Author details

Full Name

Perciliz L Tan

Affiliation

Center for Human Disease Modeling, Duke University School of Medicine

ORCID

Career Start Year

2002

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
31723061	Genome-wide suppressor screen identifies USP35/USP38 as therapeutic candidates for ciliopathies.	JCI Insight	2019
29429573	Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.	Am J Hum Genet	2018
30018450	Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome.	Sci Rep	2018
28886345	RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.	Am J Hum Genet	2017
28282489	Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration.	Invest Ophthalmol Vis Sci	2017
29051493	Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.	Nat Commun	2017
27329102	AMD and the alternative complement pathway: genetics and functional implications.	Hum Genomics	2016
25561519	BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.	Genome Res	2015
26235985	Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.	Am J Hum Genet	2015
25834187	BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.	Genome Res	2015
24995868	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
23685748	A functional variant in the CFI gene confers a high risk of age-related macular degeneration.	Nat Genet	2013
24036952	Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.	Nat Genet	2013
22302990	Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation.	J Cell Sci	2012
22705344	Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.	Ophthalmology	2012
21665990	Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.	Hum Mol Genet	2011
22019782	A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.	Nat Genet	2011
20385819	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
20385826	Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).	Proc Natl Acad Sci U S A	2010
19077438	Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations.	Hum Hered	2009
19808790	Thermosensory and mechanosensory perception in human genetic disease.	Hum Mol Genet	2009
19430481	A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.	Nat Genet	2009
18762586	Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses.	Arch Gen Psychiatry	2008
18753640	Toll-like receptor 3 and geographic atrophy in age-related macular degeneration.	N Engl J Med	2008
17558852	Bardet-Biedl Syndrome in an African-American patient: should the diagnostic criteria be expanded to include hydrometrocolpos?	Ophthalmic Genet	2007
17959775	Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function.	Proc Natl Acad Sci U S A	2007
18022666	Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet-Biedl syndrome.	Vision Res	2007
16170314	Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.	Nat Genet	2005
12364795	G protein-coupled receptors in Anopheles gambiae.	Science	2002
12139267	Caries, bitewings, and treatment decisions.	Aust Dent J	2002

1 - 30 of 30

Nikolas Pontikos

Moorfields Eye Hospital, UK UCL Institute of Ophthalmology, University College London

Career Start Year 2014

Number of shared co-authors 16

Panagiotis I Sergouniotis

University of Manchester

Career Start Year 2009

Number of shared co-authors 5

Adam P DeLuca

Institute for Vision Research, Carver College of Medicine, University of Iowa

Career Start Year 2008

Number of shared co-authors 3

Lijia Huang

Children's Hospital of Eastern Ontario (CHEO)

Career Start Year 2008

Number of shared co-authors 7

Theodore G Drivas

Department of Genetics University of Pennsylvania Philadelphia PA.

