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Genetics

D-Index
58
Citations
23683
World Ranking
3290
National Ranking
1433

Overview

Alan F. Scott is affiliated with Johns Hopkins University in the United States. Their research spans various topics within the fields of Biochemistry, Genetics, and Molecular Biology, as well as Environmental Science.

The main areas of study include:

  • Biochemistry, Genetics and Molecular Biology
  • Environmental Science

They have contributed extensively to several subfields, such as:

  • Molecular Biology
  • Genetics
  • Ecology
  • Nature and Landscape Conservation
  • Global and Planetary Change

The primary topics of Alan F. Scott's work cover:

  • Genomics and Phylogenetic Studies
  • Genomics and Rare Diseases
  • Molecular Biology Techniques and Applications
  • Genetic diversity and population structure
  • Genetic and phenotypic traits in livestock
  • Nutrition, Genetics, and Disease
  • Turtle Biology and Conservation

The scientist's recent papers include the following:

  • Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus, 2021, American Journal of Medical Genetics Part A
  • Divergent sensory and immune gene evolution in sea turtles with contrasting demographic and life histories, 2023, Proceedings of the National Academy of Sciences
  • Benchmarking ultra-high molecular weight DNA preservation methods for long-read and long-range sequencing, 2022, GigaScience
  • Chromosomal-level genome assembly of the scimitar-horned oryx: Insights into diversity and demography of a species extinct in the wild, 2020, Molecular Ecology Resources
  • A novel canis lupus familiaris reference genome improves variant resolution for use in breed-specific GWAS, 2021, Life Science Alliance

Their work has appeared frequently in venues such as:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • American Journal of Medical Genetics Part A
  • Genes
  • Preprints.org
  • Proceedings of the National Academy of Sciences

Alan F. Scott collaborates regularly with a network of co-authors, including:

  • David W. Mohr
  • Jacquelyn Mountcastle
  • Giulio Formenti
  • Robert W. Murphy
  • Sylke Winkler

Best Publications

  • Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

    Ada Hamosh;Alan F. Scott;Joanna S. Amberger;Carol A. Bocchini

  • OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.

    Joanna S. Amberger;Carol A. Bocchini;François Schiettecatte;Alan F. Scott

  • Multiple-laboratory comparison of microarray platforms

    Rafael A Irizarry;Daniel Warren;Forrest Spencer;Irene F Kim

  • Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man.

    Haig H. Kazazian;Corinne Wong;Hagop Youssoufian;Hagop Youssoufian;Alan F. Scott

  • Online Mendelian Inheritance in Man (OMIM).

    Ada Hamosh;Alan F. Scott;Joanna Amberger;David Valle

  • Reverse transcriptase encoded by a human transposable element.

    Stephen L. Mathias;Alan F. Scott;Haig H. Kazazian;Jef D. Boeke

  • McKusick's Online Mendelian Inheritance in Man (OMIM).

    Joanna S. Amberger;Carol A. Bocchini;Alan F. Scott;Ada Hamosh

  • OMIM.org: leveraging knowledge across phenotype-gene relationships.

    Joanna S. Amberger;Carol A. Bocchini;Alan F. Scott;Ada Hamosh

  • The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

    Jessica X. Chong;Kati J. Buckingham;Shalini N. Jhangiani;Corinne Boehm

  • A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4

    Terri H. Beaty;Jeffrey C. Murray;Mary L. Marazita;Ronald G. Munger

  • Detectable clonal mosaicism from birth to old age and its relationship to cancer.

    Cathy C. Laurie;Cecelia A Laurie;Kenneth Rice;Kimberly F. Doheny

  • Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2

    Ethylin Wang Jabs;Xiang Li;Alan F. Scott;Gregory Meyers

  • Isolation of an active human transposable element

    Beth A. Dombroski;Stephen L. Mathias;Elizabeth Nanthakumar;Alan F. Scott

  • Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

    Natasha T. Strande;Erin Rooney Riggs;Adam H. Buchanan;Ozge Ceyhan-Birsoy

  • Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

    Kerstin U. Ludwig;Elisabeth Mangold;Stefan Herms;Stefanie Nowak;Stefanie Nowak

  • Origin of the human L1 elements: Proposed progenitor genes deduced from a consensus DNA sequence

    Alan F. Scott;Barbara J. Schmeckpeper;Mona Abdelrazik;Catherine Theisen Comey

  • Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.

    Alexander J Doyle;Alexander J Doyle;Alexander J Doyle;Jefferson J Doyle;Seneca L Bessling;Samantha Maragh;Samantha Maragh

  • OMIM: Online Mendelian Inheritance in Man

    Alan F. Scott;Joanna Amberger;Brandon Brylawski;Victor A. McKusick

  • beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site.

    Stylianos E. Antonarakis;Stuart H. Irkin;Tu-Chen Cheng;Alan F. Scott

  • Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

    Marjolijn Renard;Catherine Francis;Rajarshi Ghosh;Alan F. Scott

Frequent Co-Authors

Terri H. Beaty
Terri H. Beaty Johns Hopkins University
Ethylin Wang Jabs
Ethylin Wang Jabs Icahn School of Medicine at Mount Sinai
Ingo Ruczinski
Ingo Ruczinski Johns Hopkins University
Mary L. Marazita
Mary L. Marazita University of Pittsburgh
Sun Ha Jee
Sun Ha Jee Yonsei University
M. Daniele Fallin
M. Daniele Fallin Johns Hopkins University
Haig H. Kazazian
Haig H. Kazazian Johns Hopkins University School of Medicine
Iain McIntosh
Iain McIntosh Johns Hopkins University
Kathleen C. Barnes
Kathleen C. Barnes University of Colorado Denver
Rasika A. Mathias
Rasika A. Mathias Johns Hopkins University

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