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: SLC25A20: 713A>G; Gln238Arg

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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One potential hotspot SLC25A20 gene variants in Chinese patients with carnitine-acylcarnitine translocase deficiency.

Frontiers In Pediatrics

Li, Xiaoli X; Shen, Jian J

Publication Date: 2022

Variant appearance in text: SLC25A20: 713A>G

PubMed Link: 36419912

Variant Present in the following documents:

• fped-10-1029004.pdf

View BVdb publication page

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: SLC25A20: 713A>G

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.

Biomolecules

Marra, Federica F; Lunetti, Paola P; Curcio, Rosita R; Lasorsa, Francesco Massimo FM; Capobianco, Loredana L; Porcelli, Vito V; Dolce, Vincenza V; Fiermonte, Giuseppe G; Scarcia, Pasquale P

Publication Date: 2021-11-04

Variant appearance in text: SLC25A20: Q238R

PubMed Link: 34827632

Variant Present in the following documents:

• Main text
• biomolecules-11-01633.pdf

View BVdb publication page

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Late-Onset Carnitine-Acylcarnitine Translocase Deficiency With SLC25A20 c.199-10T>G Variation: Case Report and Pathologic Analysis of Liver Biopsy.

Frontiers In Pediatrics

Chen, Min M; Cai, Yao Y; Li, Sitao S; Xiong, Hui H; Liu, Mengxian M; Ma, Fei F; Xiao, Xin X; Hao, Hu H

Publication Date: 2020

Variant appearance in text: CACT: 713A>G

PubMed Link: 33194920

Variant Present in the following documents:

• Main text
• fped-08-585646.pdf

View BVdb publication page

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: SLC25A20: 713A>G; Gln238Arg

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.

Biomolecules

Palmieri, Ferdinando F; Scarcia, Pasquale P; Monné, Magnus M

Publication Date: 2020-04-23

Variant appearance in text: SLC25A20: 713A>G; Gln238Arg

PubMed Link: 32340404

Variant Present in the following documents:

• biomolecules-10-00655-s001.pdf

View BVdb publication page

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Peripheral venous route for administration of ammonul infusion for treatment of acute hyperammonemia. An experience from a tertiary center in Saudi Arabia.

Saudi Medical Journal

Alhashem, Amal M AM; Salih, Rihab M RM; Al-Aqeel, Aida I AI; Mohamed, Sarar S

Publication Date: 2020-01

Variant appearance in text: SLC25A20: 713A>G

PubMed Link: 31915802

Variant Present in the following documents:

• SaudiMedJ-41-98.pdf

View BVdb publication page

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The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?

Israel Journal Of Health Policy Research

Zlotogora, Joël J

Publication Date: 2019-12-16

Variant appearance in text: SLC25A20: 713A>G; Gln238Arg

PubMed Link: 31839005

Variant Present in the following documents:

• 13584_2019_345_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Transcriptomic signature reveals mechanism of flower bud distortion in witches'-broom disease of soybean (Glycine max).

Bmc Plant Biology

Jaiswal, Sarika S; Jadhav, Pravin V PV; Jasrotia, Rahul Singh RS; Kale, Prashant B PB; Kad, Snehal K SK; Moharil, Mangesh P MP; Dudhare, Mahendra S MS; Kheni, Jashminkumar J; Deshmukh, Amit G AG; Mane, Shyamsundar S SS; Nandanwar, Ravindra S RS; Penna, Suprasanna S; Manjaya, Joy G JG; Iquebal, Mir Asif MA; Tomar, Rukam Singh RS; Kawar, Prashant G PG; Rai, Anil A; Kumar, Dinesh D

Publication Date: 2019-01-15

Variant appearance in text: CACT: 713A>G

PubMed Link: 30646861

Variant Present in the following documents:

• 12870_2018_1601_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle.

Reviews In Endocrine & Metabolic Disorders

Knottnerus, Suzan J G SJG; Bleeker, Jeannette C JC; Wüst, Rob C I RCI; Ferdinandusse, Sacha S; IJlst, Lodewijk L; Wijburg, Frits A FA; Wanders, Ronald J A RJA; Visser, Gepke G; Houtkooper, Riekelt H RH

Publication Date: 2018-03

Variant appearance in text: SLC25A20: 713A>G

PubMed Link: 29926323

Variant Present in the following documents:

• Main text
• 11154_2018_Article_9448.pdf

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: SLC25A20: 713A>G; Gln238Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: SLC25A20: Q238R; rs28934589

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: SLC25A20: Q238R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature.

Jimd Reports

Vitoria, Isidro I; Martín-Hernández, Elena E; Peña-Quintana, Luis L; Bueno, María M; Quijada-Fraile, Pilar P; Dalmau, Jaime J; Molina-Marrero, Sofia S; Pérez, Belén B; Merinero, Begoña B

Publication Date: 2015

Variant appearance in text: SLC25A20: 713A>G

PubMed Link: 25614308

Variant Present in the following documents:

• Main text

View BVdb publication page

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The effect of valinomycin in fibroblasts from patients with fatty acid oxidation disorders.

Biochemical And Biophysical Research Communications

Ndukwe Erlingsson, Uzochi Chimdinma UC; Iacobazzi, Francesco F; Liu, Aiping A; Ardon, Orly O; Pasquali, Marzia M; Longo, Nicola N

Publication Date: 2013-08-09

Variant appearance in text: CACT: Q238R

PubMed Link: 23867825

Variant Present in the following documents:

• Main text

View BVdb publication page

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