Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: ACADS: 164C>T; Pro55Leu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of China.

Molecular Genetics & Genomic Medicine

Men, Shuai S; Liu, Shuang S; Zheng, Qin Q; Yang, Shuting S; Mao, Huafen H; Wang, Zhiwei Z; Gu, Ying Y; Tang, Xinxin X; Wang, Leilei L

Publication Date: 2023-02-14

Variant appearance in text: ACADS: P55L

PubMed Link: 36787440

Variant Present in the following documents:

• Main text
• MGG3-11-e2152.pdf

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Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.

Annals Of Laboratory Medicine

Kim, Man Jin MJ; Kim, Soo Yeon SY; Lee, Jin Sook JS; Kang, Sanggoo S; Park, Lae-Jeong LJ; Choi, Wooyong W; Jung, Ju Yeol JY; Kim, Taehyung T; Park, Sung Sup SS; Ko, Jung Min JM; Seong, Moon-Woo MW; Chae, Jong Hee JH

Publication Date: 2023-05-01

Variant appearance in text: ACADS: 164C>T

PubMed Link: 36544340

Variant Present in the following documents:

• alm-43-3-280.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: ACADS: 164C>T

PubMed Link: 36246604

Variant Present in the following documents:

• Main text
• fgene-13-801447.pdf

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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: ACADS: 164C>T

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1
• 13023_2022_Article_2231.pdf

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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: 164C>T

PubMed Link: 34869113

Variant Present in the following documents:

• Main text
• fped-09-757424.pdf

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Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in Jining, Shandong province.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal Of Zhejiang University. Medical Sciences

Yang, Chiju C; Shi, Caihong C; Zhou, Cheng C; Wan, Qiuhua Q; Zhou, Yanbin Y; Chen, Xigui X; Jin, Xianlian X; Huang, Chenggang C; Xu, Peng P

Publication Date: 2021-08-25

Variant appearance in text: ACADS: 164C>T; P55L

PubMed Link: 34704412

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: 164C>T; Pro55Leu; rs147442301

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population.

Scientific Reports

Zhang, Ruixue R; Qiang, Rong R; Song, Chengrong C; Ma, Xiaoping X; Zhang, Yan Y; Li, Fengxia F; Wang, Rui R; Yu, Wenwen W; Feng, Mei M; Yang, Lihui L; Wang, Xiaobin X; Cai, Na N

Publication Date: 2021-01-29

Variant appearance in text: ACADS: 164C>T; Pro55Leu

PubMed Link: 33514801

Variant Present in the following documents:

• Main text
• 41598_2021_Article_81897.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: 164C>T; Pro55Leu; rs147442301

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: ACADS: 164C>T; Pro55Leu; rs147442301

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15

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Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.

Frontiers In Genetics

Wang, Ting T; Ma, Jun J; Zhang, Qin Q; Gao, Ang A; Wang, Qi Q; Li, Hong H; Xiang, Jingjing J; Wang, Benjing B

Publication Date: 2019

Variant appearance in text: ACADS: 164C>T

PubMed Link: 31737040

Variant Present in the following documents:

• Main text
• fgene-10-01052.pdf

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New Ratios for Performance Improvement for Identifying Acyl-CoA Dehydrogenase Deficiencies in Expanded Newborn Screening: A Retrospective Study.

Frontiers In Genetics

Wang, Benjing B; Zhang, Qin Q; Gao, Ang A; Wang, Qi Q; Ma, Jun J; Li, Hong H; Wang, Ting T

Publication Date: 2019

Variant appearance in text: ACADS: 164C>T

PubMed Link: 31620161

Variant Present in the following documents:

• Main text
• fgene-10-00811.pdf

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: ACADS: 164C>T; Pro55Leu

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.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: 164C>T; P55L

PubMed Link: 30612563

Variant Present in the following documents:

• Main text
• 12881_2018_Article_731.pdf

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A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases.

Yonsei Medical Journal

Ko, Jung Min JM; Park, Kyung Sun KS; Kang, Yeeok Y; Nam, Seong Hyeuk SH; Kim, Yoonjung Y; Park, Inho I; Chae, Hyun Wook HW; Lee, Soon Min SM; Lee, Kyung A KA; Kim, Jong Won JW

Publication Date: 2018-07

Variant appearance in text: ACADS: 164C>T; Pro55Leu

PubMed Link: 29869463

Variant Present in the following documents:

• Main text

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Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population.

Frontiers In Genetics

Guo, Kejian K; Zhou, Xuan X; Chen, Xigui X; Wu, Yili Y; Liu, Chuanxin C; Kong, Qingsheng Q

Publication Date: 2018

Variant appearance in text: ACADS: P55L

PubMed Link: 29731766

Variant Present in the following documents:

• Main text
• fgene-09-00122.pdf

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Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.

Bmc Pediatrics

Kang, Eungu E; Kim, Yoon-Myung YM; Kang, Minji M; Heo, Sun-Hee SH; Kim, Gu-Hwan GH; Choi, In-Hee IH; Choi, Jin-Ho JH; Yoo, Han-Wook HW; Lee, Beom Hee BH

Publication Date: 2018-03-08

Variant appearance in text: ACADS: P55L

PubMed Link: 29519241

Variant Present in the following documents:

• Main text
• 12887_2018_Article_1069.pdf

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Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders.

Molecular Genetics And Metabolism Reports

Yamamoto, Takuma T; Mishima, Hiroyuki H; Mizukami, Hajime H; Fukahori, Yuki Y; Umehara, Takahiro T; Murase, Takehiko T; Kobayashi, Masamune M; Mori, Shinjiro S; Nagai, Tomonori T; Fukunaga, Tatsushige T; Yamaguchi, Seiji S; Yoshiura, Koh-Ichiro KI; Ikematsu, Kazuya K

Publication Date: 2015-12

Variant appearance in text: ACADS: P55L

PubMed Link: 28649538

Variant Present in the following documents:

• Main text

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Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family.

Orphanet Journal Of Rare Diseases

Chow, Yock-Ping YP; Abdul Murad, Nor Azian NA; Mohd Rani, Zamzureena Z; Khoo, Jia-Shiun JS; Chong, Pei-Sin PS; Wu, Loo-Ling LL; Jamal, Rahman R

Publication Date: 2017-02-21

Variant appearance in text: ACADS: 164C>T; P55L; rs147442301

PubMed Link: 28222800

Variant Present in the following documents:

• 13023_2017_575_MOESM2_ESM.xlsx, sheet 1

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Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review.

Korean Journal Of Pediatrics

An, Se Jin SJ; Kim, Sook Za SZ; Kim, Gu Hwan GH; Yoo, Han Wook HW; Lim, Han Hyuk HH

Publication Date: 2016-11

Variant appearance in text: ACADS: 164C>T

PubMed Link: 28018444

Variant Present in the following documents:

• Main text
• kjped-59-S45.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: ACADS: P55L

PubMed Link: 27578510

Variant Present in the following documents:

• alm-36-561-s011.pdf

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: ACADS: P55L

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

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Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.

Plos One

Liu, Yanqiu Y; Wei, Xiaoming X; Kong, Xiangdong X; Guo, Xueqin X; Sun, Yan Y; Man, Jianfen J; Du, Lique L; Zhu, Hui H; Qu, Zelan Z; Tian, Ping P; Mao, Bing B; Yang, Yun Y

Publication Date: 2015

Variant appearance in text: ACADS: 164C>T

PubMed Link: 26274329

Variant Present in the following documents:

• Main text
• pone.0133636.pdf

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