Leigh B Waddell
4PUBLICATIONS
44CO-AUTHORS
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Publications (4)
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|Jan 24, 2025
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.Sandra Coppens, Nicolas Deconinck, Patricia Sullivan
|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
|Feb 08, 2024
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.Monica H Wojcik, Gabrielle Lemire, Maha S Zaki
|May 12, 2021
WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase.Leigh B Waddell, Samantha J Bryen, Beryl B Cummings
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Frequent Collaborators
3 joint publications
Samantha J Bryen
3 joint publications
Sandra T Cooper
2 joint publications
Frances J Evesson
2 joint publications
Rhett G Marchant
1 joint publications
Adam Bournazos
1 joint publications
Ben Weisburd
1 joint publications
Michel C Tchan
1 joint publications
Alan Ma
1 joint publications
Diane N Kenwright
1 joint publications
Emily C Oates
