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: rs2734849

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_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: rs2734849

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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Polymorphisms of Dopamine Receptor Genes and Parkinson's Disease: Clinical Relevance and Future Perspectives.

International Journal Of Molecular Sciences

Magistrelli, Luca L; Ferrari, Marco M; Furgiuele, Alessia A; Milner, Anna Vera AV; Contaldi, Elena E; Comi, Cristoforo C; Cosentino, Marco M; Marino, Franca F

Publication Date: 2021-04-06

Variant appearance in text: rs2734849

PubMed Link: 33917417

Variant Present in the following documents:

• Main text

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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: rs2734849

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: rs2734849

PubMed Link: 33479258

Variant Present in the following documents:

• Main text
• 41536_2020_Article_114.pdf
• 41536_2020_114_MOESM1_ESM.pdf

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs2734849

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

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Association of ANKK1 polymorphism with antipsychotic-induced hyperprolactinemia.

Human Psychopharmacology

Fedorenko, Olga Yu OY; Paderina, Diana Z DZ; Loonen, Anton J M AJM; Pozhidaev, Ivan V IV; Boiko, Anastasiia S AS; Kornetova, Elena G EG; Bokhan, Nikolay A NA; Wilffert, Bob B; Ivanova, Svetlana A SA

Publication Date: 2020-07

Variant appearance in text: rs2734849

PubMed Link: 32383805

Variant Present in the following documents:

• Main text

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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: rs2734849

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: rs2734849

PubMed Link: 32260442

Variant Present in the following documents:

• Main text
• ijms-21-02516.pdf

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Examining Procedural Learning and Corticostriatal Pathways for Individual Differences in Language: Testing Endophenotypes of DRD2/ANKK1.

Language, Cognition And Neuroscience

Lee, Joanna C JC; Mueller, Kathryn L KL; Tomblin, J Bruce JB

Publication Date: 2016

Variant appearance in text: rs2734849

PubMed Link: 31768398

Variant Present in the following documents:

• Main text

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The potential roles of dopamine in traumatic brain injury: a preclinical and clinical update.

American Journal Of Translational Research

Lan, Yu-Long YL; Li, Shao S; Lou, Jia-Cheng JC; Ma, Xiao-Chi XC; Zhang, Bo B

Publication Date: 2019

Variant appearance in text: rs2734849

PubMed Link: 31217842

Variant Present in the following documents:

• Main text

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A pharmacogenetic study of patients with schizophrenia from West Siberia gets insight into dopaminergic mechanisms of antipsychotic-induced hyperprolactinemia.

Bmc Medical Genetics

Osmanova, Diana Z DZ; Freidin, Maxim B MB; Fedorenko, Olga Yu OY; Pozhidaev, Ivan V IV; Boiko, Anastasiia S AS; Vyalova, Natalia M NM; Tiguntsev, Vladimir V VV; Kornetova, Elena G EG; Loonen, Anton J M AJM; Semke, Arkadiy V AV; Wilffert, Bob B; Bokhan, Nikolay A NA; Ivanova, Svetlana A SA

Publication Date: 2019-04-09

Variant appearance in text: rs2734849

PubMed Link: 30967134

Variant Present in the following documents:

• Main text
• 12881_2019_Article_773.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: rs2734849

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

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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: rs2734849

PubMed Link: 30214008

Variant Present in the following documents:

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

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The Benefits of Genetic Addiction Risk Score (GARS™) Testing in Substance Use Disorder (SUD).

International Journal Of Genomics And Data Mining

Blum, Kenneth K; Modestino, Edward J EJ; Gondre-Lewis, Marjorie M; Chapman, Edwin J EJ; Neary, Jennifer J; Siwicki, David D; Baron, David D; Hauser, Mary M; Smith, David E DE; Roy, Alphonse Kenison AK; Thanos, Panayotis K PK; Steinberg, Bruce B; McLaughlin, Thomas T; Fried, Lyle L; Barh, Debmalya D; Dunston, Georgia A GA; Badgaiyan, Rajendra D RD

Publication Date: 2018

Variant appearance in text: rs2734849

PubMed Link: 30198022

Variant Present in the following documents:

• Main text

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Dopamine receptors and BDNF-haplotypes predict dyskinesia in Parkinson's disease.

