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Journal Article
Scientific Reports, ISSN 2045-2322, 08/2015, Volume 5, Issue 1, p. 13187
Journal Article
Ophthalmology, ISSN 0161-6420, 2017, Volume 124, Issue 7, pp. 992 - 1003
Journal Article
Journal Article
Ophthalmology, ISSN 0161-6420, 05/2018, Volume 125, Issue 5, pp. 725 - 734
To analyze the genetic and clinical findings in retinitis pigmentosa (RP) patients of Ashkenazi Jewish (AJ) descent, aiming to identify genotype–phenotype... 
Journal Article
Ophthalmology, ISSN 0161-6420, 05/2018, Volume 125, Issue 5, pp. 725 - 734
Purpose: To analyze the genetic and clinical findings in retinitis pigmentosa (RP) patients of Ashkenazi Jewish (AJ) descent, aiming to identify... 
MUTATION ANALYSIS | IDENTIFY | USHER-SYNDROME | FAMILIES | OPHTHALMOLOGY | DOLICHOL | PREVALENCE | KINASE MAK | IDENTIFICATION | CILIARY LENGTH | DEGENERATION | Genetic research | Retinitis pigmentosa
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 110 - 117
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2011, Volume 89, Issue 2, pp. 253 - 264
Journal Article
Human mutation, ISSN 1059-7794, 9/2015, Volume 36, Issue 9, pp. 836 - 841
Genetic analysis of clinical phenotypes in consanguineous families is complicated by co-inheritance of large DNA regions carrying independent variants. Here we... 
DYSF | retinal degeneration | vision loss | pleiotropic phenotypes | ALMS1 | photoreceptor
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, p. 110
  The majority of the genetic causes of autosomal-recessive (ar) cone-rod dystrophy (CRD) are currently unknown. A combined approach of homozygosity mapping... 
Retina | Eye diseases | Mutation | Ribonucleic acid--RNA | Siblings
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 02/2011, Volume 88, Issue 2, p. 207
Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal degenerations caused by mutations in at least 50 genes. Using homozygosity mapping in... 
Enzymes | Tissue | Jews | Retina | Glycosylation | Mutation | Gene expression | Patients
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 08/2011, Volume 89, Issue 2, p. 253
A fundamental challenge in analyzing exome-sequence data is distinguishing pathogenic mutations from background polymorphisms. To address this problem in the... 
Genes | Rodents | Eye diseases | Mutation | Kinases | Polymorphism
Journal Article