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R. Pamphlett · SciRah

Researcher profile · Semantic Scholar

R. Pamphlett

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R. Pamphlett — researcher profile on SciRah

h-index: 43
Works: 203
Citations: 7,756

Most-cited papers

Frequency of the C9ORF72 hexanucleotide repeat expansion in ALS and FTD in diverse populations: a cross-sectional study
E. Majounie, A. Renton, K. Mok, E. Dopper +57 more
2012Lancet Neurology1,139 citations Open access
Semantic Scholar
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis
W. van Rheenen, A. Shatunov, Annelot M. Dekker, R. Mclaughlin +173 more
2016Nature Genetics558 citations Open access
Semantic Scholar
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
W. van Rheenen, R. V. D. van der Spek, M. Bakker, L. H. van den Berg +188 more
2021Nature Genetics446 citations Open access
Semantic Scholar
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
A. Nicolas, K. Kenna, A. Renton, N. Ticozzi +200 more
2018Neuron409 citations Open access
Semantic Scholar
Microglia and monocytes in inflammatory CNS disease: integrating phenotype and function
A. Spiteri, Clare Wishart, R. Pamphlett, G. Locatelli +1 more
2021Acta Neuropathologica186 citations Open access
Semantic Scholar
Shared polygenic risk and causal inferences in amyotrophic lateral sclerosis
S. Bandres-Ciga, A. Noyce, G. Hemani, A. Nicolas +156 more
2019Annals of Neurology140 citations Open access
Semantic Scholar
STUDY OF 962 PATIENTS INDICATES PROGRESSIVE MUSCULAR ATROPHY IS A FORM OF ALS
R. Pamphlett
2010Neurology118 citations Open access
Semantic Scholar
Concomitant occurrence of FXTAS and clinically defined sporadic inclusion body myositis: report of two cases
M. Lechpammer, Verónica Martínez-Cerdeño, Michael R. Hunsaker, M. Hah +8 more
2017Croatian Medical Journal108 citations Open access
Semantic Scholar
Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis
B. Benyamin, Ji He, Qiongyi Zhao, J. Gratten +60 more
2017Nature Communications97 citations Open access
Semantic Scholar
Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis
Emily P. McCann, L. Henden, Jennifer A. Fifita, Katharine Y. Zhang +9 more
2020Journal of Medical Genetics91 citations
Semantic Scholar
Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS
P. Hop, R. Zwamborn, E. Hannon, Gemma Shireby +79 more
2022Science Translational Medicine90 citations Open access
Semantic Scholar
Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders
Marta F. Nabais, S. Laws, Tian Lin, C. Vallerga +66 more
2021Genome Biology79 citations Open access
Semantic Scholar
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis
Janel O. Johnson, Ruth Chia, Danny E. Miller, Rachel Li +286 more
2021JAMA Neurology70 citations Open access
Semantic Scholar
Uptake of environmental toxicants by the locus ceruleus: a potential trigger for neurodegenerative, demyelinating and psychiatric disorders.
R. Pamphlett
2014Medical Hypotheses70 citations Open access
Semantic Scholar
Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS
K. Steinberg, Bing Yu, D. Koboldt, E. Mardis +1 more
2015Scientific Reports60 citations Open access
Semantic Scholar
Genome-wide Meta-analysis Finds the ACSL5-ZDHHC6 Locus Is Associated with ALS and Links Weight Loss to the Disease Genetics
A. Iacoangeli, Tian Lin, A. Al Khleifat, A. Jones +27 more
2020Cell Reports59 citations Open access
Semantic Scholar
Age-related accumulation of toxic metals in the human locus ceruleus
R. Pamphlett, D. Bishop, Stephen Kum Jew, P. Doble
2018PLoS ONE48 citations Open access
Semantic Scholar
