Publications:

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: rs3810950

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: CHAT: A120T; rs3810950

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: CHAT: A120T

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: CHAT: A120T; rs3810950

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Mutations in SORL1 and MTHFDL1 possibly contribute to the development of Alzheimer's disease in a multigenerational Colombian Family.

Plos One

Tejada Moreno, Johanna Alexandra JA; Villegas Lanau, Andrés A; Madrigal Zapata, Lucia L; Baena Pineda, Ana Yulied AY; Velez Hernandez, Juan J; Campo Nieto, Omer O; Soto Ospina, Alejandro A; Araque Marín, Pedronel P; Rishishwar, Lavanya L; Norris, Emily T ET; Chande, Aroon T AT; Jordan, I King IK; Bedoya Berrio, Gabriel G

Publication Date: 2022

Variant appearance in text: rs3810950

PubMed Link: 35905044

Variant Present in the following documents:

• Main text
• pone.0269955.pdf

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs3810950

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: CHAT: 358G>A; A120T; rs3810950

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 3

View BVdb publication page

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Influence of a genetic variant of CHAT gene over the profile of plasma soluble ChAT in Alzheimer disease.

Genetics And Molecular Biology

Rocha-Dias, Patricia Fernanda PF; Simao-Silva, Daiane Priscila DP; Silva, Saritha Suellen Lopes da SSLD; Piovezan, Mauro Roberto MR; Souza, Ricardo Krause M RKM; Darreh-Shori, Taher T; Furtado-Alle, Lupe L; Souza, Ricardo Lehtonen Rodrigues RLR

Publication Date: 2020

Variant appearance in text: rs3810950

PubMed Link: 33306773

Variant Present in the following documents:

• Main text
• 1415-4757-GMB-43-4-e20190404.pdf

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: CHAT: A120T; rs3810950

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Advanced stratification analyses in molecular association meta-analysis: methodology and application.

Bmc Medical Research Methodology

Lin, Shuhuang S; Ma, Yukun Y; Huang, Zunnan Z

Publication Date: 2020-06-08

Variant appearance in text: rs3810950

PubMed Link: 32513119

Variant Present in the following documents:

• 12874_2020_Article_1020.pdf

View BVdb publication page

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Stratified meta-analysis by ethnicity revealed that ADRB3 Trp64Arg polymorphism was associated with coronary artery disease in Asians, but not in Caucasians.

Medicine

Chen, Yingjian Y; Liao, Yuanjun Y; Sun, Shengnan S; Lin, Fan F; Li, Rang R; Lan, Shujin S; Zhao, Xiaolei X; Qin, Jiheng J; Rao, Shaoqi S

Publication Date: 2020-01

Variant appearance in text: rs3810950

PubMed Link: 31977906

Variant Present in the following documents:

• medi-99-e18914.pdf

View BVdb publication page

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: CHAT: A120T

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: CHAT: 358G>A; Ala120Thr; rs3810950

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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No Hot Spot Mutations CHRNE c.1327 delG, CHAT c.914T>C, and RAPSN c.264C>A in Iranian Patients with Congenital Myasthenic Syndrome.

Iranian Journal Of Child Neurology

Parvizi Omran, Sima S; Houshmand, Massod M; Dominic, Donkor D; Farjami, Zahra Z; Karimzadeh, Parvaneh P

Publication Date: 2019

Variant appearance in text: CHAT: 358G>A; A120T; rs3810950

PubMed Link: 31037086

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effect of genetic polymorphisms on Alzheimer's disease treatment outcomes: an update.

Clinical Interventions In Aging

Sumirtanurdin, Riyadi R; Thalib, Amirah Y AY; Cantona, Kelvin K; Abdulah, Rizky R

Publication Date: 2019

Variant appearance in text: rs3810950

PubMed Link: 30992661

Variant Present in the following documents:

• Main text
• cia-14-631.pdf

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: CHAT: 358G>A; Ala120Thr

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: rs3810950

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 8

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: CHAT: A120T

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: CHAT: A120T; rs3810950

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: CHAT: A120T; rs3810950

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Cholinergic Pathway SNPs and Postural Control in 477 Older Adults.

