Joseph J. Orsini

New York State Department of Health — United States

Medicine · Health Sciences

28h-index2.6kcitations87works1.92yr avg
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Research Topics

Lysosomal Storage Disorders Research(53), Metabolism and Genetic Disorders(23), Trypanosoma species research and implications(16), Carbohydrate Chemistry and Synthesis(12), Parasitic Diseases Research and Treatment(10)

Publications87 total

Newborn screening for metachromatic leukodystrophy: Preparation of reagents and methodology for measurement of sulfatides and arylsulfatase A enzymatic activity in dried blood spots
Molecular Genetics and Metabolism·2025· 1 cited
Beyond Targeted Newborn Screening: A Nontargeted Metabolomics Workflow to Investigate Birthweight–Metabolome Correlations
Analytical Chemistry·2025· 6 citedOpen Access
Consensus Assay Methodology for Analysis of Sulfatides and Arylsulfatase a Enzymatic Activity in Dried Blood Spots for Newborn Screening of Metachromatic Leukodystrophy
SSRN Electronic Journal·2025Open Access
Update on Newborn Screening for Cerebrotendinous Xanthomatosis (CTX)
2025
P560: Implementing homocysteine into first-tier mass spectrometry tests in newborn screening for detection of homocystinurias in New York State
Genetics in Medicine Open·2025Open Access
High precision newborn screening for mucopolysaccharidosis type I by enzymatic activity followed by endogenous, non-reducing end glycosaminoglycan analysis
Molecular Genetics and Metabolism·2024Open Access
Newborn screening for Krabbe disease: Status quo and recommendations for improvements
Molecular Genetics and Metabolism·2024
Newborn Screening for Krabbe Disease: Status Quo and Recommendations for Improvements
International Journal of Neonatal Screening·2024· 10 citedOpen Access
P506: Long-term results and challenges of newborn screening for classic homocystinuria in New York State
Genetics in Medicine Open·2024Open Access
ScreenPlus: A comprehensive, multi-disorder newborn screening program
Molecular Genetics and Metabolism Reports·2023· 10 citedOpen Access
Newborn Screening for Krabbe Disease and Identification of Minority Patients
Pediatric Neurology·2023· 3 cited
VUS: Variant of uncertain significance or very unclear situation?
Molecular Genetics and Metabolism·2023· 19 citedOpen Access
When is the best time to screen and evaluate for treatable genetic disorders?: A lifespan perspective
American Journal of Medical Genetics Part C Seminars in Medical Genetics·2023· 19 citedOpen Access
Harmonization of Newborn Screening Results for Pompe Disease and Mucopolysaccharidosis Type I
International Journal of Neonatal Screening·2023· 9 citedOpen Access
Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies
American Journal of Medical Genetics Part C Seminars in Medical Genetics·2023· 8 citedOpen Access
Newborn screening for metachromatic leukodystrophy (MLD): An overview of ongoing and future studies
Molecular Genetics and Metabolism·2023· 9 cited
Newborn Screening for Krabbe Disease and Identification of Minority Patients
SSRN Electronic Journal·2023Open Access
Screenplus: A Comprehensive, Multi-Disorder Newborn Screening Program
SSRN Electronic Journal·2023· 1 citedOpen Access
Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories
International Journal of Neonatal Screening·2022· 42 citedOpen Access
Making Decisions About Krabbe Disease Newborn Screening
PEDIATRICS·2022· 3 cited
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Frequent Co-authors

Michele Caggana(22), Michael H. Gelb(12), Maria L. Escolar(10), Melissa Wasserstein(10), Monica Martin(10), Dietrich Matern(10), Joanne Kurtzberg(9), David A. Wenger(7), Olaf A. Bodamer(6), Paul A. Levy(5), Joan E. Pellegrino(5), Joan Keutzer(5), Carlos A. Saavedra‐Matiz(5), Chad K. Biski(5), Piero Rinaldo(5), Patricia K. Duffner(4), Richard W. Erbe(4), Jennifer M. Kwon(4), Adolf Mühl(4), Alejandro Iglesias(4)