Inorganic mercury in human astrocytes, oligodendrocytes, corticomotoneurons and the locus ceruleus: implications for multiple sclerosis, neurodegenerative disorders and gliomas
R. Pamphlett, Stephen Kum Jew
2018Biometals48 citations Open access
Semantic Scholar
The distribution of toxic metals in the human retina and optic nerve head: Implications for age-related macular degeneration
R. Pamphlett, S. Cherepanoff, Lay Khoon Too, Stephen Kum Jew +2 more
2020PLoS ONE47 citations Open access
Semantic Scholar
Uptake of inorganic mercury by human locus ceruleus and corticomotor neurons: implications for amyotrophic lateral sclerosis
R. Pamphlett, Stephen Kum Jew
2013Acta Neuropathologica Communications46 citations Open access
Semantic Scholar
Environmental insults: critical triggers for amyotrophic lateral sclerosis
Bing Yu, R. Pamphlett
2017Translational Neurodegeneration45 citations Open access
Semantic Scholar
Different Populations of Human Locus Ceruleus Neurons Contain Heavy Metals or Hyperphosphorylated Tau: Implications for Amyloid-β and Tau Pathology in Alzheimer's Disease
R. Pamphlett, Stephen Kum Jew
2015Journal of Alzheimer's Disease43 citations Open access
Semantic Scholar
Epigenetic differences between monozygotic twins discordant for amyotrophic lateral sclerosis (ALS) provide clues to disease pathogenesis
P. Young, Stephen Kum Jew, M. Buckland, R. Pamphlett +1 more
2017PLoS ONE41 citations Open access
Semantic Scholar
CACNA1H missense mutations associated with amyotrophic lateral sclerosis alter Cav3.2 T-type calcium channel activity and reticular thalamic neuron firing
Y. Rzhepetskyy, J. Lazniewska, Iulia Blesneac, R. Pamphlett +1 more
2016Channels41 citations Open access
Semantic Scholar
Mercury is present in neurons and oligodendrocytes in regions of the brain affected by Parkinson’s disease and co-localises with Lewy bodies
R. Pamphlett, D. Bishop
2022PLoS ONE40 citations Open access
Semantic Scholar
Exposure to environmental toxins and the risk of sporadic motor neuron disease: an expanded Australian case–control study
R. Pamphlett
2012European Journal of Neurology38 citations
Semantic Scholar
Different Occupations Associated with Amyotrophic Lateral Sclerosis: Is Diesel Exhaust the Link?
R. Pamphlett, Anna Rikard-Bell
2013PLoS ONE36 citations Open access
Semantic Scholar
Mercury in the human thyroid gland: Potential implications for thyroid cancer, autoimmune thyroiditis, and hypothyroidism
R. Pamphlett, P. Doble, D. Bishop
2021PLoS ONE35 citations Open access
Semantic Scholar
Concentrations of toxic metals and essential trace elements vary among individual neurons in the human locus ceruleus
R. Pamphlett, Rachel Mak, Joonsup Lee, M. Buckland +5 more
2020PLoS ONE34 citations Open access
Semantic Scholar
Mercury in the retina and optic nerve following prenatal exposure to mercury vapor
R. Pamphlett, Stephen Kum Jew, S. Cherepanoff
2019PLoS ONE34 citations Open access
Semantic Scholar
Heavy metals in locus ceruleus and motor neurons in motor neuron disease
R. Pamphlett, Stephen Kum Jew
2013Acta Neuropathologica Communications33 citations Open access
Semantic Scholar
Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis
Marta F. Nabais, Tian Lin, B. Benyamin, K. Williams +33 more
2020npj Genomic Medicine31 citations Open access
Semantic Scholar
The toxic metal hypothesis for neurological disorders
R. Pamphlett, D. Bishop
2023Frontiers in Neurology30 citations Open access
Semantic Scholar
Whole genome analyses reveal no pathogenetic single nucleotide or structural differences between monozygotic twins discordant for amyotrophic lateral sclerosis
Karyn Meltz Steinberg, Thomas J. Nicholas, D. Koboldt, Bing Yu +2 more
