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Publications by Ornit Crystal-Shalit

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

PLoS ONE

Multidisciplinary

2012

English

Related publications

Missense Mutation in the USH2A Gene: Association With Recessive Retinitis Pigmentosa Without Hearing Loss

American Journal of Human Genetics

Genetics

2000

English

Whole Exome Sequencing Identified Novel CRB1 Mutations in Chinese and Indian Populations With Autosomal Recessive Retinitis Pigmentosa

Scientific Reports

Multidisciplinary

2016

English

A Novel NR2E3 Gene Mutation in Autosomal Recessive Retinitis Pigmentosa With Cystic Maculopathy

English

Mutation in the Intracellular Chloride Channel CLCC1 Associated With Autosomal Recessive Retinitis Pigmentosa

English

Case Report: Whole Exome Sequencing Reveals a Novel Frameshift Deletion Mutation p.G2254fs in COL7A1 Associated With Autosomal Recessive Dystrophic Epidermolysis Bullosa

English

Mutation Screening of Multiple Genes in Spanish Patients With Autosomal Recessive Retinitis Pigmentosa by Targeted Resequencing

PLoS ONE

Multidisciplinary

2011

English

Alternative Splicing Shapes the Phenotype of a Mutation inBBS8To Cause Nonsyndromic Retinitis Pigmentosa

Molecular and Cellular Biology

Cell Biology

Molecular Biology

2015

English

Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency

Frontiers in Immunology

Allergy

Immunology

2017

English

Exome Sequencing Identifies a Novel Missense Variant in RRM2B Associated With Autosomal Recessive Progressive External Ophthalmoplegia

Genome Biology

2011

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Ornit Crystal-Shalit

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

Related publications

Missense Mutation in the USH2A Gene: Association With Recessive Retinitis Pigmentosa Without Hearing Loss

Whole Exome Sequencing Identified Novel CRB1 Mutations in Chinese and Indian Populations With Autosomal Recessive Retinitis Pigmentosa

A Novel NR2E3 Gene Mutation in Autosomal Recessive Retinitis Pigmentosa With Cystic Maculopathy

Mutation in the Intracellular Chloride Channel CLCC1 Associated With Autosomal Recessive Retinitis Pigmentosa

Case Report: Whole Exome Sequencing Reveals a Novel Frameshift Deletion Mutation p.G2254fs in COL7A1 Associated With Autosomal Recessive Dystrophic Epidermolysis Bullosa

Mutation Screening of Multiple Genes in Spanish Patients With Autosomal Recessive Retinitis Pigmentosa by Targeted Resequencing

Alternative Splicing Shapes the Phenotype of a Mutation inBBS8To Cause Nonsyndromic Retinitis Pigmentosa

Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency

Exome Sequencing Identifies a Novel Missense Variant in RRM2B Associated With Autosomal Recessive Progressive External Ophthalmoplegia