Publications:

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: TET2: 4172G>A

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

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Full spectrum of clonal haematopoiesis-driver mutations in chronic heart failure and their associations with mortality.

Esc Heart Failure

Kiefer, Katharina C KC; Cremer, Sebastian S; Pardali, Evangelia E; Assmus, Birgit B; Abou-El-Ardat, Khalil K; Kirschbaum, Klara K; Dorsheimer, Lena L; Rasper, Tina T; Berkowitsch, Alexander A; Serve, Hubert H; Dimmeler, Stefanie S; Zeiher, Andreas M AM; Rieger, Michael A MA

Publication Date: 2021-06

Variant appearance in text: TET2: 4172G>A; G1391D

PubMed Link: 33779075

Variant Present in the following documents:

• EHF2-8-1873-s002.xlsx, sheet 1

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Genomic Analysis Reveals Novel Specific Metastatic Mutations in Chinese Clear Cell Renal Cell Carcinoma.

Biomed Research International

Meng, Hui H; Jiang, Xuewen X; Cui, Jianfeng J; Yin, Gang G; Shi, Benkang B; Liu, Qi Q; Xuan, He H; Wang, Yu Y

Publication Date: 2020

Variant appearance in text: TET2: G1391D

PubMed Link: 33062672

Variant Present in the following documents:

• 2495157.f1.xlsx, sheet 4

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Whole-genome analysis uncovers recurrent IKZF1 inactivation and aberrant cell adhesion in blastic plasmacytoid dendritic cell neoplasm.

Genes, Chromosomes & Cancer

Bastidas Torres, Armando N AN; Cats, Davy D; Mei, Hailiang H; Fanoni, Daniele D; Gliozzo, Jessica J; Corti, Laura L; Paulli, Marco M; Vermeer, Maarten H MH; Willemze, Rein R; Berti, Emilio E; Tensen, Cornelis P CP

Publication Date: 2020-05

Variant appearance in text: TET2: 4172G>A; G1391D

PubMed Link: 31846142

Variant Present in the following documents:

• GCC-59-295-s002.xlsx, sheet 12

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Distinct evolution and dynamics of epigenetic and genetic heterogeneity in acute myeloid leukemia.

Nature Medicine

Li, Sheng S; Garrett-Bakelman, Francine E FE; Chung, Stephen S SS; Sanders, Mathijs A MA; Hricik, Todd T; Rapaport, Franck F; Patel, Jay J; Dillon, Richard R; Vijay, Priyanka P; Brown, Anna L AL; Perl, Alexander E AE; Cannon, Joy J; Bullinger, Lars L; Luger, Selina S; Becker, Michael M; Lewis, Ian D ID; To, Luen Bik LB; Delwel, Ruud R; Löwenberg, Bob B; Döhner, Hartmut H; Döhner, Konstanze K; Guzman, Monica L ML; Hassane, Duane C DC; Roboz, Gail J GJ; Grimwade, David D; Valk, Peter J M PJ; D'Andrea, Richard J RJ; Carroll, Martin M; Park, Christopher Y CY; Neuberg, Donna D; Levine, Ross R; Melnick, Ari M AM; Mason, Christopher E CE

Publication Date: 2016-07

Variant appearance in text: TET2: G1391D

PubMed Link: 27322744

Variant Present in the following documents:

• NIHMS786454-supplement-7.xlsx, sheet 1

View BVdb publication page