Lista de obras -

A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa.

artículo científico publicado en 2015

A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews

artículo científico publicado en 2007

A complex expression pattern of Pax6 in the pigeon retina

artículo científico publicado en 2007

A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans

artículo científico publicado en 2018

A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode

artículo científico publicado en 2011

A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome

artículo científico publicado en 2014

A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.

artículo científico publicado en 2016

A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews

artículo científico publicado en 2011

A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)

artículo científico publicado en 2019

A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa

scientific article published on 01 June 2007

A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia

artículo científico publicado en 2008

A novel intronic mutation of is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews

artículo científico publicado en 2019

A tapetal-like fundus reflex in a healthy male: evidence against a role in the pathophysiology of retinal degeneration?

artículo científico publicado en 2012

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

artículo científico publicado en 2020

Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium

artículo científico publicado en 2020

Allele frequency analysis of variants reported to cause autosomal dominant inherited retinal diseases question the involvement of 19% of genes and 10% of reported pathogenic variants

scientific article published on 25 March 2019

An Ashkenazi Jewish founder mutation in CACNA1F causes retinal phenotype in both hemizygous males and heterozygous female carriers

scientific article published on 25 October 2019

An ancient autosomal haplotype bearing a rare achromatopsia-causing founder mutation is shared among Arab Muslims and Oriental Jews

artículo científico publicado en 2010

Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa

artículo científico publicado en 2015

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

artículo científico publicado en 2012

Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss

artículo científico publicado en 2016

Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss

artículo científico publicado en 2016

Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD

artículo científico publicado en 2021

Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population

artículo científico publicado en 2018

Chromatic pupilloperimetry for objective diagnosis of Best vitelliform macular dystrophy

artículo científico publicado en 2019

Clinical evaluation of two consanguineous families with homozygous mutations in BEST1

artículo científico publicado en 2011

Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family

artículo científico publicado en 2015

Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype

artículo científico publicado en 2013

Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation

artículo científico publicado en 2019

Enhanced S-cone function with preserved rod function: a new clinical phenotype

artículo científico publicado en 2011

Evaluation of macular structure and function by OCT and electrophysiology in patients with vitelliform macular dystrophy due to mutations in BEST1.

artículo científico publicado en 2010

Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.

artículo científico publicado en 2011

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

artículo científico publicado en 2012

FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies

artículo científico publicado en 2012

Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews

artículo científico publicado en 2008

Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy: data from a national center in Denmark

artículo científico publicado en 2012

Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients.

artículo científico publicado en 2012

Gene Augmentation Therapy Restores Retinal Function and Visual Behavior in a Sheep Model of CNGA3 Achromatopsia

artículo científico publicado en 2015

Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual

artículo científico publicado en 2016

Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.

artículo científico publicado en 2015

Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D.

artículo científico publicado en 2017

Homozygosity for a novel ABCA4 founder splicing mutation is associated with progressive and severe Stargardt-like disease

artículo científico publicado en 2007

Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa

artículo científico publicado en 2010

Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily

artículo científico publicado en 2022

Identification of genomic deletions causing inherited retinal degenerations by coverage analysis of whole exome sequencing data

artículo científico publicado en 2016

Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping

artículo científico publicado en 2014

Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.

artículo científico publicado en 2015

KCNV2-associated Retinopathy: Genetics, Electrophysiology and Clinical Course - KCNV2 Study Group Report 1

scientific article published on 10 December 2020

Lack of association between the C2 allele of transferrin and age-related macular degeneration in the Israeli population

artículo científico publicado en 2009

Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice

artículo científico publicado en 2009

Microarray-based gene expression analysis during retinal maturation of albino rats.

artículo científico publicado en 2008

Molecular anthropology meets genetic medicine to treat blindness in the North African Jewish population: human gene therapy initiated in Israel.

artículo científico publicado en 2010

Mutated alleles of the rod and cone Na-Ca+K-exchanger genes in patients with retinal diseases.

artículo científico publicado en 2002

Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa

artículo científico publicado en 2013

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement

scientific journal article

Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations

scientific article published on 01 March 2013

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.

artículo científico publicado en 2010

Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa

scientific journal article

Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy

scientific journal article

Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).

artículo científico publicado en 2015

Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.

artículo científico publicado en 2015

Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects

artículo científico publicado en 2017

Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations

artículo científico publicado en 2015

Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred

artículo científico publicado en 2016

Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2

artículo científico publicado en 2007

Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes

artículo científico publicado en 2004

Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population

artículo científico publicado en 2010

OR2W3 sequence variants are unlikely to cause inherited retinal diseases

artículo científico publicado en 2016

Ocular phenotype analysis of a family with biallelic mutations in the BEST1 gene.

artículo científico publicado en 2013

Photoreceptor Guanylate Cyclase () Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca-Dependent Cyclic GMP Synthesis

scholarly article by Hanna Wimberg published in January 2018

Profile of the genes expressed in the human peripheral retina, macula, and retinal pigment epithelium determined through serial analysis of gene expression (SAGE).

artículo científico publicado en 2001

RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa

artículo científico publicado en 2003

Recognizing the KCNV2-related retinal phenotype. Author reply

artículo científico publicado en 2013

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

scientific article published on 20 April 2020

Retinal structure in young patients aged 10 years or less with Best vitelliform macular dystrophy

artículo científico publicado en 2015

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.

artículo científico publicado en 2002

Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration

artículo científico publicado en 2003

TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations

scientific article published on 19 August 2019

The Genetics of Usher Syndrome in the Israeli and Palestinian Populations

artículo científico publicado en 2018

The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies

artículo científico publicado en 2019

The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic.

scientific article published on 05 December 2012

The spectrum of retinal diseases caused by NR2E3 mutations in Israeli and Palestinian patients

artículo científico publicado en 2009

Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations

scientific article published on 16 September 2020

Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children

artículo científico publicado en 2020

Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array

artículo científico publicado en 2010

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders

scientific article published on 28 March 2019

Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies

artículo científico publicado en 2015

Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel

artículo científico publicado en 2014

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

artículo científico publicado en 2013

Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.

artículo científico publicado en 2017

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

artículo científico publicado en 2012

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness

artículo científico publicado en 2012

Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa

artículo científico publicado en 2017

Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases

scientific article published on 21 January 2020

[THE ISRAELI INHERITED RETINAL DISEASES CONSORTIUM (IIRDC)- CLINICAL-GENETIC MAPPING AND FUTURE PERSPECTIVES]

artículo científico publicado en 2019

Lista de obras de

A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa.

A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews

A complex expression pattern of Pax6 in the pigeon retina

A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans

A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode

A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome

A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.

A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews

A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)

A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa

A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia

A novel intronic mutation of is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews

A tapetal-like fundus reflex in a healthy male: evidence against a role in the pathophysiology of retinal degeneration?

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

Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium

Allele frequency analysis of variants reported to cause autosomal dominant inherited retinal diseases question the involvement of 19% of genes and 10% of reported pathogenic variants

An Ashkenazi Jewish founder mutation in CACNA1F causes retinal phenotype in both hemizygous males and heterozygous female carriers

An ancient autosomal haplotype bearing a rare achromatopsia-causing founder mutation is shared among Arab Muslims and Oriental Jews

Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

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

Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD

Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population

Chromatic pupilloperimetry for objective diagnosis of Best vitelliform macular dystrophy

Clinical evaluation of two consanguineous families with homozygous mutations in BEST1

Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family

Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype

Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation

Enhanced S-cone function with preserved rod function: a new clinical phenotype

Evaluation of macular structure and function by OCT and electrophysiology in patients with vitelliform macular dystrophy due to mutations in BEST1.

Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.

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

FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies

Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews

Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy: data from a national center in Denmark

Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients.

Gene Augmentation Therapy Restores Retinal Function and Visual Behavior in a Sheep Model of CNGA3 Achromatopsia

Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual

Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.

Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D.

Homozygosity for a novel ABCA4 founder splicing mutation is associated with progressive and severe Stargardt-like disease

Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa

Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily

Identification of genomic deletions causing inherited retinal degenerations by coverage analysis of whole exome sequencing data

Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping

Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.

KCNV2-associated Retinopathy: Genetics, Electrophysiology and Clinical Course - KCNV2 Study Group Report 1

Lack of association between the C2 allele of transferrin and age-related macular degeneration in the Israeli population

Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice

Microarray-based gene expression analysis during retinal maturation of albino rats.

Molecular anthropology meets genetic medicine to treat blindness in the North African Jewish population: human gene therapy initiated in Israel.

Mutated alleles of the rod and cone Na-Ca+K-exchanger genes in patients with retinal diseases.

Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement

Mutations in CRB1 are a relatively common cause of autosomal recessive early-onset retinal degeneration in the Israeli and Palestinian populations

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.

Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa

Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy

Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).

Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.

Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects

Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations

Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred

Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2

Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes

Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population

OR2W3 sequence variants are unlikely to cause inherited retinal diseases

Ocular phenotype analysis of a family with biallelic mutations in the BEST1 gene.

Photoreceptor Guanylate Cyclase () Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca-Dependent Cyclic GMP Synthesis

Profile of the genes expressed in the human peripheral retina, macula, and retinal pigment epithelium determined through serial analysis of gene expression (SAGE).

RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa

Recognizing the KCNV2-related retinal phenotype. Author reply

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Retinal structure in young patients aged 10 years or less with Best vitelliform macular dystrophy

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns.

Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration

TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations

The Genetics of Usher Syndrome in the Israeli and Palestinian Populations