World's Best Scientists 2026 revealed!

D-Index & Metrics

Biology and Biochemistry

D-Index
79
Citations
19612
World Ranking
4380
National Ranking
2135

Medicine

D-Index
79
Citations
19586
World Ranking
17710
National Ranking
8841

Overview

Richard I. Kelley is affiliated with the Kennedy Krieger Institute in the United States. Their research primarily focuses on fields encompassing Biochemistry, Genetics and Molecular Biology, Medicine, and Environmental Science.

The main areas of study include Psychiatry and Mental Health, Molecular Biology, Health, Toxicology and Mutagenesis, General Health Professions, and Cellular and Molecular Neuroscience. Their work covers topics such as Fibromyalgia and Chronic Fatigue Syndrome Research, Mitochondrial Function and Pathology, Health, Environment, Cognitive Aging, Climate Change and Health Impacts, Health and Conflict Studies, Genetic Neurodegenerative Diseases, and Genetics and Neurodevelopmental Disorders.

Frequent co-authors collaborating with Richard I. Kelley are:

  • Beatrice A. Golomb
  • Junhee Han
  • Bruce Miller
  • Leeann Bui
  • Hayley J. Koslik

They have published in several venues, including:

  • BMC Research Notes
  • International Journal of Environmental Research and Public Health
  • Journal of Pediatric Endocrinology and Metabolism

Recent publications include:

  • Gulf war illness: a tale of two genomes, 2024, published in BMC Research Notes
  • A Pilot Study of Bioenergetic Marker Relationships in Gulf War Illness: Phosphocreatine Recovery vs. Citric Acid Cycle Intermediates, 2021, published in International Journal of Environmental Research and Public Health
  • Barth syndrome with severe dilated cardiomyopathy and growth hormone resistance: a case report, 2021, published in Journal of Pediatric Endocrinology and Metabolism

Best Publications

  • Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies

    Daniel E. Michele;Rita Barresi;Motoi Kanagawa;Fumiaki Saito

  • Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies

    Gang Wang;Megan L. McCain;Luhan Yang;Aibin He

  • Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease

    Douglas C. Wallace;Xianxian Zheng;Marie T. Lott;John M. Shoffner

  • The Smith-Lemli-Opitz syndrome

    Richard I Kelley;Raoul C M Hennekam

  • A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

    Michael K. Cooper;Christopher A. Wassif;Patrycja A. Krakowiak;Jussi Taipale

  • Mutations in the 3β-Hydroxysterol Δ24-Reductase Gene Cause Desmosterolosis, an Autosomal Recessive Disorder of Cholesterol Biosynthesis

    Hans R. Waterham;Janet Koster;Gerrit Jan Romeijn;Raoul C.M. Hennekam

  • Diagnosis and Treatment of Maple Syrup Disease: A Study of 36 Patients

    D. Holmes Morton;Kevin A. Strauss;Donna L. Robinson;Erik G. Puffenberger

  • X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria

    Richard I. Kelley;John P. Cheatham;Bernard J. Clark;Michael A. Nigro

  • A Novel Nemaline Myopathy in the Amish Caused by a Mutation in Troponin T1

    Jennifer J. Johnston;Richard Ian Kelley;Richard Ian Kelley;Thomas O. Crawford;D. Holmes Morton

  • The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis.

    Ann E. Moser;Inderjit Singh;Inderjit Singh;Inderjit Singh;Frank R. Brown;Frank R. Brown;Frank R. Brown;George I. Solish;George I. Solish;George I. Solish

  • Barth syndrome

    Sarah Ln Clarke;Ann Bowron;Iris L Gonzalez;Sarah J Groves

  • Mitochondrial Disease in Autism Spectrum Disorder Patients: A Cohort Analysis

    Jacqueline R. Weissman;Richard I. Kelley;Margaret L. Bauman;Bruce H. Cohen

  • Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. [email protected].

    Jonathan M.J. Derry;Emmanuelle Gormally;Gary D. Means;Wei Zhao

  • Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts.

    Richard I. Kelley

  • Mutations in the gene encoding 3β-hydroxysteroid-Δ8,Δ7-isomerase cause X-linked dominant Conradi-Hunermann syndrome

    Nancy Braverman;Paul Lin;Fabian F. Moebius;Cassandra Obie

  • Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: does abnormal cholesterol metabolism affect the function of Sonic Hedgehog?

    Richard I. Kelley;Erich Roessler;Raoul C. M. Hennekam;Gerald L. Feldman

  • Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome.

    Anna Simon;Anna Simon;Elizabeth Drewe;Elizabeth Drewe;Jos W. M. van der Meer;Jos W. M. van der Meer;Richard J. Powell;Richard J. Powell

  • The Association of the DiGeorge Anomalad With Partial Monosomy of Chromosome 22

    Richard I. Kelley;Richard I. Kelley;Elaine H. Zackai;Elaine H. Zackai;Beverly S. Emanuel;Beverly S. Emanuel;Mildred Kistenmacher;Mildred Kistenmacher

  • Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels

    Charles A Stanley;Daniel E Hale;Paul M Coates;Carole L Hall;Carole L Hall

  • Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome.

    Elaine Tierney;Ngozi A. Nwokoro;Forbes D. Porter;Lisa S. Freund;Lisa S. Freund

Frequent Co-Authors

Ann B. Moser
Ann B. Moser Kennedy Krieger Institute
Erik G. Puffenberger
Erik G. Puffenberger Clinic for Special Children
Ronald J.A. Wanders
Ronald J.A. Wanders University of Amsterdam
Maximilian Muenke
Maximilian Muenke American College of Medical Genetics
Gerd Utermann
Gerd Utermann Innsbruck Medical University
Hans R. Waterham
Hans R. Waterham University of Amsterdam
Raoul C.M. Hennekam
Raoul C.M. Hennekam University of Amsterdam
Forbes D. Porter
Forbes D. Porter National Institutes of Health
Alejandro A. Schäffer
Alejandro A. Schäffer National Institutes of Health
Hugo W. Moser
Hugo W. Moser Kennedy Krieger Institute

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