World's Best Scientists 2026 revealed!
Award Badge
Genetics
USA
2025

D-Index & Metrics

Genetics

D-Index
138
Citations
70353
World Ranking
200
National Ranking
105

Medicine

D-Index
141
Citations
73707
World Ranking
1627
National Ranking
946

Research.com Recognitions

  • 2025 - Research.com Genetics in United States Leader Award
  • 2024 - Research.com Genetics in United States Leader Award
  • 2023 - Research.com Genetics in United States Leader Award
  • 2011 - Member of the National Academy of Sciences
  • 2007 - William Allan Award, the American Society of Human Genetics

Overview

Arthur L. Beaudet is affiliated with the Baylor College of Medicine in the United States. Their research spans biochemistry, genetics, and molecular biology, with a focus on medicine. The main subfields of study include molecular biology, genetics, pediatrics, perinatology and child health, cancer research, and history.

The primary research topics addressed by Beaudet cover prenatal screening and diagnostics, genetic syndromes and imprinting, genomic variations and chromosomal abnormalities, epigenetics and DNA methylation, genetics and neurodevelopmental disorders, fetal and pediatric neurological disorders, and CRISPR and genetic engineering.

Beaudet has authored multiple recent papers, including:

  • Human and mouse essentiality screens as a resource for disease gene discovery, 2020, Nature Communications
  • A resource of targeted mutant mouse lines for 5,061 genes, 2021, Nature Genetics
  • Centers for Mendelian Genomics: A decade of facilitating gene discovery, 2022, Genetics in Medicine
  • CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels, 2020, Genetics in Medicine
  • Effects of eight neuropsychiatric copy number variants on human brain structure, 2021, Translational Psychiatry

Frequent co-authors who have collaborated with Beaudet include Xinming Zhuo, Amy M. Breman, Lauryl M. J. Nutter, Jason D. Heaney, and Radislav Sedláček.

Beaudet's research has been published in several venues multiple times. Notable publication venues with more than one paper include bioRxiv (Cold Spring Harbor Laboratory), Prenatal Diagnosis, Genetics in Medicine, eLife, and Nature Communications.

Throughout their career, Beaudet has received recognition such as being named a member of the National Academy of Sciences in 2011 and receiving the William Allan Award from the American Society of Human Genetics in 2007.

Best Publications

  • Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

    Yaping Yang;Donna M. Muzny;Jeffrey G. Reid;Matthew N. Bainbridge

  • Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

    Harry T. Orr;Ming yi Chung;Sandro Banfi;Thomas J. Kwiatkowski

  • The NIH Roadmap Epigenomics Mapping Consortium

    Bradley E Bernstein;John A Stamatoyannopoulos;Joseph F Costello;Bing Ren

  • Chromosomal microarray versus karyotyping for prenatal diagnosis

    Ronald J. Wapner;Christa Lese Martin;Brynn Levy;Blake C. Ballif

  • Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.

    Stephan J. Sanders;Xin He;A. Jeremy Willsey;A. Gulhan Ercan-Sencicek

  • Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

    Stephan J. Sanders;A. Gulhan Ercan-Sencicek;Vanessa Hus;Rui Luo

  • Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

    Yaping Yang;Donna M. Muzny;Fan Xia;Zhiyv Niu

  • High-throughput discovery of novel developmental phenotypes

    Mary E. Dickinson;Ann M. Flenniken;Xiao Ji;Lydia Teboul

  • Evaluation, Diagnosis, and Treatment of Gastrointestinal Disorders in Individuals With ASDs: A Consensus Report

    Timothy Buie;Daniel B. Campbell;George J. Fuchs;Glenn T. Furuta;Glenn T. Furuta

  • De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.

    Toshinobu Matsuura;James S. Sutcliffe;Ping Fang;Robert-Jan Galjaard

  • MUTATION OF THE ANGELMAN UBIQUITIN LIGASE IN MICE CAUSES INCREASED CYTOPLASMIC P53 AND DEFICITS OF CONTEXTUAL LEARNING AND LONG-TERM POTENTIATION

    Y. H. Jiang;D. Armstrong;U. Albrecht;C. M. Atkins

  • Genomic DNA transfer with a high-capacity adenovirus vector results in improved in vivo gene expression and decreased toxicity

    Gudrun Schiedner;Núria Morral;Núria Morral;Robin J. Parks;Ying Wu

  • Decreased resistance to bacterial infection and granulocyte defects in IAP-deficient mice

    Frederik P. Lindberg;Daniel C. Bullard;Tony E. Caver;Hattie D. Gresham

  • Sequential contribution of L- and P-selectin to leukocyte rolling in vivo.

    K Ley;D C Bullard;M L Arbonés;R Bosse

  • Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia

    Richard J.L. Anney;Richard J.L. Anney;Stephan Ripke;Stephan Ripke;Stephan Ripke;Verneri Anttila;Jakob Grove;Jakob Grove

  • P-Selectin or intercellular adhesion molecule (ICAM)-1 deficiency substantially protects against atherosclerosis in apolipoprotein E-deficient mice.

    Robert G. Collins;Rizwan Velji;Natalia V. Guevara;M. John Hicks

  • Inflammatory and immune responses are impaired in mice deficient in intercellular adhesion molecule 1

    J. E. Sligh;C. M. Ballantyne;S. S. Rich;H. K. Hawkins

  • Angelman syndrome 2005: updated consensus for diagnostic criteria.

    Charles A. Williams;Arthur L. Beaudet;Jill Clayton-Smith;Joan H. Knoll

  • Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

    Trilochan Sahoo;Daniela del Gaudio;Jennifer R German;Marwan Shinawi

  • Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

    Jennifer E. Posey;Tamar Harel;Pengfei Liu;Jill A. Rosenfeld

Frequent Co-Authors

James R. Lupski
James R. Lupski Baylor College of Medicine
Chad A. Shaw
Chad A. Shaw Baylor College of Medicine
Ankita Patel
Ankita Patel Baylor College of Medicine
Christine M. Eng
Christine M. Eng Baylor College of Medicine
Carlos A. Bacino
Carlos A. Bacino Baylor College of Medicine
Daniel C. Bullard
Daniel C. Bullard University of Alabama at Birmingham
Pawel Stankiewicz
Pawel Stankiewicz Baylor College of Medicine
Seema R. Lalani
Seema R. Lalani Baylor College of Medicine
Trilochan Sahoo
Trilochan Sahoo Baylor College of Medicine
Sau Wai Cheung
Sau Wai Cheung Baylor College of Medicine

If you think any of the details on this page are incorrect, let us know.

Report an issue

We appreciate your kind effort to assist us to improve this page, it would be helpful providing us with as much detail as possible in the text box below:

Related Online Degrees & Career Pathways

Exploring Genetics in the USA opens diverse career paths in healthcare and research. Many students interested in genetics also consider health sciences and nursing for stable job prospects and flexibility. With the rise of distance learning, online programs are more accessible and affordable than ever.

If you're seeking flexible and budget-friendly educational options, check out the cheapest online nurse practitioner programs or explore comprehensive online nursing degree programs. For those aiming for advanced practice roles, the most affordable bsn to dnp programs online offer a streamlined path from a Bachelor of Science in Nursing (BSN) to a Doctor of Nursing Practice (DNP).

Registered nurses looking to advance can also benefit from the cheapest rn to bsn online options. These online degrees are designed to fit within busy schedules, making it easier for working professionals to upskill and specialize in areas like genetics, precision medicine, or clinical research. The flexible learning formats help meet the evolving needs of healthcare and science careers.

Best Scientists Citing Arthur L. Beaudet

Trending Scientists

Recently Published Articles