos S AS; Medrano, Geraldo G; Zhang, Linda L; Reyes, Jaime M JM; Huang, Yung-Hsin YH; Arakawa, Tastuhiko T; Kurtz, Kristen K; Conneely, Shannon E SE; Guzman, Anna G AG; Aguilar, Rogelio R; Gao, Anne A; Chen, Chun-Wei CW; Kim, Jean J JJ; Carter, Melissa T MT; Lasa-Aranzasti, Amaia A; Valenzuela, Irene I; Van Maldergem, Lionel L; Brunetti, Lorenzo L; Hicks, M John MJ; Marcogliese, Andrea N AN; Goodell, Margaret A MA; Rau, Rachel E RE

Publication Date: 2022-04-01

Variant appearance in text: DNMT3A: 1748G>A; C583Y

PubMed Link: 34092059

Variant Present in the following documents:

• 107887.pdf

View BVdb publication page

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: DNMT3A: 1748G>A; C583Y

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Integration of intra-sample contextual error modeling for improved detection of somatic mutations from deep sequencing.

Science Advances

Abelson, Sagi S; Zeng, Andy G X AGX; Nofech-Mozes, Ido I; Wang, Ting Ting TT; Ng, Stanley W K SWK; Minden, Mark D MD; Pugh, Trevor J TJ; Awadalla, Philip P; Shlush, Liran I LI; Murphy, Tracy T; Chan, Steven M SM; Dick, John E JE; Bratman, Scott V SV

Publication Date: 2020-12

Variant appearance in text: DNMT3A: 1748G>A

PubMed Link: 33298453

Variant Present in the following documents:

• abe3722_Table_S9.xlsx, sheet 2

View BVdb publication page

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Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.

Nature Medicine

Durham, Benjamin H BH; Lopez Rodrigo, Estibaliz E; Picarsic, Jennifer J; Abramson, David D; Rotemberg, Veronica V; De Munck, Steven S; Pannecoucke, Erwin E; Lu, Sydney X SX; Pastore, Alessandro A; Yoshimi, Akihide A; Mandelker, Diana D; Ceyhan-Birsoy, Ozge O; Ulaner, Gary A GA; Walsh, Michael M; Yabe, Mariko M; Petrova-Drus, Kseniya K; Arcila, Maria E ME; Ladanyi, Marc M; Solit, David B DB; Berger, Michael F MF; Hyman, David M DM; Lacouture, Mario E ME; Erickson, Caroline C; Saganty, Ruth R; Ki, Michelle M; Dunkel, Ira J IJ; Santa-María López, Vicente V; Mora, Jaume J; Haroche, Julien J; Emile, Jean-Francois JF; Decaux, Olivier O; Geissmann, Frederic F; Savvides, Savvas N SN; Drilon, Alexander A; Diamond, Eli L EL; Abdel-Wahab, Omar O

Publication Date: 2019-12

Variant appearance in text: DNMT3A: 1748G>A

PubMed Link: 31768065

Variant Present in the following documents:

• NIHMS1541330-supplement-1.pdf

View BVdb publication page

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The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

Wellcome Open Research

Tatton-Brown, Katrina K; Zachariou, Anna A; Loveday, Chey C; Renwick, Anthony A; Mahamdallie, Shazia S; Aksglaede, Lise L; Baralle, Diana D; Barge-Schaapveld, Daniela D; Blyth, Moira M; Bouma, Mieke M; Breckpot, Jeroen J; Crabb, Beau B; Dabir, Tabib T; Cormier-Daire, Valerie V; Fauth, Christine C; Fisher, Richard R; Gener, Blanca B; Goudie, David D; Homfray, Tessa T; Hunter, Matthew M; Jorgensen, Agnete A; Kant, Sarina G SG; Kirally-Borri, Cathy C; Koolen, David D; Kumar, Ajith A; Labilloy, Anatalia A; Lees, Melissa M; Marcelis, Carlo C; Mercer, Catherine C; Mignot, Cyril C; Miller, Kathryn K; Neas, Katherine K; Newbury-Ecob, Ruth R; Pilz, Daniela T DT; Posmyk, Renata R; Prada, Carlos C; Ramsey, Keri K; Randolph, Linda M LM; Selicorni, Angelo A; Shears, Deborah D; Suri, Mohnish M; Temple, I Karen IK; Turnpenny, Peter P; Val Maldergem, Lionel L; Varghese, Vinod V; Veenstra-Knol, Hermine E HE; Yachelevich, Naomi N; Yates, Laura L; , ; , ; Rahman, Nazneen N

Publication Date: 2018

Variant appearance in text: DNMT3A: 1748G>A; Cys583Tyr

PubMed Link: 29900417

Variant Present in the following documents:

• Main text
• wellcomeopenres-3-15708.pdf

View BVdb publication page

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Detection of high-frequency and novel DNMT3A mutations in acute myeloid leukemia by high-resolution melting curve analysis.

The Journal Of Molecular Diagnostics : Jmd

Singh, Rajesh R RR; Bains, Ashish A; Patel, Keyur P KP; Rahimi, Hamed H; Barkoh, Bedia A BA; Paladugu, Abhaya A; Bisrat, Tigist T; Ravandi-Kashani, Farhad F; Cortes, Jorge E JE; Kantarjian, Hagop M HM; Medeiros, L Jeffrey LJ; Luthra, Rajyalakshmi R

Publication Date: 2012-07

Variant appearance in text: DNMT3A: C583Y

PubMed Link: 22642896

Variant Present in the following documents:

• Main text

View BVdb publication page

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