List of works - Mordechai Shohat

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

scientific article published in June 2004

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

scientific article published on 30 April 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

scientific article published on 31 May 2006

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

scientific article published on 23 January 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

scientific article

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?

scientific article published on November 2002

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

scientific article published on September 2015

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.

scientific article published on 7 September 2016

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

scientific article

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

scientific article published in December 2010

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

scientific article published in May 2009

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

scientific article published on April 2011

Familial Mediterranean fever—A review ⬇️

scientific article published on June 1, 2011

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

scholarly article

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

scientific article

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

scientific article

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

scientific article published on 6 December 2006

Homozygous MED25 mutation implicated in eye-intellectual disability syndrome

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 01 November 2008

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

scientific article published in September 2009

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

scientific article

Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia

scientific article published on 06 March 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

scientific article published on 3 January 2006

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

scientific article published on 29 September 2013

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

scientific article published on 14 March 2009

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

scientific article

Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

scientific article

Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis

scientific article

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

scientific article

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

scientific article

Mutations in TAX1BP3 cause dilated cardiomyopathy with septo-optic dysplasia

scientific article published on 16 March 2015

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

scientific article published in May 2004

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

scientific article published on June 1, 2003

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

scientific article published on 3 June 2015

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

scientific article

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

scientific article published in December 2010

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

scientific article

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

scientific article

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

scientific article

Prenatal diagnosis in Li-Fraumeni syndrome

scientific article published on 01 September 2004

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

scientific article

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

scientific article

Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population

scientific article published on 01 January 1998

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

scientific article published on 23 July 2009

Referral patterns for microarray testing in prenatal diagnosis

scientific article

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

scientific article

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

scientific article

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

scientific article published on April 22, 2012

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

scientific article published on 24 August 2020

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

scientific article

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

scientific article published on 03 July 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

scientific article published on 24 December 2013

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

scientific article published on 24 September 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

scientific article published on 16 July 2018

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

scientific article

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

scientific article published on 20 July 2017

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

scientific article published in April 2017

List of works by Mordechai Shohat

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

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

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