Parkinsonism & Related Disorders

Kusters, Cynthia D J CDJ; Paul, Kimberly C KC; Guella, Ilaria I; Bronstein, Jeff M JM; Sinsheimer, Janet S JS; Farrer, Matt J MJ; Ritz, Beate R BR

Publication Date: 2018-02

Variant appearance in text: rs2734849

PubMed Link: 29191473

Variant Present in the following documents:

• Main text

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Association of Polymorphisms in Pharmacogenetic Candidate Genes with Propofol Susceptibility.

Scientific Reports

Zhong, Qi Q; Chen, Xiangdong X; Zhao, Yan Y; Liu, Ru R; Yao, Shanglong S

Publication Date: 2017-06-13

Variant appearance in text: rs2734849

PubMed Link: 28611364

Variant Present in the following documents:

• Main text
• 41598_2017_Article_3229.pdf

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Parkinson's Disease: From Pathogenesis to Pharmacogenomics.

International Journal Of Molecular Sciences

Cacabelos, Ramón R

Publication Date: 2017-03-04

Variant appearance in text: rs2734849

PubMed Link: 28273839

Variant Present in the following documents:

• Main text
• ijms-18-00551.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: rs2734849

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: rs2734849

PubMed Link: 26664790

Variant Present in the following documents:

• Main text
• BRB3-5-e00405.pdf

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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: rs2734849

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Gene network analysis shows immune-signaling and ERK1/2 as novel genetic markers for multiple addiction phenotypes: alcohol, smoking and opioid addiction.

Bmc Systems Biology

Reyes-Gibby, Cielito C CC; Yuan, Christine C; Wang, Jian J; Yeung, Sai-Ching J SC; Shete, Sanjay S

Publication Date: 2015-06-05

Variant appearance in text: rs2734849

PubMed Link: 26044620

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: rs2734849

PubMed Link: 25778907

Variant Present in the following documents:

• Main text
• GBB-14-377.pdf

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Language impairment and dyslexia genes influence language skills in children with autism spectrum disorders.

Autism Research : Official Journal Of The International Society For Autism Research

Eicher, John D JD; Gruen, Jeffrey R JR

Publication Date: 2015-04

Variant appearance in text: rs2734849

PubMed Link: 25448322

Variant Present in the following documents:

• Main text

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Association between AVPR1A, DRD2, and ASPM and endophenotypes of communication disorders.

Psychiatric Genetics

Stein, Catherine M CM; Truitt, Barbara B; Deng, Fenghua F; Ciesla, Allison Avrich AA; Qiu, Feiyou F; Joseph, Peronne P; Raghavendra, Rekha R; Fondran, Jeremy J; Igo, Robert P RP; Tag, Jessica J; Freebairn, Lisa L; Taylor, H Gerry HG; Lewis, Barbara A BA; Iyengar, Sudha K SK

Publication Date: 2014-10

Variant appearance in text: rs2734849

PubMed Link: 24849541

Variant Present in the following documents:

• Main text

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Introduction to deep sequencing and its application to drug addiction research with a focus on rare variants.

Molecular Neurobiology

Wang, Shaolin S; Yang, Zhongli Z; Ma, Jennie Z JZ; Payne, Thomas J TJ; Li, Ming D MD

Publication Date: 2014-02

Variant appearance in text: rs2734849

PubMed Link: 23990377

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: rs2734849

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: rs2734849

PubMed Link: 23691092

Variant Present in the following documents:

• Main text

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Linking dopamine neurotransmission and neurogenesis: The evolutionary history of the NTAD (NCAM1-TTC12-ANKK1-DRD2) gene cluster.

Genetics And Molecular Biology

Mota, Nina Roth NR; Araujo-Jnr, Eli Vieira EV; Paixão-Côrtes, Vanessa Rodrigues VR; Bortolini, Maria Cátira MC; Bau, Claiton Henrique Dotto CH

Publication Date: 2012-12

Variant appearance in text: rs2734849

PubMed Link: 23412349

Variant Present in the following documents:

• Main text

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ANKK1, TTC12, and NCAM1 polymorphisms and heroin dependence: importance of considering drug exposure.

