Stef J F Letteboer

Author PubWeight™ 28.02^‹?›

Top papers

Rank	Title	Journal	Year	PubWeight™‹?›
1	Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.	Nat Genet	2010	3.99
2	Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.	Nat Genet	2007	3.22
3	CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.	Am J Hum Genet	2008	2.68
4	Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.	Cell	2012	2.54
5	Hdmx protein stability is regulated by the ubiquitin ligase activity of Mdm2.	J Biol Chem	2003	1.93
6	OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.	Am J Hum Genet	2009	1.83
7	Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.	Proc Natl Acad Sci U S A	2005	1.55
8	DYX1C1 is required for axonemal dynein assembly and ciliary motility.	Nat Genet	2013	1.44
9	Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice.	J Clin Invest	2011	1.31
10	FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies.	Hum Mol Genet	2012	1.15
11	Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.	Am J Hum Genet	2011	1.12
12	MPP5 recruits MPP4 to the CRB1 complex in photoreceptors.	Invest Ophthalmol Vis Sci	2005	1.09
13	FERM protein EPB41L5 is a novel member of the mammalian CRB-MPP5 polarity complex.	Exp Cell Res	2007	1.02
14	Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain.	PLoS Genet	2013	1.00
15	Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein.	Hum Mol Genet	2008	0.97
16	The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase.	Hum Mol Genet	2011	0.97
17	MPP1 links the Usher protein network and the Crumbs protein complex in the retina.	Hum Mol Genet	2007	0.95
18	Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.	Nat Commun	2016	0.75