Sandra T Cooper

23PUBLICATIONS
128CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Infant and child healthGene mappingMedical biochemistry - amino acids and metabolitesBioinformatic methods development
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Publications (23)

|Sep 25, 2026
SCN5A U12-Type Minor Intron Variant Causes Cryptic Splicing and Cardiac Arrhythmia Disease.

|Sep 17, 2026
Expanding the genotypic and phenotypic spectrum of PGAP1 deficiency: clinical and functional insights from 15 patients.

|Jan 24, 2025
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.

Sandra Coppens, Nicolas Deconinck, Patricia Sullivan

|Jun 05, 2024
Genome Sequencing for Diagnosing Rare Diseases.

Monica H Wojcik, Gabrielle Lemire, Eva Berger

|May 30, 2024
Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy.

Lisa G Riley, Subrata Sabui, Hamid M Said

|May 27, 2024
Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint.

Katharine Y Zhang, Himanshu Joshi, Rhett G Marchant

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Frequent Collaborators

7 joint publications

Adam M Bournazos

5 joint publications

Samantha J Bryen

3 joint publications

Michaela Yuen

3 joint publications

Rhett G Marchant