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Genetics

D-Index
105
Citations
42474
World Ranking
627
National Ranking
317

Medicine

D-Index
106
Citations
43286
World Ranking
6515
National Ranking
3459

Overview

Alan H. Beggs is affiliated with Harvard Medical School in the United States. Their research spans multiple areas within biochemistry, genetics, molecular biology, and medicine, with a particular emphasis on genetics and molecular biology. The scientist's work engages deeply with genomics, rare diseases, muscle physiology, and disorders related to cardiomyopathy and neurodevelopment.

The main fields of study associated with Alan H. Beggs include:

  • Biochemistry, Genetics and Molecular Biology
  • Medicine

Among subfields, they have contributed extensively to:

  • Genetics
  • Molecular Biology
  • Cardiology and Cardiovascular Medicine
  • Cell Biology
  • Cancer Research

The specific topics dominating their publications highlight focused research on:

  • Genomics and Rare Diseases
  • Muscle Physiology and Disorders
  • Cardiomyopathy and Myosin Studies
  • Genetics and Neurodevelopmental Disorders
  • Genomic variations and chromosomal abnormalities
  • Neurogenetic and Muscular Disorders Research
  • Congenital heart defects research

Alan H. Beggs has co-authored numerous papers with the following frequent collaborators:

  • Casie A. Genetti (58 co-authored works)
  • Pankaj B. Agrawal (54 co-authored works)
  • Lindsay C. Burrage (32 co-authored works)
  • Carlos A. Bacino (32 co-authored works)
  • Lauren C. Briere (31 co-authored works)

The scientist has contributed significantly to the literature published in several key venues, including:

  • Genetics in Medicine (16 publications)
  • bioRxiv (Cold Spring Harbor Laboratory) (14 publications)
  • Neuromuscular Disorders (11 publications)
  • Genetics in Medicine Open (8 publications)
  • The American Journal of Human Genetics (7 publications)

Recent papers authored or co-authored by Alan H. Beggs include:

  • Directed evolution of a family of AAV capsid variants enabling potent muscle-directed gene delivery across species, 2021, Cell
  • Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases, 2021, Genome Medicine
  • Genome Sequencing for Diagnosing Rare Diseases, 2024, New England Journal of Medicine
  • AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature, 2020, Science Translational Medicine
  • Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial, 2023, The Lancet Neurology

Best Publications

  • Genotype-Phenotype Correlation in the Long-QT Syndrome Gene-Specific Triggers for Life-Threatening Arrhythmias

    Peter J. Schwartz;Silvia G Priori;Carla Spazzolini;Arthur J Moss

  • Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.

    Joshua M. Kaplan;Sung Han Kim;Kathryn N. North;Helmut Rennke

  • Genotype-Phenotype Correlation in the Long-QT Syndrome

    Peter J. Schwartz;Silvia G. Priori;Carla Spazzolini;Arthur J. Moss

  • 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

  • ACTN3 Genotype Is Associated with Human Elite Athletic Performance

    Nan Yang;Daniel G. MacArthur;Daniel G. MacArthur;Jason P. Gulbin;Allan G. Hahn

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

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

  • Competitive binding of α-actinin and calmodulin to the NMDA receptor

    Michael Wyszynski;Jerry Lin;Anuradha Rao;Elizabeth Nigh

  • Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations

    Igor Splawski;Katherine W. Timothy;Katherine W. Timothy;Niels Decher;Pradeep Kumar

  • Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

    Beryl B. Cummings;Beryl B. Cummings;Jamie L. Marshall;Jamie L. Marshall;Taru Tukiainen;Taru Tukiainen;Monkol Lek

  • Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia.

    Igor Splawski;Katherine W. Timothy;Michihiro Tateyama;Colleen E. Clancy

  • Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

    Jinkuk Kim;Chunguang Hu;Christelle Moufawad El Achkar;Lauren E. Black

  • Distinctive patterns of microRNA expression in primary muscular disorders

    Iris Eisenberg;Alal Eran;Ichizo Nishino;Maurizio Moggio

  • A common nonsense mutation results in alpha-actinin-3 deficiency in the general population.

    Kathryn N. North;Kathryn N. North;Nan Yang;Duangrurdee Wattanasirichaigoon;Michelle Mills

  • Multiple Serotonergic Brainstem Abnormalities in Sudden Infant Death Syndrome

    David S. Paterson;Felicia L. Trachtenberg;Eric G. Thompson;Richard A. Belliveau

  • Differential expression of the actin-binding proteins, α-actinin-2 and -3, in different species: implications for the evolution of functional redundancy

    Michelle A. Mills;Nan Yang;Ron P. Weinberger;Douglas L. Vander Woude

  • EXPLORING THE MOLECULAR-BASIS FOR VARIABILITY AMONG PATIENTS WITH BECKER MUSCULAR-DYSTROPHY - DYSTROPHIN GENE AND PROTEIN STUDIES

    Alan H. Beggs;Eric P. Hoffman;Judith R. Snyder;Kiichi Arahata

  • Mutations in dynamin 2 cause dominant centronuclear myopathy.

    Marc Bitoun;Svetlana Maugenre;Pierre-Yves Jeannet;Emmanuelle Lacène

  • Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients

    Hanna T. Gazda;Hanna T. Gazda;Mee Rie Sheen;Adrianna Vlachos;Adrianna Vlachos;Valerie Choesmel;Valerie Choesmel

  • Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathy

    Kristen J. Nowak;Kristen J. Nowak;Duangrurdee Wattanasirichaigoon;Hans H. Goebel;Matthew Wilce

  • Distinctive patterns of microRNA expression in primary muscular disorders (Proceedings of the National Academy of Sciences of the United States of America (2007) 104, 43, (17016-17021) DOI: 10.1073/pnas.0708115104)

    Iris Eisenberg;Alal Eran;Ichizo Nishino;Maurizio Moggio

Frequent Co-Authors

Louis M. Kunkel
Louis M. Kunkel Boston Children's Hospital
Ingrid A. Holm
Ingrid A. Holm Boston Children's Hospital
Colin A. Sieff
Colin A. Sieff Harvard University
Kathryn N. North
Kathryn N. North University of Melbourne
Timothy W. Yu
Timothy W. Yu Boston Children's Hospital
Nigel G. Laing
Nigel G. Laing University of Western Australia
Isaac S. Kohane
Isaac S. Kohane Harvard University
Carina Wallgren-Pettersson
Carina Wallgren-Pettersson University of Helsinki
Robert C. Green
Robert C. Green Brigham and Women's Hospital
Daniel G. MacArthur
Daniel G. MacArthur Garvan Institute of Medical Research

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