Publications:

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Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.

Bmc Medical Genomics

Cannon, S S; Williams, M M; Gunning, A C AC; Wright, C F CF

Publication Date: 2023-02-28

Variant appearance in text: DNMT3A: 2255_2257del; Phe752del

PubMed Link: 36855133

Variant Present in the following documents:

• 12920_2023_1454_MOESM2_ESM.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: 2255_2257del; F752del

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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Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics

Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS

Publication Date: 2022-08

Variant appearance in text: DNMT3A: F752del

PubMed Link: 35835912

Variant Present in the following documents:

• 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Clonal hematopoiesis of indeterminate potential-related epigenetic age acceleration correlates with clonal hematopoiesis of indeterminate potential clone size in patients with high morbidity.

Haematologica

Feldkamp, Jasper David JD; Vetter, Valentin Max VM; Arends, Christopher Maximilian CM; Lang, Tonio Johannes Lukas TJL; Bullinger, Lars L; Damm, Frederik F; Demuth, Ilja I; Frick, Mareike M

Publication Date: 2022-07-01

Variant appearance in text: DNMT3A: 2255_2257del; Phe752del

PubMed Link: 35236052

Variant Present in the following documents:

• 2021_280021_FELDKAMP_SUPPL.pdf

View BVdb publication page

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Acquired somatic variants in inherited myeloid malignancies.

Leukemia

Armes, Hannah H; Rio-Machin, Ana A; Krizsán, Szilvia S; Bödör, Csaba C; Kaya, Fadimana F; Bewicke-Copley, Findlay F; Alnajar, Jenna J; Walne, Amanda A; Péterffy, Borbála B; Tummala, Hemanth H; Rouault-Pierre, Kevin K; Dokal, Inderjeet I; Vulliamy, Tom T; Fitzgibbon, Jude J

Publication Date: 2022-05

Variant appearance in text: DNMT3A: F752del

PubMed Link: 35140362

Variant Present in the following documents:

• 41375_2022_1515_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Association of clonal hematopoiesis with chronic obstructive pulmonary disease.

Blood

Miller, Peter G PG; Qiao, Dandi D; Rojas-Quintero, Joselyn J; Honigberg, Michael C MC; Sperling, Adam S AS; Gibson, Christopher J CJ; Bick, Alexander G AG; Niroula, Abhishek A; McConkey, Marie E ME; Sandoval, Brittany B; Miller, Brian C BC; Shi, Weiwei W; Viswanathan, Kaushik K; Leventhal, Matthew M; Werner, Lillian L; Moll, Matthew M; Cade, Brian E BE; Barr, R Graham RG; Correa, Adolfo A; Cupples, L Adrienne LA; Gharib, Sina A SA; Jain, Deepti D; Gogarten, Stephanie M SM; Lange, Leslie A LA; London, Stephanie J SJ; Manichaikul, Ani A; O'Connor, George T GT; Oelsner, Elizabeth C EC; Redline, Susan S; Rich, Stephen S SS; Rotter, Jerome I JI; Ramachandran, Vasan V; Yu, Bing B; Sholl, Lynette L; Neuberg, Donna D; Jaiswal, Siddhartha S; Levy, Bruce D BD; Owen, Caroline A CA; Natarajan, Pradeep P; Silverman, Edwin K EK; van Galen, Peter P; Tesfaigzi, Yohannes Y; Cho, Michael H MH; Ebert, Benjamin L BL; ,

Publication Date: 2022-01-20

Variant appearance in text: DNMT3A: F752del

PubMed Link: 34855941

Variant Present in the following documents:

• 10.1182-2021013531_bloodbld2021013531-suppl1.pdf
• bloodBLD2021013531-suppl1.pdf

View BVdb publication page

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Unique ethnic features of DDX41 mutations in patients with idiopathic cytopenia of undetermined significance, myelodysplastic syndrome, or acute myeloid leukemia.

Haematologica

Choi, Eun-Ji EJ; Cho, Young-Uk YU; Hur, Eun-Hye EH; Jang, Seongsoo S; Kim, Nayoung N; Park, Han-Seung HS; Lee, Jung-Hee JH; Lee, Kyoo-Hyung KH; Kim, Si-Hwan SH; Hwang, Sang-Hyun SH; Seo, Eul-Ju EJ; Park, Chan-Jeoung CJ; Lee, Je-Hwan JH

Publication Date: 2022-02-01

Variant appearance in text: DNMT3A: F752del

PubMed Link: 33626862

Variant Present in the following documents:

• 2020_270553_CHOI_SUPPL.pdf

View BVdb publication page

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Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.

Genome Research

Jeffries, Aaron R AR; Maroofian, Reza R; Salter, Claire G CG; Chioza, Barry A BA; Cross, Harold E HE; Patton, Michael A MA; Dempster, Emma E; Temple, I Karen IK; Mackay, Deborah J G DJG; Rezwan, Faisal I FI; Aksglaede, Lise L; Baralle, Diana D; Dabir, Tabib T; Hunter, Matthew F MF; Kamath, Arveen A; Kumar, Ajith A; Newbury-Ecob, Ruth R; Selicorni, Angelo A; Springer, Amanda A; Van Maldergem, Lionel L; Varghese, Vinod V; Yachelevich, Naomi N; Tatton-Brown, Katrina K; Mill, Jonathan J; Crosby, Andrew H AH; Baple, Emma L EL

Publication Date: 2019-07

Variant appearance in text: DNMT3A: 2255_2257delTCT; Phe752del

PubMed Link: 31160375

Variant Present in the following documents:

• 1057.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: 2255_2257delTCT

PubMed Link: 29900417

Variant Present in the following documents:

• Main text
• wellcomeopenres-3-15708.pdf

View BVdb publication page

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Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

American Journal Of Human Genetics

Tatton-Brown, Katrina K; Loveday, Chey C; Yost, Shawn S; Clarke, Matthew M; Ramsay, Emma E; Zachariou, Anna A; Elliott, Anna A; Wylie, Harriet H; Ardissone, Anna A; Rittinger, Olaf O; Stewart, Fiona F; Temple, I Karen IK; Cole, Trevor T; , ; Mahamdallie, Shazia S; Seal, Sheila S; Ruark, Elise E; Rahman, Nazneen N

Publication Date: 2017-05-04

Variant appearance in text: DNMT3A: 2255_2257delTCT; Phe752del

PubMed Link: 28475857

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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