School of Medicine
Showing 1-10 of 41 Results
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Gill Bejerano
Professor of Developmental Biology, of Computer Science, of Pediatrics (Genetics) and of Biomedical Data Science
Current Research and Scholarly Interests Dr. Bejerano, co-discoverer of ultraconserved elements, studies the Human Genome. His research focuses on genome sequence and function in both humans and related primate, mammalian and vertebrate species. He is deeply interested in mapping both coding and non-coding genome sequence variation to phenotype differences, and in extracting specific genetic insights from high throughput sequencing measurements, in the contexts of development and developmental abnormalities.
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Jon Bernstein
Professor of Pediatrics (Genetics) at the Lucile Salter Packard Children's Hospital and, by courtesy, of Genetics
Current Research and Scholarly Interests My research is focused on the diagnosis, discovery and delineation of rare genetic conditions with a focus of neurodevelopmental disorders. This work includes the application of novel computational methods and multi-omics profiling (whole genome sequencing, RNA sequencing, metabolomics). I additionally participate in an interdisciplinary project to develop induced pluripotent stem cell (iPSC) models of genetic neurodevelopmental disorders..
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Tina Cowan
Professor of Pathology (Clinical) and, by courtesy, of Pediatrics (Genetics) at the Stanford University Medical Center
Current Research and Scholarly Interests screening and diagnosis of patients with inborn errors of metabolism, including newborn screening, development of new testing methods and genotype/phenotype correlations.