Nicholas Katsanis

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Erica E DavisLurie Children's Hospital and Northwestern UniversityAdresse e-mail validée de luriechildrens.org
Edwin ohDuke UniversityAdresse e-mail validée de duke.edu
Michel LerouxSimon Fraser UniversityAdresse e-mail validée de sfu.ca
William S DavidsonProfessor of Molecular Biology and Biochemistry, Simon Fraser UniversityAdresse e-mail validée de sfu.ca
Maria KousiResearch Scientist, Massachusetts Institute of Technology (MIT) and the Broad Institute of MIT andAdresse e-mail validée de mit.edu
oliver blacqueUniversity College DublinAdresse e-mail validée de ucd.ie
Jane S GreenMemorial University of NewfoundlandAdresse e-mail validée de mun.ca
Peter ScamblerProfessor of Molecular MedicineAdresse e-mail validée de ich.ucl.ac.uk
Allen EghrariAssociate Professor, Johns Hopkins University School of MedicineAdresse e-mail validée de jhmi.edu
Junchul KimAssociate professor of psychology, University of TorontoAdresse e-mail validée de psych.utoronto.ca
Mark DalyDirector, Institute for Molecular Medicine Finland (FIMM) & Chief, ATGU, MGH & Broad InstituteAdresse e-mail validée de atgu.mgh.harvard.edu
Shannon FisherUniversity of PennsylvaniaAdresse e-mail validée de mail.med.upenn.edu
Edgar Otto, PhDAssociate Research Scientist, Internal Medicine-Nephrology, University of MichiganAdresse e-mail validée de umich.edu
Jeremy ReiterChair, Dept of Biochemistry, University of California, San FranciscoAdresse e-mail validée de ucsf.edu
Michael HauserDuke universityAdresse e-mail validée de duke.edu
Soumya RaychaudhuriHarvard Medical School; Brigham and Women's Hospital, Broad Institute, Univ of ManchesterAdresse e-mail validée de broadinstitute.org
Atsushi KamiyaJohns Hopkins University School of MedicineAdresse e-mail validée de jhmi.edu
Allison Ashley-KochDuke University Medical CenterAdresse e-mail validée de duke.edu
Jacques S BeckmannProf emeritus, UNILAdresse e-mail validée de unil.ch
Simon GregoryProfessor, Duke UniversityAdresse e-mail validée de duke.edu

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Nicholas Katsanis

Northwestern U and Rescindo Therapeutics

Adresse e-mail validée de rescindorx.com

genetics genomics human genetics


Titre Trier par citations Trier par année Trier par titre	Citée par Citée par	Année
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	1735	2005
The ciliopathies: an emerging class of human genetic disorders JL Badano, N Mitsuma, PL Beales, N Katsanis Annu. Rev. Genomics Hum. Genet. 7, 125-148, 2006	1290	2006
Ciliopathies F Hildebrandt, T Benzing, N Katsanis New England Journal of Medicine 364 (16), 1533-1543, 2011	1247	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	976	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	816	2004
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	790	2016
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	768	2003
Seven new loci associated with age-related macular degeneration AMD Gene Consortium Nature genetics 45 (4), 433, 2013	753	2013
The vertebrate primary cilium in development, homeostasis, and disease JM Gerdes, EE Davis, N Katsanis Cell 137 (1), 32-45, 2009	752	2009
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	677	2001
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	635	2005
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	629	2014
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	596	2011
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	543	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	449	2010
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression JC Kim, JL Badano, S Sibold, MA Esmail, J Hill, BE Hoskins, CC Leitch, ... Nature genetics 36 (5), 462-470, 2004	449	2004
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	435	2007
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	428	2013
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	427	2008
Beyond Mendel: an evolving view of human genetic disease transmission JL Badano, N Katsanis Nature Reviews Genetics 3 (10), 779-789, 2002	426	2002

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