T. Ben‐Yosef

发表

A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family

H. Garzozi, A. Abbasi, T. Ben‐Yosef, 2008, Molecular vision.

Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient.

D. Behar, T. Ben‐Yosef, L. Benayoun, 2007, Molecular genetics and metabolism.

Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations.

J. Schacht, D. S. Pilch, V. Belakhov, 2009, Journal of medicinal chemistry.

Double gene deletion reveals lack of cooperation between claudin 11 and claudin 14 tight junction proteins

Z. Abassi, T. Ben‐Yosef, A. Gow, 2008, Cell and Tissue Research.

Recent Advances in the Understanding of Syndromic Forms of Hearing Loss

S. Riazuddin, Z. Ahmed, A. Griffith, 2003, Ear and hearing.

Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1

S. Shalev, T. Ben‐Yosef, Z. Ben‐Neriah, 2011, Molecular vision.

Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans

J. Zlotogora, T. Ben‐Yosef, M. Nevet, 2010, Journal of Medical Genetics.

Spatiotemporal expression pattern of ceramide kinase-like in the mouse retina

T. Ben‐Yosef, Sharon Vekslin, 2010, Molecular vision.

Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: The pitfalls of homozygosity mapping

R. Spiegel, H. Garzozi, A. Abbasi, 2009, American journal of medical genetics. Part A.

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

D. Sharon, E. Banin, H. Garzozi, 2007, Investigative ophthalmology & visual science.

Characterization of murine BCAT genes: Bcat1, a c-Myc target, and its homolog, Bcat2

N. Benvenisty, T. Ben‐Yosef, A. Eden, 1998, Mammalian Genome.

Hereditary Cancer and Developmental Abnormalities

N. Benvenisty, T. Ben‐Yosef, 1999, Neonatology.

Autosomal-Recessive Retinitis Pigmentosa

B. J. Klevering, S. Shalev, H. Garzozi, 2010 .

Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa.

B. J. Klevering, A. D. den Hollander, F. Cremers, 2010, American journal of human genetics.

Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects

T. Ben‐Yosef, Yasmin Tatour, 2020, Diagnostics.

PRCD is Concentrated at the Base of Photoreceptor Outer Segments and is Involved in Outer Segment Disc Formation.

I. Perlman, U. Wolfrum, E. Sehn, 2019, Human molecular genetics.

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

D. Sharon, M. McKibbin, C. Inglehearn, 2015, JAMA ophthalmology.

TULP1 and TUB Are Required for Specific Localization of PRCD to Photoreceptor Outer Segments

T. Ben‐Yosef, Leah Rizel, M. Nevet, 2020, International journal of molecular sciences.

Functions of claudin tight junction proteins and their complex interactions in various physiological systems.

T. Ben‐Yosef, Liron Elkouby-Naor, 2010, International review of cell and molecular biology.

ECA 39 , a conserved gene regulated by c-Myc in mice , is involved in G 1 / S cell cycle regulation in yeast ( genetic target / Saccharomyces cerevisiae )

O. Yanuka, G. Simchen, O. Schuldiner, 2005 .

CaV1.3 L-type calcium channels modulate depression-like behavior in mice independent of deaf phenotype

N. Tanimoto, M. Seeliger, N. Singewald, 2009, The international journal of neuropsychopharmacology.

An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy

I. Perlman, T. Ben‐Yosef, Leah Rizel, 2015, Molecular vision.

Evidence for a founder mutation causing DFNA5 hearing loss in East Asians

A. Griffith, U. Kim, T. Ben‐Yosef, 2010, Journal of Human Genetics.

Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.

L. Vissers, A. Hoischen, I. Fajardy, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

ECA39 is regulated by c-Myc in human and by a Jun/Fos homolog, Gcn4, in yeast.

O. Yanuka, N. Benvenisty, T. Ben‐Yosef, 1996, Oncogene.

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

A. Hoischen, C. Rivolta, P. Farinelli, 2022, Frontiers in Cell and Developmental Biology.

Ceramide kinase-like (CERKL) interacts with neuronal calcium sensor proteins in the retina in a cation-dependent manner.

A. Dizhoor, E. Olshevskaya, R. Tidhar, 2012, Investigative ophthalmology & visual science.

Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability

H. Hakonarson, C. Ayuso, M. López-Molina, 2017, Journal of Medical Genetics.

Spectrum of PEX1 and PEX6 variants in Heimler syndrome

W. Newman, S. Price, C. Inglehearn, 2016, European Journal of Human Genetics.

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

N. Shomron, A. D. den Hollander, D. Sharon, 2015, Human molecular genetics.

Redesign of aminoglycosides for treatment of human genetic diseases caused by premature stop mutations.

T. Baasov, Igor Nudelman, T. Ben‐Yosef, 2006, Bioorganic & medicinal chemistry letters.

In vitro and ex vivo suppression by aminoglycosides of PCDH15 nonsense mutations underlying type 1 Usher syndrome

Z. Ahmed, T. Baasov, Igor Nudelman, 2007, Human Genetics.

Beneficial read-through of a USH1C nonsense mutation by designed aminoglycoside NB30 in the retina.

U. Wolfrum, N. Overlack, T. Goldmann, 2010, Investigative ophthalmology & visual science.

The R245X Mutation of PCDH15 in Ashkenazi Jewish Children Diagnosed with Nonsyndromic Hearing Loss Foreshadows Retinitis Pigmentosa

M. Hildesheimer, T. Friedman, K. Avraham, 2004, Pediatric Research.

A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.

Karen B Avraham, Harry Ostrer, Carole Oddoux, 2003, The New England journal of medicine.

The Genetics of Usher Syndrome in the Israeli and Palestinian Populations.

I. Chowers, D. Sharon, I. Lerer, 2018, Investigative Ophthalmology and Visual Science.

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

D. Sharon, Samer Khateb, E. Banin, 2012, PloS one.

The genetic bases for syndromic and nonsyndromic deafness among Jews.

T. Friedman, T. Ben‐Yosef, 2003, Trends in molecular medicine.

Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration.

Yehoash Raphael, Andrew Forge, Sally A Camper, 2003, Human molecular genetics.

Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

A. Hoischen, C. Klaver, D. Sharon, 2019, bioRxiv.

The many faces of sensorineural hearing loss: one founder and two novel mutations affecting one family of mixed Jewish ancestry.

D. Behar, K. Avraham, M. Shohat, 2014, Genetic testing and molecular biomarkers.

A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy

S. Shalev, T. Ben‐Yosef, D. Briscoe, 2012, Molecular vision.

Human Mutation

I. Perlman, N. Shomron, D. Sharon, 2019 .

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

A. Cideciyan, S. Schwartz, S. Jacobson, 2011, American journal of human genetics.

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

I. Chowers, Dikla Bandah-Rozenfeld, D. Sharon, 2010, American journal of human genetics.

Early onset non-syndromic retinal degeneration due to variants in INPP5E: phenotypic expansion of the ciliary gene previously associated with Joubert syndrome

A. Fulton, D. Sharon, C. Rivolta, 2020, medRxiv.

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

A. Fulton, D. Sharon, C. Rivolta, 2021, NPJ genomic medicine.

Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases

F. Cremers, C. Gilissen, C. Hoyng, 2021, npj Genomic Medicine.

A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews

I. Chowers, N. Shomron, D. Sharon, 2019, Molecular vision.

Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes.

S. Blumen, I. Braverman, M. Khayat, 2017, Genetic testing and molecular biomarkers.

Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced S-Cone Syndrome.

I. Perlman, S. Blumen, I. Braverman, 2016, Investigative ophthalmology & visual science.

Mutations in the Gene Encoding Tight Junction Claudin-14 Cause Autosomal Recessive Deafness DFNB29

S. Riazuddin, S. Riazuddin, A. Griffith, 2001, Cell.

The progressive rod-cone degeneration (PRCD) protein is secreted through the conventional ER/Golgi-dependent pathway.

S. Kohl, D. Zobor, T. Ben‐Yosef, 2014, Experimental eye research.

ECA39, a conserved gene regulated by c-Myc in mice, is involved in G1/S cell cycle regulation in yeast.

O. Yanuka, N. Benvenisty, O. Schuldiner, 1996, Proceedings of the National Academy of Sciences of the United States of America.

Late diagnosis of Alstrom syndrome in a Yemenite-Jewish child

T. Ben‐Yosef, M. Ehrenberg, N. Goldenberg-Cohen, 2019, Ophthalmic genetics.

Retina Homozygosity for a Recessive Loss-of-Function Mutation of the NRL Gene Is Associated With a Variant of Enhanced SCone Syndrome

I. Perlman, S. Blumen, I. Braverman, 2016 .

Characterization of the human talin (TLN) gene: genomic structure, chromosomal localization, and expression pattern.

