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: GAA: 1316T>A; Met439Lys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Induced pluripotent stem cell for modeling Pompe disease.

Frontiers In Cardiovascular Medicine

Huang, Wenjun W; Zhang, Yanmin Y; Zhou, Rui R

Publication Date: 2022

Variant appearance in text: GAA: 1316T>A

PubMed Link: 36620633

Variant Present in the following documents:

• Main text
• fcvm-09-1061384.pdf

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Late-onset Pompe disease with a novel mutation and a rare phenotype: A case report.

Cns Neuroscience & Therapeutics

Si, Xiaoli X; Zhang, Ruoxia R; Yan, Shengqiang S; Zhao, Guohua G; Yin, Xinzhen X; Zhang, Baorong B

Publication Date: 2022-10

Variant appearance in text: GAA: 1316T>A

PubMed Link: 35795986

Variant Present in the following documents:

• Main text
• CNS-28-1651.pdf

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Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study.

Eclinicalmedicine

Chan, Wenxiu W; Yang, Shiwei S; Wang, Jian J; Tong, Shilu S; Lin, Minyin M; Lu, Pengtao P; Yao, Ruen R; Wu, Lanping L; Chen, Lijun L; Guo, Ying Y; Shen, Jie J; Liu, Tingliang T; Li, Fen F; Chen, Huiwen H; Zhang, Hao H; Wang, Shushui S; Fu, Lijun L

Publication Date: 2022-07

Variant appearance in text: GAA: 1316T>A; Met439Lys

PubMed Link: 35747179

Variant Present in the following documents:

• mmc1.pdf

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Current status of newborn screening for Pompe disease in Japan.

Orphanet Journal Of Rare Diseases

Sawada, Takaaki T; Kido, Jun J; Sugawara, Keishin K; Momosaki, Ken K; Yoshida, Shinichiro S; Kojima-Ishii, Kanako K; Inoue, Takahito T; Matsumoto, Shirou S; Endo, Fumio F; Ohga, Shouichi S; Hirose, Shinichi S; Nakamura, Kimitoshi K

Publication Date: 2021-12-18

Variant appearance in text: GAA: M439K; rs747610090

PubMed Link: 34922579

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2146.pdf

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Two Approaches for a Genetic Analysis of Pompe Disease: A Literature Review of Patients with Pompe Disease and Analysis Based on Genomic Data from the General Population.

Children (Basel, Switzerland)

Park, Kyung-Sun KS

Publication Date: 2021-07-16

Variant appearance in text: GAA: 1316T>A; Met439Lys

PubMed Link: 34356580

Variant Present in the following documents:

• Main text
• children-08-00601.pdf

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Inborn errors of metabolism: Lessons from iPSC models.

Reviews In Endocrine & Metabolic Disorders

Escribá, Rubén R; Ferrer-Lorente, Raquel R; Raya, Ángel Á

Publication Date: 2021-12

Variant appearance in text: GAA: 1316T>A

PubMed Link: 34241766

Variant Present in the following documents:

• 11154_2021_9671_MOESM1_ESM.pdf

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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: GAA: 1316T>A; Met439Lys; rs747610090

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants.

Orphanet Journal Of Rare Diseases

Hernández-Arévalo, Paula P; Santotoribio, José D JD; Delarosa-Rodríguez, Rocío R; González-Meneses, Antonio A; García-Morillo, Salvador S; Jiménez-Arriscado, Pilar P; Guerrero, Juan M JM; Macher, Hada C HC

Publication Date: 2021-05-21

Variant appearance in text: GAA: 1316T>A

PubMed Link: 34020684

Variant Present in the following documents:

• Main text
• 13023_2021_Article_1864.pdf

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Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.

Molecular Genetics And Metabolism Reports

Park, Kyung Sun KS

Publication Date: 2021-06

Variant appearance in text: GAA: 1316T>A; Met439Lys

PubMed Link: 33717985

Variant Present in the following documents:

• Main text
• main.pdf
• mmc1.xlsx, sheet 1

View BVdb publication page

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Molecular Diagnosis of Panel-Based Next-Generation Sequencing Approach and Clinical Symptoms in Patients With Glycogen Storage Disease: A Single Center Retrospective Study.

Frontiers In Pediatrics

Ying, Shen S; Zhihua, Zhang Z; Yucan, Zheng Z; Yu, Jin J; Qian, Lin L; Bixia, Zheng Z; Weixia, Cheng C; Zhifeng, Liu L

Publication Date: 2020

Variant appearance in text: GAA: 1316T>A

PubMed Link: 33344388

Variant Present in the following documents:

• Main text
• fped-08-600446.pdf

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: GAA: M439K

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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A Liver Model of Infantile-Onset Pompe Disease Using Patient-Specific Induced Pluripotent Stem Cells.

