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Carol Dobson-Stone

Carol Dobson-Stone

D-Index & Metrics

Genetics

D-Index
41
Citations
7033
World Ranking
4329
National Ranking
144

Overview

Carol Dobson-Stone is affiliated with the University of Sydney in Australia. Their research primarily spans the fields of Medicine and Biochemistry, Genetics and Molecular Biology, with a focus on neurology and molecular biology subfields, as well as physiology, cellular and molecular neuroscience, and genetics.

Their work centers on several key topics, including:

  • Amyotrophic Lateral Sclerosis Research
  • Alzheimer's disease research and treatments
  • Parkinson's Disease Mechanisms and Treatments
  • Genetic Neurodegenerative Diseases
  • Neurogenetic and Muscular Disorders Research
  • Neurological diseases and metabolism
  • Ubiquitin and proteasome pathways

Dobson-Stone has contributed to a number of peer-reviewed articles published in journals and venues such as bioRxiv (Cold Spring Harbor Laboratory), Alzheimer's & Dementia, Science Advances, Brain, and Biological Psychiatry. Repeated publication in these venues indicates a consistent focus on neurodegenerative and neurological disorders within their research output.

Recent papers authored or co-authored by Dobson-Stone include:

  • "Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing," 2022, Science Advances
  • "CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis," 2020, Brain
  • "Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis," 2021, JAMA Neurology
  • "Clinical and Biological Correlates of White Matter Hyperintensities in Patients With Behavioral-Variant Frontotemporal Dementia and Alzheimer Disease," 2021, Neurology
  • "Prioritization of Drug Targets for Neurodegenerative Diseases by Integrating Genetic and Proteomic Data From Brain and Blood," 2022, Biological Psychiatry

Their collaborative network includes frequent co-authors such as John B. Kwok, Glenda M. Halliday, Olivier Piguet, Lauren Fitzpatrick, and Marianne Hallupp, reflecting multi-disciplinary collaborations within neurogenetics and neurology.

Overall, Dobson-Stone's research activities highlight a significant engagement with genetic and molecular aspects of neurodegenerative diseases, particularly amyotrophic lateral sclerosis and frontotemporal dementia. Their work integrates data across genetics, proteomics, and clinical neurology to understand disease mechanisms and potential therapeutic targets.

Best Publications

  • Interactions between BDNF Val66Met polymorphism and early life stress predict brain and arousal pathways to syndromal depression and anxiety

    J. M. Gatt;Charles Nemeroff;C. Dobson-Stone;C. Dobson-Stone;C. Dobson-Stone;R. H. Paul

  • Frontotemporal dementia and its subtypes: a genome-wide association study

    Raffaele Ferrari;Raffaele Ferrari;Dena G Hernandez;Dena G Hernandez;Michael A Nalls;Jonathan D Rohrer

  • Hailey–Hailey disease is caused by mutations in ATP2C1 encoding a novel Ca2+ pump

    Ralf Sudbrak;Joanna Brown;Carol Dobson-Stone;Simon Carter

  • A conserved sorting-associated protein is mutant in chorea-acanthocytosis

    Luca Rampoldi;Carol Dobson-Stone;Justin P. Rubio;Adrian Danek

  • Neuroinflammation in frontotemporal dementia.

    Fiona Bright;Eryn L. Werry;Carol Dobson-Stone;Carol Dobson-Stone;Olivier Piguet;Olivier Piguet

  • McLeod neuroacanthocytosis: genotype and phenotype.

    Adrian Danek;Justin P. Rubio;Luca Rampoldi;Mengfatt Ho

  • Analysis of the human VPS13 gene family.

    Antonio Velayos-Baeza;Andrea Vettori;Richard R. Copley;Carol Dobson-Stone

  • Methylation of the oxytocin receptor gene and oxytocin blood levels in the development of psychopathy

    Mark R. Dadds;Caroline Moul;Avril Cauchi;Carol Dobson-Stone

  • Severity of disease and risk of malignant change in hereditary multiple exostoses: A GENOTYPE-PHENOTYPE STUDY

    D. E. Porter;L. Lonie;M. Fraser;C. Dobson-Stone

  • Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease.

    Agnes A. Luty;John B.J. Kwok;John B.J. Kwok;John B.J. Kwok;Carol Dobson-Stone;Carol Dobson-Stone;Carol Dobson-Stone;Clement T. Loy;Clement T. Loy;Clement T. Loy

  • CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

    Kelly L. Williams;Kelly L. Williams;Simon Topp;Shu Yang;Bradley Smith

  • Chorein detection for the diagnosis of chorea-acanthocytosis

    Carol Dobson-Stone;Antonio Velayos-Baeza;Lea A Filippone;Sarah K Westbury

  • The contribution of apolipoprotein E alleles on cognitive performance and dynamic neural activity over six decades.

    D.M. Alexander;L.M. Williams;J.M. Gatt;C. Dobson-Stone;C. Dobson-Stone;C. Dobson-Stone

  • Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.

    C Dobson-Stone;A Danek;L Rampoldi;RJ Hardie

  • The brain-derived neurotrophic factor Val66Met polymorphism predicts response to exposure therapy in posttraumatic stress disorder.

    Kim L. Felmingham;Kim L. Felmingham;Carol Dobson-Stone;Carol Dobson-Stone;Peter R. Schofield;Peter R. Schofield;Gregory J. Quirk

  • C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts.

    Carol Dobson-Stone;Marianne Hallupp;Lauren Bartley;Claire E. Shepherd

  • Disturbances in selective information processing associated with the BDNF Val66Met polymorphism: Evidence from cognition, the P300 and fronto-hippocampal systems

    Peter R. Schofield;Leanne M. Williams;Robert H. Paul;Justine M. Gatt

  • TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions

    Michael D. Gallagher;Eunran Suh;Murray Grossman;Lauren Elman

  • Neurologic phenotypes associated with acanthocytosis.

    R. H. Walker;H. H. Jung;C. Dobson-Stone;L. Rampoldi

  • COMT Val108/158Met polymorphism effects on emotional brain function and negativity bias

    Leanne M. Williams;Justine M. Gatt;Stuart M. Grieve;Carol Dobson-Stone

Frequent Co-Authors

John B.J. Kwok
John B.J. Kwok University of Sydney
Peter R. Schofield
Peter R. Schofield Neuroscience Research Australia
Glenda M. Halliday
Glenda M. Halliday University of Sydney
John R. Hodges
John R. Hodges University of Sydney
Olivier Piguet
Olivier Piguet University of Sydney
Anthony P. Monaco
Anthony P. Monaco Tufts University
Leanne M. Williams
Leanne M. Williams Stanford University
Evian Gordon
Evian Gordon University of Sydney
Richard A. Bryant
Richard A. Bryant University of New South Wales
Matthew C. Kiernan
Matthew C. Kiernan Royal Prince Alfred Hospital

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