Publications:

A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China.

World Journal Of Pediatrics : Wjp

Yang, Ru-Lai RL; Qian, Gu-Ling GL; Wu, Ding-Wen DW; Miao, Jing-Kun JK; Yang, Xue X; Wu, Ben-Qing BQ; Yan, Ya-Qiong YQ; Li, Hai-Bo HB; Mao, Xin-Mei XM; He, Jun J; Shen, Huan H; Zou, Hui H; Xue, Shu-Yuan SY; Li, Xiao-Ze XZ; Niu, Ting-Ting TT; Xiao, Rui R; Zhao, Zheng-Yan ZY

Publication Date: 2023-02-27

Variant appearance in text: ACADSB: 655G>A

PubMed Link: 36847978

Variant Present in the following documents:

• 12519_2022_Article_670.pdf

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Expanded newborn screening for inherited metabolic disorders by tandem mass spectrometry in a northern Chinese population.

Frontiers In Genetics

Zhang, Hong H; Wang, Yanyun Y; Qiu, Yali Y; Zhang, Chao C

Publication Date: 2022

Variant appearance in text: ACADSB: 655G>A

PubMed Link: 36246604

Variant Present in the following documents:

• Main text
• fgene-13-801447.pdf

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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: ACADSB: V219M; rs553730391

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

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Biochemical, Clinical, and Genetic Characteristics of Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients by Newborn Screening.

Frontiers In Genetics

Lin, Yiming Y; Gao, Hongzhi H; Lin, Chunmei C; Chen, Yanru Y; Zhou, Shuang S; Lin, Weihua W; Zheng, Zhenzhu Z; Li, Xiaoqing X; Li, Min M; Fu, Qingliu Q

Publication Date: 2019

Variant appearance in text: SBCAD: 655G>A

PubMed Link: 31555323

Variant Present in the following documents:

• Main text
• fgene-10-00802.pdf

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A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.

Annals Of Laboratory Medicine

Park, Kyoung Jin KJ; Park, Seungman S; Lee, Eunhee E; Park, Jong Ho JH; Park, June Hee JH; Park, Hyung Doo HD; Lee, Soo Youn SY; Kim, Jong Won JW

Publication Date: 2016-11

Variant appearance in text: ACADSB: V219M

PubMed Link: 27578510

Variant Present in the following documents:

• alm-36-561-s011.pdf

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