Career Start Year 2008

Number of shared co-authors 4

Emma L Baple

University of Exeter Medical School, Royal Devon & Exeter Hospital

Career Start Year 2007

Number of shared co-authors 8

Rinki Ratnapriya

National Eye Institute, National Institutes of Health

Career Start Year 2007

Number of shared co-authors 48

Shalini N Jhangiani

Baylor College of Medicine

Career Start Year 2007

Number of shared co-authors 17

Yiran Guo

Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia

Career Start Year 2007

Number of shared co-authors 15

Bryn D Webb

Icahn School of Medicine at Mount Sinai, University of Wisconsin-Madison

Career Start Year 2006

Number of shared co-authors 2

Irina R Tikhonova

School of Pharmacy, Queen's University Belfast

Career Start Year 2006

Number of shared co-authors 2

Katherine R Smith

Walter and Eliza Hall Institute of Medical Research

Career Start Year 2005

Number of shared co-authors 5

Michael F Wangler

Baylor College of Medicine

Career Start Year 2005

Number of shared co-authors 9

Richard Holt

Oxford Brookes University

Career Start Year 2003

Number of shared co-authors 3

Michael A Simpson

King's College London

Career Start Year 2002

Number of shared co-authors 11

Valentina Cipriani

William Harvey Research Institute, Queen Mary University of London

Career Start Year 2002

Number of shared co-authors 54

Gavin Arno

Institute of Ophthalmology, University College London

Career Start Year 2001

Number of shared co-authors 12

Fowzan S Alkuraya

King Faisal Specialist Hospital and Research Center

Career Start Year 2001

Number of shared co-authors 20

Tony Roscioli

Prince of Wales Hospital

Career Start Year 2000

Number of shared co-authors 10

Todd E Scheetz

the University of Iowa Carver College of Medicine

Career Start Year 2000

Number of shared co-authors 10

Jonathan A Bernstein

Stanford University

Career Start Year 2000

Number of shared co-authors 12

Terry A Braun

University of Iowa

Career Start Year 1999

Number of shared co-authors 6

Andrew E Timms

Center for Integrative Brain Research, Seattle Children's Research Institute

Career Start Year 1998

Number of shared co-authors 13

Carlo Rivolta

Institute of Molecular and Clinical Ophthalmology Basel (IOB)

Career Start Year 1997

Number of shared co-authors 18

Radha Ayyagari

Shiley Eye Institute, University of California San Diego

Career Start Year 1993

Number of shared co-authors 16

Graeme C M Black

Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital

Career Start Year 1991

Number of shared co-authors 15

Joseph G Gleeson

University of California

Career Start Year 1991

Number of shared co-authors 15

David R FitzPatrick

Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit

Career Start Year 1984

Number of shared co-authors 18

Edwin M Stone

Carver College of Medicine, University of Iowa, USA Institute for Vision Research

Career Start Year 1983

Number of shared co-authors 21

Val C Sheffield

Carver College of Medicine, University of Iowa

Career Start Year 1980

Number of shared co-authors 12

row(s) 1 - 30 of 30

Nicholas Katsanis

Northwestern University

Co-authored papers 28

Peter A Campochiaro

The Wilmer Eye Institute, Johns Hopkins University School of Medicine

Co-authored papers 8

Donald J Zack

Johns Hopkins University School of Medicine

Co-authored papers 8

Johanna M Seddon

University of Massachusetts Chan Medical School

Co-authored papers 6

Robyn Reynolds

Tufts University School of Medicine and Tufts Medical Center

Co-authored papers 6

Soumya Raychaudhuri

Brigham and Women's Hospital and Harvard Medical School

Co-authored papers 5

Betsy Campochiaro

Johns Hopkins School of Medicine

Co-authored papers 5

Mark J Daly

Massachusetts General Hospital

Co-authored papers 5

Stephan Ripke

Massachusetts General Hospital and Harvard Medical School

Co-authored papers 4

Eric H Souied

University of Paris Est-Creteil

Co-authored papers 4

Jesen Fagerness

Center for Human Genetic Research, Massachusetts General Hospital

Co-authored papers 4

Yi Yu

Tufts Medical Center

Co-authored papers 4

Philip L Beales

UCL Great Ormond Street Institute of Child Health, University College London

Co-authored papers 3

Milam A Brantley

University of Cambridge

Co-authored papers 3

Lucia Sobrin

Massachusetts Eye and Ear Infirmary

Co-authored papers 3

Gaetano R Barile

& Throat Hospital

Co-authored papers 3

Gabri??lle H S Buitendijk

Erasmus Medical Center

Co-authored papers 3

Rando Allikmets

Columbia University Medical Center

Co-authored papers 3

Aaron Lee

Harvard University, Moorfields Eye Hospital NHS Foundation Trust, St. John's Mercy Hospital, University of British Columbia, University of Washington, Washington University in Saint Louis

Co-authored papers 3

Andr?? G Uitterlinden

Erasmus University Medical Center

Co-authored papers 3

Caroline C W Klaver

Erasmus Medical Center

Co-authored papers 3

Roland Theodore Smith

Mount Sinai School of Medicine

Co-authored papers 3

Joanna E Merriam

Columbia University