Publications:

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: SLC19A2: 515G>A; Gly172Asp

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: SLC19A2: 515G>A; Gly172Asp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Nature Communications

Cong, Pei-Kuan PK; Bai, Wei-Yang WY; Li, Jin-Chen JC; Yang, Meng-Yuan MY; Khederzadeh, Saber S; Gai, Si-Rui SR; Li, Nan N; Liu, Yu-Heng YH; Yu, Shi-Hui SH; Zhao, Wei-Wei WW; Liu, Jun-Quan JQ; Sun, Yi Y; Zhu, Xiao-Wei XW; Zhao, Pian-Pian PP; Xia, Jiang-Wei JW; Guan, Peng-Lin PL; Qian, Yu Y; Tao, Jian-Guo JG; Xu, Lin L; Tian, Geng G; Wang, Ping-Yu PY; Xie, Shu-Yang SY; Qiu, Mo-Chang MC; Liu, Ke-Qi KQ; Tang, Bei-Sha BS; Zheng, Hou-Feng HF

Publication Date: 2022-05-26

Variant appearance in text: SLC19A2: 515G>A; G172D; rs28937595

PubMed Link: 35618720

Variant Present in the following documents:

• 41467_2022_30526_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope.

Molecular Therapy. Nucleic Acids

Villiger, Lukas L; Schmidheini, Lukas L; Mathis, Nicolas N; Rothgangl, Tanja T; Marquart, Kim K; Schwank, Gerald G

Publication Date: 2021-12-03

Variant appearance in text: SLC19A2: 515G>A; Gly172Asp

PubMed Link: 34631280

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome.

Frontiers In Pediatrics

Kang, Pengjiang P; Zhang, Weihua W; Wen, Jinquan J; Zhang, Jiming J; Li, Fei F; Sun, Wuxia W

Publication Date: 2021

Variant appearance in text: TRMA: 515G>A

PubMed Link: 33816400

Variant Present in the following documents:

• Main text
• fped-09-630329.pdf

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: SLC19A2: 515G>A; Gly172Asp; rs28937595

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: SLC19A2: G172D

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM6_ESM.xlsx, sheet 3

View BVdb publication page

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Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.

Diabetologia

Habeb, Abdelhadi M AM; Flanagan, Sarah E SE; Zulali, Mohamed A MA; Abdullah, Mohamed A MA; Pomahačová, Renata R; Boyadzhiev, Veselin V; Colindres, Lesby E LE; Godoy, Guillermo V GV; Vasanthi, Thiruvengadam T; Al Saif, Ramlah R; Setoodeh, Aria A; Haghighi, Amirreza A; Haghighi, Alireza A; Shaalan, Yomna Y; , ; Hattersley, Andrew T AT; Ellard, Sian S; De Franco, Elisa E

Publication Date: 2018-05

Variant appearance in text: SLC19A2: G172D

PubMed Link: 29450569

Variant Present in the following documents:

• Main text
• 125_2018_Article_4554.pdf
• 125_2018_4554_MOESM1_ESM.pdf

View BVdb publication page

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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: SLC19A2: G172D; rs28937595

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SLC19A2: G172D

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

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Identification of a SLC19A2 nonsense mutation in Persian families with thiamine-responsive megaloblastic anemia.

Gene

Setoodeh, Aria A; Haghighi, Amirreza A; Saleh-Gohari, Nasrollah N; Ellard, Sian S; Haghighi, Alireza A

Publication Date: 2013-05-01

Variant appearance in text: SLC19A2: 515G>A

PubMed Link: 23454484

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update.

The Journal Of Pediatrics

Bergmann, Anke K AK; Sahai, Inderneel I; Falcone, Jill F JF; Fleming, Judy J; Bagg, Adam A; Borgna-Pignati, Caterina C; Casey, Robin R; Fabris, Luca L; Hexner, Elizabeth E; Mathews, Lulu L; Ribeiro, Maria Leticia ML; Wierenga, Klaas J KJ; Neufeld, Ellis J EJ

Publication Date: 2009-12

Variant appearance in text: SLC19A2: G172D

PubMed Link: 19643445

Variant Present in the following documents:

• Main text

View BVdb publication page

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Vitamin B1 (thiamine) uptake by human retinal pigment epithelial (ARPE-19) cells: mechanism and regulation.

The Journal Of Physiology

Subramanian, Veedamali S VS; Mohammed, Zainab M ZM; Molina, Andres A; Marchant, Jonathan S JS; Vaziri, Nosratola D ND; Said, Hamid M HM

Publication Date: 2007-07-01

Variant appearance in text: TRMA: G172D

PubMed Link: 17463047

Variant Present in the following documents:

• Main text

View BVdb publication page

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