Publications:

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Reconstruction of the personal information from human genome reads in gut metagenome sequencing data.

Nature Microbiology

Tomofuji, Yoshihiko Y; Sonehara, Kyuto K; Kishikawa, Toshihiro T; Maeda, Yuichi Y; Ogawa, Kotaro K; Kawabata, Shuhei S; Nii, Takuro T; Okuno, Tatsusada T; Oguro-Igashira, Eri E; Kinoshita, Makoto M; Takagaki, Masatoshi M; Yamamoto, Kenichi K; Kurakawa, Takashi T; Yagita-Sakamaki, Mayu M; Hosokawa, Akiko A; Motooka, Daisuke D; Matsumoto, Yuki Y; Matsuoka, Hidetoshi H; Yoshimura, Maiko M; Ohshima, Shiro S; Nakamura, Shota S; Inohara, Hidenori H; Kishima, Haruhiko H; Mochizuki, Hideki H; Takeda, Kiyoshi K; Kumanogoh, Atsushi A; Okada, Yukinori Y

Publication Date: 2023-05-15

Variant appearance in text: ACADS: G108D

PubMed Link: 37188815

Variant Present in the following documents:

• 41564_2023_Article_1381.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: Gly108Asp

PubMed Link: 36544340

Variant Present in the following documents:

• alm-43-3-280-supple.xlsx, sheet 2

View BVdb publication page

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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: 323G>A

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Cyst fluid metabolites distinguish malignant from benign pancreatic cysts.

Neoplasia (New York, N.Y.)

Shi, Jiaqi J; Yi, Zhujun Z; Jin, Lin L; Zhao, Lili L; Raskind, Alexander A; Yeomans, Larisa L; Nwosu, Zeribe C ZC; Simeone, Diane M DM; Lyssiotis, Costas A CA; Stringer, Kathleen A KA; Kwon, Richard S RS

Publication Date: 2021-11

Variant appearance in text: ACADS: G108D

PubMed Link: 34583246

Variant Present in the following documents:

• main.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: G108D

PubMed Link: 29869463

Variant Present in the following documents:

• ymj-59-652.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: SCAD: G108D

PubMed Link: 28649538

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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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: SCAD: G108D

PubMed Link: 28018444

Variant Present in the following documents:

• Main text
• kjped-59-S45.pdf

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