Publications:

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: DNMT3A: I310F; rs774128516

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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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: DNMT3A: 928A>T; Ile310Phe

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

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: DNMT3A: 928A>T; I310F

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: 928A>T; Ile310Phe

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: I310F

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: 928A>T; I310F

PubMed Link: 34092059

Variant Present in the following documents:

• 2021_278990_TOVY_SUPPL.pdf

View BVdb publication page

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Novel DNMT3A Germline Variant in a Patient with Multiple Paragangliomas and Papillary Thyroid Carcinoma.

Cancers

Mellid, Sara S; Coloma, Javier J; Calsina, Bruna B; Monteagudo, María M; Roldán-Romero, Juan M JM; Santos, María M; Leandro-García, Luis J LJ; Lanillos, Javier J; Martínez-Montes, Ángel M ÁM; Rodríguez-Antona, Cristina C; Montero-Conde, Cristina C; Martínez-López, Joaquín J; Ayala, Rosa R; Matias-Guiu, Xavier X; Robledo, Mercedes M; Cascón, Alberto A

Publication Date: 2020-11-09

Variant appearance in text: DNMT3A: 928A>T; Ile310Phe; rs774128516

PubMed Link: 33182397

Variant Present in the following documents:

• cancers-12-03304-s001.pdf

View BVdb publication page

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B-cell acute lymphoblastic leukemia as a secondary malignancy following diffuse large B-cell lymphoma.

Hematology Reports

Gaut, Daria D; Bejjani, Anthony A; Sasine, Joshua J; Schiller, Gary G

Publication Date: 2019-05-23

Variant appearance in text: DNMT3A: 928A>T; I310F

PubMed Link: 31285810

Variant Present in the following documents:

• Main text
• hr-11-2-8100.pdf

View BVdb publication page

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appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)

Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M

Publication Date: 2018-12-15

Variant appearance in text: DNMT3A: 928A>T; Ile310Phe

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s2.xlsx, sheet 9
• bty518_supplementary_data_s6.xlsx, sheet 9

View BVdb publication page

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