Frontiers In Aging Neuroscience

Arnold, Carina C; Schulte, Claudia C; Moscovich, Mariana M; Sünkel, Ulrike U; Zaunbrecher, Laura L; Metzger, Florian F; Gasser, Thomas T; Eschweiler, Gerhard W GW; Hauser, Ann-Kathrin AK; Berg, Daniela D; Maetzler, Walter W

Publication Date: 2018

Variant appearance in text: rs3810950

PubMed Link: 30233352

Variant Present in the following documents:

• Main text
• fnagi-10-00260.pdf

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: CHAT: 358G>A; A120T; rs3810950

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 3
• MGG3-6-739-s002.xlsx, sheet 2
• MGG3-6-739-s002.xlsx, sheet 6

View BVdb publication page

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CHAT gene polymorphism rs3810950 is associated with the risk of Alzheimer's disease in the Czech population.

Journal Of Biomedical Science

Hálová, Alice A; Janoutová, Jana J; Ewerlingová, Laura L; Janout, Vladimír V; Bonczek, Ondřej O; Zeman, Tomáš T; Gerguri, Tereza T; Balcar, Vladimir J VJ; Šerý, Omar O

Publication Date: 2018-05-14

Variant appearance in text: CHAT: A120T; rs3810950

PubMed Link: 29759072

Variant Present in the following documents:

• Main text
• 12929_2018_Article_444.pdf

View BVdb publication page

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Controlling for confounding factors and revealing their interactions in genetic association meta-analyses: a computing method and application for stratification analyses.

Oncotarget

Lin, Shuhuang S; Liu, Xu X; Yao, Bin B; Huang, Zunnan Z

Publication Date: 2018-02-23

Variant appearance in text: rs3810950

PubMed Link: 29552297

Variant Present in the following documents:

• Main text
• oncotarget-09-12125.pdf

View BVdb publication page

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EXOC3L2 rs597668 variant contributes to Alzheimer's disease susceptibility in Asian population.

Oncotarget

Wu, Qing-Jian QJ; Sun, Shu-Yin SY; Yan, Cheng-Jun CJ; Cheng, Zi-Cui ZC; Yang, Ming-Feng MF; Li, Zi-Fei ZF; Cheng, Hou-Wen HW; Fang, Ti-Kun TK

Publication Date: 2017-03-21

Variant appearance in text: rs3810950

PubMed Link: 28423615

Variant Present in the following documents:

• oncotarget-08-20086.pdf

View BVdb publication page

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Genetic Association of CHAT rs3810950 and rs2177369 Polymorphisms with the Risk of Alzheimer's Disease: A Meta-Analysis.

Biomed Research International

Liu, Yong Y; Chen, Qicong Q; Liu, Xu X; Dou, Mengmeng M; Li, Silu S; Zhou, Jiahui J; Liu, Hong H; Wu, Yongfu Y; Huang, Zunnan Z

Publication Date: 2016

Variant appearance in text: rs3810950

PubMed Link: 27597977

Variant Present in the following documents:

• Main text
• BMRI2016-9418163.pdf

View BVdb publication page

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Association of Choline Acetyltransferase Gene Polymorphisms (SNPs rs868750G/A, rs1880676G/A, rs2177369G/A and rs3810950G/A) with Alzheimer's Disease Risk: A Meta-Analysis.

Plos One

Yuan, Hai H; Xia, Qing Q; Ling, Kang K; Wang, Xiaotong X; Wang, Xiumin X; Du, Xunping X

Publication Date: 2016

Variant appearance in text: CHAT: Ala120Thr; rs3810950

PubMed Link: 27390868

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clonal relationships between lobular carcinoma in situ and other breast malignancies.

