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Publications by Jonathan A. Bernstein
S-Cap Extends Pathogenicity Prediction to Genetic Variants That Affect RNA Splicing
Nature Genetics
Genetics
Inhibiting Plasma Kallikrein for Hereditary Angioedema Prophylaxis
New England Journal of Medicine
Medicine
Nanofiltered C1 Inhibitor Concentrate for Treatment of Hereditary Angioedema
New England Journal of Medicine
Medicine
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance
American Journal of Human Genetics
Genetics
De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
American Journal of Human Genetics
Genetics
Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
American Journal of Human Genetics
Genetics
Association ofMTORMutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism
JAMA Neurology
Neurology
A Questionnaire Survey Study to Determine Association of Dental Hygiene Practices in Hereditary Angioedema Subjects With the Incidence of Post-Procedural Angioedema Attacks
Journal of Allergy and Clinical Immunology
Allergy
Immunology
Chronic Rhinitis and the Risk of Early Asthma Readmission - A Retrospective Cohort Study
Journal of Allergy and Clinical Immunology
Allergy
Immunology
Evidence Is Limited for the Efficacy and Safety of Corticosteroid Irrigation in Chronic Rhinosinusitis (CRS)
Journal of Allergy and Clinical Immunology
Allergy
Immunology
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