Publications:

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Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels.

Bmc Medical Genomics

Cannon, S S; Williams, M M; Gunning, A C AC; Wright, C F CF

Publication Date: 2023-02-28

Variant appearance in text: GAA: 1316_1318del

PubMed Link: 36855133

Variant Present in the following documents:

• 12920_2023_1454_MOESM2_ESM.xlsx, sheet 1

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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: 1320_1322del; Met440del

PubMed Link: 35747179

Variant Present in the following documents:

• mmc1.pdf

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Clinical manifestations and acid alpha-glucosidase mutation characterisation of a cohort of patients with late-onset Pompe disease in eastern China.

Annals Of Translational Medicine

Zhao, Hui-Hui HH; Ma, Zhi Z; Ying, Zi-Xuan ZX; Niu, Feng-Nan FN; Luo, Mao-Tao MT; Wang, Zheng Z; Cheng, Xi X; Zhang, Qian-Qian QQ; Niu, Qi Q

Publication Date: 2021-12

Variant appearance in text: GAA: 1320_1322delGAT

PubMed Link: 35071497

Variant Present in the following documents:

• Main text
• atm-09-24-1803-supplementary.pdf
• atm-09-24-1803.pdf

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Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Human Mutation

de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP

Publication Date: 2021-02

Variant appearance in text: GAA: 1320_1322del

PubMed Link: 33560568

Variant Present in the following documents:

• Main text

View BVdb publication page

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Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Human Mutation

de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP

Publication Date: 2021-02

Variant appearance in text: GAA: 1320_1322del

PubMed Link: 33560568

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1320_1322del; Met440del

PubMed Link: 31342611

Variant Present in the following documents:

• HUMU-40-2146-s001.pdf

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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: 1315_1317delATG

PubMed Link: 25526786

Variant Present in the following documents:

• Main text
• 12881_2014_Article_141.pdf

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