Graeme Nimmo

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Dimitri J. Stavropoulos, Daniele Merico, Rebekah Jobling et al. · npj Genomic Medicine · 2016 · 374 citations · Full text

Systematic deletion analyses of the <i>fla</i> genes in the flagella operon identify several genes essential for proper assembly and function of flagella in the archaeon, <i>Methanococcus maripaludis</i>

Bonnie Chaban, Sandy Y. M. Ng, Masaomi Kanbe et al. · Molecular Microbiology · 2007 · 105 citations

Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3

Brandon Itzkovitz, Sarn Jiralerspong, Graeme Nimmo et al. · Human Mutation · 2011 · 80 citations

A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton

Nancy Braverman, Rui Zhang, Li Chen et al. · Molecular Genetics and Metabolism · 2009 · 64 citations

Knockout Mouse, Developmental Biology, Ophthalmology +5

Bi-allelic mutations of<i>LONP1</i>encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy

Graeme Nimmo, Sundararajan Venkatesh, Ashutosh Pandey et al. · Human Molecular Genetics · 2018 · 36 citations

Bi-allelic Mutations, Progressive Cerebellar Atrophy, Mitochondrial Proteostasis +20