Nicholas Katsanis
Nicholas Katsanis
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A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
BL Loeys, J Chen, ER Neptune, DP Judge, M Podowski, T Holm, ...
Nature genetics 37 (3), 275-281, 2005
F Hildebrandt, T Benzing, N Katsanis
New England Journal of Medicine 364 (16), 1533-1543, 2011
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
LG Fritsche, W Igl, JNC Bailey, F Grassmann, S Sengupta, ...
Nature genetics 48 (2), 134-143, 2016
The ciliopathies: an emerging class of human genetic disorders
JL Badano, N Mitsuma, PL Beales, N Katsanis
Annu. Rev. Genomics Hum. Genet. 7 (1), 125-148, 2006
Gene expression elucidates functional impact of polygenic risk for schizophrenia
M Fromer, P Roussos, SK Sieberts, JS Johnson, DH Kavanagh, ...
Nature neuroscience 19 (11), 1442-1453, 2016
Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene
JB Li, JM Gerdes, CJ Haycraft, Y Fan, TM Teslovich, H May-Simera, H Li, ...
Cell 117 (4), 541-552, 2004
Seven new loci associated with age-related macular degeneration
Nature genetics 45 (4), 433-439, 2013
The vertebrate primary cilium in development, homeostasis, and disease
JM Gerdes, EE Davis, N Katsanis
Cell 137 (1), 32-45, 2009
Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome
SJ Ansley, JL Badano, OE Blacque, J Hill, BE Hoskins, CC Leitch, ...
Nature 425 (6958), 628-633, 2003
Disruptive CHD8 mutations define a subtype of autism early in development
R Bernier, C Golzio, B Xiong, HA Stessman, BP Coe, O Penn, ...
Cell 158 (2), 263-276, 2014
Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder
N Katsanis, SJ Ansley, JL Badano, ER Eichers, RA Lewis, BE Hoskins, ...
Science 293 (5538), 2256-2259, 2001
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition
FR Garcia-Gonzalo, KC Corbit, MS Sirerol-Piquer, G Ramaswami, EA Otto, ...
Nature genetics 43 (8), 776-784, 2011
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates
AJ Ross, H May-Simera, ER Eichers, M Kai, J Hill, DJ Jagger, CC Leitch, ...
Nature genetics 37 (10), 1135-1140, 2005
Genetic variants near TIMP3 and high-density lipoprotein–associated loci influence susceptibility to age-related macular degeneration
W Chen, D Stambolian, AO Edwards, KE Branham, M Othman, ...
Proceedings of the National Academy of Sciences 107 (16), 7401-7406, 2010
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)
BM Neale, J Fagerness, R Reynolds, L Sobrin, M Parker, S Raychaudhuri, ...
Proceedings of the National Academy of Sciences 107 (16), 7395-7400, 2010
Molecular genetic testing and the future of clinical genomics
SH Katsanis, N Katsanis
Nature Reviews Genetics 14 (6), 415-426, 2013
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration
JM Seddon, Y Yu, EC Miller, R Reynolds, PL Tan, S Gowrisankar, ...
Nature genetics 45 (11), 1366-1370, 2013
Beyond Mendel: an evolving view of human genetic disease transmission
JL Badano, N Katsanis
Nature Reviews Genetics 3 (10), 779-789, 2002
Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response
JM Gerdes, Y Liu, NA Zaghloul, CC Leitch, SS Lawson, M Kato, ...
Nature genetics 39 (11), 1350-1360, 2007
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
CC Leitch, NA Zaghloul, EE Davis, C Stoetzel, A Diaz-Font, S Rix, ...
Nature genetics 40 (4), 443-448, 2008
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