Publications:

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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: rs11604671

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

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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: rs11604671

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

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A Systematic Review of Genetic Polymorphisms Associated with Binge Eating Disorder.

Nutrients

Manfredi, Lucia L; Accoto, Alessandra A; Couyoumdjian, Alessandro A; Conversi, David D

Publication Date: 2021-03-05

Variant appearance in text: rs11604671

PubMed Link: 33807560

Variant Present in the following documents:

• Main text

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The genetic basis of inter-individual variation in recovery from traumatic brain injury.

Npj Regenerative Medicine

Cortes, Daniel D; Pera, Martin F MF

Publication Date: 2021-01-21

Variant appearance in text: rs11604671

PubMed Link: 33479258

Variant Present in the following documents:

• 41536_2020_114_MOESM1_ESM.pdf

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs11604671

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

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Ankyrin Repeat and Kinase Domain Containing 1 Gene, and Addiction Vulnerability.

International Journal Of Molecular Sciences

Koeneke, Alejandra A; Ponce, Guillermo G; Troya-Balseca, Johanna J; Palomo, Tomás T; Hoenicka, Janet J

Publication Date: 2020-04-04

Variant appearance in text: rs11604671

PubMed Link: 32260442

Variant Present in the following documents:

• Main text
• ijms-21-02516.pdf

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs11604671

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs11604671

PubMed Link: 30214008

Variant Present in the following documents:

• Main text
• NIHMS1503453-supplement-3.xlsx, sheet 1

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Biological Predictors of Clozapine Response: A Systematic Review.

Frontiers In Psychiatry

Samanaite, Ruta R; Gillespie, Amy A; Sendt, Kyra-Verena KV; McQueen, Grant G; MacCabe, James H JH; Egerton, Alice A

Publication Date: 2018

Variant appearance in text: rs11604671

PubMed Link: 30093869

Variant Present in the following documents:

• fpsyt-09-00327.pdf

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Genetic Influences on Patient-Oriented Outcomes in Traumatic Brain Injury: A Living Systematic Review of Non-Apolipoprotein E Single-Nucleotide Polymorphisms.

Journal Of Neurotrauma

Zeiler, Frederick A FA; McFadyen, Charles C; Newcombe, Virginia F J VFJ; Synnot, Anneliese A; Donoghue, Emma L EL; Ripatti, Samuli S; Steyerberg, Ewout W EW; Gruen, Russel L RL; McAllister, Thomas W TW; Rosand, Jonathan J; Palotie, Aarno A; Maas, Andrew I R AIR; Menon, David K DK

Publication Date: 2021-04-15

Variant appearance in text: rs11604671

PubMed Link: 29799308

Variant Present in the following documents:

• Main text
• neu.2017.5583.pdf

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Converging findings from linkage and association analyses on susceptibility genes for smoking and other addictions.

Molecular Psychiatry

Yang, J J; Li, M D MD

Publication Date: 2016-08

Variant appearance in text: rs11604671

PubMed Link: 27166759

Variant Present in the following documents:

• Main text
• nihms-767542.pdf

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The ANKK1/DRD2 locus is a genomic substrate for affective priming and recognition of angry faces.

Brain And Behavior

Koeneke, Alejandra A; Ponce, Guillermo G; Hoenicka, Janet J; Huertas, Evelio E

Publication Date: 2015-11

Variant appearance in text: rs11604671

PubMed Link: 26664790

Variant Present in the following documents:

• Main text

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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: rs11604671

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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The significant association of Taq1A genotypes in DRD2/ANKK1 with smoking cessation in a large-scale meta-analysis of Caucasian populations.

Translational Psychiatry

Ma, Y Y; Wang, M M; Yuan, W W; Su, K K; Li, M D MD

Publication Date: 2015-12-01

Variant appearance in text: rs11604671

PubMed Link: 26624925

Variant Present in the following documents:

• Main text
• tp2015176a.pdf

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An initial investigation of associations between dopamine-linked genetic variation and smoking motives in African Americans.

Pharmacology, Biochemistry, And Behavior

Bidwell, L C LC; McGeary, J E JE; Gray, J C JC; Palmer, R H C RH; Knopik, V S VS; MacKillop, J J

Publication Date: 2015-11

Variant appearance in text: rs11604671

PubMed Link: 26410615

Variant Present in the following documents:

• Main text

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Genetic influences on delay discounting in smokers: examination of a priori candidates and exploration of dopamine-related haplotypes.

