The oligogenic properties of Bardet-Biedl syndromeKATSANIS, Nicholas.Human molecular genetics (Print). 2004, Vol 13, pp R65-R71, issn 0964-6906, NS1Article

Thermosensory and mechanosensory perception in human genetic diseaseTAN, Perciliz L; KATSANIS, Nicholas.Human molecular genetics (Print). 2009, Vol 18, issn 0964-6906, R146-R155, NS2Article

Functional modules, mutational load and human genetic diseaseZAGHLOUL, Norann A; KATSANIS, Nicholas.Trends in genetics (Regular ed.). 2010, Vol 26, Num 4, pp 168-176, issn 0168-9525, 9 p.Article

Context-Dependent Regulation of Wnt Signaling through the Primary CiliumOH, Edwin C; KATSANIS, Nicholas.Journal of the American Society of Nephrology. 2013, Vol 24, Num 1, pp 10-18, issn 1046-6673, 9 p.Article

Small molecule intervention in microtubule- associated human diseaseGERDES, Jantje M; KATSANIS, Nicholas.Human molecular genetics (Print). 2005, Vol 14, pp R291-R300, issn 0964-6906, NSArticle

An evaluation of the draft human genome sequenceKATSANIS, Nicholas; WORLEY, Kim C; LUPSKI, James R et al.Nature genetics. 2001, Vol 29, Num 1, pp 88-91, issn 1061-4036Article

CiliopathiesHILDEBRANDT, Friedhelm; BENZING, Thomas; KATSANIS, Nicholas et al.The New England journal of medicine. 2011, Vol 364, Num 16, pp 1533-1543, issn 0028-4793, 11 p.Article

The emerging complexity of the vertebrate cilium : New functional roles for an ancient organelleDAVIS, Erica E; BRUECKNER, Martina; KATSANIS, Nicholas et al.Developmental cell. 2006, Vol 11, Num 1, pp 9-19, issn 1534-5807, 11 p.Article

Exploring the molecular basis of Bardet-Biedl syndromeKATSANIS, Nicholas; LUPSKI, James R; BEALES, Philip L et al.Human molecular genetics (Print). 2001, Vol 10, Num 20, pp 2293-2299, issn 0964-6906Article

The centrosome in human genetic diseaseBADANO, Jose L; TESLOVICH, Tanya M; KATSANIS, Nicholas et al.Nature reviews. Genetics (Print). 2005, Vol 6, Num 3, pp 194-205, issn 1471-0056, 12 p.Article

New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosisBADANO, Jose L; INOUE, Ken; KATSANIS, Nicholas et al.Clinical chemistry (Baltimore, Md.). 2001, Vol 47, Num 5, pp 838-843, issn 0009-9147Article

Triallelic inheritance: a bridge between Mendelian and multifactorial traitsEICHERS, Erica R; LEWIS, Richard Alan; KATSANIS, Nicholas et al.Annals of medicine (Helsinki). 2004, Vol 36, Num 4, pp 262-272, issn 0785-3890, 11 p.Article

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogsMERVEILLE, Anne-Christine; DAVIS, Erica E; CLERCX, Cecile et al.Nature genetics. 2011, Vol 43, Num 1, pp 72-78, issn 1061-4036, 7 p.Article

Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individualsJANSSEN, Sabine; RAMASWAMI, Gokul; OTTO, Edgar A et al.Human genetics. 2011, Vol 129, Num 1, pp 79-90, issn 0340-6717, 12 p.Article

A rare penetrant mutation in CFH confers high risk of age-related macular degenerationRAYCHAUDHURI, Soumya; IARTCHOUK, Oleg; REYNOLDS, Robyn et al.Nature genetics. 2011, Vol 43, Num 12, pp 1232-1236, issn 1061-4036, 5 p.Article

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathyOTTO, Edgar A; HURD, Toby W; VAN REEUWIJK, Jeroen et al.Nature genetics. 2010, Vol 42, Num 10, pp 840-850, issn 1061-4036, 11 p.Article

Planar Cell Polarity Acts Through Septins to Control Collective Cell Movement and CiliogenesisSU KYOUNG KIM; SHINDO, Asako; WALLINGFORD, John B et al.Science (Washington, D.C.). 2010, Vol 329, Num 5997, pp 1337-1340, issn 0036-8075, 4 p.Article

The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formationDAWE, Helen R; SMITH, Ursula M; AFFORD, Simon C et al.Human molecular genetics (Print). 2007, Vol 16, Num 2, pp 173-186, issn 0964-6906, 14 p.Article

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivityEICHERS, Erica R; ABD-EL-BARR, Muhammad M; JUSTICE, Monica J et al.Human genetics. 2006, Vol 120, Num 2, pp 211-226, issn 0340-6717, 16 p.Article

Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1EICHERS, Erica R; GREEN, Jane S; STOCKTON, David W et al.American journal of human genetics. 2002, Vol 70, Num 4, pp 955-964, issn 0002-9297Article

Ataxia, Dementia, and Hypogonadotropism Caused by Disordered UbiquitinationMARGOLIN, David H; KOUSI, Maria; ALDRIN, Stephanie V et al.The New England journal of medicine. 2013, Vol 368, Num 21, pp 1992-2003, issn 0028-4793, 12 p.Article

Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy LocusJEONG HO LEE; SILHAVY, Jennifer L; GABRIEL, Stacey B et al.Science (Washington, D.C.). 2012, Vol 335, Num 6071, pp 966-969, issn 0036-8075, 4 p.Article

Prevalence and Severity of Fuchs Corneal Dystrophy in Tangier IslandEGHRARI, Allen O; MCGLUMPHY, Elyse J; ILIFF, Benjamin W et al.American journal of ophthalmology. 2012, Vol 153, Num 6, pp 1067-1072, issn 0002-9394, 6 p.Article

Disruption of a Ciliary B9 Protein Complex Causes Meckel SyndromeDOWDLE, William E; ROBINSON, Jon F; ZERRES, Klaus et al.American journal of human genetics. 2011, Vol 89, Num 1, pp 94-110, issn 0002-9297, 17 p.Article

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrumDAVIS, Erica E; QI ZHANG; MUZNY, Donna M et al.Nature genetics. 2011, Vol 43, Num 3, pp 189-196, issn 1061-4036, 8 p.Article