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: rs3741775

PubMed Link: 36241656

Variant Present in the following documents:

• 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: rs3741775

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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The schizophrenia genetics knowledgebase: a comprehensive update of findings from candidate gene studies.

Translational Psychiatry

Liu, Chenxing C; Kanazawa, Tetsufumi T; Tian, Ye Y; Mohamed Saini, Suriati S; Mancuso, Serafino S; Mostaid, Md Shaki MS; Takahashi, Atsushi A; Zhang, Dai D; Zhang, Fuquan F; Yu, Hao H; Doo Shin, Hyoung H; Sub Cheong, Hyun H; Ikeda, Masashi M; Kubo, Michiaki M; Iwata, Nakao N; Woo, Sung-Il SI; Yue, Weihua W; Kamatani, Yoichiro Y; Shi, Yongyong Y; Li, Zhiqiang Z; Everall, Ian I; Pantelis, Christos C; Bousman, Chad C

Publication Date: 2019-08-27

Variant appearance in text: rs3741775

PubMed Link: 31455759

Variant Present in the following documents:

• 41398_2019_532_MOESM16_ESM.xls, sheet 1

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: DAO: 386+282A>C; rs3741775

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

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Low statistical power in biomedical science: a review of three human research domains.

Royal Society Open Science

Dumas-Mallet, Estelle E; Button, Katherine S KS; Boraud, Thomas T; Gonon, Francois F; Munafò, Marcus R MR

Publication Date: 2017-02

Variant appearance in text: rs3741775

PubMed Link: 28386409

Variant Present in the following documents:

• rsos160254supp3.xlsx, sheet 1

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Genetic Consideration of Schizotypal Traits: A Review.

Frontiers In Psychology

Walter, Emma E EE; Fernandez, Francesca F; Snelling, Mollie M; Barkus, Emma E

Publication Date: 2016

Variant appearance in text: rs3741775

PubMed Link: 27895608

Variant Present in the following documents:

• Main text
• fpsyg-07-01769.pdf

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Replication Validity of Initial Association Studies: A Comparison between Psychiatry, Neurology and Four Somatic Diseases.

Plos One

Dumas-Mallet, Estelle E; Button, Katherine K; Boraud, Thomas T; Munafo, Marcus M; Gonon, François F

Publication Date: 2016

Variant appearance in text: rs3741775

PubMed Link: 27336301

Variant Present in the following documents:

• pone.0158064.s002.xlsx, sheet 4

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Haplotypes of the D-Amino Acid Oxidase Gene Are Significantly Associated with Schizophrenia and Its Neurocognitive Deficits.

Plos One

Liu, Yu-Li YL; Wang, Sheng-Chang SC; Hwu, Hai-Gwo HG; Fann, Cathy Shen-Jang CS; Yang, Ueng-Cheng UC; Yang, Wei-Chih WC; Hsu, Pei-Chun PC; Chang, Chien-Ching CC; Wen, Chun-Chiang CC; Tsai-Wu, Jyy-Jih JJ; Hwang, Tzung-Jeng TJ; Hsieh, Ming H MH; Liu, Chen-Chung CC; Chien, Yi-Ling YL; Fang, Chiu-Ping CP; Faraone, Stephen V SV; Tsuang, Ming T MT; Chen, Wei J WJ; Liu, Chih-Min CM

Publication Date: 2016

Variant appearance in text: rs3741775

PubMed Link: 26986737

Variant Present in the following documents:

• Main text
• pone.0150435.pdf

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Schizophrenia susceptibility and NMDA-receptor mediated signalling: an association study involving 32 tagSNPs of DAO, DAOA, PPP3CC, and DTNBP1 genes.

Bmc Medical Genetics

Sacchetti, Emilio E; Scassellati, Catia C; Minelli, Alessandra A; Valsecchi, Paolo P; Bonvicini, Cristian C; Pasqualetti, Patrizio P; Galluzzo, Alessandro A; Pioli, Rosaria R; Gennarelli, Massimo M

Publication Date: 2013-03-09

Variant appearance in text: rs3741775

PubMed Link: 23497497

Variant Present in the following documents:

• Main text
• 1471-2350-14-33.pdf

View BVdb publication page

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Prepulse inhibition of startle response: recent advances in human studies of psychiatric disease.

Clinical Psychopharmacology And Neuroscience : The Official Scientific Journal Of The Korean College Of Neuropsychopharmacology

Takahashi, Hidetoshi H; Hashimoto, Ryota R; Iwase, Masao M; Ishii, Ryouhei R; Kamio, Yoko Y; Takeda, Masatoshi M

Publication Date: 2011-12

Variant appearance in text: rs3741775

PubMed Link: 23429840

Variant Present in the following documents:

• Main text

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Analysis of 94 candidate genes and 12 endophenotypes for schizophrenia from the Consortium on the Genetics of Schizophrenia.

