Publications:

Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing.

International Journal Of Neonatal Screening

Adhikari, Aashish N AN; Currier, Robert J RJ; Tang, Hao H; Turgeon, Coleman T CT; Nussbaum, Robert L RL; Srinivasan, Rajgopal R; Sunderam, Uma U; Kwok, Pui-Yan PY; Brenner, Steven E SE; Gavrilov, Dimitar D; Puck, Jennifer M JM; Gallagher, Renata R

Publication Date: 2020-06

Variant appearance in text: ACADS: 981_983del

PubMed Link: 32802992

Variant Present in the following documents:

• IJNS-06-00041-s001.pdf

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: ACADS: 981_983delGAC; Thr328del

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation.

Bba Clinical

Tonin, Rodolfo R; Caciotti, Anna A; Funghini, Silvia S; Pasquini, Elisabetta E; Mooney, Sean D SD; Cai, Binghuang B; Proncopio, Elena E; Donati, Maria Alice MA; Baronio, Federico F; Bettocchi, Ilaria I; Cassio, Alessandra A; Biasucci, Giacomo G; Bordugo, Andrea A; la Marca, Giancarlo G; Guerrini, Renzo R; Morrone, Amelia A

Publication Date: 2016-06

Variant appearance in text: ACADS: 981_983delGAC

PubMed Link: 27051597

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page