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Genetics

D-Index
56
Citations
14084
World Ranking
3476
National Ranking
1507

Overview

Hane Lee is affiliated with the University of California, Los Angeles in the United States. Their research primarily spans the fields of Biochemistry, Genetics and Molecular Biology, with a significant focus also in Medicine. Within these broader disciplines, Lee has delved into subfields such as Genetics, Molecular Biology, Surgery, Cell Biology, and Physiology.

The scientist's work extensively covers topics related to Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, as well as Genomic variations and chromosomal abnormalities. Additional areas of study include RNA and protein synthesis mechanisms, Mitochondrial Function and Pathology, RNA modifications and cancer, and Retinal Development and Disorders.

Lee has contributed frequently to several publication venues, most notably:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • The American Journal of Human Genetics
  • Molecular Genetics & Genomic Medicine
  • American Journal of Medical Genetics Part A
  • International Journal of Molecular Sciences

Recent papers authored or co-authored by Lee include:

  • KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation (2020, Brain)
  • Disseminated Coccidioidomycosis Treated with Interferon-γ and Dupilumab (2020, New England Journal of Medicine)
  • Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes (2022, Brain)
  • Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing (2020, American Journal of Medical Genetics Part A)
  • GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder (2020, Genetics in Medicine)

Collaborations form a notable part of Lee's academic work. Frequent co-authors include:

  • Go Hun Seo
  • Stanley F. Nelson
  • Julián A. Martínez-Agosto
  • Yongjun Song
  • Rin Khang

Best Publications

  • Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation

    Ramin Nazarian;Hubing Shi;Qi Wang;Xiangju Kong

  • Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

    Hane Lee;Joshua L. Deignan;Naghmeh Dorrani;Samuel P. Strom

  • Melanoma whole-exome sequencing identifies (V600E)B-RAF amplification-mediated acquired B-RAF inhibitor resistance.

    Hubing Shi;Gatien Moriceau;Xiangju Kong;Mi Kyung Lee

  • Exome sequencing-based copy-number variation and loss of heterozygosity detection

    Jarupon Fah Sathirapongsasuti;Hane Lee;Basil A. J. Horst;Georg Brunner

  • Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions.

    Michael J. Ombrello;Elaine F. Remmers;Guangping Sun;Alexandra F. Freeman

  • U87MG Decoded: The Genomic Sequence of a Cytogenetically Aberrant Human Cancer Cell Line

    Michael James Clark;Nils Homer;Brian D. O'Connor;Zugen Chen

  • Mutations in PYCR1 cause cutis laxa with progeroid features

    Bruno Reversade;Nathalie Escande-Beillard;Aikaterini Dimopoulou;Bjorn Fischer

  • Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

    Laure Frésard;Craig Smail;Nicole M. Ferraro;Nicole A. Teran

  • Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

    Brent L. Fogel;Hane Lee;Joshua L. Deignan;Samuel P. Strom

  • ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

    Tobias Willer;Hane Lee;Mark Lommel;Takako Yoshida-Moriguchi

  • Exome sequencing for the diagnosis of 46,XY disorders of sex development.

    Ruth M. Baxter;Valerie A. Arboleda;Hane Lee;Hayk Barseghyan

  • Identification of EpCAM as the Gene for Congenital Tufting Enteropathy

    Mamata Sivagnanam;James L. Mueller;Hane Lee;Zugen Chen

  • SGK196 Is a Glycosylation-Specific O-Mannose Kinase Required for Dystroglycan Function

    Takako Yoshida-Moriguchi;Tobias Willer;Mary E. Anderson;David Venzke

  • Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome

    Valerie A Arboleda;Hane Lee;Rahul Parnaik;Alice Fleming

  • MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.

    Julia Wang;Rami Al-Ouran;Yanhui Hu;Seon-Young Kim

  • Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

    Frank J. Kaiser;Morad Ansari;Diana Braunholz;María Concepción Gil-Rodríguez;María Concepción Gil-Rodríguez

  • Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1

    David R Goudie;Mariella D'Alessandro;Barry Merriman;Hane Lee

  • Accuracy of phenotyping of autistic children based on Internet implemented parent report.

    Hane Lee;Alison R. Marvin;Tamara Watson;Judith Piggot

  • Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis

    Hane Lee;John M. Graham;John M. Graham;David L. Rimoin;Ralph S. Lachman;Ralph S. Lachman

  • Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

    Hane Lee;Alden Y. Huang;Lee-kai Wang;Amanda J. Yoon

Frequent Co-Authors

Stanley F. Nelson
Stanley F. Nelson University of California, Los Angeles
Eric Vilain
Eric Vilain George Washington University
Bruno Reversade
Bruno Reversade Agency for Science, Technology and Research
Jill A. Rosenfeld
Jill A. Rosenfeld Baylor College of Medicine
William A. Gahl
William A. Gahl National Institutes of Health
David Goldstein
David Goldstein University of New South Wales
Jennifer E. Posey
Jennifer E. Posey Baylor College of Medicine
Janet S. Sinsheimer
Janet S. Sinsheimer University of California, Los Angeles
Michael F. Wangler
Michael F. Wangler Baylor College of Medicine
John A. Phillips
John A. Phillips Vanderbilt University Medical Center

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