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: 379_380del; Cys127fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: GAA: 379_380del

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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Is the brain involved in patients with late-onset Pompe disease?

Journal Of Inherited Metabolic Disease

van den Dorpel, Jan J A JJA; van der Vlugt, Willemijn M C WMC; Dremmen, Marjolein H G MHG; Muetzel, Ryan R; van den Berg, Esther E; Hest, Roos R; de Kriek, Joni J; Brusse, Esther E; van Doorn, Pieter A PA; van der Ploeg, Ans T AT; van den Hout, Johanna M P JMP; van der Beek, Nadine A M E NAME

Publication Date: 2022-05

Variant appearance in text: GAA: 379_380delTG

PubMed Link: 34927739

Variant Present in the following documents:

• Main text
• JIMD-45-493.pdf

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Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience.

European Journal Of Human Genetics : Ejhg

Niño, Monica Y MY; Wijgerde, Mark M; de Faria, Douglas Oliveira Soares DOS; Hoogeveen-Westerveld, Marianne M; Bergsma, Atze J AJ; Broeders, Mike M; van der Beek, Nadine A M E NAME; van den Hout, Hannerieke J M HJM; van der Ploeg, Ans T AT; Verheijen, Frans W FW; Pijnappel, W W M Pim WWMP

Publication Date: 2021-03

Variant appearance in text: GAA: 379_380del; Cys127Leufs*18

PubMed Link: 33162552

Variant Present in the following documents:

• Main text
• 41431_2020_Article_752.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: 378_379del

PubMed Link: 31342611

Variant Present in the following documents:

• Main text
• HUMU-40-2146.pdf

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Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease.

Journal Of Inherited Metabolic Disease

van Gelder, Carin M CM; Hoogeveen-Westerveld, Marianne M; Kroos, Marian A MA; Plug, Iris I; van der Ploeg, Ans T AT; Reuser, Arnold J J AJ

Publication Date: 2015-03

Variant appearance in text: GAA: 378_379del

PubMed Link: 24715333

Variant Present in the following documents:

• Main text

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Phenotypical variation within 22 families with Pompe disease.

Orphanet Journal Of Rare Diseases

Wens, Stephan C A SC; van Gelder, Carin M CM; Kruijshaar, Michelle E ME; de Vries, Juna M JM; van der Beek, Nadine A M E NA; Reuser, Arnold J J AJ; van Doorn, Pieter A PA; van der Ploeg, Ans T AT; Brusse, Esther E

Publication Date: 2013-11-19

Variant appearance in text: GAA: 378_379del; Cys127LeufsX18

PubMed Link: 24245577

Variant Present in the following documents:

• Main text
• 1750-1172-8-182.pdf

View BVdb publication page

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