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Molecular Biology

D-Index
50
Citations
16923
World Ranking
2531
National Ranking
59

Overview

Ian P. Blair is affiliated with Macquarie University in Australia. Their research spans primarily the fields of Medicine and Biochemistry, Genetics and Molecular Biology. Within these broader areas, their work is particularly focused on subfields including Neurology, Genetics, Molecular Biology, Cellular and Molecular Neuroscience, and Epidemiology.

The scientist's research themes revolve around Amyotrophic Lateral Sclerosis (ALS) and related neurogenetic and muscular disorders. Key topics of investigation include:

  • Amyotrophic Lateral Sclerosis Research
  • Neurogenetic and Muscular Disorders Research
  • Genetic Neurodegenerative Diseases
  • Neurological Diseases and Metabolism
  • RNA Research and Splicing
  • Parkinson's Disease Mechanisms and Treatments
  • Epigenetics and DNA Methylation

Selected recent publications highlight the breadth and focus of their work. These include:

  • "Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis", 2022, Neuron
  • "Impaired NHEJ repair in amyotrophic lateral sclerosis is associated with TDP-43 mutations", 2020, Molecular Neurodegeneration
  • "Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders", 2021, Genome Biology
  • "Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis", 2020, Journal of Medical Genetics
  • "Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS", 2022, Science Translational Medicine

The venues where Ian P. Blair frequently publishes research include:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Neuron
  • Brain
  • Human Molecular Genetics
  • Neurobiology of Disease

The scientist collaborates with several frequent co-authors, indicating active research partnerships. These collaborators are:

  • Kelly L. Williams
  • Garth A. Nicholson
  • Dominic B. Rowe
  • Natalie Grima
  • Shu Yang

Best Publications

  • TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

    Jemeen Sreedharan;Ian P. Blair;Vineeta B. Tripathi;Xun Hu

  • Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

    Caroline Vance;Boris Rogelj;Tibor Hortobágyi;Kurt J. De Vos

  • DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)

    Ying Zhang Chen;Craig L. Bennett;Huy M. Huynh;Ian P. Blair

  • Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

    Aude Nicolas;Kevin P. Kenna;Alan E. Renton;Alan E. Renton;Nicola Ticozzi

  • Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

    Wouter van Rheenen;Aleksey Shatunov;Annelot M. Dekker;Russell L. McLaughlin

  • C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

    Manal A. Farg;Vinod Sundaramoorthy;Jessica M. Sultana;Shu Yang

  • A yeast functional screen predicts new candidate ALS disease genes

    Julien Couthouis;Michael P. Hart;James Shorter;Mariely DeJesus-Hernandez

  • Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

    B N Smith;N Ticozzi;C Fallini;A S Gkazi

  • Life events, first depression onset and the serotonin transporter gene.

    Kay Wilhelm;Philip B. Mitchell;Heather Niven;Adam Finch

  • Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis

    Julien Couthouis;Michael P. Hart;Michael P. Hart;Renske Erion;Oliver D. King

  • NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

    Kevin P Kenna;Perry T C van Doormaal;Annelot M Dekker;Nicola Ticozzi

  • FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis

    Ian P Blair;Kelly L Williams;Sadaf T Warraich;Sadaf T Warraich;Jennifer C Durnall

  • 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

  • UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis.

    Kelly L. Williams;Sadaf T. Warraich;Shu Yang;Jennifer A. Solski

  • The gene for hereditary sensory neuropathy type I (HSN–I) maps to chromosome 9q22.1–q22.3

    Garth A Nicholson;Jennifer L Dawkins;Ian P Blair;Marina L Kennerson

  • ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19

    Yuji Takahashi;Yoko Fukuda;Jun Yoshimura;Atsushi Toyoda

  • Common and rare variant association analyses in Amyotrophic Lateral Sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

    Wouter van Rheenen;Rick A. A. van der Spek;Mark K. Bakker;Joke J. F. A. van Vugt

  • Genome-Wide Analyses Identify KIF5A as a Novel ALS Gene

    Aude Nicolas;Kevin P. Kenna;Alan E. Renton;Nicola Ticozzi

  • Supporting Online Material for Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

    Caroline Vance;Boris Rogelj;Tibor Hortobágyi;Kurt J. De Vos

Frequent Co-Authors

Garth A. Nicholson
Garth A. Nicholson University of Sydney
Julie D. Atkin
Julie D. Atkin Macquarie University
Peter R. Schofield
Peter R. Schofield Neuroscience Research Australia
Ammar Al-Chalabi
Ammar Al-Chalabi King's College London
John B.J. Kwok
John B.J. Kwok University of Sydney
Christopher Shaw
Christopher Shaw King's College London
Philip B. Mitchell
Philip B. Mitchell University of New South Wales
Matthew C. Kiernan
Matthew C. Kiernan Royal Prince Alfred Hospital
John Landers
John Landers University of Massachusetts Chan Medical School
Guy A. Rouleau
Guy A. Rouleau Montreal Neurological Institute and Hospital

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