I’m a researcher interested in monogenic and multigenic human diseases, personalized medicine, genomics and bioinformatics. I have extensive academic and industry experience.
For several decades, I worked at the Pasteur Institute, the University of Michigan and Stanford University. During my PhD thesis, I was the first researcher to map the first genes involved in hearing loss. My postdoctoral work led to the establishment of the first Microarray Technology Core at the Cancer Center at the University of Michigan, and I was one of the founders of the Stanford Diabetes Research Center. I served as director of its Diabetes Genomics Analysis Core, the Sequencing Operations Center for Genomics and Personalized Medicine, and the Stem Cell Genomics at the Stanford Center of Excellence in Stem Cell Genomics. I also served as the director of Next Generation Sequencing and DNA Building at Zymergen.
During my academic research career, I used cutting-edge technologies, including genomics, next-generation sequencing and stem cell research, to resolve key scientific issues in monogenic and multigenic human diseases, such as hearing loss, kidney diseases, muscular dystrophy, cardiomyopathy and prostate cancer. I have co-authored more than 40 high-impact publications in the field of genomics.
My high priority is leading the Genomics Sequencing Facility at Cincinnati Children’s, ensuring it has state-of-the-art technology for clinicians and researchers to provide high-quality genomics testing for patients and research discoveries. My long-term research goal is to identify and advance clinical genetic diagnostics that would lead to early intervention or prevention and contribute to a patient's well-being. I aim to build a national / international collaborative program to identify genetic causes of rare and complex disorders and enhance clinical genetic diagnosis.
I have been a researcher for over 29 years and began working at Cincinnati Children’s in 2022.
MS: Immunogenetics of Diabetes, University of Paris VI, France, 1992- 1993.
PhD: Genetics, Pasteur Institute, Paris, France, 1993-1997.
Postdoctoral Training: Michigan University, Ann Arbor, MI, 1998-2001.
Research Associate: Michigan University, Ann Arbor, MI, 2002-2008.
Research Investigator: Michigan University, Ann Arbor, MI, 2009-2010.
Senior Scientist: Stanford University, Stanford, CA, 2011-2014.
Director: Stanford University, Stanford, CA, 2014-2020.
Director: Zymergen Inc., Emeryville, CA, 2021-2022.
Genetics
Human Genetics
Human genetics, genomics
Human Genetics
Personalized transcriptome signatures in a cardiomyopathy stem cell biobank. 2024.
Filaggrin loss-of-function variants are associated with atopic dermatitis phenotypes in a diverse, early-life prospective cohort. JCI insight. 2024; 9.
Single-cell analyses define a continuum of cell state and composition changes in the malignant transformation of polyps to colorectal cancer. Nature Genetics. 2022; 54:985-995.
Whole transcriptome profiling of prospective endomyocardial biopsies reveals prognostic and diagnostic signatures of cardiac allograft rejection. The Journal of Heart and Lung Transplantation. 2022; 41:840-848.
Obesity Drives Delayed Infarct Expansion, Inflammation, and Distinct Gene Networks in a Mouse Stroke Model. Translational Stroke Research. 2021; 12:331-346.
Expanded encyclopaedias of DNA elements in the human and mouse genomes. Nature. 2020; 583:699-710.
Perspectives on ENCODE. Nature. 2020; 583:693-698.
Chromosome-level de novo assembly of the pig-tailed macaque genome using linked-read sequencing and HiC proximity scaffolding. GigaScience. 2020; 9.
Molecular Choreography of Acute Exercise. Cell. 2020; 181:1112-1130.e16.
The Human Tumor Atlas Network: Charting Tumor Transitions across Space and Time at Single-Cell Resolution. Cell. 2020; 181:236-249.