Nina Kresoje

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

Gianina Ravenscroft, Satoko Miyatake, Vilma‐Lotta Lehtokari et al. · The American Journal of Human Genetics · 2013 · 220 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +4

Microbial 16S rRNA Ion Tag and community metagenome sequencing using the Ion Torrent (PGM) Platform

Andrew S. Whiteley, Ian Waite, Nina Kresoje et al. · Journal of Microbiological Methods · 2012 · 202 citations

Biology, Microbial Diversity, Microbial Systematics +9

Mutations in CYC1, Encoding Cytochrome c1 Subunit of Respiratory Chain Complex III, Cause Insulin-Responsive Hyperglycemia

Pauline Gaignard, Minal Menezes, Manuel Schiff et al. · The American Journal of Human Genetics · 2013 · 69 citations · Full text

Metabolic Syndrome, Mitochondrial Function, Biochemistry +8

Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience

Sarah J. Beecroft, Kyle S. Yau, Richard J. N. Allcock et al. · Annals of Clinical and Translational Neurology · 2020 · 46 citations · Full text

Whole exome sequencing in foetal akinesia expands the genotype–phenotype spectrum of GBE1 glycogen storage disease mutations

Gianina Ravenscroft, Elizabeth M. Thompson, Emily J. Todd et al. · Neuromuscular Disorders · 2012 · 45 citations

Foetal Akinesia, Engineering, Mendelian Disorder +11