Ortal Barel

Tel Aviv University — Israel

Immunology and Microbiology · Life Sciences

26h-index2.3kcitations119works2.32yr avg
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Research Topics

Immunodeficiency and Autoimmune Disorders(27), Genomics and Rare Diseases(22), Genetics and Neurodevelopmental Disorders(17), Mitochondrial Function and Pathology(9), Blood disorders and treatments(9)

Publications119 total

Detection of the Heterozygous Recurrent <scp> <i>MAX</i> </scp> p.( <scp>Arg60Gln</scp> ) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome
Clinical Genetics·2025Open Access
β-Actin Deficiency in Baraitser-Winter Syndrome Type 1 Disrupts T-Cell Function and Immune Regulation: Implications for Targeted Therapy in Actinopathies
Journal of Clinical Immunology·2025Open Access
Biallelic MED29 variants cause pontocerebellar hypoplasia with cataracts
European Journal of Human Genetics·2025· 2 citedOpen Access
Genetic, immunological and clinical assessment of isolated chronic recalcitrant dermatophytosis: a prospective study
British Journal of Dermatology·2025· 2 cited
<i>RELA</i> Haploinsufficiency Manifesting as an Atypical Phenotype of Crohn’s Disease
Inflammatory Bowel Diseases·2025
A Case of Pediatric Atypical Pseudoxanthoma Elasticum
International Journal of Dermatology·2025Open Access
A Gain-of -Function SLC4A3 Mutation Causes Short-QT Syndrome
JACC. Clinical electrophysiology·2025· 3 cited
Case Report: Clinical manifestations of uncommon monogenic disorders: revisiting activated phosphoinositide 3-kinase delta syndrome 2
Frontiers in Pediatrics·2025Open Access
PO-05-102 A NOVEL SLC4A3 MUTATION CAUSES SHORT QT SYNDROME: FROM MOLECULAR ANALYSIS TO PHENOTYPIC EXPRESSION AND NOVEL DIAGNOSTIC TESTING
Heart Rhythm·2025
Hereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical Characteristics
European Journal of Neurology·2025· 2 citedOpen Access
A novel mutation in FNIP1 associated with a syndromic immunodeficiency and cardiomyopathy
Immunogenetics·2024· 3 citedOpen Access
T-Lymphoblastic Lymphoma in a Patient with Pearson Syndrome Following Mitochondrial Augmentation
Blood·2024Open Access
Biallelic <scp><i>PIGM</i></scp> Coding Variant Causes Intractable Epilepsy and Intellectual Disability Without Thrombotic Events
Clinical Genetics·2024· 1 citedOpen Access
Investigating Concomitant <i>RAG-2</i> and <i>LRBA</i> Mutations in SCID and Autoimmunity
Clinical & Experimental Immunology·2024· 2 cited
Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns
Journal of Inherited Metabolic Disease·2024Open Access
Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly
Genetics in Medicine·2024· 2 citedOpen Access
Atypical Presentations of Pediatric-acquired Thrombotic Thrombocytopenic Purpura
Journal of Pediatric Hematology/Oncology·2024
A novel RYR1 pathogenic variant − Common among Libyan Jews and associated with a broad phenotypic spectrum
Gene·2024
Mutation Pathogenicity Prediction by a Biology Based Explainable AI Multi-Modal Algorithm
2024· 2 citedOpen Access
The yield of genetic workup for middle-aged and elderly patients with neurological disorders in a real-world setting
Journal of the Neurological Sciences·2024
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Frequent Co-authors

Ben Pode‐Shakked(20), Raz Somech(15), Yair Anikster(15), Gideon Rechavi(14), Atar Lev(13), Anthony Simon(12), Eran Eyal(12), Nitzan Kol(12), Dina Marek‐Yagel(12), Annick Raas‐Rothschild(10), Asaf Vivante(8), Elisheva Javasky(7), Elon Pras(7), Ninette Amariglio(7), Gali Heimer(7), Aviva Eliyahu(7), Iris Barshack(5), Haike Reznik‐Wolf(5), Tali Stauber(5), Lior Greenbaum(5)