Publications:

Modeling clonal hematopoiesis in umbilical cord blood cells by CRISPR/Cas9.

Leukemia

Christen, Friederike F; Hablesreiter, Raphael R; Hoyer, Kaja K; Hennch, Cornelius C; Maluck-Böttcher, Antje A; Segler, Angela A; Madadi, Annett A; Frick, Mareike M; Bullinger, Lars L; Briest, Franziska F; Damm, Frederik F

Publication Date: 2022-04

Variant appearance in text: GAA: 2644_2646del

PubMed Link: 34782715

Variant Present in the following documents:

• 41375_2021_1469_MOESM3_ESM.xlsx, sheet 1

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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: Asn882del

PubMed Link: 34405923

Variant Present in the following documents:

• Main text
• HUMU-42-1461.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: Asn882del

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: Asn882del

PubMed Link: 31342611

Variant Present in the following documents:

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

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Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease.

Jimd Reports

Niño, Mónica Yasmín MY; Mateus, Heidi Eliana HE; Fonseca, Dora Janeth DJ; Kroos, Marian A MA; Ospina, Sandra Yaneth SY; Mejía, Juan Fernando JF; Uribe, Jesús Alfredo JA; Reuser, Arnold J J AJ; Laissue, Paul P

Publication Date: 2013

Variant appearance in text: GAA: Asn882del

PubMed Link: 23430493

Variant Present in the following documents:

• Main text

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