Jama Psychiatry

Nelson, Elliot C EC; Lynskey, Michael T MT; Heath, Andrew C AC; Wray, Naomi N; Agrawal, Arpana A; Shand, Fiona L FL; Henders, Anjali K AK; Wallace, Leanne L; Todorov, Alexandre A AA; Schrage, Andrew J AJ; Saccone, Nancy L NL; Madden, Pamela A F PA; Degenhardt, Louisa L; Martin, Nicholas G NG; Montgomery, Grant W GW

Publication Date: 2013-03

Variant appearance in text: rs2734849

PubMed Link: 23303482

Variant Present in the following documents:

• Main text

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Genetic predictors of response to serotonergic and noradrenergic antidepressants in major depressive disorder: a genome-wide analysis of individual-level data and a meta-analysis.

Plos Medicine

Tansey, Katherine E KE; Guipponi, Michel M; Perroud, Nader N; Bondolfi, Guido G; Domenici, Enrico E; Evans, David D; Hall, Stephanie K SK; Hauser, Joanna J; Henigsberg, Neven N; Hu, Xiaolan X; Jerman, Borut B; Maier, Wolfgang W; Mors, Ole O; O'Donovan, Michael M; Peters, Tim J TJ; Placentino, Anna A; Rietschel, Marcella M; Souery, Daniel D; Aitchison, Katherine J KJ; Craig, Ian I; Farmer, Anne A; Wendland, Jens R JR; Malafosse, Alain A; Holmans, Peter P; Lewis, Glyn G; Lewis, Cathryn M CM; Stensbøl, Tine Bryan TB; Kapur, Shitij S; McGuffin, Peter P; Uher, Rudolf R

Publication Date: 2012

Variant appearance in text: rs2734849

PubMed Link: 23091423

Variant Present in the following documents:

• pmed.1001326.s001.pdf

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The association between DRD2/ANKK1 and genetically informed measures of alcohol use and problems.

Addiction Biology

Meyers, Jacquelyn L JL; Nyman, Emma E; Loukola, Anu A; Rose, Richard J RJ; Kaprio, Jaakko J; Dick, Danielle M DM

Publication Date: 2013-05

Variant appearance in text: rs2734849

PubMed Link: 22970887

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: rs2734849

PubMed Link: 22492058

Variant Present in the following documents:

• Main text
• 439_2012_Article_1164.pdf

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TTC12-ANKK1-DRD2 and CHRNA5-CHRNA3-CHRNB4 influence different pathways leading to smoking behavior from adolescence to mid-adulthood.

Biological Psychiatry

Ducci, Francesca F; Kaakinen, Marika M; Pouta, Anneli A; Hartikainen, Anna-Liisa AL; Veijola, Juha J; Isohanni, Matti M; Charoen, Pimphen P; Coin, Lachlan L; Hoggart, Clive C; Ekelund, Jesper J; Peltonen, Leena L; Freimer, Nelson N; Elliott, Paul P; Schumann, Gunter G; Järvelin, Marjo-Riitta MR

Publication Date: 2011-04-01

Variant appearance in text: rs2734849

PubMed Link: 21168125

Variant Present in the following documents:

• Main text

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Hypothesizing that brain reward circuitry genes are genetic antecedents of pain sensitivity and critical diagnostic and pharmacogenomic treatment targets for chronic pain conditions.

Medical Hypotheses

Chen, Amanda L-C AL; Chen, Thomas J H TJ; Waite, Roger L RL; Reinking, Jeffrey J; Tung, Howard L HL; Rhoades, Patrick P; Downs, B William BW; Braverman, Eric E; Braverman, Dasha D; Kerner, Mallory M; Blum, Seth H SH; DiNubile, Nicholas N; Smith, David D; Oscar-Berman, Marlene M; Prihoda, Thomas J TJ; Floyd, John B JB; O'Brien, David D; Liu, H H HH; Blum, Kenneth K

Publication Date: 2009-01

Variant appearance in text: rs2734849

PubMed Link: 18951726

Variant Present in the following documents:

• Main text

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Haplotypic variants in DRD2, ANKK1, TTC12, and NCAM1 are associated with comorbid alcohol and drug dependence.

Alcoholism, Clinical And Experimental Research

Yang, Bao-Zhu BZ; Kranzler, Henry R HR; Zhao, Hongyu H; Gruen, Jeffrey R JR; Luo, Xingguang X; Gelernter, Joel J

Publication Date: 2008-12

Variant appearance in text: rs2734849

PubMed Link: 18828801

Variant Present in the following documents:

• Main text

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