Breast Cancer Research : Bcr

Begg, Colin B CB; Ostrovnaya, Irina I; Carniello, Jose V Scarpa JV; Sakr, Rita A RA; Giri, Dilip D; Towers, Russell R; Schizas, Michail M; De Brot, Marina M; Andrade, Victor P VP; Mauguen, Audrey A; Seshan, Venkatraman E VE; King, Tari A TA

Publication Date: 2016-06-23

Variant appearance in text: CHAT: A120T

PubMed Link: 27334989

Variant Present in the following documents:

• 13058_2016_727_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Polymorphisms of CHAT but not TFAM or VR22 are Associated with Alzheimer Disease Risk.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Gao, Lili L; Zhang, Yan Y; Deng, Jinghua J; Yu, Wenbing W; Yu, Yunxia Y

Publication Date: 2016-06-07

Variant appearance in text: rs3810950

PubMed Link: 27272392

Variant Present in the following documents:

• Main text
• medscimonit-22-1924.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs3810950

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: CHAT: A120T; rs3810950

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2
• mmc3.xlsx, sheet 1

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: CHAT: A120T; rs3810950

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Nature Communications

Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES

Publication Date: 2015-04-09

Variant appearance in text: CHAT: A120T; rs3810950

PubMed Link: 25855536

Variant Present in the following documents:

• ncomms7744-s2.xlsx, sheet 1

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: CHAT: A120T; rs3810950

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s2.xls, sheet 1
• srep09124-s3.xls, sheet 1

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: CHAT: A120T

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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The contribution of rare and common variants in 30 genes to risk nicotine dependence.

Molecular Psychiatry

Yang, J J; Wang, S S; Yang, Z Z; Hodgkinson, C A CA; Iarikova, P P; Ma, J Z JZ; Payne, T J TJ; Goldman, D D; Li, M D MD

Publication Date: 2015-11

Variant appearance in text: CHAT: A120T; rs3810950

PubMed Link: 25450229

Variant Present in the following documents:

• Main text
• nihms634433.pdf

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: CHAT: A120T; rs3810950

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.

Nature Genetics

Buczkowicz, Pawel P; Hoeman, Christine C; Rakopoulos, Patricia P; Pajovic, Sanja S; Letourneau, Louis L; Dzamba, Misko M; Morrison, Andrew A; Lewis, Peter P; Bouffet, Eric E; Bartels, Ute U; Zuccaro, Jennifer J; Agnihotri, Sameer S; Ryall, Scott S; Barszczyk, Mark M; Chornenkyy, Yevgen Y; Bourgey, Mathieu M; Bourque, Guillaume G; Montpetit, Alexandre A; Cordero, Francisco F; Castelo-Branco, Pedro P; Mangerel, Joshua J; Tabori, Uri U; Ho, King Ching KC; Huang, Annie A; Taylor, Kathryn R KR; Mackay, Alan A; Bendel, Anne E AE; Nazarian, Javad J; Fangusaro, Jason R JR; Karajannis, Matthias A MA; Zagzag, David D; Foreman, Nicholas K NK; Donson, Andrew A; Hegert, Julia V JV; Smith, Amy A; Chan, Jennifer J; Lafay-Cousin, Lucy L; Dunn, Sandra S; Hukin, Juliette J; Dunham, Chris C; Scheinemann, Katrin K; Michaud, Jean J; Zelcer, Shayna S; Ramsay, David D; Cain, Jason J; Brennan, Cameron C; Souweidane, Mark M MM; Jones, Chris C; Allis, C David CD; Brudno, Michael M; Becher, Oren O; Hawkins, Cynthia C

Publication Date: 2014-05

Variant appearance in text: CHAT: A120T

PubMed Link: 24705254

Variant Present in the following documents:

• NIHMS4215-supplement-10.xlsx, sheet 2

View BVdb publication page

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Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

Peerj

O'Rawe, Jason A JA; Fang, Han H; Rynearson, Shawn S; Robison, Reid R; Kiruluta, Edward S ES; Higgins, Gerald G; Eilbeck, Karen K; Reese, Martin G MG; Lyon, Gholson J GJ

Publication Date: 2013

Variant appearance in text: rs3810950

PubMed Link: 24109560

Variant Present in the following documents:

• peerj-01-177-s012.xlsx, sheet 1
• peerj-01-177-s013.xlsx, sheet 1

View BVdb publication page

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Association study of candidate gene polymorphisms with amnestic mild cognitive impairment in a Chinese population.

