Rebecca Gooding
Pathwest Laboratory Medicine(AU)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Hereditary Neurological Disorders, RNA regulation and disease, Cardiomyopathy and Myosin Studies, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → N-myc Downstream-Regulated Gene 1 Is Mutated in Hereditary Motor and Sensory Neuropathy–Lom(2000)349 cited
- → Mutation History of the Roma/Gypsies(2004)165 cited
- → Anxiety and depression in a sample of UK college students: a study of prevalence, comorbidity, and quality of life(2020)147 cited
- → Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome(2003)142 cited
- → Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita(2015)119 cited
- → Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (MYH7) Distal Myopathy(2014)98 cited
- → Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement(2012)86 cited
- → A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes(2005)72 cited
- → Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population(2006)50 cited
- → Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2(2006)49 cited