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Medicine

D-Index
98
Citations
33847
World Ranking
8948
National Ranking
4603

Research.com Recognitions

  • 2000 - Fellow of the American Association for the Advancement of Science (AAAS)

Overview

Darryl C. De Vivo is affiliated with Columbia University in the United States, with research focusing predominantly on medicine and biochemistry, genetics, and molecular biology. Their work extensively covers neurogenetic and muscular disorders, congenital anomalies and fetal surgery, as well as RNA modifications and cancer.

Their published body of work includes contributions to key medical and scientific fields, with main research topics highlighting neurogenetic and muscular disorders research, congenital anomalies and fetal surgery, RNA modifications and cancer, diet and metabolism studies, mechanical circulatory support devices, family and disability support research, and metabolism and genetic disorders.

Darryl C. De Vivo has authored numerous papers in prominent venues, including:

  • Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group, 2020, Epilepsia Open
  • Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity, 2021, Journal of Clinical Investigation
  • Treatment of infantile-onset spinal muscular atrophy with nusinersen: final report of a phase 2, open-label, multicentre, dose-escalation study, 2021, The Lancet Child & Adolescent Health
  • Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study, 2023, Muscle & Nerve
  • Clinical Variability in Spinal Muscular Atrophy Type III, 2020, Annals of Neurology

Their frequent co-authors include Richard S. Finkel, Eugenio Mercuri, Jacqueline Montes, John Day, and Basil T. Darras, demonstrating collaboration across multiple studies in neuromuscular and neurogenetic disorders.

The primary publication venues for Darryl C. De Vivo's work reflect a focus on neuromuscular and neurological conditions:

  • Neurology
  • Neuromuscular Disorders
  • Annals of Clinical and Translational Neurology
  • Journal of Neuromuscular Diseases
  • Journal of Clinical Medicine

Their research spans key subfields, including genetics, molecular biology, surgery, physiology, and clinical biochemistry, contributing to an interdisciplinary approach in their scientific investigations.

Recognition for their scientific contributions includes being named a Fellow of the American Association for the Advancement of Science (AAAS) in 2000.

Best Publications

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

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

  • Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome.

    Steven G. Pavlakis;Peter C. Phillips;Salvatore DiMauro;Darryl C. De Vivo;Darryl C. De Vivo

  • 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

  • Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay.

    Darryl C. De Vivo;Rosario R. Trifiletti;Ronald I. Jacobson;Gabriel M. Ronen

  • GLUT1 reductions exacerbate Alzheimer's disease vasculo-neuronal dysfunction and degeneration

    Ethan A Winkler;Ethan A Winkler;Yoichiro Nishida;Yoichiro Nishida;Abhay P Sagare;Sanket V Rege

  • Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

    L C Papadopoulou;C M Sue;M M Davidson;K Tanji

  • Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy.

    Claudia A. Chiriboga;Kathryn J. Swoboda;Basil T. Darras;Susan T. Iannaccone

  • 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

  • GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier

    Glen Seidner;Marcela Garcia Alvarez;Jih-I Yeh;Kevin R. O'Driscoll

  • Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial.

    P. Kaufmann;K. Engelstad;Y. Wei;S. Jhung

  • Glut-1 deficiency syndrome: Clinical, genetic, and therapeutic aspects

    Dong Wang;Juan M. Pascual;Hong Yang;Kristin Engelstad

  • Experience with the ketogenic diet in infants.

    Douglas R. Nordli;Maxine M. Kuroda;Joanne Carroll;Dorcas Y. Koenigsberger

  • The changing natural history of spinal muscular atrophy type 1

    M. Oskoui;G. Levy;C. J. Garland;J. M. Gray

  • An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients.

    Jessica M. O’Hagen;Allan M. Glanzman;Michael P. McDermott;Patricia A. Ryan

  • Familial cerebellar ataxia with muscle coenzyme Q10 deficiency.

    O. Musumeci;A. Naini;A. E. Slonim;N. Skavin

  • Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

    Ender Karaca;Tamar Harel;Davut Pehlivan;Shalini N. Jhangiani

  • Primary and secondary carnitine deficiency syndromes.

    Roser Pons;Darryl C. De Vivo

  • Nusinersen in later-onset spinal muscular atrophy: Long-term results from the phase 1/2 studies

    Basil T. Darras;Claudia A. Chiriboga;Susan T. Iannaccone;Kathryn J. Swoboda

Frequent Co-Authors

Salvatore DiMauro
Salvatore DiMauro Columbia University
Richard S. Finkel
Richard S. Finkel St. Jude Children's Research Hospital
Eugenio Mercuri
Eugenio Mercuri Catholic University of the Sacred Heart
Francesco Muntoni
Francesco Muntoni University College London
Wendy K. Chung
Wendy K. Chung Columbia University
Michael P. McDermott
Michael P. McDermott University of Rochester
Michio Hirano
Michio Hirano Columbia University
Enrico Bertini
Enrico Bertini Bambino Gesù Children's Hospital
Eduardo Bonilla
Eduardo Bonilla Columbia University
Sara Shanske
Sara Shanske Columbia University Medical Center

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