Leigh B. Waddell

Mutations in Cardiac T-Box Factor Gene TBX20 are associated with Diverse Cardiac Pathologies, Including Defects of Septation and Valvulogenesis and Cardiomyopathy

Edwin P. Kirk, Margaret Sunde, Mauro W. Costa et al. · Griffith Research Online (Griffith University, Queensland, Australia) · 2007 · 362 citations

Medicine, Genetics, Molecular Genetics +10

Genome Sequencing for Diagnosing Rare Diseases

Monica H. Wojcik, Gabrielle Lemire, Eva Berger et al. · New England Journal of Medicine · 2024 · 184 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by <i>ANO5</i>

S. Penttilä, Johanna Palmio, Tiina Suominen et al. · Neurology · 2012 · 117 citations

Life Sciences, Genetics, Molecular Genetics +15

Dysferlin, Annexin A1, and Mitsugumin 53 Are Upregulated in Muscular Dystrophy and Localize to Longitudinal Tubules of the T-System With Stretch

Leigh B. Waddell, Frances A. Lemckert, Xi Zheng et al. · Journal of Neuropathology & Experimental Neurology · 2011 · 110 citations · Full text

Medicine, Cell Biology, Molecular Biology +15

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam Bournazos, Lisa G. Riley, Shobhana Bommireddipalli et al. · Genetics in Medicine · 2021 · 104 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +17