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American Journal of Hematology|June 17, 2026
Cumulative Antigen Suppression Reduces Clonal Plasma Cell Evolution in Gaucher DiseaseNoor Ul Ain, Noffar Bar, Lilu Guo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2021
Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance inductionCindy Li, Ankit K Desai, Punita Gupta, et al.
Molecular Genetics and Metabolism|April 3, 2022
The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?Neal J Weinreb, Ozlem Goker-Alpan, Priya S Kishnani, et al.
JCI Insight|August 18, 2017
Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe diseaseZoheb B Kazi, Ankit K Desai, Kathryn L Berrier, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|November 8, 2024
ReNeu: A Pivotal, Phase IIb Trial of Mirdametinib in Adults and Children With Symptomatic Neurofibromatosis Type 1-Associated Plexiform NeurofibromaChristopher L Moertel, Angela C Hirbe, Hans H Shuhaiber, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2018
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlationMagdalena Koczkowska, Tom Callens, Alicia Gomes, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 3, 2018
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlationMagdalena Koczkowska, Tom Callens, Alicia Gomes, et al.
Human Mutation|October 10, 2019
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1Magdalena Koczkowska, Tom Callens, Yunjia Chen, et al.
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