Publications:

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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: rs2273505

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

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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: rs2273505

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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Genome-wide meta-analysis reveals common splice site acceptor variant in CHRNA4 associated with nicotine dependence.

Translational Psychiatry

Hancock, D B DB; Reginsson, G W GW; Gaddis, N C NC; Chen, X X; Saccone, N L NL; Lutz, S M SM; Qaiser, B B; Sherva, R R; Steinberg, S S; Zink, F F; Stacey, S N SN; Glasheen, C C; Chen, J J; Gu, F F; Frederiksen, B N BN; Loukola, A A; Gudbjartsson, D F DF; Brüske, I I; Landi, M T MT; Bickeböller, H H; Madden, P P; Farrer, L L; Kaprio, J J; Kranzler, H R HR; Gelernter, J J; Baker, T B TB; Kraft, P P; Amos, C I CI; Caporaso, N E NE; Hokanson, J E JE; Bierut, L J LJ; Thorgeirsson, T E TE; Johnson, E O EO; Stefansson, K K

Publication Date: 2015-10-06

Variant appearance in text: rs2273505

PubMed Link: 26440539

Variant Present in the following documents:

• Main text
• tp2015149a.pdf

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Integrative variable selection via Bayesian model uncertainty.

Statistics In Medicine

Quintana, M A MA; Conti, D V DV

Publication Date: 2013-12-10

Variant appearance in text: rs2273505

PubMed Link: 23824835

Variant Present in the following documents:

• Main text

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Gender-stratified gene and gene-treatment interactions in smoking cessation.

The Pharmacogenomics Journal

Lee, W W; Bergen, A W AW; Swan, G E GE; Li, D D; Liu, J J; Thomas, P P; Tyndale, R F RF; Benowitz, N L NL; Lerman, C C; Conti, D V DV

Publication Date: 2012-12

Variant appearance in text: rs2273505

PubMed Link: 21808284

Variant Present in the following documents:

• NIHMS305090-supplement-3.pdf

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Varenicline for smoking cessation: nausea severity and variation in nicotinic receptor genes.

The Pharmacogenomics Journal

Swan, G E GE; Javitz, H S HS; Jack, L M LM; Wessel, J J; Michel, M M; Hinds, D A DA; Stokowksi, R P RP; McClure, J B JB; Catz, S L SL; Richards, J J; Zbikowski, S M SM; Deprey, M M; McAfee, T T; Conti, D V DV; Bergen, A W AW

Publication Date: 2012-08

Variant appearance in text: rs2273505

PubMed Link: 21606948

Variant Present in the following documents:

• Main text

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Resequencing of nicotinic acetylcholine receptor genes and association of common and rare variants with the Fagerström test for nicotine dependence.

Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology

Wessel, Jennifer J; McDonald, Sarah M SM; Hinds, David A DA; Stokowski, Renee P RP; Javitz, Harold S HS; Kennemer, Michael M; Krasnow, Ruth R; Dirks, William W; Hardin, Jill J; Pitts, Steven J SJ; Michel, Martha M; Jack, Lisa L; Ballinger, Dennis G DG; McClure, Jennifer B JB; Swan, Gary E GE; Bergen, Andrew W AW

Publication Date: 2010-11

Variant appearance in text: rs2273505

PubMed Link: 20736995

Variant Present in the following documents:

• Main text

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Molecular genetics of attention deficit hyperactivity disorder.

The Psychiatric Clinics Of North America

Faraone, Stephen V SV; Mick, Eric E

Publication Date: 2010-03

Variant appearance in text: rs2273505

PubMed Link: 20159345

Variant Present in the following documents:

• Main text

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Nicotinic receptor gene variants influence susceptibility to heavy smoking.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Stevens, Victoria L VL; Bierut, Laura J LJ; Talbot, Jeffrey T JT; Wang, Jen C JC; Sun, Juzhong J; Hinrichs, Anthony L AL; Thun, Michael J MJ; Goate, Alison A; Calle, Eugenia E EE

Publication Date: 2008-12

Variant appearance in text: rs2273505

PubMed Link: 19029397

Variant Present in the following documents:

• Main text

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Gene-gene interactions among CHRNA4, CHRNB2, BDNF, and NTRK2 in nicotine dependence.

Biological Psychiatry

Li, Ming D MD; Lou, Xiang-Yang XY; Chen, Guobo G; Ma, Jennie Z JZ; Elston, Robert C RC

Publication Date: 2008-12-01

Variant appearance in text: rs2273505

PubMed Link: 18534558

Variant Present in the following documents:

• Main text

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Identification of pharmacogenetic markers in smoking cessation therapy.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics

Heitjan, Daniel F DF; Guo, Mengye M; Ray, Riju R; Wileyto, E Paul EP; Epstein, Leonard H LH; Lerman, Caryn C

Publication Date: 2008-09-05

Variant appearance in text: rs2273505

PubMed Link: 18165968

Variant Present in the following documents:

• Main text

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Association study of the nicotinic acetylcholine receptor alpha4 subunit gene, CHRNA4, in attention-deficit hyperactivity disorder.

Genes, Brain, And Behavior

Lee, J J; Laurin, N N; Crosbie, J J; Ickowicz, A A; Pathare, T T; Malone, M M; Kennedy, J L JL; Tannock, R R; Schachar, R R; Barr, C L CL

Publication Date: 2008-02

Variant appearance in text: rs2273505

PubMed Link: 17504247

Variant Present in the following documents:

• Main text

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A generalized combinatorial approach for detecting gene-by-gene and gene-by-environment interactions with application to nicotine dependence.

American Journal Of Human Genetics

Lou, Xiang-Yang XY; Chen, Guo-Bo GB; Yan, Lei L; Ma, Jennie Z JZ; Zhu, Jun J; Elston, Robert C RC; Li, Ming D MD

Publication Date: 2007-06

Variant appearance in text: rs2273505

PubMed Link: 17503330

Variant Present in the following documents:

• Main text

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