Christoph Friedburg

Author PubWeight™ 14.39^‹?›

Top papers

Rank	Title	Journal	Year	PubWeight™‹?›
1	Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure.	Proc Natl Acad Sci U S A	2002	1.65
2	Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.	PLoS One	2013	1.40
3	Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.	Am J Hum Genet	2012	1.25
4	A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation.	Invest Ophthalmol Vis Sci	2008	1.16
5	Genotyping microarray for CSNB-associated genes.	Invest Ophthalmol Vis Sci	2009	1.10
6	Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.	Hum Mutat	2011	1.06
7	Light responses in the mouse retina are prolonged upon targeted deletion of the HCN1 channel gene.	Eur J Neurosci	2008	0.95
8	Abnormalities of the long flash ERG in congenital stationary night blindness of the Schubert-Bornschein type.	Vision Res	2002	0.93
9	Fundus autofluorescence in carriers of choroideremia and correlation with electrophysiologic and psychophysical data.	Ophthalmology	2009	0.90
10	Automated segmentation of pathological cavities in optical coherence tomography scans.	Invest Ophthalmol Vis Sci	2013	0.89
11	Chromatic pupillometry dissects function of the three different light-sensitive retinal cell populations in RPE65 deficiency.	Invest Ophthalmol Vis Sci	2012	0.87
12	Automated segmentation of retinal blood vessels in spectral domain optical coherence tomography scans.	Biomed Opt Express	2012	0.87
13	Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.	Hum Mol Genet	2013	0.84
14	Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.	Invest Ophthalmol Vis Sci	2012	0.83
15	Improving detection of mild loss of retinal light increment sensitivity at the posterior pole with the microperimeter MP1.	Invest Ophthalmol Vis Sci	2013	0.77
16	Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.	Am J Med Genet A	2017	0.75