List of works - Tamar Harel

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

scientific article published on 07 December 2016

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

scientific journal article

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

scientific article

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

scientific article published on November 2015

Lessons learned from additional research analyses of unsolved clinical exome cases

scientific article published on 21 March 2017

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

scientific article published on 07 September 2016

Phenotypic expansion illuminates multilocus pathogenic variation.

scientific article

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

scientific article published on 11 January 2016

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

scientific article published on March 3, 2016

POGZ truncating alleles cause syndromic intellectual disability.

scientific article

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

scientific article published on 24 July 2017

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome

scientific article

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

scientific article published on 31 August 2016

Genomic disorders 20 years on-mechanisms for clinical manifestations

scientific article

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

scientific article published in November 2017

The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy

scientific article

Insights into genetics, human biology and disease gleaned from family based genomic studies

scientific article published on 18 January 2019

Insights into genetics, human biology and disease gleaned from family based genomic studies

article

Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly.

scientific article published on 7 July 2017

Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination

scientific article published on 24 July 2018

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.

scientific article

Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis

scientific article published on April 17, 2015

22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease

scientific article published in April 2017

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

scientific article published on 30 April 2018

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

article

Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.

scientific article published on 7 July 2016

Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay

scientific article published on 11 April 2019

Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features

scientific article published on 02 August 2019

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

scientific article published on 30 January 2020

Homozygous variants in MAPRE2 and CDON in individual with skin folds, growth delay, retinal coloboma, and pyloric stenosis

scientific article published on 09 September 2019

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

scientific article published in January 2018

Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child

scientific article published on 22 November 2020

De novo variant in AMOTL1 in infant with cleft lip and palate, imperforate anus and dysmorphic features

scientific article published on 07 October 2020

Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay

scientific article published on 07 January 2021

Grandparental genotyping enhances exome variant interpretation

scientific article published on 06 February 2020

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene<i>PSMC5</i>in neurodevelopmental proteasomopathies

scientific article published on 16 January 2024

Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome

scientific article published on 03 March 2020

Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

scientific article published on 01 October 2020

De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features

scientific article published on 19 May 2020

<i>USP27X</i>variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

scientific article published in 2024

List of works by Tamar Harel

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

Lessons learned from additional research analyses of unsolved clinical exome cases

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

Phenotypic expansion illuminates multilocus pathogenic variation.

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

POGZ truncating alleles cause syndromic intellectual disability.

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.

Genomic disorders 20 years on-mechanisms for clinical manifestations

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy

Insights into genetics, human biology and disease gleaned from family based genomic studies

Insights into genetics, human biology and disease gleaned from family based genomic studies

Homozygous null variant in CRADD, encoding an adaptor protein that mediates apoptosis, is associated with lissencephaly.

Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination

Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.

Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis

22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

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

Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.

Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay

Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features

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

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

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

Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay

Grandparental genotyping enhances exome variant interpretation

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene<i>PSMC5</i>in neurodevelopmental proteasomopathies

Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome

Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease

De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features

<i>USP27X</i>variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms