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: STK36: 1137-17T>C; rs2303565

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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An Integrative Transcriptome-Wide Analysis of Amyotrophic Lateral Sclerosis for the Identification of Potential Genetic Markers and Drug Candidates.

International Journal Of Molecular Sciences

Park, Sungmin S; Kim, Daeun D; Song, Jaeseung J; Joo, Jong Wha J JWJ

Publication Date: 2021-03-22

Variant appearance in text: rs2303565

PubMed Link: 33809961

Variant Present in the following documents:

• Main text
• ijms-22-03216.pdf

View BVdb publication page

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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: rs2303565

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Pharmacogenomics of Cognitive Dysfunction and Neuropsychiatric Disorders in Dementia.

International Journal Of Molecular Sciences

Cacabelos, Ramon R

Publication Date: 2020-04-26

Variant appearance in text: rs2303565

PubMed Link: 32357528

Variant Present in the following documents:

• Main text
• ijms-21-03059.pdf

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: STK36: 1137-17T>C; rs2303565

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

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: rs2303565

PubMed Link: 26549847

Variant Present in the following documents:

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

View BVdb publication page

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Mapping eQTLs in the Norfolk Island genetic isolate identifies candidate genes for CVD risk traits.

American Journal Of Human Genetics

Benton, Miles C MC; Lea, Rod A RA; Macartney-Coxson, Donia D; Carless, Melanie A MA; Göring, Harald H HH; Bellis, Claire C; Hanna, Michelle M; Eccles, David D; Chambers, Geoffrey K GK; Curran, Joanne E JE; Harper, Jacquie L JL; Blangero, John J; Griffiths, Lyn R LR

Publication Date: 2013-12-05

Variant appearance in text: rs2303565

PubMed Link: 24314549

Variant Present in the following documents:

• Main text

View BVdb publication page

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Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

Neurobiology Of Aging

Ahmeti, Kreshnik B KB; Ajroud-Driss, Senda S; Al-Chalabi, Ammar A; Andersen, Peter M PM; Armstrong, Jennifer J; Birve, Anne A; Blauw, Hylke M HM; Brown, Robert H RH; Bruijn, Lucie L; Chen, Wenjie W; Chio, Adriano A; Comeau, Mary C MC; Cronin, Simon S; Diekstra, Frank P FP; Soraya Gkazi, Athina A; Glass, Jonathan D JD; Grab, Josh D JD; Groen, Ewout J EJ; Haines, Jonathan L JL; Hardiman, Orla O; Heller, Scott S; Huang, Jie J; Hung, Wu-Yen WY; , ; Jaworski, James M JM; Jones, Ashley A; Khan, Humaira H; Landers, John E JE; Langefeld, Carl D CD; Leigh, P Nigel PN; Marion, Miranda C MC; McLaughlin, Russell L RL; Meininger, Vincent V; Melki, Judith J; Miller, Jack W JW; Mora, Gabriele G; Pericak-Vance, Margaret A MA; Rampersaud, Evadnie E; Robberecht, Wim W; Russell, Laurie P LP; Salachas, Francois F; Saris, Christiaan G CG; Shatunov, Aleksey A; Shaw, Christopher E CE; Siddique, Nailah N; Siddique, Teepu T; Smith, Bradley N BN; Sufit, Robert R; Topp, Simon S; Traynor, Bryan J BJ; Vance, Caroline C; van Damme, Philip P; van den Berg, Leonard H LH; van Es, Michael A MA; van Vught, Paul W PW; Veldink, Jan H JH; Yang, Yi Y; Zheng, J G JG; ,

Publication Date: 2013-01

Variant appearance in text: rs2303565

PubMed Link: 22959728

Variant Present in the following documents:

• Main text

View BVdb publication page

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