Lista de obras -

844ins68 in the cystathionine beta-synthase gene in Israel and review of its distribution in the world.

artículo científico publicado en 2004

Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndrome

artículo científico publicado en 2014

Amniotic trisomy 11 mosaicism—is it a benign finding?

article

Association of the low-activity COMT 158Met allele with ADHD and OCD in subjects with velocardiofacial syndrome

artículo científico publicado en 2006

Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase

artículo científico publicado en 2007

BRPF1-associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family

scientific article published on 24 April 2019

Based on a cohort of 52,879 microarrays, recurrent intragenic FBN2 deletion encompassing exons 1-8 does not cause Beals syndrome

scientific article published on 20 July 2020

Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum

artículo científico publicado en 2013

Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood

Branchial cyst, sensorineural deafness, congenital heart defect, and skeletal abnormalities: Branchio-oto-cardio-skeletal (BOCS) syndrome?

artículo científico publicado en 2002

Chromosomal Microarray Analysis (CMA) a Clinical Diagnostic Tool in the Prenatal and Postnatal Settings

artículo científico

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

artículo científico publicado en 2016

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome

artículo científico publicado en 2012

Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting

artículo científico publicado en 2010

Dynamic modification strategy of the Israeli prenatal carrier screening protocol: inclusion of the oriental Jewish group to the cystic fibrosis panel-update

artículo científico publicado en 2009

Expanding the panel of MEFV mutations for routine testing of patients with a clinical diagnosis of familial Mediterranean fever.

artículo científico publicado en 2011

Familial Mediterranean fever—A review ⬇️

artículo científico publicado el 1 de junio de 2011

Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population

artículo científico publicado en 2006

Familial hydrocephalus with normal cognition and distinctive radiological features

article

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

artículo científico publicado en 2008

Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel

artículo científico publicado en 2008

Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel

artículo científico publicado en 2006

Homozygous MED25 mutation implicated in eye-intellectual disability syndrome

artículo científico publicado en 2015

Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations

artículo científico publicado en 2006

Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation

artículo científico publicado en 2004

Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency

artículo científico publicado en 2013

Identification of the gene causing long QT syndrome in an Israeli family

artículo científico publicado en 2008

Impact of homocysteine-lowering vitamin therapy on long-term outcome of patients with coronary artery disease

artículo científico publicado en 2009

Large-scale population carrier screening for spinal muscular atrophy in Israel--effect of ethnicity on the false-negative rate.

artículo científico publicado en 2010

Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia

artículo científico publicado en 2017

Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene

artículo científico publicado en 2006

Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2.

artículo científico publicado en 2013

Microdeletion syndromes disclose replication timing alterations of genes unrelated to the missing DNA.

artículo científico publicado en 2009

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

artículo científico publicado en 2011

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

artículo científico publicado en 2014

Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis

artículo científico publicado en 2006

Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations

artículo científico publicado en 2006

Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease

artículo científico publicado en 2009

Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia

artículo científico publicado en 2015

Myotonic dystrophy--no evidence for preferential transmission of the mutated allele: a prenatal analysis

artículo científico publicado en 2004

New syndrome of simplified gyral pattern, micromelia, dysmorphic features and early death ⬇️

artículo científico publicado el 1 de junio de 2003

Nonvisualization of the Fetal Gallbladder: Can Levels of Gamma-Glutamyl Transpeptidase in Amniotic Fluid Predict Fetal Prognosis?

artículo científico publicado en 2015

Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing

artículo científico publicado en 2013

Nutrigenetic impact of daily folate intake on plasma homocysteine and folate levels in patients with different methylenetetrahydrofolate reductase genotypes

artículo científico publicado en 2010

Personalized prostate cancer screening among men with high risk genetic predisposition- study protocol for a prospective cohort study

artículo científico publicado en 2014

Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3

artículo científico publicado en 2004

Plasma homocysteine, methylenetetrahydrofolate reductase genotypes, and age at onset of symptoms of myocardial ischemia

artículo científico publicado en 2002

Prenatal diagnosis in Li-Fraumeni syndrome

artículo científico publicado en 2004

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study

artículo científico publicado en 2003

Prevalence of breast and colorectal cancer in Ashkenazi Jewish carriers of Fanconi anemia and Bloom syndrome.