Plos One

Liu, Xiaoyan X; Yue, Chunxian C; Xu, Zhi Z; Shu, Hao H; Pu, Mengjia M; Yu, Hui H; Shi, Yongmei Y; Zhuang, Liying L; Xu, Xiaohui X; Zhang, Zhijun Z

Publication Date: 2012

Variant appearance in text: rs3810950

PubMed Link: 22911757

Variant Present in the following documents:

• Main text
• pone.0041198.pdf

View BVdb publication page

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Genetic variants in the choline acetyltransferase (ChAT) gene are modestly associated with normal cognitive function in the elderly.

Genes, Brain, And Behavior

Mengel-From, J J; Christensen, K K; Thinggaard, M M; McGue, M M; Christiansen, L L

Publication Date: 2011-11

Variant appearance in text: rs3810950

PubMed Link: 21883924

Variant Present in the following documents:

• Main text

View BVdb publication page

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Replication and extension of association of choline acetyltransferase with nicotine dependence in European and African American smokers.

Human Genetics

Wei, Jinxue J; Ma, Jennie Z JZ; Payne, Thomas J TJ; Cui, Wenyan W; Ray, Riju R; Mitra, Nandita N; Lerman, Caryn C; Li, Ming D MD

Publication Date: 2010-06

Variant appearance in text: rs3810950

PubMed Link: 20383528

Variant Present in the following documents:

• Main text

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Convergent evidence that choline acetyltransferase gene variation is associated with prospective smoking cessation and nicotine dependence.

Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology

Ray, Riju R; Mitra, Nandita N; Baldwin, Don D; Guo, Mengye M; Patterson, Freda F; Heitjan, Daniel F DF; Jepson, Christopher C; Wileyto, E Paul EP; Wei, Jinxue J; Payne, Thomas T; Ma, Jennie Z JZ; Li, Ming D MD; Lerman, Caryn C

Publication Date: 2010-05

Variant appearance in text: rs3810950

PubMed Link: 20147892

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Congenital myasthenic syndrome with episodic apnea.

Pediatric Neurology

Mallory, Leah A LA; Shaw, James G JG; Burgess, Stephanie L SL; Estrella, Elicia E; Nurko, Samuel S; Burpee, Tyler M TM; Agus, Michael S MS; Darras, Basil T BT; Kunkel, Louis M LM; Kang, Peter B PB

Publication Date: 2009-07

Variant appearance in text: CHAT: 358G>A; A120T

PubMed Link: 19520274

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Combining fMRI and SNP data to investigate connections between brain function and genetics using parallel ICA.

Human Brain Mapping

Liu, Jingyu J; Pearlson, Godfrey G; Windemuth, Andreas A; Ruano, Gualberto G; Perrone-Bizzozero, Nora I NI; Calhoun, Vince V

Publication Date: 2009-01

Variant appearance in text: rs3810950

PubMed Link: 18072279

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Genetic variation in the choline acetyltransferase (CHAT) gene may be associated with the risk of Alzheimer's disease.

Neurobiology Of Aging

Ozturk, Ayla A; DeKosky, Steven T ST; Kamboh, M Ilyas MI

Publication Date: 2006-10

Variant appearance in text: CHAT: A120T; rs3810950

PubMed Link: 16223550

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Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Ohno, K K; Tsujino, A A; Brengman, J M JM; Harper, C M CM; Bajzer, Z Z; Udd, B B; Beyring, R R; Robb, S S; Kirkham, F J FJ; Engel, A G AG

Publication Date: 2001-02-13

Variant appearance in text: CHAT: A120T

PubMed Link: 11172068

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