Citation Impact
Citing Papers
Activation and Function of the MAPKs and Their Substrates, the MAPK-Activated Protein Kinases
2011 Standout
Population genetic studies of retinitis pigmentosa.
1980
The Retinal Pigment Epithelium in Visual Function
2005 Standout
Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport
2006
The molecular basis of human retinal and vitreoretinal diseases
2010 Standout
Retinitis Pigmentosa: Genes and Disease Mechanisms
2011 Standout
Exploring the molecular basis of Bardet-Biedl syndrome
2001
Genetic and Mutational Analyses of a Large Multiethnic Bardet-Biedl Cohort Reveal a Minor Involvement of BBS6 and Delineate the Critical Intervals of Other Loci
2001
Polygenic control of Caenorhabditis elegans fat storage
2006 StandoutNobel
Retinitis pigmentosa
2006 Standout
Initial sequence of the chimpanzee genome and comparison with the human genome
2005 StandoutNature
Pitfalls of homozygosity mapping: an extended consanguineous Bardet–Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism
2006
Clinical Trial of Docosahexaenoic Acid in Patients With Retinitis PigmentosaReceiving Vitamin A Treatment
2004
Diagnostic criteria for Walker‐Warburg syndrome
1989 Standout
Genetic Interaction of BBS1 Mutations with Alleles at Other BBS Loci Can Result in Non-Mendelian Bardet-Biedl Syndrome
2003
Long-term Follow-up of the Physiologic Abnormalities and Fundus Changes in Fundus Albipunctatus
1990
A Core Complex of BBS Proteins Cooperates with the GTPase Rab8 to Promote Ciliary Membrane Biogenesis
2007 Standout
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study
2005
The epidemiology of retinitis pigmentosa in Denmark
2002
The oligogenic properties of Bardet-Biedl syndrome
2004
Retinopathy induced in mice by targeted disruption of the rhodopsin gene
1997 StandoutNobel
Obesity in children and young people: a crisis in public health
2004 Standout
A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
1990 StandoutNature
Retinitis pigmentosa
2006
The primary cilium: a signalling centre during vertebrate development
2010 Standout
Retinitis pigmentosa
1988
ERK and p38 MAPK-Activated Protein Kinases: a Family of Protein Kinases with Diverse Biological Functions
2004 Standout
Fundus albipunctatus: A clinical study of the fundus lesions, the physiologic deficit, and the vitamin a metabolism
1977
Antioxidant supplements for prevention of mortality in healthy participants and patients with various diseases
2012 Standout
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey
1999
Ocular phenotypes of three genetic variants of Bardet–Biedl syndrome
2004
Making sense of cilia in disease: The human ciliopathies
2009
Prevalence of Retinitis Pigmentosa in Maine
1984
Usher's syndrome—deafness and progressive blindness
1969
Ocular coloboma
1981
A Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa
1993
Risk Factors for Genetic Typing and Detection in Retinitis Pigmentosa
1980
Genes and mutations causing retinitis pigmentosa
2013 Standout
Meta-Analysis: High-Dosage Vitamin E Supplementation May Increase All-Cause Mortality
2005 Standout
Works of F. Ammann being referenced
Une nouvelle forme de fundus albipunctatus cum hemeralopia
1963
Une famille atteinte de colobomes irido-choroïdiens, d’hétérochromie irienne et de syndrome de Marian abortif
1964
Genetic and epidemiological investigations on pigmentary degeneration of the retina and allied disorders in Switzerland
1965
The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland
1969