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: 1941C>G; Cys647Trp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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: GAA: 1941C>G

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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Broad variation in phenotypes for common GAA genotypes in Pompe disease.

Human Mutation

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

Publication Date: 2021-11

Variant appearance in text: GAA: C647W

PubMed Link: 34405923

Variant Present in the following documents:

• HUMU-42-1461-s001.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: 1941C>G; Cys647Trp; rs776948121

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: C647W

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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Pompe disease: pathogenesis, molecular genetics and diagnosis.

Aging

Taverna, Simona S; Cammarata, Giuseppe G; Colomba, Paolo P; Sciarrino, Serafina S; Zizzo, Carmela C; Francofonte, Daniele D; Zora, Marco M; Scalia, Simone S; Brando, Chiara C; Curto, Alessia Lo AL; Marsana, Emanuela Maria EM; Olivieri, Roberta R; Vitale, Silvia S; Duro, Giovanni G

Publication Date: 2020-08-03

Variant appearance in text: GAA: C647W

PubMed Link: 32745073

Variant Present in the following documents:

• aging-12-103794.pdf

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The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.

Orphanet Journal Of Rare Diseases

Bevilacqua, Jorge A JA; Guecaimburu Ehuletche, Maria Del Rosario MDR; Perna, Abayuba A; Dubrovsky, Alberto A; Franca, Marcondes C MC; Vargas, Steven S; Hegde, Madhuri M; Claeys, Kristl G KG; Straub, Volker V; Daba, Nadia N; Faria, Roberta R; Periquet, Magali M; Sparks, Susan S; Thibault, Nathan N; Araujo, Roberto R

Publication Date: 2020-01-13

Variant appearance in text: GAA: 1941C>G; Cys647Trp

PubMed Link: 31931849

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1291.pdf

View BVdb publication page

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Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.

Bmc Medical Genetics

Ngiwsara, Lukana L; Wattanasirichaigoon, Duangrurdee D; Tim-Aroon, Thipwimol T; Rojnueangnit, Kitiwan K; Noojaroen, Saisuda S; Khongkraparn, Arthaporn A; Sawangareetrakul, Phannee P; Ketudat-Cairns, James R JR; Charoenwattanasatien, Ratana R; Champattanachai, Voraratt V; Kuptanon, Chulaluck C; Pangkanon, Suthipong S; Svasti, Jisnuson J

Publication Date: 2019-09-11

Variant appearance in text: GAA: 1941C>G; Cys647Trp

PubMed Link: 31510962

Variant Present in the following documents:

• Main text
• 12881_2019_Article_878.pdf

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: 1941C>G

PubMed Link: 31342611

Variant Present in the following documents:

• Main text
• HUMU-40-2146.pdf
• HUMU-40-2146-s001.pdf

View BVdb publication page

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Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders.

Genetics And Molecular Biology

Málaga, Diana Rojas DR; Brusius-Facchin, Ana Carolina AC; Siebert, Marina M; Pasqualim, Gabriela G; Saraiva-Pereira, Maria Luiza ML; Souza, Carolina F M de CFM; Schwartz, Ida V D IVD; Matte, Ursula U; Giugliani, Roberto R

Publication Date: 2019

Variant appearance in text: GAA: 1941C>G; Cys647Trp

PubMed Link: 30985853

Variant Present in the following documents:

• Main text
• 1415-4757-GMB-1678-4685-GMB-2018-0092.pdf

View BVdb publication page

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A genetic modifier of symptom onset in Pompe disease.

Ebiomedicine

Bergsma, Atze J AJ; In 't Groen, Stijn L M SLM; van den Dorpel, Jan J A JJA; van den Hout, Hannerieke J M P HJMP; van der Beek, Nadine A M E NAME; Schoser, Benedikt B; Toscano, Antonio A; Musumeci, Olimpia O; Bembi, Bruno B; Dardis, Andrea A; Morrone, Amelia A; Tummolo, Albina A; Pasquini, Elisabetta E; van der Ploeg, Ans T AT; Pijnappel, W W M Pim WWMP

Publication Date: 2019-05

Variant appearance in text: GAA: C647W

PubMed Link: 30922962

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.

Nature Communications

Roig-Zamboni, Véronique V; Cobucci-Ponzano, Beatrice B; Iacono, Roberta R; Ferrara, Maria Carmina MC; Germany, Stanley S; Bourne, Yves Y; Parenti, Giancarlo G; Moracci, Marco M; Sulzenbacher, Gerlind G

Publication Date: 2017-10-24

Variant appearance in text: GAA: C647W

PubMed Link: 29061980

Variant Present in the following documents:

• 41467_2017_1263_MOESM1_ESM.pdf

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Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease.

Molecular Genetics And Metabolism Reports

Bali, Deeksha S DS; Goldstein, Jennifer L JL; Rehder, Catherine C; Kazi, Zoheb B ZB; Berrier, Kathryn L KL; Dai, Jian J; Kishnani, Priya S PS

Publication Date: 2015-12-01

Variant appearance in text: GAA: C647W

PubMed Link: 26693141

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: GAA: C647W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Proteasome Inhibitor Bortezomib Enhances the Activity of Multiple Mutant Forms of Lysosomal α-Glucosidase in Pompe Disease.

Jimd Reports

Shimada, Yohta Y; Nishimura, Erica E; Hoshina, Hiroo H; Kobayashi, Hiroshi H; Higuchi, Takashi T; Eto, Yoshikatsu Y; Ida, Hiroyuki H; Ohashi, Toya T

Publication Date: 2015

Variant appearance in text: GAA: C647W

PubMed Link: 25256446

Variant Present in the following documents:

• Main text

View BVdb publication page

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