World's Best Scientists 2026 revealed!

D-Index & Metrics

Genetics

D-Index
120
Citations
62774
World Ranking
375
National Ranking
190

Medicine

D-Index
122
Citations
65427
World Ranking
3431
National Ranking
1890

Research.com Recognitions

  • 2005 - Fellow of the American Academy of Arts and Sciences
  • 2004 - William Allan Award, the American Society of Human Genetics
  • 1990 - Member of the National Academy of Sciences

Overview

Louis M. Kunkel is affiliated with Boston Children's Hospital in the United States. Their research primarily spans the fields of biochemistry, genetics, and molecular biology, with notable contributions in medicine. The subfields of study related to their work include molecular biology, physiology, cell biology, urology, and surgery.

The main topics covered in their research focus on muscle physiology and disorders, adipose tissue and metabolism, mitochondrial function and pathology, RNA research and splicing, zebrafish biomedical research applications, genetic neurodegenerative diseases, and cardiomyopathy and myosin studies.

Kunkel has authored multiple papers in well-known scientific venues. Some recent publications include:

  • Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy, 2020, Science Translational Medicine
  • POLRMT mutations impair mitochondrial transcription causing neurological disease, 2021, Nature Communications
  • Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy, 2022, Annals of Clinical and Translational Neurology
  • PDE10A Inhibition Reduces the Manifestation of Pathology in DMD Zebrafish and Represses the Genetic Modifier PITPNA, 2020, Molecular Therapy
  • Skeletal muscle-specific overexpression of miR-486 limits mammary tumor-induced skeletal muscle functional limitations, 2022, Molecular Therapy - Nucleic Acids

The most frequent co-authors collaborating with Kunkel include:

  • Elicia Estrella
  • Peter B. Kang
  • Jeffrey J. Widrick
  • James R. Conner
  • Christine C. Bruels

Their published work appears repeatedly in several scientific outlets such as:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Neuromuscular Disorders
  • Molecular Therapy - Nucleic Acids
  • Muscle & Nerve
  • UNC Libraries

Louis M. Kunkel has received multiple distinctions, reflecting their career achievements, including:

  • Member of the National Academy of Sciences (1990)
  • William Allan Award from the American Society of Human Genetics (2004)
  • Fellow of the American Academy of Arts and Sciences (2005)

Best Publications

  • Dystrophin: The protein product of the duchenne muscular dystrophy locus

    Eric P. Hoffman;Robert H. Brown;Louis M. Kunkel;Louis M. Kunkel

  • Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals.

    M. Koenig;E.P. Hoffman;C.J. Bertelson;A.P. Monaco

  • Dystrophin expression in the mdx mouse restored by stem cell transplantation

    Emanuela Gussoni;Yuko Soneoka;Corinne D. Strickland;Elizabeth A. Buzney

  • The Complete Sequence of Dystrophin Predicts a Rod-Shaped Cytoskeletal Protein

    M. Koenig;M. Koenig;A.P. Monaco;A.P. Monaco;L.M. Kunkel;L.M. Kunkel;L.M. Kunkel

  • Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

    L M Kunkel;K D Smith;S H Boyer;D S Borgaonkar

  • An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.

    Anthony P. Monaco;Corlee J. Bertelson;Corlee J. Bertelson;Sabina Liechti-Gallati;Hans Moser

  • Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene

    Anthony P. Monaco;Anthony P. Monaco;Rachael L. Neve;Rachael L. Neve;Chris Colletti-Feener;Corlee J. Bertelson

  • THE MOLECULAR BASIS FOR DUCHENNE VERSUS BECKER MUSCULAR DYSTROPHY: CORRELATION OF SEVERITY WITH TYPE OF DELETION

    M. Koenig;A. H. Beggs;M. Moyer;S. Scherpf

  • Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy

    Hoffman Ep;Fischbeck Kh;Brown Rh;Johnson M

  • Conversion of mdx myofibres from dystrophin-negative to -positive by injection of normal myoblasts

    T A Partridge;J E Morgan;G R Coulton;E P Hoffman

  • Cloning the gene for an inherited human disorder—chronic granulomatous disease—on the basis of its chromosomal location

    B. Royerpokora;L. M. Kunkel;A. P. Monaco;S. C. Goff

  • Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

    Alan H. Beggs;Michel Koenig;Frederick M. Boyce;Louis M. Kunkel

  • The structural and functional diversity of dystrophin

    Andrew H. Ahn;Louis M. Kunkel

  • Cloning the gene for the inherited disorder chronic granulomatous disease on the basis of its chromosomal location.

    B Royer-Pokora;L M Kunkel;A P Monaco;S C Goff

  • Duchenne muscular dystrophy: Deficiency of dystrophin at the muscle cell surface

    Eduardo Bonilla;Craig E. Samitt;Armand F. Miranda;Armand F. Miranda;Arthur P. Hays;Arthur P. Hays

  • Stem and progenitor cells in skeletal muscle development, maintenance, and therapy.

    Bruno Péault;Michael Rudnicki;Yvan Torrente;Giulio Cossu

  • Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy

    Satoru Noguchi;Elizabeth M. McNally;Kamel Ben Othmane;Yasuko Hagiwara

  • The Co-Morbidity Burden of Children and Young Adults with Autism Spectrum Disorders

    Isaac S. Kohane;Isaac S. Kohane;Isaac S. Kohane;Andrew McMurry;Andrew McMurry;Griffin Weber;Griffin Weber;Douglas MacFadden

  • Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion

    Louis M. Kunkel;Anthony P. Monaco;William Middlesworth;Hans D. Ochs

  • Distinctive patterns of microRNA expression in primary muscular disorders

    Iris Eisenberg;Alal Eran;Ichizo Nishino;Maurizio Moggio

Frequent Co-Authors

Alan H. Beggs
Alan H. Beggs Harvard Medical School
Eric P. Hoffman
Eric P. Hoffman Binghamton University
Anthony P. Monaco
Anthony P. Monaco Tufts University
Isaac S. Kohane
Isaac S. Kohane Harvard University
Samuel A. Latt
Samuel A. Latt Boston Children's Hospital
Elizabeth M. McNally
Elizabeth M. McNally Northwestern University
Mayana Zatz
Mayana Zatz Universidade de São Paulo
Simon C. Watkins
Simon C. Watkins University of Pittsburgh
Leonard I. Zon
Leonard I. Zon Harvard University
Corrado Angelini
Corrado Angelini University of Padua

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