2015Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration30 citations
Semantic Scholar
Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia
L. Henden, L. Fearnley, N. Grima, Emily P. McCann +18 more
2023Science Advances29 citations Open access
Semantic Scholar
Genetic and Pathological Assessment of hnRNPA1, hnRNPA2/B1, and hnRNPA3 in Familial and Sporadic Amyotrophic Lateral Sclerosis
Jennifer A. Fifita, Katharine Y. Zhang, J. Galper, K. Williams +10 more
2017Neurodegenerative Diseases29 citations
Semantic Scholar
Elemental bioimaging shows mercury and other toxic metals in normal breast tissue and in breast cancers
R. Pamphlett, L. Satgunaseelan, Stephen Kum Jew, P. Doble +1 more
2020PLoS ONE28 citations Open access
Semantic Scholar
Polygenic risk score analysis for amyotrophic lateral sclerosis leveraging cognitive performance, educational attainment and schizophrenia
Restuadi Restuadi, F. Garton, B. Benyamin, Tian Lin +22 more
2021European Journal of Human Genetics25 citations Open access
Semantic Scholar
Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis.
Shu Yang, Jennifer A. Fifita, K. Williams, S. T. Warraich +3 more
2013Neurobiology of Aging25 citations
Semantic Scholar
A Comparison of Mercury Exposure from Seafood Consumption and Dental Amalgam Fillings in People with and without Amyotrophic Lateral Sclerosis (ALS): An International Online Case-Control Study
J. P. Parkin Kullmann, R. Pamphlett
2018International Journal of Environmental Research and Public Health24 citations Open access
Semantic Scholar
Can ALS-Associated C9orf72 Repeat Expansions Be Diagnosed on a Blood DNA Test Alone?
R. Pamphlett, P. Cheong, R. Trent, Bing Yu
2013PLoS ONE23 citations Open access
Semantic Scholar
Mercury Is Taken Up Selectively by Cells Involved in Joint, Bone, and Connective Tissue Disorders
R. Pamphlett, Stephen Kum Jew
2019Frontiers in Medicine21 citations Open access
Semantic Scholar
Unusual clinical and molecular-pathological profile of gerstmann-Sträussler-Scheinker disease associated with a novel PRNP mutation (V176G).
Marion Simpson, V. Johanssen, A. Boyd, G. Klug +6 more
2013JAMA Neurology21 citations Open access
Semantic Scholar
Looking for differences in copy number between blood and brain in sporadic amyotrophic lateral sclerosis
R. Pamphlett, J. Morahan, Natasha Luquin, Bing Yu
2011Muscle and Nerve21 citations
Semantic Scholar
A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Cav3.2 T-type channel activity
Robin N. Stringer, Bohumila Jurkovičová-Tarabová, Sun Huang, O. Haji-Ghassemi +9 more
2020Molecular Brain20 citations Open access
Semantic Scholar
Transmission of C9orf72 hexanucleotide repeat expansions in sporadic amyotrophic lateral sclerosis: an Australian trio study
R. Pamphlett, P. Cheong, R. Trent, Bing Yu
2012NeuroReport20 citations
Semantic Scholar
Potentially toxic elements in the brains of people with multiple sclerosis
R. Pamphlett, M. Buckland, D. Bishop
2023Scientific Reports19 citations Open access
Semantic Scholar
Elemental Analysis of Aging Human Pituitary Glands Implicates Mercury as a Contributor to the Somatopause
R. Pamphlett, Stephen Kum Jew, P. Doble, D. Bishop
2019Frontiers in Endocrinology19 citations Open access
Semantic Scholar
Age-Related Uptake of Heavy Metals in Human Spinal Interneurons
R. Pamphlett, Stephen Kum Jew
2016PLoS ONE19 citations Open access
Semantic Scholar
The prevalence of inorganic mercury in human cells increases during aging but decreases in the very old
R. Pamphlett
2021Scientific Reports18 citations Open access
Semantic Scholar

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