C. Francomano, T. Ben‐Yosef, C. Francomano, 1999, Genomics.

The co-occurrence of rare non-ocular phenotypes in patients with inherited retinal degenerations

N. Orenstein, T. Ben‐Yosef, M. Ehrenberg, 2019, Molecular vision.

Inherited Retinal Diseases

T. Ben‐Yosef, 2022, International journal of molecular sciences.

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

T. Dierks, D. Sharon, C. Rivolta, 2018, Genetics in Medicine.

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

A. Swaroop, D. Sharon, R. Ratnapriya, 2016, American journal of human genetics.

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

T. Dierks, D. Sharon, C. Rivolta, 2018, Genetics in Medicine.

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

I. Chowers, D. Sharon, F. Cremers, 2020, Scientific Reports.

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

I. Perlman, N. Shomron, D. Sharon, 2020, Human mutation.

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

S. Jacobson, D. Sharon, Z. Guan, 2017, Ophthalmology.

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

D. Sharon, S. Lieberman, Samer Khateb, 2016, Journal of Medical Genetics.

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

I. Chowers, S. Jacobson, A. Swaroop, 2015, Scientific Reports.

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

I. Chowers, T. Strom, A. D. den Hollander, 2010, Investigative ophthalmology & visual science.

Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes

I. Chowers, D. Sharon, B. Wissinger, 2022, Molecular vision.

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

L. Vissers, I. Fajardy, D. Sharon, 2023, HGG advances.

Involvement of Myc targets in c-myc and N-myc induced human tumors

O. Yanuka, N. Benvenisty, T. Ben‐Yosef, 1998, Oncogene.

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

D. Sharon, E. Pras, E. Banin, 2018, European Journal of Human Genetics.

Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness

A. Pandya, S. Antonarakis, J. Kudoh, 2001, Journal of medical genetics.

Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase.

S. Shalev, T. Ben‐Yosef, Liron Dvir, 2010, American journal of human genetics.

Autosomal dominant retinitis pigmentosa with incomplete penetrance due to an intronic mutation of the PRPF31 gene

D. Sharon, E. Banin, S. Zayit-Soudry, 2022, Molecular vision.

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

D. Behar, D. Sharon, M. Shohat, 2008, Genetic testing.

Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III

R. Desnick, A. Griffith, T. Friedman, 2003, Journal of medical genetics.

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

A. Swaroop, D. Sharon, R. Ratnapriya, 2016, American journal of human genetics.

Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype–Phenotype Correlation in 228 Patients

A. Swaroop, D. Sharon, F. Cremers, 2021, Frontiers in Cell and Developmental Biology.

A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma

F. Cremers, N. Waheed, K. Neveling, 2014, Journal of Medical Genetics.

Genetic heterogeneity and consanguinity lead to a “double hit”: Homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa

Y. Rotenstreich, L. Basel‐Vanagaite, E. Banin, 2013, Molecular vision.

Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.

A. J. Roman, T. Aleman, A. Cideciyan, 2008, Investigative ophthalmology & visual science.

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

D. Sharon, E. Pras, E. Banin, 2018, European Journal of Human Genetics.

Retinal dystrophy as part of TTC21B-associated ciliopathy

T. Ben‐Yosef, M. Ehrenberg, Nurit Asia Batsir, 2021, Ophthalmic genetics.

Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression

D. Sharon, C. Rivolta, E. Banin, 2018, Molecular vision.

Danon Disease: Entire LAMP2 Gene Deletion with Unusual Clinical Presentation—Case Report and Review of the Literature

T. Ben‐Yosef, A. Shalata, A. Lorber, 2023, Genes.

Homozygous deletion of TRMT10A as part of a contiguous gene deletion in a syndrome of failure to thrive, delayed puberty, intellectual disability and diabetes mellitus

T. Ben‐Yosef, A. Zung, E. Granot, 2015, American journal of medical genetics. Part A.

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

A. Hoischen, C. Klaver, D. Sharon, 2020, Genetics in Medicine.

Functions of claudin tight junction proteins and their complex interactions in various physiological systems.

T. Ben‐Yosef, Liron Elkouby-Naor, 2010, International review of cell and molecular biology.

Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression

D. Sharon, C. Rivolta, E. Banin, 2021, Molecular vision.

The Genetics of Usher Syndrome in the Israeli and Palestinian Populations.

I. Chowers, D. Sharon, I. Lerer, 2018, Investigative ophthalmology & visual science.

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

I. Chowers, Dikla Bandah-Rozenfeld, D. Sharon, 2010, Investigative ophthalmology & visual science.

Male Sterility and Reduced Female Fertility in SCAPER-Deficient Mice.

T. Ben‐Yosef, R. Shalgi, Hadas Bar-Joseph, 2020, Human molecular genetics.

Genetic and Clinical Analyses of the KIZ-c.226C>T Variant Resulting in a Dual Mutational Mechanism

D. Sharon, M. Ross, Samer Khateb, 2024, Genes.