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: TG: 2335G>A

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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Disclosing azole resistance mechanisms in resistant Candida glabrata strains encoding wild-type or gain-of-function CgPDR1 alleles through comparative genomics and transcriptomics.

G3 (Bethesda, Md.)

Salazar, Sara B SB; Pinheiro, Maria Joana F MJF; Sotti-Novais, Danielle D; Soares, Ana R AR; Lopes, Maria M MM; Ferreira, Teresa T; Rodrigues, Vitória V; Fernandes, Fábio F; Mira, Nuno P NP

Publication Date: 2022-07-06

Variant appearance in text: TG: 2335G>A

PubMed Link: 35532173

Variant Present in the following documents:

• jkac110_supplementary_material.xlsx, sheet 10

View BVdb publication page

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Genotype and phenotype correlation in a cohort of Chinese congenital hypothyroidism patients with DUOX2 mutations.

Annals Of Translational Medicine

Zheng, Zhangqian Z; Yang, Lin L; Sun, Chengjun C; Wu, Jing J; Luo, Feihong F; Zhou, Wenhao W; Lu, Wei W

Publication Date: 2020-12

Variant appearance in text: TG: 2335G>A

PubMed Link: 33490161

Variant Present in the following documents:

• Main text
• atm-08-24-1649.pdf

View BVdb publication page

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Mutational Spectrum Analysis of Seven Genes Associated with Thyroid Dyshormonogenesis.

International Journal Of Endocrinology

Chen, Xi X; Kong, Xiaohong X; Zhu, Jie J; Zhang, Tingting T; Li, Yanwei Y; Ding, Guifeng G; Wang, Huijuan H

Publication Date: 2018

Variant appearance in text: TG: 2335G>A

PubMed Link: 30154845

Variant Present in the following documents:

• IJE2018-8986475.pdf

View BVdb publication page

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: TG: 2335G>A; E779K

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s002.xlsx, sheet 1

View BVdb publication page

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Compound heterozygous mutation of Rag1 leading to Omenn syndrome.

Plos One

Matthews, Adam G W AG; Briggs, Christine E CE; Yamanaka, Keiichi K; Small, Trudy N TN; Mooster, Jana L JL; Bonilla, Francisco A FA; Oettinger, Marjorie A MA; Butte, Manish J MJ

Publication Date: 2015

Variant appearance in text: TG: 2335G>A

PubMed Link: 25849362

Variant Present in the following documents:

• pone.0121489.pdf

View BVdb publication page

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: TG: 2335G>A

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

View BVdb publication page

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