Publications:

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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: ATP6V0A2: 187C>T; Arg63Ter

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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Aguascalientes: one of the hottest chronic kidney disease (CKD) hotspots in Mexico and a CKD of unknown aetiology mystery to be solved.

Clinical Kidney Journal

Villalvazo, Priscila P; Carriazo, Sol S; Martin-Cleary, Catalina C; Ortiz, Alberto A

Publication Date: 2021-11

Variant appearance in text: ATP6V0A2: 187C>T; Arg63Ter

PubMed Link: 34754425

Variant Present in the following documents:

• Main text
• sfab136.pdf

View BVdb publication page

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Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation.

International Journal Of Molecular Sciences

Linders, Peter T A PTA; Peters, Ella E; Ter Beest, Martin M; Lefeber, Dirk J DJ; van den Bogaart, Geert G

Publication Date: 2020-06-30

Variant appearance in text: ATP6V0A2: R63X

PubMed Link: 32629928

Variant Present in the following documents:

• Main text

View BVdb publication page

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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: ATP6V0A2: 187C>T; Arg63*

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

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: ATP6V0A2: 187C>T; Arg63*; rs80356750

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: ATP6V0A2: 187C>T; Arg63Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA.

Molecular Genetics And Metabolism Reports

Bahena-Bahena, D D; López-Valdez, J J; Raymond, K K; Salinas-Marín, R R; Ortega-García, A A; Ng, B G BG; Freeze, H H HH; Ruíz-García, M M; Martínez-Duncker, I I

Publication Date: 2014

Variant appearance in text: ATP6V0A2: 187C>T; R63X

PubMed Link: 27896089

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Genome resequencing and bioinformatic analysis of SNP containing candidate genes in the autoimmune vitiligo Smyth line chicken model.

Bmc Genomics

Jang, Hyeon-Min HM; Erf, Gisela F GF; Rowland, Kaylee C KC; Kong, Byung-Whi BW

Publication Date: 2014-08-23

Variant appearance in text: ATP6V0A2: R63*; rs80356750

PubMed Link: 25151476

Variant Present in the following documents:

• Main text
• 12864_2013_Article_6386.pdf

View BVdb publication page

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Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression.

Journal Of Inherited Metabolic Disease

Achouitar, Samira S; Mohamed, Miski M; Gardeitchik, Thatjana T; Wortmann, Saskia B SB; Sykut-Cegielska, Jolanta J; Ensenauer, Regina R; de Baulny, Hélène Ogier HO; Õunap, Katrin K; Martinelli, Diego D; de Vries, Maaike M; McFarland, Robert R; Kouwenberg, Dorus D; Theodore, Miranda M; Wijburg, Frits F; Grünewald, Stephanie S; Jaeken, Jaak J; Wevers, Ron A RA; Nijtmans, Leo L; Elson, Joanna J; Morava, Eva E

Publication Date: 2011-08

Variant appearance in text: ATP6V0A2: 187C>T; R63x

PubMed Link: 21541726

Variant Present in the following documents:

• 10545_2011_Article_9325.pdf

View BVdb publication page

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