Publications:

Phosphoproteomic profiling of T cell acute lymphoblastic leukemia reveals targetable kinases and combination treatment strategies.

Nature Communications

Cordo', Valentina V; Meijer, Mariska T MT; Hagelaar, Rico R; de Goeij-de Haas, Richard R RR; Poort, Vera M VM; Henneman, Alex A AA; Piersma, Sander R SR; Pham, Thang V TV; Oshima, Koichi K; Ferrando, Adolfo A AA; Zaman, Guido J R GJR; Jimenez, Connie R CR; Meijerink, Jules P P JPP

Publication Date: 2022-02-25

Variant appearance in text: ACADS: A385T

PubMed Link: 35217681

Variant Present in the following documents:

• 41467_2022_28682_MOESM4_ESM.xlsx, sheet 1

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Quantification of Differential Metabolites in Dried Blood Spots Using Second-Tier Testing for SCADD/IBDD Disorders Based on Large-Scale Newborn Screening in a Chinese Population.

Frontiers In Pediatrics

Zhou, Wei W; Cai, Heng H; Li, Huizhong H; Ji, Zhe Z; Gu, Maosheng M

Publication Date: 2021

Variant appearance in text: ACADS: 1153G>A

PubMed Link: 34869113

Variant Present in the following documents:

• Main text

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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: ACADS: 1153G>A; Ala385Thr; rs202124189

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: 1153G>A; A385T

PubMed Link: 30612563

Variant Present in the following documents:

• Main text
• 12881_2018_Article_731.pdf

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