Publications

Comparative genome analysis of programmed DNA elimination in nematodes.
Genome Res 2017 Dec 8;27(12):2001-2014. Epub 2017 Nov 8.
Department of Biochemistry and Molecular Genetics, RNA Bioscience Initiative, University of Colorado School of Medicine, Aurora, Colorado 80045, USA.


A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies.
Am J Ophthalmol Case Rep 2017 Sep 21;7:102-106. Epub 2017 Jun 21.
Dept. of Pediatrics, Division of Genetics, University of California San Francisco, San Francisco, CA, USA.



In the Wrong Place with the Wrong SNP: The Association Between Stressful Neighborhoods and Cardiac Arrest Within Beta-2-adrenergic Receptor Variants.
Epidemiology 2016 Sep;27(5):656-62
From the aDepartment of Epidemiology, Columbia University, New York, NY; bCardiovascular Health Research Unit, University of Washington, Seattle, WA; cSeattle Children's Research Institute, Seattle, WA; dIDEAS Center, VA Salt Lake City Health Care System, Salt Lake City, UT; eNew York Academy of Medicine, New York, NY; fDepartment of Biostatistics, University of Washington, Seattle, WA; gCardiovascular Research Institute, University of California, San Francisco, CA; and hGarvan Institute of Medical Research, Sydney, Australia.

Atrial Fibrillation Associated Genetic Variants and Left Atrial Histology: Evaluation for Molecular Sub-Phenotypes.
J Cardiovasc Electrophysiol 2016 Aug 30. Epub 2016 Aug 30.
Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, University of California San Francisco, San Francisco, California, USA.




DLX4 is associated with orofacial clefting and abnormal jaw development.
Hum Mol Genet 2015 Aug 7;24(15):4340-52. Epub 2015 May 7.
Department of Pediatrics, University of California, San Francisco, San Francisco, CA 94143, USA, Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA,

A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences.
Cancer Discov 2015 Aug 1;5(8):878-91. Epub 2015 Jun 1.
Department of Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, California. Institute for Human Genetics, University of California, San Francisco, San Francisco, California. Department of Urology, University of California, San Francisco, San Francisco, California. UCSF Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, California.

Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort.
Genetics 2015 Aug 19;200(4):1285-95. Epub 2015 Jun 19.
Institute for Human Genetics, University of California, San Francisco, California 94143-0794 Department of Epidemiology and Biostatistics, University of California, San Francisco, California 94158-2549 Kaiser Permanente Northern California Division of Research, Oakland, California 94612-2304




Endothelin signaling activates Mef2c expression in the neural crest through a MEF2C-dependent positive-feedback transcriptional pathway.
Development 2015 Aug 9;142(16):2775-80. Epub 2015 Jul 9.
Cardiovascular Research Institute, University of California, San Francisco, CA 94143, USA Department of Biochemistry and Biophysics, University of California, San Francisco, CA 94143, USA


The genetics of splicing in neuroblastoma.
Cancer Discov 2015 Apr 30;5(4):380-95. Epub 2015 Jan 30.
Department of Neurology, University of California, San Francisco, San Francisco, California. Department of Neurosurgery, University of California, San Francisco, San Francisco, California. Department of Pediatrics, University of California, San Francisco, San Francisco, California.

Targeted deep sequencing reveals no definitive evidence for somatic mosaicism in atrial fibrillation.
Circ Cardiovasc Genet 2015 Feb 18;8(1):50-7. Epub 2014 Nov 18.
From the Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine (J.D.R., T.A.D., J.E.O., G.M.M.), Cardiovascular Research Institute (A.P., P.-Y.K., R.C.D.), and Department of Medicine, California Institute for Quantitative Biosciences, Institute for Human Genetics (R.C.D.), University of California San Francisco; Division of Cardiovascular Surgery, Sutter Health, Sacramento, CA (J.L.); and Arrhythmia Research Laboratory, University of Ottawa Heart Institute, Ottawa, Ontario, Canada (M.H.G.).