The American Journal Of Psychiatry

Greenwood, Tiffany A TA; Lazzeroni, Laura C LC; Murray, Sarah S SS; Cadenhead, Kristin S KS; Calkins, Monica E ME; Dobie, Dorcas J DJ; Green, Michael F MF; Gur, Raquel E RE; Gur, Ruben C RC; Hardiman, Gary G; Kelsoe, John R JR; Leonard, Sherry S; Light, Gregory A GA; Nuechterlein, Keith H KH; Olincy, Ann A; Radant, Allen D AD; Schork, Nicholas J NJ; Seidman, Larry J LJ; Siever, Larry J LJ; Silverman, Jeremy M JM; Stone, William S WS; Swerdlow, Neal R NR; Tsuang, Debby W DW; Tsuang, Ming T MT; Turetsky, Bruce I BI; Freedman, Robert R; Braff, David L DL

Publication Date: 2011-09

Variant appearance in text: rs3741775

PubMed Link: 21498463

Variant Present in the following documents:

• Main text

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The association of schizophrenia risk D-amino acid oxidase polymorphisms with sensorimotor gating, working memory and personality in healthy males.

Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology

Roussos, Panos P; Giakoumaki, Stella G SG; Adamaki, Eva E; Georgakopoulos, Anastasios A; Anastasios, Georgakopoulos G; Robakis, Nikos K NK; Nikos, Robakis K RK; Bitsios, Panos P

Publication Date: 2011-07

Variant appearance in text: rs3741775

PubMed Link: 21471957

Variant Present in the following documents:

• Main text

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Genomics and pharmacogenomics of schizophrenia.

Cns Neuroscience & Therapeutics

Cacabelos, Ramón R; Martínez-Bouza, Rocío R

Publication Date: 2011-10

Variant appearance in text: rs3741775

PubMed Link: 20718829

Variant Present in the following documents:

• Main text

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Persistence criteria for susceptibility genes for schizophrenia: a discussion from an evolutionary viewpoint.

Plos One

Doi, Nagafumi N; Hoshi, Yoko Y; Itokawa, Masanari M; Usui, Chie C; Yoshikawa, Takeo T; Tachikawa, Hirokazu H

Publication Date: 2009-11-11

Variant appearance in text: rs3741775

PubMed Link: 19911060

Variant Present in the following documents:

• Main text

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The neurobiology of D-amino acid oxidase and its involvement in schizophrenia.

Molecular Psychiatry

Verrall, L L; Burnet, P W J PW; Betts, J F JF; Harrison, P J PJ

Publication Date: 2010-02

Variant appearance in text: rs3741775

PubMed Link: 19786963

Variant Present in the following documents:

• Main text

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Financial and psychological risk attitudes associated with two single nucleotide polymorphisms in the nicotine receptor (CHRNA4) gene.

Plos One

Roe, Brian E BE; Tilley, Michael R MR; Gu, Howard H HH; Beversdorf, David Q DQ; Sadee, Wolfgang W; Haab, Timothy C TC; Papp, Audrey C AC

Publication Date: 2009-08-20

Variant appearance in text: rs3741775

PubMed Link: 19693267

Variant Present in the following documents:

• Main text

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Evidence for the association of the DAOA (G72) gene with schizophrenia and bipolar disorder but not for the association of the DAO gene with schizophrenia.

Behavioral And Brain Functions : Bbf

Bass, Nicholas J NJ; Datta, Susmita R SR; McQuillin, Andrew A; Puri, Vinay V; Choudhury, Khalid K; Thirumalai, Srinivasa S; Lawrence, Jacob J; Quested, Digby D; Pimm, Jonathan J; Curtis, David D; Gurling, Hugh Md HM

Publication Date: 2009-07-08

Variant appearance in text: rs3741775

PubMed Link: 19586533

Variant Present in the following documents:

• Main text
• 1744-9081-5-28.pdf

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Genetic associations with schizophrenia: meta-analyses of 12 candidate genes.

Schizophrenia Research

Shi, Jiajun J; Gershon, Elliot S ES; Liu, Chunyu C

Publication Date: 2008-09

Variant appearance in text: rs3741775

PubMed Link: 18715757

Variant Present in the following documents:

• Main text

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Analysis of phenotype-genotype connection: the story of dissecting disease pathogenesis in genomic era in China, and beyond.

Philosophical Transactions Of The Royal Society Of London. Series B, Biological Sciences

Shen, Yan Y; Xu, Qi Q; Han, Zeguang Z; Liu, Han H; Zhou, Guang-Biao GB

Publication Date: 2007-06-29

Variant appearance in text: rs3741775

PubMed Link: 17327209

Variant Present in the following documents:

• Main text

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G72/G30 genes and schizophrenia: a systematic meta-analysis of association studies.

Genetics

Li, Dawei D; He, Lin L

Publication Date: 2007-02

Variant appearance in text: rs3741775

PubMed Link: 17179078

Variant Present in the following documents:

• Main text

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Bipolar I disorder and schizophrenia: a 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios.

American Journal Of Human Genetics

Fallin, M Daniele MD; Lasseter, Virginia K VK; Avramopoulos, Dimitrios D; Nicodemus, Kristin K KK; Wolyniec, Paula S PS; McGrath, John A JA; Steel, Gary G; Nestadt, Gerald G; Liang, Kung-Yee KY; Huganir, Richard L RL; Valle, David D; Pulver, Ann E AE

Publication Date: 2005-12

Variant appearance in text: rs3741775

PubMed Link: 16380905

Variant Present in the following documents:

• Main text

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