Shira Rockowitz

6PUBLICATIONS
36CO-AUTHORS
Infant and child healthNeurology and neuromuscular diseasesMedical genetics (excl. cancer genetics)Nanotoxicology, health and safetyOptical fibre communication systems and technologies
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Publications (6)

|Dec 31, 2025
Rare Structural Variants Uncovered by Optical Genome Mapping in Multisystem Inflammatory Syndrome in Children (MIS-C).

Catherine A Brownstein, Caspar I van der Made, Kristin Cabral

|Jul 15, 2025
Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy.

Clara Hildebrandt, Casie A Genetti, Tanya Logvinenko

|Dec 02, 2024
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.

Courtney E French, Nancy C Andrews, Alan H Beggs

|Mar 11, 2024
Zebrafish and cellular models of SELENON-Related Myopathy exhibit novel embryonic and metabolic phenotypes.

Pamela Barraza-Flores, Behzad Moghadaszadeh, Won Lee

|Dec 15, 2021
Dual-vector gene therapy restores cochlear amplification and auditory sensitivity in a mouse model of DFNB16 hearing loss.

Olga Shubina-Oleinik, Carl Nist-Lund, Courtney French

|Jul 14, 2020
Children's rare disease cohorts: an integrative research and clinical genomics initiative.

Shira Rockowitz, Nicholas LeCompte, Mary Carmack

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Frequent Collaborators

3 joint publications

Alan H Beggs

3 joint publications

Piotr Sliz

2 joint publications

Catherine A Brownstein

2 joint publications

Pamela Barraza-Flores