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Human Mutation|February 9, 2021
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screeningDouglas O S de Faria, Stijn L M In 't Groen, Marianne Hoogeveen-Westerveld, et al.
Human Mutation|June 30, 2019
Extension of the Pompe mutation database by linking disease-associated variants to clinical severityMonica Y Niño, Stijn L M In 't Groen, Atze J Bergsma, et al.
Human Mutation|August 18, 2021
Broad variation in phenotypes for common GAA genotypes in Pompe diseaseMonica Y Niño, Stijn L M In't Groen, Douglas O S de Faria, et al.
Molecular Therapy. Nucleic Acids|June 19, 2017
GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle CellsErik van der Wal, Atze J Bergsma, Tom J M van Gestel, et al.
European Journal of Human Genetics : EJHG|November 9, 2020
Enzymatic diagnosis of Pompe disease: lessons from 28 years of experienceMonica Y Niño, Mark Wijgerde, Douglas Oliveira Soares de Faria, et al.
Ebiomedicine|March 30, 2019
A genetic modifier of symptom onset in Pompe diseaseAtze J Bergsma, Stijn L M In 't Groen, Jan J A van den Dorpel, et al.
Nature|March 19, 2013
A central role for TFIID in the pluripotent transcription circuitryW W M Pim Pijnappel, Daniel Esch, Marijke P A Baltissen, et al.
Molecular Therapy. Methods & Clinical Development|February 20, 2020
Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA DiagnosisStijn L M In 't Groen, Douglas O S de Faria, Alessandro Iuliano, et al.
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