Publications:

---

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: SLC1A1: T138T; rs2228622

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Bacillus Calmette-Guérin Treatment Changes the Tumor Microenvironment of Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology

Su, Fei F; Liu, Ming M; Zhang, Wei W; Tang, Min M; Zhang, Jinsong J; Li, Hexin H; Zou, Lihui L; Zhang, Rui R; Liu, Yudong Y; Li, Lin L; Ma, Jie J; Zhang, Yaqun Y; Chen, Meng M; Xiao, Fei F

Publication Date: 2022

Variant appearance in text: SLC1A1: T138T

PubMed Link: 35311085

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

View BVdb publication page

---

Response to Fluvoxamine in the Obsessive-Compulsive Disorder Patients: Bayesian Ordinal Quantile Regression.

Clinical Practice And Epidemiology In Mental Health : Cp & Emh

Safiloo, Samad S; Mehrabi, Yadollah Y; Asadi, Sareh S; Khodakarim, Soheila S

Publication Date: 2021

Variant appearance in text: rs2228622

PubMed Link: 34880926

Variant Present in the following documents:

• Main text
• CPEMH-17-146.pdf

View BVdb publication page

---

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: SLC1A1: 414G>A; T138T; rs2228622

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

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: SLC1A1: Thr138Thr; rs2228622

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: SLC1A1: 414G>A; T138T; rs2228622

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

---

Solute Carrier Family 1 (SLC1A1) Contributes to Susceptibility and Psychopathology Symptoms of Schizophrenia in the Han Chinese Population.

Frontiers In Psychiatry

Li, Wenqiang W; Su, Xi X; Chen, Tengfei T; Li, Zhen Z; Yang, Yongfeng Y; Zhang, Luwen L; Liu, Qing Q; Shao, Minglong M; Zhang, Yan Y; Ding, Minli M; Lu, Yanli Y; Yu, Hongyan H; Fan, Xiaoduo X; Song, Meng M; Lv, Luxian L

Publication Date: 2020

Variant appearance in text: rs2228622

PubMed Link: 33173509

Variant Present in the following documents:

• Main text
• fpsyt-11-559210.pdf

View BVdb publication page

---

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: rs2228622

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

The genetic landscape of the human solute carrier (SLC) transporter superfamily.

Human Genetics

Schaller, Lena L; Lauschke, Volker M VM

Publication Date: 2019-12

Variant appearance in text: SLC1A1: T138T; rs2228622

PubMed Link: 31679053

Variant Present in the following documents:

• Main text
• 439_2019_Article_2081.pdf

View BVdb publication page

---

PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: SLC1A1: 414G>A; Thr138=; rs2228622

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

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: SLC1A1: T138T; rs2228622

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs2228622

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

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: SLC1A1: 414G>A; rs2228622

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

---

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: rs2228622

PubMed Link: 30093869

Variant Present in the following documents:

• fpsyt-09-00327.pdf

View BVdb publication page

---

A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: SLC1A1: 414G>A; T138T; rs2228622

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 2

View BVdb publication page

---

Association between glutamate transporter gene polymorphisms and obsessive-compulsive disorder/trait empathy in a Korean population.

Plos One

Kim, Hae Won HW; Kang, Jee In JI; Hwang, Eun Hee EH; Kim, Se Joo SJ

Publication Date: 2018

Variant appearance in text: rs2228622

PubMed Link: 29304071

Variant Present in the following documents:

• Main text
• pone.0190593.pdf

View BVdb publication page

---

Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: SLC1A1: T138T; rs2228622

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

---

Pharmacogenetics and Pharmacotherapy of Military Personnel Suffering from Post-traumatic Stress Disorder.

Current Neuropharmacology

Naß, Janine J; Efferth, Thomas T

Publication Date: 2017

Variant appearance in text: rs2228622

PubMed Link: 27834145

Variant Present in the following documents:

• CN-15-831.pdf

View BVdb publication page

---

Evaluating the Role of Genetic Variants on first-line antiepileptic drug response in North India: Significance of SCN1A and GABRA1 Gene Variants in Phenytoin Monotherapy and its Serum Drug Levels.

