Concepedia
Statistics
Publications
15
Citations
713
H-Index
14
Active since
2006
Affiliations
Memorial University of Newfoundland(Current)
Hospital for Sick Children
University of Toronto
Newcastle University
Izaak Walton Killam Health Centre
Lesley Turner is an author at Memorial University of Newfoundland specializing in medicine, molecular genetics, and genetics.
Top concepts
MedicineGeneticsMolecular GeneticsPediatricsNewborn MedicineNewborn ScreeningFibrosisGenomicsBioethicsEducation
Publications per year
2006–2020
The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene
Peter Reilich, Rita Horváth, Sabine Krause et al. · Journal of Neurology · 2011 · 94 citations
Molecular Physiology, Genetic Disorder, Genetics +8
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder
Carol-Anne Martin, Kata Sarlós, Clare V. Logan et al. · The American Journal of Human Genetics · 2018 · 94 citations · Full text
Mendelian Disorder, Genetic Disorder, Genetics +3
Long QT, syndactyly, joint contractures, stroke and novel <i>CACNA1C</i> mutation: Expanding the spectrum of Timothy syndrome
Jane Gillis, Elena Burashnikov, Charles Antzelevitch et al. · American Journal of Medical Genetics Part A · 2011 · 92 citations
Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (<i>PARN</i>)
Santhosh Dhanraj, Sethu Madhava Rao Gunja, Adam P Deveau et al. · Journal of Medical Genetics · 2015 · 88 citations
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability
Anne Raimondo, Ali Chakera, Soren K. Thomsen et al. · Human Molecular Genetics · 2014 · 64 citations · Full text
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