Самер Хатиб

Научные публикации

• Genetic and Clinical Analyses of the KIZ-c.226C>T Variant Resulting in a Dual Mutational Mechanism
• Genome wide association study and genomic risk prediction of age related macular degeneration in Israel
• Simultaneous Detection of Common Founder Mutations Using a Cost-Effective Deep Sequencing Panel
• Nationwide Prevalence of Inherited Retinal Diseases in the Israeli Population
• Best Disease: Global Mutations Review, Genotype-Phenotype Correlation, and Prevalence Analysis in the Israeli Population
• Disease quiescence in endophthalmitis patients treated with anti-VEGF injections for retinal pathologies
• KCNV2-associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3
• Genome-wide association study and genomic risk prediction of age-related macular degeneration in Israel
• Visualizing Vitreous Traction by Biomicroscopy versus OCT
• What Can We Learn From the Surprising Insight Into the Genetic Background of Age-Related Macular Degeneration and Central Serous Chorioretinopathy?
• Homozygous Knockout of Cep250 Leads to a Relatively Late-Onset Retinal Degeneration and Sensorineural Hearing Loss in Mice
• Prevalence and associated factors of cystoid macular edema in children with early onset inherited retinal dystrophies
• Translational Read-Through Drugs (TRIDs) Are Able to Restore Protein Expression and Ciliogenesis in Fibroblasts of Patients with Retinitis Pigmentosa Caused by a Premature Termination Codon in FAM161A
• Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes
• Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype-Phenotype Correlation in 228 Patients
• Analysis of the Aqueous Humor Proteome in Patients With Age-Related Macular Degeneration
• Postoperative Macular Proliferative Vitreoretinopathy: A Case Series and Literature Review
• Cell-Based Therapies for Age-Related Macular Degeneration
• Sensing gastric cancer via point-of-care sensor breath analyzer
• KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2
• Full thickness posterior globe perforation managed with laser photocoagulation
• Outcomes of primary rhegmatogenous retinal detachment repair among young adult patients
• SENIOR-LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis
• KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1
• Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations
• A unique PRDM13-associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique CFH variant
• PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT
• TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations
• Longitudinal Clinical Follow-up and Genetic Spectrum of Patients With Rod-Cone Dystrophy Associated With Mutations in PDE6A and PDE6B
• The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies
• Chromatic pupilloperimetry for objective diagnosis of Best vitelliform macular dystrophy
• Mild aniridia phenotype: an under-recognized diagnosis of a severe inherited ocular disease
• The Genetics of Usher Syndrome in the Israeli and Palestinian Populations
• A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans
• Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects
• Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa
• Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
• Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
• Identification of genomic deletions causing inherited retinal degenerations by coverage analysis of whole exome sequencing data
• Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies
• Elschnig's spots in the acute and remission stages in preeclampsia: spectral-domain optical coherence tomographic features
• A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome
• Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss
• Docking interactions of the JNK scaffold protein WDR62
• The tetraplex (CGG)n destabilizing proteins hnRNP A2 and CBF-A enhance the in vivo translation of fragile X premutation mRNA
• Homodimeric MyoD preferentially binds tetraplex structures of regulatory sequences of muscle-specific genes
• Destabilization of tetraplex structures of the fragile X repeat sequence (CGG)n is mediated by homolog-conserved domains in three members of the hnRNP family
• The cationic porphyrin TMPyP4 destabilizes the tetraplex form of the fragile X syndrome expanded sequence d(CGG)n