Kathryn L. Berrier

Sustained immune tolerance induction in enzyme replacement therapy–treated CRIM-negative patients with infantile Pompe disease

Zoheb B. Kazi, Ankit K. Desai, Kathryn L. Berrier et al. · JCI Insight · 2017 · 68 citations · Full text

CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy

Kathryn L. Berrier, Zoheb B. Kazi, Sean N. Prater et al. · Genetics in Medicine · 2015 · 57 citations · Full text

Clinical Immunology, Maternal Immunization, Autoimmune Disease +10

Thyroid dysfunction in patients with Down syndrome: Results from a multi‐institutional registry study

Jenifer Lavigne, Christianne Sharr, Ibrahim Elsharkawi et al. · American Journal of Medical Genetics Part A · 2017 · 42 citations

Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T > G “late-onset” GAA variant

Mugdha Rairikar, Laura E. Case, Lauren A. Bailey et al. · Molecular Genetics and Metabolism · 2017 · 32 citations · Full text

Pompe Disease, Immunodeficiencies, Pathogenesis +6

National down syndrome patient database: Insights from the development of a multi‐center registry study

Jenifer Lavigne, Christianne Sharr, Al Ozonoff et al. · American Journal of Medical Genetics Part A · 2015 · 25 citations · Full text