Joseph Orsini

5PUBLICATIONS
20CO-AUTHORS
Developmental genetics (incl. sex determination)Infant and child healthCancer geneticsNeonatology
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Journal

Publications (5)

|Aug 26, 2026
Homozygosity for a Clinically Significant GALC Haplotype Associated with Late-Infantile Krabbe Disease Detected on Newborn Screening: Implications for Clinical Management and Genetic Counseling.

|Apr 27, 2026
Expert Recommendations for Rapid Response to Positive Newborn Screen for Infantile Krabbe Disease.

|Apr 24, 2026
COASY-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I.

|Feb 23, 2024
Newborn Screening for Krabbe Disease: Status Quo and Recommendations for Improvements.

Dietrich Matern, Khaja Basheeruddin, Tracy L Klug

|May 13, 2016
Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State.

Melissa P Wasserstein, Mary Andriola, Georgianne Arnold

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Frequent Collaborators

4 joint publications

Dietrich Matern

3 joint publications

Amy White

1 joint publications

Melissa P Wasserstein

1 joint publications

Patricia Galvin-Parton