Cns Neuroscience & Therapeutics

Baghel, Ruchi R; Grover, Sandeep S; Kaur, Harpreet H; Jajodia, Ajay A; Rawat, Chitra C; Srivastava, Ankit A; Kushwaha, Suman S; Agarwal, Rachna R; Sharma, Sangeeta S; Kukreti, Ritushree R

Publication Date: 2016-09

Variant appearance in text: rs2228622

PubMed Link: 27245092

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Comorbid Obsessive-Compulsive Symptoms in Schizophrenia: Insight into Pathomechanisms Facilitates Treatment.

Advances In Medicine

Zink, Mathias M

Publication Date: 2014

Variant appearance in text: rs2228622

PubMed Link: 26556409

Variant Present in the following documents:

• Main text
• AMED2014-317980.pdf

View BVdb publication page

---

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: SLC1A1: T138T; rs2228622

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

View BVdb publication page

---

Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: SLC1A1: T138T

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: SLC1A1: T138T; rs2228622

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

---

Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: N/A

PubMed Link: 25333361

Variant Present in the following documents:

View BVdb publication page

---

Screening for 392 polymorphisms in 141 pharmacogenes.

Biomedical Reports

Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Tae-Joon TJ; Shin, Hee Jung HJ; Seo, Doo Won DW; Na, Han Sung HS; Chung, Myeon Woo MW; Shin, Hyoung Doo HD

Publication Date: 2014-07

Variant appearance in text: rs2228622

PubMed Link: 24944790

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Pharmacogenomics in psychiatry: the relevance of receptor and transporter polymorphisms.

British Journal Of Clinical Pharmacology

Reynolds, Gavin P GP; McGowan, Olga O OO; Dalton, Caroline F CF

Publication Date: 2014-04

Variant appearance in text: rs2228622

PubMed Link: 24354796

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: SLC1A1: T138T; rs2228622

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD3.xlsx, sheet 1

View BVdb publication page

---

Comorbid obsessive-compulsive symptoms in schizophrenia: contributions of pharmacological and genetic factors.

Frontiers In Pharmacology

Schirmbeck, Frederike F; Zink, Mathias M

Publication Date: 2013

Variant appearance in text: rs2228622

PubMed Link: 23950745

Variant Present in the following documents:

• Main text
• fphar-04-00099.pdf

View BVdb publication page

---

Isoforms of the neuronal glutamate transporter gene, SLC1A1/EAAC1, negatively modulate glutamate uptake: relevance to obsessive-compulsive disorder.

Translational Psychiatry

Porton, B B; Greenberg, B D BD; Askland, K K; Serra, L M LM; Gesmonde, J J; Rudnick, G G; Rasmussen, S A SA; Kao, H-T HT

Publication Date: 2013-05-21

Variant appearance in text: rs2228622

PubMed Link: 23695234

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Functional studies and rare variant screening of SLC1A1/EAAC1 in males with obsessive-compulsive disorder.

Psychiatric Genetics

Veenstra-VanderWeele, Jeremy J; Xu, Tim T; Ruggiero, Alicia M AM; Anderson, Lauren R LR; Jones, Shaine T ST; Himle, Joseph A JA; Kennedy, James L JL; Richter, Margaret A MA; Hanna, Gregory L GL; Arnold, Paul D PD

Publication Date: 2012-10

Variant appearance in text: rs2228622

PubMed Link: 22617815

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genomics and pharmacogenomics of schizophrenia.

Cns Neuroscience & Therapeutics

Cacabelos, Ramón R; Martínez-Bouza, Rocío R

Publication Date: 2011-10

Variant appearance in text: rs2228622

PubMed Link: 20718829

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Selected summaries from the XVI World Congress of Psychiatric Genetics, Osaka, Japan, 11-15 October 2008.

Psychiatric Genetics

Bergen, Sarah S; Chen, Jingchun J; Dagdan, Elif E; Foon, Tee Shiau TS; Goes, Fernando S FS; Houlihan, Lorna M LM; Kloiber, Stefan S; Kumar, Ravinesh A RA; Kuzman, Martina Rojnic MR; Menke, Andreas A; Pedroso, Inti I; Videtic, Alja A; Villafuerte, Sandra S; DeLisi, Lynn E LE

Publication Date: 2009-10

Variant appearance in text: rs2228622

PubMed Link: 19661838

Variant Present in the following documents:

• Main text

View BVdb publication page

---