Sandra T Cooper

21PUBLICATIONS
112CO-AUTHORS
Infant and child healthGene mappingMedical biochemistry - amino acids and metabolitesBioinformatic methods developmentNeurology and neuromuscular diseases
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Publications (21)

|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

|Mar 28, 2024
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.

Rhett G Marchant, Samantha J Bryen, Melanie Bahlo

|Mar 13, 2024
Lmod2 is necessary for effective skeletal muscle contraction.

Tania M Larrinaga, Gerrie P Farman, Rachel M Mayfield

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Frequent Collaborators

5 joint publications

Samantha J Bryen

5 joint publications

Adam M Bournazos

3 joint publications

Michaela Yuen

3 joint publications

Rhett G Marchant