Publications:

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: DAO: 912+69A>G; rs3918347

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: rs3918347

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: 912+69A>G; rs3918347

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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ALS and CHARGE syndrome: a clinical and genetic study.

Acta Neurologica Belgica

Ungaro, Carmine C; Citrigno, Luigi L; Trojsi, Francesca F; Sprovieri, Teresa T; Gentile, Giulia G; Muglia, Maria M; Monsurrò, Maria Rosaria MR; Tedeschi, Gioacchino G; Cavallaro, Sebastiano S; Conforti, Francesca Luisa FL

Publication Date: 2018-12

Variant appearance in text: rs3918347

PubMed Link: 30317490

Variant Present in the following documents:

• 13760_2018_1029_MOESM4_ESM.pdf
• 13760_2018_1029_MOESM3_ESM.pdf

View BVdb publication page

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Prediction Analysis for Transition to Schizophrenia in Individuals at Clinical High Risk for Psychosis: The Relationship of DAO, DAOA, and NRG1 Variants with Negative Symptoms and Cognitive Deficits.

Frontiers In Psychiatry

Jagannath, Vinita V; Theodoridou, Anastasia A; Gerstenberg, Miriam M; Franscini, Maurizia M; Heekeren, Karsten K; Correll, Christoph U CU; Rössler, Wulf W; Grünblatt, Edna E; Walitza, Susanne S

Publication Date: 2017

Variant appearance in text: rs3918347

PubMed Link: 29326614

Variant Present in the following documents:

• Main text
• fpsyt-08-00292.pdf

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs3918347

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Expression of D-Amino Acid Oxidase (DAO/DAAO) and D-Amino Acid Oxidase Activator (DAOA/G72) during Development and Aging in the Human Post-mortem Brain.

Frontiers In Neuroanatomy

Jagannath, Vinita V; Marinova, Zoya Z; Monoranu, Camelia-Maria CM; Walitza, Susanne S; Grünblatt, Edna E

Publication Date: 2017

Variant appearance in text: rs3918347

PubMed Link: 28428746

Variant Present in the following documents:

• Main text
• fnana-11-00031.pdf

View BVdb publication page

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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: rs3918347

PubMed Link: 26986737

Variant Present in the following documents:

• Main text
• pone.0150435.pdf

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: rs3918347

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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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: rs3918347

PubMed Link: 23497497

Variant Present in the following documents:

• Main text
• 1471-2350-14-33.pdf

View BVdb publication page

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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: rs3918347

PubMed Link: 19786963

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs3918347

PubMed Link: 19693267

Variant Present in the following documents:

• Main text
• pone.0006704.pdf

View BVdb publication page

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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: rs3918347

PubMed Link: 16380905

Variant Present in the following documents:

• Main text

View BVdb publication page

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