Perciliz L Tan

Perciliz L Tan

UNVERIFIED PROFILE

Are you Perciliz L Tan?   Register this Author

Register author
Perciliz L Tan

Perciliz L Tan

Publications by authors named "Perciliz L Tan"

Are you Perciliz L Tan?   Register this Author

28Publications

1174Reads

16Profile Views

Genome-wide suppressor screen identifies USP35/USP38 as therapeutic candidates for ciliopathies.

JCI Insight 2019 Nov 14;4(22). Epub 2019 Nov 14.

Center for Human Disease Modeling, Duke University School of Medicine, Durham, North Carolina, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1172/jci.insight.130516DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6948861PMC
November 2019

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

Am J Hum Genet 2017 Sep;101(3):466-477

Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2017.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5591022PMC
September 2017

Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration.

Invest Ophthalmol Vis Sci 2017 03;58(3):1570-1576

Center for Human Disease Modeling, Duke University Medical Center, Durham, North Carolina, United States 2Department of Cell Biology, Duke University Medical Center, Durham, North Carolina, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.16-20867DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6022411PMC
March 2017

AMD and the alternative complement pathway: genetics and functional implications.

Hum Genomics 2016 06 21;10(1):23. Epub 2016 Jun 21.

Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, 27710, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s40246-016-0079-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4915094PMC
June 2016

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

View Article

Download full-text PDF

Source
https://clinicforspecialchildren.org/wp-content/uploads/2015
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S000292971500280
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2015.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573244PMC
August 2015

Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome.

Am J Hum Genet 2014 Jul;95(1):85-95

Neurologische Klinik und Poliklinik, Klinikum rechts der Isar, Technische Universität München, 81675 Munich, Germany; Institut für Humangenetik, Helmholtz Zentrum München, 85764 Munich, Germany; Institut für Humangenetik, Technische Universität München, 81675 Munich, Germany; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany; Department of Neurology and Neurosciences, Center for Sleep Sciences and Medicine, Stanford University, Palo Alto, CA 94304, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2014.06.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4085638PMC
July 2014

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nat Genet 2013 Nov 15;45(11):1366-70. Epub 2013 Sep 15.

1] Ophthalmic Epidemiology and Genetics Service, New England Eye Center, Tufts Medical Center, Boston, Massachusetts, USA. [2] Department of Ophthalmology, Tufts University School of Medicine, Boston, Massachusetts, USA. [3] Sackler School of Graduate Biomedical Sciences, Tufts University, Boston, Massachusetts, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.2741DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3902040PMC
November 2013

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.

Proc Natl Acad Sci U S A 2010 Apr 12;107(16):7401-6. Epub 2010 Apr 12.

Center for Statistical Genetics, Biostatistics, University of Michigan, Ann Arbor, MI 48109, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.0912702107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2867722PMC
April 2010

Thermosensory and mechanosensory perception in human genetic disease.

Hum Mol Genet 2009 Oct;18(R2):R146-55

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddp412DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2758705PMC
October 2009

Bardet-Biedl Syndrome in an African-American patient: should the diagnostic criteria be expanded to include hydrometrocolpos?

Ophthalmic Genet 2007 Jun;28(2):95-9

The Wilmer Eye Institute, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.

View Article

Download full-text PDF

Source
http://www.tandfonline.com/doi/full/10.1080/1381681070120954
Publisher Site
http://dx.doi.org/10.1080/13816810701209545DOI Listing
June 2007