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Sandra T Cooper

21PUBLICATIONS

112CO-AUTHORS

MechanobiologyInfant and child healthGene mappingMedical biochemistry - amino acids and metabolitesBioinformatic methods development

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Publications (21)

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|Apr 01, 2025

Borzoi decodes the complex DNA signals governing gene regulation.

Sandra T Cooper

|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

|Apr 25, 2024

Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion.

Parvathy Venugopal, Peer Arts, Lucy C Fox

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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

3 joint publications

Leigh B Waddell

3 joint publications

Daniel G MacArthur

3 joint publications

Frances J Evesson

2 joint publications

Alan H Beggs

2 joint publications

Nigel G Laing

2 joint publications

Volker Straub

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

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