Publications:

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: ACADS: 65G>A; Trp22Ter; rs774970155

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.

Bmc Medical Genetics

Wang, Wenjie W; Yang, Jianping J; Xue, Jinjie J; Mu, Wenjuan W; Zhang, Xiaogang X; Wu, Wang W; Xu, Mengnan M; Gong, Yuyan Y; Liu, Yiqian Y; Zhang, Yu Y; Xie, Xiaobing X; Gu, Weiyue W; Bai, Jigeng J; Cram, David S DS

Publication Date: 2019-01-06

Variant appearance in text: ACADS: W22X

PubMed Link: 30612563

Variant Present in the following documents:

• Main text
• 12881_2018_Article_731.pdf

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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: W22*

PubMed Link: 27051597

Variant Present in the following documents:

• Main text
• main.pdf

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