Publications:

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Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.

Orphanet Journal Of Rare Diseases

Guo, Yongchao Y; Jiang, Jianhui J; Xu, Zhongyao Z

Publication Date: 2023-06-12

Variant appearance in text: CPS1: 1631C>T; Thr544Met

PubMed Link: 37308883

Variant Present in the following documents:

• 13023_2023_2726_MOESM2_ESM.xlsx, sheet 1
• 13023_2023_2726_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Novel pathogenic variant (c.2947C > T) of the carbamoyl phosphate synthetase 1 gene in neonatal-onset deficiency.

Frontiers In Neuroscience

Bai, Ruimiao R; He, ALing A; Guo, Jinzhen J; Li, Zhankui Z; Yu, Xiping X; Zeng, JunAn J; Mi, Yang Y; Wang, Lin L; Zhang, Jingjing J; Yang, Dong D

Publication Date: 2022

Variant appearance in text: CPS1: 1631C>T; T544M

PubMed Link: 36340787

Variant Present in the following documents:

• Main text
• fnins-16-1025572.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: CPS1: 1631C>T

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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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: CPS1: T544M; rs121912592

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8

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A 36-year-old Man with Repeated Short-term Transient Hyperammonemia and Impaired Consciousness with a Confirmed Carbamoyl Phosphate Synthase 1 Gene Monoallelic Mutation.

Internal Medicine (Tokyo, Japan)

Ishikawa, Ruoyi R; Sugimoto, Takamichi T; Abe, Takafumi T; Ohno, Narumi N; Tazuma, Taku T; Giga, Mayumi M; Naito, Hiroyuki H; Kono, Tomoyuki T; Nomura, Eiichi E; Hara, Keiichi K; Yorifuji, Tohru T; Yamawaki, Takemori T

Publication Date: 2022-05-01

Variant appearance in text: CPS1: 1631C>T

PubMed Link: 34670888

Variant Present in the following documents:

• 1349-7235-61-1387.pdf

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: rs121912592

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: CPS1: T544M

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2

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: rs121912592

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Novel Neonatal Variants of the Carbamoyl Phosphate Synthetase 1 Deficiency: Two Case Reports and Review of Literature.

Frontiers In Genetics

Yan, Beibei B; Wang, Chao C; Zhang, Kaihui K; Zhang, Haiyan H; Gao, Min M; Lv, Yuqiang Y; Li, Xiaoying X; Liu, Yi Y; Gai, Zhongtao Z

Publication Date: 2019

Variant appearance in text: CPS1: 1631C>T; T544M

PubMed Link: 31507628

Variant Present in the following documents:

• Main text
• fgene-10-00718.pdf

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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: CPS1: T544M

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations.

Human Mutation

Häberle, Johannes J; Shchelochkov, Oleg A OA; Wang, Jing J; Katsonis, Panagiotis P; Hall, Lynn L; Reiss, Sara S; Eeds, Angela A; Willis, Alecia A; Yadav, Meeta M; Summar, Samantha S; , ; Lichtarge, Olivier O; Rubio, Vicente V; Wong, Lee-Jun LJ; Summar, Marshall M

Publication Date: 2011-06

Variant appearance in text: CPS1: 1631C>T; T544M

PubMed Link: 21120950

Variant Present in the following documents:

• Main text

View BVdb publication page

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