Concepedia

Leigh B. Waddell

LB

25

Publications

2.7K

Citations

21

H-Index

2009

Active since

Affiliations

Children's Hospital at Westmead(Current)

The University of Sydney

Royal Children's Hospital

Broad Institute

Massachusetts General Hospital

Leigh B. Waddell is an author at Children's Hospital at Westmead specializing in medicine, genetics, and pathology.

Top concepts

Publications per year

2009–2018

25

Publications

25

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen et al. · Science Translational Medicine · 2017 · 767 citations · Full text

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

Keren Carss, Elizabeth Stevens, A. Reghan Foley et al. · The American Journal of Human Genetics · 2013 · 236 citations · Full text

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Michaela Yuen, Sarah A. Sandaradura, James J. Dowling et al. · Journal of Clinical Investigation · 2014 · 200 citations · Full text

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Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy

Roula Ghaoui, Sandra T. Cooper, Monkol Lek et al. · JAMA Neurology · 2015 · 195 citations

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

Nigel F. Clarke, Leigh B. Waddell, Sandra T. Cooper et al. · Human Mutation · 2010 · 172 citations · Full text

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