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Тамар Харэль

Отделение: Генетика
Должность: Генетик
Языки: Английский, Иврит
Принимает: детей и взрослых
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Профессор Тамар Харэль - заведующая отделением генетики.

Научные публикации

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
A deleterious variant of INTS1 leads to disrupted sleep-wake cycles
Low prevalence of SCA27B in adult-onset cerebellar ataxia cohort of Jewish ancestry
Genetics of bilateral pediatric cataract in the Israeli and Palestinian populations
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features
Development and validation of the relational behavior interactions scale for couples
A neurodevelopmental disorder associated with a loss-of-function missense mutation in RAB35
Exploring the factors affecting classification and reporting of uncertain prenatal microarray findings, using a "virtual fetus" model-a pilot study
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield
USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms
Complex rearrangement in TBC1D4 in an individual with diabetes due to severe insulin resistance syndrome
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews
New onset or relapsing neuromyelitis optica temporally associated with SARS-CoV-2 infection and COVID-19 vaccination: a systematic review
Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome
Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation
Homozygous 22q11.2 distal type II microdeletion is associated with syndromic neurodevelopmental delay
Explanations for the discrepancy between variant frequency and homozygous disease occurrence: Lessons from Ashkenazi Jewish data
A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay
Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure
Rare disease informs mechanism and possible treatment of statin-associated myopathy
Helping Others Results in Helping Yourself: How Well-Being Is Shaped by Agreeableness and Perceived Team Cohesion
Discovery of a new hereditary RECQ helicase disorder RECON syndrome positions the replication stress response and genome homeostasis as centrally important processes in aging and age-related disease
Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder
I hate you when I am anxious: Anxiety during the COVID-19 epidemic and ideological hostility
Exome sequencing for structurally normal fetuses-yields and ethical issues
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome
Relationship Expectations, Behavior Interactions and Commitment: A Dyadic Study Among Dual-Earner Couples
Orbital nodular fasciitis in child with biallelic germline RBL2 variant
De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila
CRISPR/Cas9-induced gene conversion between ATAD3 paralogs
Centers for Mendelian Genomics: A decade of facilitating gene discovery
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity
RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1
Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity
Levodopa-responsive dystonia caused by biallelic PRKN exon inversion invisible to exome sequencing
Dissection of floral transition by single-meristem transcriptomes at high temporal resolution
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes
Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder
Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay
Response to Hall et al
Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child
De novo variant in AMOTL1 in infant with cleft lip and palate, imperforate anus and dysmorphic features
Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease
NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis
Major Impacts of Widespread Structural Variation on Gene Expression and Crop Improvement in Tomato
De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features
Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies
Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome
Grandparental genotyping enhances exome variant interpretation
Knowledge of disease and self-management of adolescents with inflammatory bowel diseases
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism
Homozygous variants in MAPRE2 and CDON in individual with skin folds, growth delay, retinal coloboma, and pyloric stenosis
Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features
Predicting Phenotypic Diversity from Molecular and Genetic Data
Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy
Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy
Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay
Ulcers and Scars on the Trunk of a 20-month-old Boy: A Quiz
Insights into genetics, human biology and disease gleaned from family based genomic studies
Personalized Hydrogels for Engineering Diverse Fully Autologous Tissue Implants
Testing the Efficacy of a Smartphone Application in Improving Medication Adherence, Among Children with ADHD
Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis
Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination
Fetal exome sequencing: yield and limitations in a tertiary referral center
Phenotypic expansion illuminates multilocus pathogenic variation
Comprehensive genomic analysis of patients with disorders of cerebral cortical development
MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease
The interaction between neurocognitive functioning, subthreshold psychotic symptoms and pharmacotherapy in 22q11.2 deletion syndrome: A longitudinal comparative study
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder
Genomic disorders 20 years on-mechanisms for clinical manifestations
Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially
Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly
22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease
Lessons learned from additional research analyses of unsolved clinical exome cases
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes
Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans
Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy
ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size
Factors Associated with Breast Milk Feeding of Very Preterm Infants from Birth to 6 Months Corrected Age
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin
POGZ truncating alleles cause syndromic intellectual disability
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
Can we predict the need for pharmacological treatment according to demographic and clinical characteristics in gestational diabetes?
The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy
Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant
Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases
Charcot-Marie-Tooth disease and pathways to molecular based therapies
Perception of suprasegmental speech features via bimodal stimulation: cochlear implant on one ear and hearing aid on the other
Listening preference for the native language compared to an unfamiliar language in hearing and hearing-impaired infants after cochlear implantation
Stability, visibility, and histologic analysis of a new implanted fiducial for use as a kilovoltage radiographic or radioactive marker for patient positioning and monitoring in radiotherapy
The tetrazole 3-N-oxide synthesis
Synthesis of oxygenated fused oligothiophenes with HOF.CH(3)CN
Transforming natural amino acids into alpha-alkyl-substituted amino acids with the help of the HOF.CH3CN complex
Co-morbidity of Emery-Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred
Enhancing the drug metabolism activities of C3A--a human hepatocyte cell line--by tissue engineering within alginate scaffolds
Efficient synthesis of episulfones and of SO2 with any variation of oxygen isotopes using HOF.CH3CN
COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED)
Mitochondrial metabolism reveals a functional architecture in intact islets of Langerhans from normal and diabetic Psammomys obesus
CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds
Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation
A comparison of psychiatrists' clinical-impression-based and social workers' computer-generated GAF scores
System response of the sinoatrial node during vagal stimulation
High-resolution estimation of the heart rate variability signal
Altered heart rate variability in panic disorder patients
Increased sympathetic and decreased parasympathetic cardiac innervation in patients with Alzheimer's disease
The role of calcium in leukotriene production: immune response induces cardiac myolysis
The relevance of ideas and beliefs to immigration as it is seen from a theory of personality point of view
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