Frontiers In Cell And Developmental Biology

Yoshida, Takeshi T; Jonouchi, Tatsuya T; Osafune, Kenji K; Takita, Junko J; Sakurai, Hidetoshi H

Publication Date: 2019

Variant appearance in text: GAA: 1316T>A

PubMed Link: 31850350

Variant Present in the following documents:

• Main text
• fcell-07-00316.pdf

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GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Human Mutation

Reuser, Arnold J J AJJ; van der Ploeg, Ans T AT; Chien, Yin-Hsiu YH; Llerena, Juan J; Abbott, Mary-Alice MA; Clemens, Paula R PR; Kimonis, Virginia E VE; Leslie, Nancy N; Maruti, Sonia S SS; Sanson, Bernd-Jan BJ; Araujo, Roberto R; Periquet, Magali M; Toscano, Antonio A; Kishnani, Priya S PS; On Behalf Of The Pompe Registry Sites,

Publication Date: 2019-11

Variant appearance in text: GAA: 1316T>A; Met439Lys

PubMed Link: 31342611

Variant Present in the following documents:

• HUMU-40-2146-s001.pdf

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Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy.

Molecular Genetics And Metabolism Reports

Desai, Ankit K AK; Kazi, Zoheb B ZB; Bali, Deeksha S DS; Kishnani, Priya S PS

Publication Date: 2019-09

Variant appearance in text: GAA: 1316T>A; Met439Lys

PubMed Link: 31193175

Variant Present in the following documents:

• Main text
• main.pdf

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The Korean undiagnosed diseases program: lessons from a one-year pilot project.

Orphanet Journal Of Rare Diseases

Kim, Soo Yeon SY; Lim, Byung Chan BC; Lee, Jin Sook JS; Kim, Woo Joong WJ; Kim, Hyuna H; Ko, Jung Min JM; Kim, Ki Joong KJ; Choi, Sun Ah SA; Kim, Hunmin H; Hwang, Hee H; Choi, Ji Eun JE; Cho, Anna A; Moon, Jangsup J; Seong, Moon Woo MW; Park, Sung Sup SS; Lee, Yun Jeong YJ; Kim, Young Ok YO; Kim, Jon Soo JS; Kim, Won Seop WS; Kwon, Young Se YS; Park, June Dong JD; Ahn, Younjhin Y; Hwang, Joo-Yeon JY; Park, Hyun-Young HY; Lee, Youngha Y; Choi, Murim M; Chae, Jong-Hee JH

Publication Date: 2019-03-20

Variant appearance in text: GAA: 1316T>A

PubMed Link: 30894207

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1041.pdf

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Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center.

Korean Journal Of Pediatrics

Kim, Min-Sun MS; Song, Ari A; Im, Minji M; Huh, June J; Kang, I-Seok IS; Song, Jinyoung J; Yang, Aram A; Kim, Jinsup J; Kwon, Eun-Kyung EK; Choi, Eu-Jin EJ; Han, Sun-Ju SJ; Park, Hyung-Doo HD; Cho, Sung Yoon SY; Jin, Dong-Kyu DK

Publication Date: 2019-06

Variant appearance in text: GAA: 1316T>A; Met439Lys

PubMed Link: 30360039

Variant Present in the following documents:

• Main text

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Cardiomyopathy phenotypes in human-induced pluripotent stem cell-derived cardiomyocytes-a systematic review.

Pflugers Archiv : European Journal Of Physiology

Eschenhagen, Thomas T; Carrier, Lucie L

Publication Date: 2019-05

Variant appearance in text: GAA: 1316T>A

PubMed Link: 30324321

Variant Present in the following documents:

• Main text
• 424_2018_Article_2214.pdf

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Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.

European Journal Of Human Genetics : Ejhg

Zhao, Sumin S; Xiang, Jiale J; Fan, Chunna C; Asan, ; Shang, Xuan X; Zhang, Xinhua X; Chen, Yan Y; Zhu, Baosheng B; Cai, Wangwei W; Chen, Shaoke S; Cai, Ren R; Guo, Xiaoling X; Zhang, Chonglin C; Zhou, Yuqiu Y; Huang, Shuodan S; Liu, Yanhui Y; Chen, Biyan B; Yan, Shanhuo S; Chen, Yajun Y; Ding, Hongmei H; Guo, Fengyu F; Wang, Yaoshen Y; Zhong, Wenwei W; Zhu, Yaping Y; Wang, Yaling Y; Chen, Chao C; Li, Yun Y; Huang, Hui H; Mao, Mao M; Yin, Ye Y; Wang, Jian J; Yang, Huanming H; Xu, Xiangmin X; Sun, Jun J; Peng, Zhiyu Z

Publication Date: 2019-02

Variant appearance in text: GAA: 1316T>A

PubMed Link: 30275481

Variant Present in the following documents:

• 41431_2018_253_MOESM10_ESM.xlsx, sheet 1

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[Research advances in the diagnosis and treatment of Pompe disease].

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics

Zhang, Xin-Tong XT; Ren, Wei-Dong WD

Publication Date: 2018-07

Variant appearance in text: GAA: 1316T>A; M439K

PubMed Link: 30022764

Variant Present in the following documents:

• Main text

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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: GAA: 1316T>A; Met439Lys

PubMed Link: 29869463

Variant Present in the following documents:

• Main text

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A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.

Molecular Genetics And Metabolism Reports

Fukuhara, Yasuyuki Y; Fuji, Naoko N; Yamazaki, Narutoshi N; Hirakiyama, Asami A; Kamioka, Tetsuharu T; Seo, Joo-Hyun JH; Mashima, Ryuichi R; Kosuga, Motomichi M; Okuyama, Torayuki T

Publication Date: 2018-03

Variant appearance in text: GAA: M439K

PubMed Link: 29124014

Variant Present in the following documents:

• Main text
• main.pdf

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A Skeletal Muscle Model of Infantile-onset Pompe Disease with Patient-specific iPS Cells.

Scientific Reports

Yoshida, Takeshi T; Awaya, Tomonari T; Jonouchi, Tatsuya T; Kimura, Ryo R; Kimura, Shigemi S; Era, Takumi T; Heike, Toshio T; Sakurai, Hidetoshi H

Publication Date: 2017-10-18

Variant appearance in text: GAA: 1316T>A

PubMed Link: 29044175

Variant Present in the following documents:

• Main text
• 41598_2017_Article_14063.pdf

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Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes.

Cellular And Molecular Life Sciences : Cmls

Giacomelli, E E; Mummery, C L CL; Bellin, M M

Publication Date: 2017-10

Variant appearance in text: GAA: M439K

PubMed Link: 28573431

Variant Present in the following documents:

• Main text
• 18_2017_Article_2546.pdf

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Human Induced Pluripotent Stem Cells as a Platform for Personalized and Precision Cardiovascular Medicine.

Physiological Reviews

Matsa, Elena E; Ahrens, John H JH; Wu, Joseph C JC

Publication Date: 2016-07

Variant appearance in text: GAA: 1316T>A

PubMed Link: 27335446

Variant Present in the following documents:

• Main text

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Disease models for the development of therapies for lysosomal storage diseases.

Annals Of The New York Academy Of Sciences

Xu, Miao M; Motabar, Omid O; Ferrer, Marc M; Marugan, Juan J JJ; Zheng, Wei W; Ottinger, Elizabeth A EA

Publication Date: 2016-05

Variant appearance in text: GAA: 1316T>A

PubMed Link: 27144735

Variant Present in the following documents:

• Main text

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Human-induced pluripotent stem cell approaches to model inborn and acquired metabolic heart diseases.

Current Opinion In Cardiology

Chanana, Anita M AM; Rhee, June-Wha JW; Wu, Joseph C JC

Publication Date: 2016-05

Variant appearance in text: GAA: 1316T>A

PubMed Link: 27022891

Variant Present in the following documents:

• Main text

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Induced pluripotent stem cells: at the heart of cardiovascular precision medicine.

Nature Reviews. Cardiology

Chen, Ian Y IY; Matsa, Elena E; Wu, Joseph C JC

Publication Date: 2016-06

Variant appearance in text: GAA: 1316T>A

PubMed Link: 27009425

Variant Present in the following documents:

• Main text

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Disease modeling and lentiviral gene transfer in patient-specific induced pluripotent stem cells from late-onset Pompe disease patient.

Molecular Therapy. Methods & Clinical Development

Sato, Yohei Y; Kobayashi, Hiroshi H; Higuchi, Takashi T; Shimada, Yohta Y; Era, Takumi T; Kimura, Shigemi S; Eto, Yoshikatsu Y; Ida, Hiroyuki H; Ohashi, Toya T

Publication Date: 2015

Variant appearance in text: GAA: 1316T>A

PubMed Link: 26199952

Variant Present in the following documents:

• Main text

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Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.

Bmc Medical Genetics

Liu, Xiao X; Wang, Zhaoxia Z; Jin, Weina W; Lv, He H; Zhang, Wei W; Que, Chengli C; Huang, Yu Y; Yuan, Yun Y

Publication Date: 2014-12-20

Variant appearance in text: GAA: 1316T>A

PubMed Link: 25526786

Variant Present in the following documents:

• 12881_2014_Article_141.pdf

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Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotype.

Jimd Reports

Lee, Dong-Hwan DH; Qiu, Wen-Juan WJ; Lee, Jeongho J; Chien, Yin-Hsiu YH; Hwu, Wuh-Liang WL

Publication Date: 2014

Variant appearance in text: GAA: 1316T>A; Met439Lys

PubMed Link: 25213570

Variant Present in the following documents:

• Main text

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