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D-Index
84
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14911
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Overview

Richard S. Finkel is affiliated with St. Jude Children's Research Hospital in the United States. Their research contributions primarily focus on neurogenetic and muscular disorders, with particular emphasis on spinal muscular atrophy (SMA) and related genetic conditions.

Their scholarly work spans the fields of medicine and biochemistry, genetics, and molecular biology. Subfields prominently represented in their publications include genetics, molecular biology, surgery, cellular and molecular neuroscience, and biomedical engineering.

Frequent publication venues for their research include:

  • Neuromuscular Disorders
  • Neurology
  • Journal of Neuromuscular Diseases
  • Brain
  • Annals of Neurology

Key research topics covered in their work are:

  • Neurogenetic and Muscular Disorders Research
  • Congenital Anomalies and Fetal Surgery
  • RNA modifications and cancer
  • Muscle Physiology and Disorders
  • Hereditary Neurological Disorders
  • Cardiac Structural Anomalies and Repair
  • Mechanical Circulatory Support Devices

Frequent co-authors collaborating with Richard S. Finkel include:

  • Eugenio Mercuri
  • John Day
  • Basil T. Darras
  • Francesco Muntoni
  • Darryl C. De Vivo

Notable recent papers authored or co-authored by Richard S. Finkel are:

  • Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial (2021), published in The Lancet Neurology
  • Spinal muscular atrophy (2022), published in Nature Reviews Disease Primers
  • Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial (2022), published in Nature Medicine
  • Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial (2022), published in Nature Medicine
  • Spinal muscular atrophy - insights and challenges in the treatment era (2020), published in Nature Reviews Neurology

Richard S. Finkel's research highlights include gene therapy approaches for SMA and efforts to understand disease mechanisms and treatment challenges across genetic neuromuscular disorders.

Best Publications

  • Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management

    Katharine Bushby;Richard Finkel;David J. Birnkrant;Laura E. Case

  • Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

    Richard S. Finkel;Eugenio Mercuri;Basil T. Darras;Anne M. Connolly

  • Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care

    Katharine Bushby;Richard Finkel;David J. Birnkrant;Laura E. Case

  • Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

    Eugenio Mercuri;Basil T. Darras;Claudia A. Chiriboga;John W. Day

  • Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study

    Richard S Finkel;Claudia A Chiriboga;Jiri Vajsar;John W Day

  • Consensus Statement for Standard of Care in Spinal Muscular Atrophy

    Ching H. Wang;Richard S. Finkel;Enrico S. Bertini;Mary Schroth

  • Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.

    Eugenio Mercuri;Richard S Finkel;Francesco Muntoni;Brunhilde Wirth

  • Agalsidase-Beta Therapy for Advanced Fabry Disease: A Randomized Trial

    Maryam Banikazemi;Jan Bultas;Stephen Waldek;William R. Wilcox

  • Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics.

    Richard S. Finkel;Eugenio Mercuri;Oscar H. Meyer;Anita K. Simonds

  • Observational study of spinal muscular atrophy type I and implications for clinical trials

    Richard S. Finkel;Michael P. McDermott;Petra Kaufmann;Basil T. Darras

  • Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study.

    Darryl C. De Vivo;Enrico Bertini;Kathryn J. Swoboda;Wuh-Liang Hwu

  • Ataluren treatment of patients with nonsense mutation dystrophinopathy

    Katharine Bushby;Richard Finkel;Brenda Wong;Richard Barohn

  • An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

    Catherine A. Brownstein;Alan H. Beggs;Nils Homer;Barry Merriman

  • Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

    Craig M McDonald;Craig Campbell;Ricardo Erazo Torricelli;Richard S Finkel;Richard S Finkel

  • Mutational Spectrum of DMD Mutations in Dystrophinopathy Patients: Application of Modern Diagnostic Techniques to a Large Cohort

    Flanigan Km;Dunn Dm;von Niederhausern A;Soltanzadeh P

  • Natural history of infantile-onset spinal muscular atrophy.

    Stephen J. Kolb;Christopher S. Coffey;Jon W. Yankey;Kristin Krosschell

  • CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

    V Fridman;B Bundy;M M Reilly;D Pareyson

  • Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial.

    John W Day;Richard S Finkel;Claudia A Chiriboga;Anne M Connolly

  • The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliability.

    A.M. Glanzman;E. Mazzone;M. Main;M. Pelliccioni

  • Agalsidase-Beta Therapy for Advanced Fabry Disease

    Maryam Banikazemi;Jan Bultas;Stephen Waldek;William R. Wilcox

Frequent Co-Authors

Francesco Muntoni
Francesco Muntoni University College London
Eugenio Mercuri
Eugenio Mercuri Catholic University of the Sacred Heart
Darryl C. De Vivo
Darryl C. De Vivo Columbia University
Craig M. McDonald
Craig M. McDonald University of California, Davis
Jerry R. Mendell
Jerry R. Mendell The Ohio State University
Michael P. McDermott
Michael P. McDermott University of Rochester
Michael E. Shy
Michael E. Shy University of Iowa
Kevin M. Flanigan
Kevin M. Flanigan The Ohio State University
Carsten G. Bönnemann
Carsten G. Bönnemann University of Pennsylvania
Enrico Bertini
Enrico Bertini Bambino Gesù Children's Hospital

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