Publications:

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Genomic evolution towards azole resistance in Candida glabrata clinical isolates unveils the importance of CgHxt4/6/7 in azole accumulation.

Communications Biology

Galocha, Mónica M; Viana, Romeu R; Pais, Pedro P; Silva-Dias, Ana A; Cavalheiro, Mafalda M; Miranda, Isabel M IM; Van Ende, Mieke M; Souza, Caio S CS; Costa, Catarina C; Branco, Joana J; Soares, Cláudio M CM; Van Dijck, Patrick P; Rodrigues, Acácio G AG; Teixeira, Miguel C MC

Publication Date: 2022-10-21

Variant appearance in text: GAA: 1477C>T; Pro493Ser

PubMed Link: 36271293

Variant Present in the following documents:

• 42003_2022_4087_MOESM4_ESM.xlsx, sheet 8
• 42003_2022_4087_MOESM4_ESM.xlsx, sheet 4
• 42003_2022_4087_MOESM4_ESM.xlsx, sheet 7

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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: 1477C>T

PubMed Link: 33560568

Variant Present in the following documents:

• Main text
• HUMU-42-119.pdf

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: 1477C>T

PubMed Link: 33560568

Variant Present in the following documents:

• Main text
• HUMU-42-119.pdf

View BVdb publication page

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The First Year Experience of Newborn Screening for Pompe Disease in California.

International Journal Of Neonatal Screening

Tang, Hao H; Feuchtbaum, Lisa L; Sciortino, Stanley S; Matteson, Jamie J; Mathur, Deepika D; Bishop, Tracey T; Olney, Richard S RS

Publication Date: 2020-03

Variant appearance in text: GAA: 1477C>T

PubMed Link: 33073007

Variant Present in the following documents:

• Main text
• IJNS-06-00009.pdf

View BVdb publication page

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Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Khan, Aleena A AA; Case, Laura E LE; Herbert, Mrudu M; DeArmey, Stephanie S; Jones, Harrison H; Crisp, Kelly K; Zimmerman, Kanecia K; ElMallah, Mai K MK; Young, Sarah P SP; Kishnani, Priya S PS

Publication Date: 2020-05

Variant appearance in text: GAA: 1477C>T

PubMed Link: 31904026

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: 1477C>T; Pro493Ser

PubMed Link: 31342611

Variant Present in the following documents:

• Main text
• HUMU-40-2146-s001.pdf

View BVdb publication page

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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: GAA: 1477C>T; Pro493Ser

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table3.xlsx, sheet 1

View BVdb publication page

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