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Genetics

D-Index
57
Citations
8720
World Ranking
3436
National Ranking
412

Overview

Mark I. Rees is affiliated with Swansea University in the United Kingdom. Their research focuses primarily on the fields of Medicine and Biochemistry, Genetics and Molecular Biology. Within these domains, their work spans subfields including Genetics, Psychiatry and Mental Health, Neurology, Molecular Biology, and Pediatrics, Perinatology and Child Health.

The main topics covered in their research include:

  • Epilepsy research and treatment
  • Pharmacological Effects and Toxicity Studies
  • Hemoglobinopathies and Related Disorders
  • Genetics and Neurodevelopmental Disorders
  • Cerebral Venous Sinus Thrombosis
  • Genomics and Rare Diseases
  • Peptidase Inhibition and Analysis

Mark I. Rees has contributed to various scientific outlets, frequently publishing in the following venues:

  • The American Journal of Human Genetics
  • Journal of Neurology Neurosurgery & Psychiatry
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Epilepsia
  • International Journal for Population Data Science

Recent papers authored or co-authored by Mark I. Rees include:

  • "Incidence, Prevalence, and Health Care Outcomes in Idiopathic Intracranial Hypertension," 2021, Neurology
  • "Epilepsy, antiepileptic drugs, and the risk of major cardiovascular events," 2021, Epilepsia
  • "Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy," 2020, The American Journal of Human Genetics
  • "Trait impulsivity in Juvenile Myoclonic Epilepsy," 2020, Annals of Clinical and Translational Neurology
  • "Sex-specific disease modifiers in juvenile myoclonic epilepsy," 2022, Scientific Reports

Frequent collaborators include:

  • William Owen Pickrell
  • Arron Lacey
  • Beata Fonferko-Shadrach
  • Robert Powell
  • I. M. S. Sawhney

Best Publications

  • The GDP-GTP Exchange Factor Collybistin: An Essential Determinant of Neuronal Gephyrin Clustering

    Kirsten Harvey;Ian C Duguid;Melissa J. Alldred;Sarah E. Beatty

  • De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

    Candace T. Myers;Jacinta M. McMahon;Amy L. Schneider;Slavé Petrovski;Slavé Petrovski

  • Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.

    Mark I. Rees;Mark I. Rees;Kirsten Harvey;Brian R. Pearce;Seo-Kyung Chung;Seo-Kyung Chung

  • Additional support for schizophrenia linkage on chromosomes 6 and 8: A multicenter study

    Dieter B. Wildenauer;Sibylle G. Schwab;Margot Albus;Joachim Hallmayer

  • Dynamic changes in myelin aberrations and oligodendrocyte generation in chronic amyloidosis in mice and men.

    Gwendolyn Behrendt;Kristin Baer;Annalisa Buffo;Maurice A. Curtis

  • An ovine transgenic Huntington's disease model

    Jessie C. Jacobsen;C. Simon Bawden;Skye R. Rudiger;Clive J. McLaughlan

  • The genetics of hyperekplexia: more than startle!

    Robert J. Harvey;Maya Topf;Kirsten Harvey;Mark I. Rees;Mark I. Rees

  • TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins

    Ravinesh A. Kumar;Daniela T. Pilz;Timothy D. Babatz;Thomas D. Cushion

  • Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.

    Andrew S Allen;Susannah T Bellows;Samuel F Berkovic;Joshua Bridgers

  • Immunohistochemical staining of post-mortem adult human brain sections.

    Henry J Waldvogel;Maurice A Curtis;Maurice A Curtis;Kristin Baer;Mark I Rees

  • Hyperekplexia associated with compound heterozygote mutations in the β-subunit of the human inhibitory glycine receptor (GLRB)

    Mark I. Rees;Trevor M. Lewis;John B. J. Kwok;Geert R. Mortier

  • A Two-Stage Genome Scan for Schizophrenia Susceptibility Genes in 196 Affected Sibling Pairs

    Nigel Melville Williams;M. I. Rees;Peter Alan Holmans;N. Norton

  • Functional variants of antioxidant genes in smokers with COPD and in those with normal lung function

    R P Young;R Hopkins;P N Black;C Eddy

  • Association studies of bipolar disorder at the human serotonin transporter gene (hSERT; 5HTT)

    M. Rees;N. Norton;Ian Richard Jones;F. McCandless

  • Overlapping cortical malformations and mutations in TUBB2B and TUBA1A

    Thomas D. Cushion;William B. Dobyns;Jonathan G. L. Mullins;Neil Stoodley

  • Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor

    Mark I. Rees;Martin Andrew;Sudad Jawad;Michael J. Owen

  • Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia

    Seo-Kyung Chung;Jean-Francois Vanbellinghen;Jonathan G. L. Mullins;Angela Robinson

  • Isoform heterogeneity of the human gephyrin gene (GPHN), binding domains to the glycine receptor, and mutation analysis in hyperekplexia

    Mark I. Rees;Kirsten Harvey;Hamish Ward;Julia H. White

  • Functional variants of antioxidant genes in smokers with COPD and in those with normal lung function: Thorax 2006; published online ahead of print on 7 February 2006 as doi:10.1136/thx.2005.048512

    R. Young;R. Hopkins;P. Black;C. Nel Nee Eddy

  • TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge

    Ravinesh A. Kumar;Daniela T. Pilz;Timothy D. Babatz;Thomas D. Cushion

Frequent Co-Authors

Michael John Owen
Michael John Owen Cardiff University
Robert J. Harvey
Robert J. Harvey University of the Sunshine Coast
Richard L.M. Faull
Richard L.M. Faull University of Auckland
Russell G. Snell
Russell G. Snell University of Auckland
Anthony G Marson
Anthony G Marson University of Liverpool
Ronan A Lyons
Ronan A Lyons Swansea University
Ingrid E. Scheffer
Ingrid E. Scheffer University of Melbourne
Norman Delanty
Norman Delanty Beaumont Hospital
Peter Holmans
Peter Holmans Cardiff University
Samuel F. Berkovic
Samuel F. Berkovic University of Melbourne

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