P. L. Tan

发表

Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)

Aaron Y. Lee, R. T. Smith, M. Daly, 2010, Proceedings of the National Academy of Sciences.

Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration

Aaron Y. Lee, Gabriëlle H S Buitendijk, R. T. Smith, 2011, Human molecular genetics.

Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.

Aaron Y. Lee, Gabriëlle H S Buitendijk, R. T. Smith, 2012, Ophthalmology.

BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.

A. Reymond, P. Cramer, N. Katsanis, 2015, Genome research.

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

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

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

Sivakumar Gowrisankar, Soumya Raychaudhuri, Mark J. Daly, 2013, Nature Genetics.

A rare penetrant mutation in CFH confers high risk of age-related macular degeneration

Sivakumar Gowrisankar, Stephan Ripke, Soumya Raychaudhuri, 2011, Nature Genetics.

A functional variant in the CFI gene confers a high risk of age-related macular degeneration

Gabriëlle H S Buitendijk, B. J. Klevering, A. Uitterlinden, 2013, Nature Genetics.

Direct role of Bardet–Biedl syndrome proteins in transcriptional regulation

N. Katsanis, J. Badano, Hugo Naya, 2012, Journal of Cell Science.

Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses.

Akira Sawa, Nicholas Katsanis, Kazunori Nakajima, 2008, Archives of general psychiatry.

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

Kevin MacG. Adams, N. Katsanis, P. L. Tan, 2019, JCI insight.

Thermosensory and mechanosensory perception in human genetic disease.

Nicholas Katsanis, N. Katsanis, P. L. Tan, 2009, Human molecular genetics.

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

R. Pfundt, M. Reijnders, B. Franke, 2017, Nature Communications.

Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome

D. J. Price, N. Katsanis, P. L. Tan, 2018, Scientific Reports.

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

Ronald Cohn, Maria Kousi, Nicholas Katsanis, 2017, American journal of human genetics.

AMD and the alternative complement pathway: genetics and functional implications

N. Katsanis, P. L. Tan, C. Bowes Rickman, 2016, Human Genomics.

G Protein-Coupled Receptors in Anopheles gambiae

Hugh M Robertson, A. Cravchik, R. J. Pitts, 2002, Science.

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.

J. Sarles, J. Hugot, N. Katsanis, 2018, American journal of human genetics.

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

Colin A. Johnson, Michael A. Beer, R. Gibbs, 2009, Nature Genetics.

Bardet-Biedl Syndrome in an African-American Patient: Should the Diagnostic Criteria Be Expanded to Include Hydrometrocolpos?

V. McKusick, N. Katsanis, P. L. Tan, 2007, Ophthalmic genetics.

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

J. Lupski, S. Fisher, D. Jagger, 2005, Nature Genetics.

BRF1 mutations alter RNA polymerase III–dependent transcription and cause neurodevelopmental anomalies

A. Reymond, P. Cramer, N. Katsanis, 2015, Genome research.

Toll-like receptor 3 and geographic atrophy in age-related macular degeneration.

G. Parmigiani, P. Campochiaro, D. Zack, 2008, The New England journal of medicine.

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

P. Campochiaro, D. Zack, A. Ashley-Koch, 2017, Investigative ophthalmology & visual science.

Osteo-Oto-Hepato-Enteric Syndrome (O2HE) is caused by loss of function mutations in UNC45A

J. Sarles, J. Hugot, N. Katsanis, 2017, bioRxiv.

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

C. Gieger, A. Peters, W. Oertel, 2014, American journal of human genetics.

Analysis of 30 Genes (355 SNPS) Related to Energy Homeostasis for Association with Adiposity in European-American and Yup’ik Eskimo Populations

Stephen B. Johnson, P. Gregersen, W. Chung, 2008, Human Heredity.

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

Margaret A. Pericak-Vance, Nirubol Tosakulwong, Emily Y. Chew, 2010, Proceedings of the National Academy of Sciences.

Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet–Biedl syndrome

J. Lupski, S. Wu, N. Katsanis, 2007, Vision Research.

Loss of Bardet–Biedl syndrome proteins causes defects in peripheral sensory innervation and function

N. Katsanis, M. Caterina, F. Rice, 2007, Proceedings of the National Academy of Sciences.

Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome

N. Katsanis, P. L. Tan, C. Golzio, 2018, Scientific Reports.

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

R. Pfundt, N. Katsanis, S. Banka, 2017, American journal of human genetics.