Psychopharmacology

MacKillop, James J; Gray, Joshua C JC; Bidwell, L Cinnamon LC; Bickel, Warren K WK; Sheffer, Christine E CE; McGeary, John E JE

Publication Date: 2015-10

Variant appearance in text: rs11604671

PubMed Link: 26220612

Variant Present in the following documents:

• Main text

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The DYX2 locus and neurochemical signaling genes contribute to speech sound disorder and related neurocognitive domains.

Genes, Brain, And Behavior

Eicher, J D JD; Stein, C M CM; Deng, F F; Ciesla, A A AA; Powers, N R NR; Boada, R R; Smith, S D SD; Pennington, B F BF; Iyengar, S K SK; Lewis, B A BA; Gruen, J R JR

Publication Date: 2015-04

Variant appearance in text: rs11604671

PubMed Link: 25778907

Variant Present in the following documents:

• Main text
• GBB-14-377.pdf

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NCAM1-TTC12-ANKK1-DRD2 variants and smoking motives as intermediate phenotypes for nicotine dependence.

Psychopharmacology

Bidwell, L C LC; McGeary, J E JE; Gray, J C JC; Palmer, R H C RH; Knopik, V S VS; MacKillop, J J

Publication Date: 2015-04

Variant appearance in text: rs11604671

PubMed Link: 25273375

Variant Present in the following documents:

• Main text

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs11604671

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

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Associations of prenatal nicotine exposure and the dopamine related genes ANKK1 and DRD2 to verbal language.

Plos One

Eicher, John D JD; Powers, Natalie R NR; Cho, Kelly K; Miller, Laura L LL; Mueller, Kathryn L KL; Ring, Susan M SM; Tomblin, J Bruce JB; Gruen, Jeffrey R JR

Publication Date: 2013

Variant appearance in text: rs11604671

PubMed Link: 23691092

Variant Present in the following documents:

• Main text
• pone.0063762.pdf

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Differential susceptibility to prevention: GABAergic, dopaminergic, and multilocus effects.

Journal Of Child Psychology And Psychiatry, And Allied Disciplines

Brody, Gene H GH; Chen, Yi-fu YF; Beach, Steven R H SR

Publication Date: 2013-08

Variant appearance in text: rs11604671

PubMed Link: 23294086

Variant Present in the following documents:

• Main text

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Genetics and outcomes after traumatic brain injury (TBI): what do we know about pediatric TBI?

Journal Of Pediatric Rehabilitation Medicine

Kurowski, Brad B; Martin, Lisa J LJ; Wade, Shari L SL

Publication Date: 2012

Variant appearance in text: rs11604671

PubMed Link: 23023254

Variant Present in the following documents:

• Main text

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A common genetic network underlies substance use disorders and disruptive or externalizing disorders.

Human Genetics

Arcos-Burgos, Mauricio M; Vélez, Jorge I JI; Solomon, Benjamin D BD; Muenke, Maximilian M

Publication Date: 2012-06

Variant appearance in text: rs11604671

PubMed Link: 22492058

Variant Present in the following documents:

• Main text
• 439_2012_Article_1164.pdf

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Sex differences in TTC12/ANKK1 haplotype associations with daily tobacco smoking in Black and White Americans.

Nicotine & Tobacco Research : Official Journal Of The Society For Research On Nicotine And Tobacco

David, Sean P SP; Mezuk, Briana B; Zandi, Peter P PP; Strong, David D; Anthony, James C JC; Niaura, Raymond R; Uhl, George R GR; Eaton, William W WW

Publication Date: 2010-03

Variant appearance in text: rs11604671

PubMed Link: 20133381

Variant Present in the following documents:

• Main text

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Single nucleotide polymorphisms in ANKK1 and the dopamine D2 receptor gene affect cognitive outcome shortly after traumatic brain injury: a replication and extension study.

Brain Injury

McAllister, Thomas W TW; Flashman, Laura A LA; Harker Rhodes, C C; Tyler, Anna L AL; Moore, Jason H JH; Saykin, Andrew J AJ; McDonald, Brenna C BC; Tosteson, Tor D TD; Tsongalis, Gregory J GJ

Publication Date: 2008-08

Variant appearance in text: rs11604671

PubMed Link: 18698520

Variant Present in the following documents:

• Main text

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