artículo científico publicado en 2007

Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population

artículo científico publicado en 1998

RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome

artículo científico publicado en 2009

Referral patterns for microarray testing in prenatal diagnosis

artículo científico publicado en 2012

SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype

artículo científico publicado en 2005

SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system

artículo científico publicado en 2010

Severe combined immunodeficiency (SCID): From the detection of a new mutation to preimplantation genetic diagnosis ⬇️

artículo científico publicado el 22 de abril de 2012

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1

artículo científico publicado en 2020

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families

artículo científico publicado en 2011

Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center

artículo científico publicado en 2020

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

scholarly article

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

artículo científico publicado en 2013

The novel Y371D myocilin mutation causes an aggressive form of juvenile open-angle glaucoma in a Caucasian family from the Middle-East

artículo científico publicado en 2009

The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients

scientific article published on 31 July 2019

The yield of full BRCA1/2 genotyping in Israeli high-risk breast/ovarian cancer patients who do not carry the predominant mutations

artículo científico publicado en 2018

Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1

artículo científico publicado en 2012

UTILIZATION OF WHOLE EXOME SEQUENCING IN DIAGNOSTICS OF GENETIC DISEASE: RABIN MEDICAL CENTER'S EXPERIENCE

artículo científico publicado en 2017

When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations

artículo científico

Lista de obras de

844ins68 in the cystathionine beta-synthase gene in Israel and review of its distribution in the world.

Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndrome

Amniotic trisomy 11 mosaicism—is it a benign finding?

Association of the low-activity COMT 158Met allele with ADHD and OCD in subjects with velocardiofacial syndrome

Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase

BRPF1-associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family

Based on a cohort of 52,879 microarrays, recurrent intragenic FBN2 deletion encompassing exons 1-8 does not cause Beals syndrome

Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum

Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood

Branchial cyst, sensorineural deafness, congenital heart defect, and skeletal abnormalities: Branchio-oto-cardio-skeletal (BOCS) syndrome?

Chromosomal Microarray Analysis (CMA) a Clinical Diagnostic Tool in the Prenatal and Postnatal Settings

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome

Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting

Dynamic modification strategy of the Israeli prenatal carrier screening protocol: inclusion of the oriental Jewish group to the cystic fibrosis panel-update

Expanding the panel of MEFV mutations for routine testing of patients with a clinical diagnosis of familial Mediterranean fever.

Familial Mediterranean fever—A review ⬇️

Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population

Familial hydrocephalus with normal cognition and distinctive radiological features

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

Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel

Genetic screening for autosomal recessive nonsyndromic mental retardation in an isolated population in Israel

Homozygous MED25 mutation implicated in eye-intellectual disability syndrome

Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations

Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation

Identification of a novel mutation in the PNLIP gene in two brothers with congenital pancreatic lipase deficiency

Identification of the gene causing long QT syndrome in an Israeli family

Impact of homocysteine-lowering vitamin therapy on long-term outcome of patients with coronary artery disease

Large-scale population carrier screening for spinal muscular atrophy in Israel--effect of ethnicity on the false-negative rate.

Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia

Low estriol levels in the maternal triple-marker screen as a predictor of isolated adrenocorticotropic hormone deficiency caused by a new mutation in the TPIT gene

Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2.

Microdeletion syndromes disclose replication timing alterations of genes unrelated to the missing DNA.

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis

Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations

Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease

Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia

Myotonic dystrophy--no evidence for preferential transmission of the mutated allele: a prenatal analysis

New syndrome of simplified gyral pattern, micromelia, dysmorphic features and early death ⬇️

Nonvisualization of the Fetal Gallbladder: Can Levels of Gamma-Glutamyl Transpeptidase in Amniotic Fluid Predict Fetal Prognosis?

Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing

Nutrigenetic impact of daily folate intake on plasma homocysteine and folate levels in patients with different methylenetetrahydrofolate reductase genotypes

Personalized prostate cancer screening among men with high risk genetic predisposition- study protocol for a prospective cohort study

Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3

Plasma homocysteine, methylenetetrahydrofolate reductase genotypes, and age at onset of symptoms of myocardial ischemia

Prenatal diagnosis in Li-Fraumeni syndrome

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study

Prevalence of breast and colorectal cancer in Ashkenazi Jewish carriers of Fanconi anemia and Bloom syndrome.

Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population

RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome

Referral patterns for microarray testing in prenatal diagnosis

SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype

SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system

Severe combined immunodeficiency (SCID): From the detection of a new mutation to preimplantation genetic diagnosis ⬇️

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families

Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

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

The novel Y371D myocilin mutation causes an aggressive form of juvenile open-angle glaucoma in a Caucasian family from the Middle-East

The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients

The yield of full BRCA1/2 genotyping in Israeli high-risk breast/ovarian cancer patients who do not carry the predominant mutations

Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1

UTILIZATION OF WHOLE EXOME SEQUENCING IN DIAGNOSTICS OF GENETIC DISEASE: RABIN MEDICAL CENTER'S EXPERIENCE

When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations