Pui Kwok, M.D./Ph.D.
Affiliations: | Dermatology | University of California, San Francisco, San Francisco, CA |
Area:
Analysis of Complex Genetic TraitsGoogle:
"Pui Kwok"Parents
Sign in to add mentor| Josef Fried | grad student | Chicago (Chemistry Tree) | |
| Maynard V. Olson | post-doc | Washington University |
Children
Sign in to add trainee| Justin W. Chen | research assistant | UCSF | |
| Stacy L. Musone | grad student | 2010 | UCSF |
| Bani Tamraz | grad student | 2011 | UCSF |
| Ernest T. Lam | grad student | 2012 | UCSF |
| TingFung Chan | post-doc | UCSF | |
| Stephanie Hesselson | post-doc | UCSF | |
| Ludmila Pawlikowska | post-doc | UCSF (Microtree) |
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Publications
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| Adhikari AN, Currier RJ, Tang H, et al. (2020) Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing. International Journal of Neonatal Screening. 6 |
| Nandakumar P, Lee D, Hoffmann TJ, et al. (2020) Analysis of putative cis-regulatory elements regulating blood pressure variation. Human Molecular Genetics |
| Young E, Abid HZ, Kwok PY, et al. (2020) Comprehensive Analysis of Human Subtelomeres by Whole Genome Mapping. Plos Genetics. 16: e1008347 |
| Heft IE, Mostovoy Y, Levy-Sakin M, et al. (2019) The Driver of Extreme Human-Specific Olduvai Repeat Expansion Remains Highly Active in the Human Genome. Genetics |
| Wong KHY, Levy-Sakin M, Ma W, et al. (2019) Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis. Molecular Genetics & Genomic Medicine. e1007 |
| Demaerel W, Mostovoy Y, Yilmaz F, et al. (2019) The 22q11 low copy repeats are characterized by unprecedented size and structural variability. Genome Research. 29: 1389-1401 |
| Leung AK, Liu MC, Li L, et al. (2019) OMMA enables population-scale analysis of complex genomic features and phylogenomic relationships from nanochannel-based optical maps. Gigascience. 8 |
| Chaisson MJP, Sanders AD, Zhao X, et al. (2019) Multi-platform discovery of haplotype-resolved structural variation in human genomes. Nature Communications. 10: 1784 |
| Levy-Sakin M, Pastor S, Mostovoy Y, et al. (2019) Genome maps across 26 human populations reveal population-specific patterns of structural variation. Nature Communications. 10: 1025 |
| Amendola LM, Berg JS, Horowitz CR, et al. (2018) The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations. American Journal of Human Genetics. 103: 319-327 |