Who are the Okinawans? Ancestry, genome diversity, and implications for the genetic study of human longevity from a geographically isolated population.
J Gerontol A Biol Sci Med Sci 2014 Dec 20;69(12):1474-84. Epub 2014 Jan 20.
Pacific Health Research and Education Institute, Honolulu, Hawaii. Department of Research, Kuakini Medical Center, Honolulu, Hawaii. Okinawa Research Center for Longevity Science, Urasoe, Okinawa, Japan. Department of Geriatric Medicine, John A Burns School of Medicine, University of Hawaii, Honolulu, Hawaii.


Estimating genotype error rates from high-coverage next-generation sequence data.
Genome Res 2014 Nov 10;24(11):1734-9. Epub 2014 Oct 10.
Department of Epidemiology and Biostatistics, University of California San Francisco, San Francisco, California 94143, USA; Institute for Human Genetics, University of California San Francisco, San Francisco, California 94143, USA; Kaiser Permanente Northern California Division of Research, Oakland, California 94612, USA.

Expression quantitative trait loci and receptor pharmacology implicate Arg1 and the GABA-A receptor as therapeutic targets in neuroblastoma.
Cell Rep 2014 Nov 23;9(3):1034-46. Epub 2014 Oct 23.
Department of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Pediatrics, University of California, San Francisco, San Francisco, CA 94143, USA; Department of Neurological Surgery, University of California, San Francisco, San Francisco, CA 94143, USA. Electronic address:



Finished sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome.
BMC Genomics 2014 May 20;15:387. Epub 2014 May 20.
Department of Biochemistry and Molecular Genetics, Human Medical Genetics and Neuroscience Programs, University of Colorado School of Medicine, 12801 E, 17th Avenue, Aurora, CO 80045, USA.






Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.
Hum Mol Genet 2013 Feb 16;22(4):696-703. Epub 2012 Nov 16.
Division of Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, CA 94143-0316, USA.


Replication and extension of association between common genetic variants in SIM1 and human adiposity.
Obesity (Silver Spring) 2011 Dec 21;19(12):2394-2403. Epub 2011 Apr 21.
Diabetes Center and Department of Medicine, University of California, San Francisco, California, USA.









A common variant in the telomerase RNA component is associated with short telomere length.
PLoS One 2010 Sep 27;5(9):e13048. Epub 2010 Sep 27.
Department of Medicine, University of California San Francisco, San Francisco, California, United States of America.



Reduced expression of integrin alphavbeta8 is associated with brain arteriovenous malformation pathogenesis.
Am J Pathol 2010 Feb 17;176(2):1018-27. Epub 2009 Dec 17.
Center of Cerebrovascular Research, Department of Anesthesia and Perioperative Care, University of California, San Francisco, San Francisco, CA 94110, USA.

Cloning mice and men: prohibiting the use of iPS cells for human reproductive cloning.
Cell Stem Cell 2010 Jan;6(1):16-20
Program in Medical Ethics, Department of Medicine, The Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, CA 94143, USA.

Association of TGFBR2 polymorphism with risk of sudden cardiac arrest in patients with coronary artery disease.
Heart Rhythm 2009 Dec 28;6(12):1745-50. Epub 2009 Aug 28.
Section of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine, University of California, San Francisco, California 94143-1354, USA.





Functional genetic variation in the basal promoter of the organic cation/carnitine transporters OCTN1 (SLC22A4) and OCTN2 (SLC22A5).
J Pharmacol Exp Ther 2009 Apr 13;329(1):262-71. Epub 2009 Jan 13.
Department of Biopharmaceutical Sciences, University of California, San Francisco, San Francisco, CA 94158-2911, USA.





Angiopoietin-like 4 (ANGPTL4) gene polymorphisms and risk of brain arteriovenous malformations.
Cerebrovasc Dis 2011 7;31(4):338-45. Epub 2011 Jan 7.
Center for Cerebrovascular Research, Department of Anesthesia and Perioperative Care, University of California, San Francisco, 94110, USA.

A genome-wide investigation of copy number variation in patients with sporadic brain arteriovenous malformation.
PLoS One 2013 3;8(10):e71434. Epub 2013 Oct 3.
Center for Cerebrovascular Research, Department of Anesthesia and Perioperative Care, University of California San Francisco, San Francisco, California, United States of America.





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