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Genetics

D-Index
65
Citations
18001
World Ranking
2682
National Ranking
1178

Overview

Neil Howell is affiliated with The University of Texas Medical Branch at Galveston in the United States. Their research spans multiple disciplines within biochemistry, genetics, molecular biology, and medicine, focusing extensively on topics related to mitochondrial function and pathology as well as retinal and cardiovascular disorders.

The scientist's main fields of study include:

  • Biochemistry, Genetics and Molecular Biology
  • Medicine

The primary subfields of their research are:

  • Molecular Biology
  • Cardiology and Cardiovascular Medicine
  • Ophthalmology

Key research topics covered by Neil Howell involve:

  • Mitochondrial Function and Pathology
  • Retinal Development and Disorders
  • Photosynthetic Processes and Mechanisms
  • Glaucoma and retinal disorders
  • Metabolomics and Mass Spectrometry Studies
  • Cardiovascular Function and Risk Factors
  • Cardiomyopathy and Myosin Studies

Neil Howell has published research in several scientific journals with a focus on human genetics, cardiovascular studies, and clinical case reports. Frequent publication venues include:

  • The American Journal of Human Genetics
  • The FASEB Journal
  • HeartRhythm Case Reports

Recent published papers by Neil Howell reflect a range of subjects from genetic risk assessment to metabolic profiling and clinical case studies. These include:

  • "Establishing risk of vision loss in Leber hereditary optic neuropathy" (2021, The American Journal of Human Genetics)
  • "Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?" (2022, The American Journal of Human Genetics)
  • "Metabolic profiling of aortic stenosis and hypertrophic cardiomyopathy identifies mechanistic contrasts in substrate utilization" (2024, The FASEB Journal)
  • "A revealing rash: Contact allergic dermatitis following the insertion of an Implantable loop recorder (ILR) device - A Case Report" (2025, HeartRhythm Case Reports)

The researcher collaborates frequently with several coauthors, including:

  • M. Isabel G. Lopez Sanchez
  • Lisa S. Kearns
  • Sandra E. Staffieri
  • Linda Clarke
  • Myra B. McGuinness

Best Publications

  • Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

    Richard M. Andrews;Iwona Kubacka;Patrick F. Chinnery;Robert N. Lightowlers

  • Reduced-Median-Network Analysis of Complete Mitochondrial DNA Coding-Region Sequences for the Major African, Asian, and European Haplogroups

    Corinna Herrnstadt;Joanna L. Elson;Eoin Fahy;Gwen Preston

  • Mammalian mitochondrial genetics: heredity, heteroplasmy and disease

    Robert N. Lightowlers;Patrick F. Chinnery;Douglass M. Turnbull;Neil Howell

  • The epidemiology of Leber hereditary optic neuropathy in the North East of England.

    P.Y.W. Man;P.G. Griffiths;D.T. Brown;N. Howell

  • Mutations in mitochondrial cytochrome c oxidase genes segregate with late-onset Alzheimer disease

    Davis Re;Miller S;Herrnstadt C;Ghosh Ss

  • Leber Hereditary Optic Neuropathy: Identification of the Same Mitochondrial ND1 Mutation in Six Pedigrees

    N Howell;L A Bindoff;D A McCullough;I Kubacka

  • Amplification of specific DNA sequences correlates with multi-drug resistance in Chinese hamster cells.

    Igor B. Roninson;Herbert T. Abelson;David E. Housman;Neil Howell

  • Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.

    Patrick F. Chinnery;Neil Howell;Robert N. Lightowlers;Douglass M. Turnbull

  • Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background

    Gavin Hudson;Valerio Carelli;Valerio Carelli;Liesbeth Spruijt;Mike Gerards

  • How rapidly does the human mitochondrial genome evolve

    Neil Howell;Iwona Kubacka;David A. Mackey;David A. Mackey

  • Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.

    N Howell;I Kubacka;M Xu;D A McCullough

  • The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?

    Patrick F Chinnery;David R Thorburn;David C Samuels;Sarah L White

  • A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology.

    David Mackey;Neil Howell

  • The Pedigree Rate of Sequence Divergence in the Human Mitochondrial Genome: There Is a Difference Between Phylogenetic and Pedigree Rates

    Neil Howell;Christy Bogolin Smejkal;D.A. Mackey;P.F. Chinnery

  • Comparative Genomics and the Evolution of Human Mitochondrial DNA: Assessing the Effects of Selection

    J. L. Elson;D. M. Turnbull;Neil Howell

  • Origin and Diffusion of mtDNA Haplogroup X

    Maere Reidla;Toomas Kivisild;Ene Metspalu;Katrin Kaldma

  • The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.

    P. F. Chinnery;D. T. Brown;R. M. Andrews;R. Singh-Kler

  • The Matrilineal Ancestry of Ashkenazi Jewry: Portrait of a Recent Founder Event

    Doron M. Behar;Ene Metspalu;Toomas Kivisild;Alessandro Achilli

  • Evolutionary conservation of protein regions in the protonmotive cytochrome b and their possible roles in redox catalysis.

    Neil Howell

  • Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism.

    L A Bindoff;N Howell;J Poulton;D A McCullough

Frequent Co-Authors

Douglass M. Turnbull
Douglass M. Turnbull Newcastle University
Patrick F. Chinnery
Patrick F. Chinnery University of Cambridge
David A. Mackey
David A. Mackey University of Western Australia
Robert N. Lightowlers
Robert N. Lightowlers Newcastle University
Robert W. Taylor
Robert W. Taylor Newcastle University
Laurence A. Bindoff
Laurence A. Bindoff Haukeland University Hospital
Robert McFarland
Robert McFarland Newcastle University
Valerio Carelli
Valerio Carelli University of Bologna
Antonio Torroni
Antonio Torroni University of Pavia

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