World's Best Scientists 2026 revealed!
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Best Female Scientists
2025
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Genetics
USA
2024

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Best Female Scientists

D-Index
131
Citations
70844
World Ranking
337
National Ranking
205

Genetics

D-Index
131
Citations
70653
World Ranking
248
National Ranking
130

Research.com Recognitions

  • 2025 - Research.com Best Female Scientists Award
  • 2024 - Research.com Genetics in United States Leader Award
  • 2023 - Research.com Genetics in United States Leader Award
  • 2012 - William Allan Award, the American Society of Human Genetics
  • 1997 - Fellow of the American Academy of Arts and Sciences
  • 1995 - Fellow of the American Association for the Advancement of Science (AAAS)
  • 1990 - Member of the National Academy of Medicine (NAM)

Overview

Uta Francke is affiliated with Stanford University in the United States and has contributed to the fields of Medicine and Biochemistry, Genetics and Molecular Biology. Their research primarily spans Genetics, Molecular Biology, Hematology, Internal Medicine, and Rheumatology.

The scientist's work focuses on several specialized topics, including:

  • Blood Coagulation and Thrombosis Mechanisms
  • Venous Thromboembolism Diagnosis and Management
  • Moyamoya disease diagnosis and treatment
  • Genomic variations and chromosomal abnormalities
  • Congenital heart defects research
  • Neurogenetic and Muscular Disorders Research
  • Muscle Physiology and Disorders

Uta Francke has recently published several papers across different recognized venues. These include:

  • "Direct-to-consumer genetic testing for factor V Leiden and prothrombin 20210G>A: the consumer experience," 2020, Molecular Genetics & Genomic Medicine
  • "Optical genome mapping with genome sequencing identifies subtelomeric Xq28 deletion and inserted 7p22.3 duplication in a male with multisystem developmental disorder," 2024, American Journal of Medical Genetics Part A
  • "Table of Contents, Volume 193, Number 1, March 2023," 2023, American Journal of Medical Genetics Part C Seminars in Medical Genetics
  • "Autosomal recessive neuromuscular disorder in a transgenic line of mice," 2021, UNC Libraries
  • "Table of Contents, Volume 190, Number 4, December 2022," 2022, American Journal of Medical Genetics Part C Seminars in Medical Genetics

The frequent publication venues include:

  • American Journal of Medical Genetics Part C Seminars in Medical Genetics
  • Molecular Genetics & Genomic Medicine
  • American Journal of Medical Genetics Part A
  • UNC Libraries

Uta Francke collaborates regularly with several coauthors, including:

  • Benjamin D. Solomon
  • John M. Carey (4 publications)
  • John M. Opitz (4 publications)
  • Edward G. Clark (4 publications)
  • Judith G. Hall (4 publications)

Throughout their career, Uta Francke has received multiple recognitions, such as:

  • William Allan Award from the American Society of Human Genetics (2012)
  • Fellow of the American Academy of Arts and Sciences (1997)
  • Fellow of the American Association for the Advancement of Science (AAAS) (1995)
  • Member of the National Academy of Medicine (NAM) (1990)

Best Publications

  • Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.

    Ruthie E. Amir;Ignatia B. Van den Veyver;Mimi Wan;Charles Q. Tran

  • Tyrosine kinase receptor with extensive homology to EGF receptor shares chromosomal location with neu oncogene.

    Lisa Coussens;Teresa L. Yang-Feng;Yu Cheng Liao;Ellson Chen

  • Insulin-like growth factor I receptor primary structure: comparison with insulin receptor suggests structural determinants that define functional specificity.

    A Ullrich;A Gray;A W Tam;T Yang-Feng

  • Human proto-oncogene c-kit: a new cell surface receptor tyrosine kinase for an unidentified ligand.

    Y. Yarden;W. J. Kuang;T. Yang-Feng;L. Coussens

  • Structure of the receptor for platelet-derived growth factor helps define a family of closely related growth factor receptors

    Y. Yarden;J. A. Escobedo;W. J. Kuang;T. L. Yang-Feng

  • Multiple, distinct forms of bovine and human protein kinase C suggest diversity in cellular signaling pathways.

    Lisa Coussens;Peter J. Parker;Lucy Rhee;Teresa L. Yang-Feng

  • Isolation of a novel gene mutated in Wiskott-Aldrich syndrome

    Jonathan M.J. Derry;Hans D. Ochs;Uta Francke;Uta Francke

  • 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

  • Wiskott–Aldrich Syndrome Protein, a Novel Effector for the GTPase CDC42Hs, Is Implicated in Actin Polymerization

    Marc Symons;Jonathan M.J Derry;Brian Karlak;Sharon Jiang

  • The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome

    Alejandro Aruffo;Alejandro Aruffo;Mary Farrington;Diane Hollenbaugh;Xu Li

  • Cloning, sequencing, and expression of the gene coding for the human platelet alpha 2-adrenergic receptor

    B. K. Kobilka;H. Matsui;T. S. Kobilka;T. L. Yang-Feng

  • cDNA for the human beta 2-adrenergic receptor: a protein with multiple membrane-spanning domains and encoded by a gene whose chromosomal location is shared with that of the receptor for platelet-derived growth factor.

    Brian K. Kobilka;Richard A. F. Dixon;Thomas Frielle;Henrik G. Dohlman

  • Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion.

    Vincent M. Riccardi;Eva Sujansky;Ann C. Smith;Uta Francke

  • NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21

    Joseph R. Arron;Monte M. Winslow;Alberto Polleri;Ching Pin Chang

  • The neu Gene: an erbB-Homologous Gene Distinct from and Unlinked to the Gene Encoding the EGF Receptor

    Alan L. Schechter;Mien Chie Hung;Lalitha Vaidyanathan;Robert A. Weinberg

  • An intronless gene encoding a potential member of the family of receptors coupled to guanine nucleotide regulatory proteins

    Brian K. Kobilka;Thomas Frielle;Sheila Collins;Theresa Yang-Feng

  • Identification of a Gene (GPR30) with Homology to the G-Protein-Coupled Receptor Superfamily Associated with Estrogen Receptor Expression in Breast Cancer

    Charles Carmeci;Devon A. Thompson;Huijun Z. Ring;Uta Francke;Uta Francke

  • Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis.

    James J. Cali;Chih Lin Hsieh;Chih Lin Hsieh;Uta Francke;Uta Francke;David W. Russell

  • Effect of mutation type and location on clinical outcome in 1,013 probands with marfan syndrome or related phenotypes and FBN1 mutations : An international study

    L. Faivre;G. Collod-Beroud;G. Collod-Beroud;B.L. Loeys;A. Child

  • Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.

    Chuong B. Do;Joyce Y. Tung;Elizabeth Dorfman;Amy K. Kiefer

Frequent Co-Authors

Teresa L. Yang-Feng
Teresa L. Yang-Feng Yale University
David E. Barton
David E. Barton University College Dublin
Chih-Lin Hsieh
Chih-Lin Hsieh University of Southern California
Tayfun Ozcelik
Tayfun Ozcelik Bilkent University
Thomas B. Shows
Thomas B. Shows Roswell Park Cancer Institute
Christophe Béroud
Christophe Béroud Aix-Marseille University
Peter L. Pearson
Peter L. Pearson Universidade de São Paulo
David A. Hinds
David A. Hinds 23andMe (United States)
P. Meera Khan
P. Meera Khan Leiden University
Andries Westerveld
Andries Westerveld University of Amsterdam

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