Pui-Yan Kwok, MD, PhD

Professor
Cardiovascular Research Institute
+1 415 514-1128
Research Overview: 

The overall goal of our research is to develop the tools for genetic analysis of whole genomes and to apply these tools to elucidate the genetic factors associated with common human traits. We are actively involved in three areas of research. First, we are developing efficient methods for single DNA molecule analysis with the goals of mapping whole genomes and determining the haplotypes of diploid individuals unambiguously. Second, we are applying state-of-the-art genetic tools to search for genetic factors associated with complex human traits. Third, we are studying genes involved in drug transport and metabolism in different ethnic populations to identify gene variants that affect drug response or lead to adverse reactions.

On-going collaborative projects include studies of genetic susceptibility to psoriasis, narcolepsy, systemic lupus erythematosus, hemorrhagic risk in brain arteriovenous malformations, and sudden cardiac arrest; identification of functional variants in genes that affect drug response; search for genetic determinants for longevity; prediction of kidney transplantation outcomes based on the genetic, proteomic, and expression patterns of the recipients and the grafts; and the elucidation of the structure-function relationship of collagen genes, especially in the context of osteogenesis imperfecta.

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
None
Research Summary: 
Analysis of Complex Genetic Traits

Websites

Publications: 

Mutations in Metabotropic Glutamate Receptor 1 Contribute to Natural Short Sleep Trait.

Current biology : CB

Shi G, Yin C, Fan Z, Xing L, Mostovoy Y, Kwok PY, Ashbrook LH, Krystal AD, Ptácek LJ, Fu YH

The role of exome sequencing in newborn screening for inborn errors of metabolism.

Nature medicine

Adhikari AN, Gallagher RC, Wang Y, Currier RJ, Amatuni G, Bassaganyas L, Chen F, Kundu K, Kvale M, Mooney SD, Nussbaum RL, Randi SS, Sanford J, Shieh JT, Srinivasan R, Sunderam U, Tang H, Vaka D, Zou Y, Koenig BA, Kwok PY, Risch N, Puck JM, Brenner SE

Analysis of putative cis-regulatory elements regulating blood pressure variation.

Human molecular genetics

Nandakumar P, Lee D, Hoffmann TJ, Ehret GB, Arking D, Ranatunga D, Li M, Grove ML, Boerwinkle E, Schaefer C, Kwok PY, Iribarren C, Risch N, Chakravarti A

De novo mutation and skewed X-inactivation in girl with BCAP31-related syndrome.

Human mutation

Kao HJ, Chiang HL, Chen HH, Fan PC, Tu YF, Chou YY, Hwu WL, Lin CL, Kwok PY, Lee NC

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

Adhikari AN, Currier RJ, Tang H, Turgeon CT, Nussbaum RL, Srinivasan R, Sunderam U, Kwok PY, Brenner SE, Gavrilov D, Puck JM, Gallagher R