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Tamar Harel

Israel

Research Interests

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Professors in Biochemistry

Articles (19)

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2026

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2024

Collaborators (22)

Ype Elgersma

Full professor

Erasmus MC

NETHERLANDS

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Koh-ichi Nagata

Department Head

JAPAN

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Geeske van Woerden

Associate professor

Erasmus University Rotterdam

NETHERLANDS

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Geert Bultynck

Full Professor

KU Leuven

BELGIUM

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Benjamin Delprat

Research Director

INSERM Délégation Régionale Occitanie Méditerranée

FRANCE

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Tadahiro Mitani

Jichi Medical University

JAPAN

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Anna Mª Cueto-González

Médico Consulta Genética Clínica

Hospital Universitari Vall d'Hebron

SPAIN

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Sagiv Shifman

Hebrew University of Jerusalem

ISRAEL

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Stephan Collins

University of Burgundy

FRANCE

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Tzung-Chien Hsieh

University Hospital Bonn

GERMANY

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Ivan Ivanovski

Wissenschaftliche Mitarbeiter

University of Zurich

SWITZERLAND

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Marie-Pierre Bousquet

Institute of Pharmacology and Structural Biology

FRANCE

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Klaus E. Schmitz-Abe

Associate Professor

University of Miami

UNITED STATES

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Shahryar Alavi

University College London

UNITED KINGDOM

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Alexandra Durr

Professor, MD, PhD

Sorbonne Université

FRANCE

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Frederic Laumonnier

Team Leader, Research Director

INSERM

FRANCE

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Elke Krueger

Director

University Medicine Greifswald

GERMANY

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Heba Morsy

University College London

UNITED KINGDOM

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Antonio Vitobello

Full professor

Université de Bourgogne

FRANCE

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Jan Skoda

Associate Professor

Masaryk University

CZECH REPUBLIC

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Sabine Hölter-Koch

Group Leader

Helmholtz Zentrum München Deutsches Forschungszentrum für Umwelt und Gesundheit

GERMANY

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Mai-Lan Ho

Professor and Vice Chair

University of Missouri

UNITED STATES

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Tamar Harel

Research Interests

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Articles (19)

CRISPR knockout screens reveal genes and pathways essential for neuronal differentiation and implicate PEDS1 in neurodevelopment

A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss-of-Function of DMRT2

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

Reconsidering a silent variant: <i>SGCA</i>'s role in atypical cardiomyopathy

A founder variant in TBCB is associated with global developmental delay, autism spectrum, and spastic paraparesis

Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndrome

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Improving mitochondria-associated endoplasmic reticulum membranes integrity as converging therapeutic strategy for rare neurodegenerative diseases and cancer

Allele-specific correction of ATAD3A pathogenic variants via template-free CRISPR-Cas9 editing and gene conversion

Expanding the <i>SIAH1</i>-Associated Phenotypic Spectrum: Insights From Loss-of-Function Variants

Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification

Homozygous Deletion of the Epigenetic Regulator <i>PHF20</i> in Individuals With Neurodevelopmental Disorder

Intronic <i>IGF1R</i> variant causing aberrant splicing, short stature, and neurological impairments

Long-Read Whole-Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly

RNA Analysis Enables Resolution and Reclassification of Reportedly Benign Synonymous Variants

The Quest for a Universal Parkinson's Transcriptomics Signature is Derailed by Inherent Variability between Patients

Transcriptome analysis of <i>atad3-</i>null zebrafish embryos elucidates possible disease mechanisms

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

Collaborators (22)

Ype Elgersma

Koh-ichi Nagata

Geeske van Woerden

Geert Bultynck

Benjamin Delprat

Tadahiro Mitani

Anna Mª Cueto-González

Sagiv Shifman

Stephan Collins

Tzung-Chien Hsieh

Ivan Ivanovski

Marie-Pierre Bousquet

Klaus E. Schmitz-Abe

Shahryar Alavi

Alexandra Durr

Frederic Laumonnier

Elke Krueger

Heba Morsy

Antonio Vitobello

Jan Skoda

Sabine Hölter-Koch

Mai-Lan Ho

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