Amos J. Simon

Tel Litwinsky, TA, Israel

Last Updated: 09/26/2026

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Found 92 publications

Bone Marrow Failure Syndromes: Clinical and Genetic Characterization in TERT-associated Dyskeratosis Congenita.

Bone Marrow Failure Syndromes: Clinical and Genetic Characterization in TERT-associated Dyskeratosis Congenita.

Journal: The Israel Medical Association journal : IMAJ

Published: August 06, 2026

Clinical and population genetic insights into primary complement component 2 (C2) deficiency: A founder variant in Ashkenazi Jews.

Clinical and population genetic insights into primary complement component 2 (C2) deficiency: A founder variant in Ashkenazi Jews.

Journal: Clinical immunology (Orlando, Fla.)

Published: May 29, 2026

Clinical and population genetic insights into primary complement component 2 (C2) deficiency: A founder variant in Ashkenazi Jews.

Clinical and population genetic insights into primary complement component 2 (C2) deficiency: A founder variant in Ashkenazi Jews.

Journal: Clinical immunology (Orlando, Fla.)

Published: May 29, 2026

Free light chains analysis in cerebrospinal fluid for the diagnosis of multiple sclerosis: A study in the Israeli population.

Free light chains analysis in cerebrospinal fluid for the diagnosis of multiple sclerosis: A study in the Israeli population.

Journal: Journal of neuroimmunology

Published: November 11, 2025

Comprehensive Profiling of T- and B-Cell Receptor Repertoires Demonstrates Impaired Developmental and Activation of Adaptive Immunity in DOCK8 Deficiency.

Comprehensive Profiling of T- and B-Cell Receptor Repertoires Demonstrates Impaired Developmental and Activation of Adaptive Immunity in DOCK8 Deficiency.

Journal: Journal of clinical immunology

Published: July 01, 2025

Missense substitutions in the BTB domain of ZBTB24 can lead to protein instability and cause ICF2 syndrome.

Missense substitutions in the BTB domain of ZBTB24 can lead to protein instability and cause ICF2 syndrome.

Journal: Human molecular genetics

Published: June 25, 2025

β-Actin Deficiency in Baraitser-Winter Syndrome Type 1 Disrupts T-Cell Function and Immune Regulation: Implications for Targeted Therapy in Actinopathies.

β-Actin Deficiency in Baraitser-Winter Syndrome Type 1 Disrupts T-Cell Function and Immune Regulation: Implications for Targeted Therapy in Actinopathies.

Journal: Journal of clinical immunology

Published: March 26, 2025

A homozygote mutation in RPA2 associated with bone marrow failure, immunodeficiency, and telomere biology disorder.

A homozygote mutation in RPA2 associated with bone marrow failure, immunodeficiency, and telomere biology disorder.

Journal: European journal of human genetics : EJHG

Published: February 09, 2025

Inflammatory arthritis as an atypical manifestation of Coffin-Siris syndrome linked to a novel ARID1B variant.

Inflammatory arthritis as an atypical manifestation of Coffin-Siris syndrome linked to a novel ARID1B variant.

Journal: Clinical and experimental rheumatology

Published: February 03, 2025

Case Report: Clinical manifestations of uncommon monogenic disorders: revisiting activated phosphoinositide 3-kinase delta syndrome 2.

Case Report: Clinical manifestations of uncommon monogenic disorders: revisiting activated phosphoinositide 3-kinase delta syndrome 2.

Journal: Frontiers in pediatrics

Published: February 03, 2025

Outcome of hematopoietic stem cell transplantation for severe combined immunodeficiency and impact of newborn screening on overall survival: A single referral center study.

Outcome of hematopoietic stem cell transplantation for severe combined immunodeficiency and impact of newborn screening on overall survival: A single referral center study.

Journal: The Journal of allergy and clinical immunology

Published: November 20, 2024

A novel mutation in FNIP1 associated with a syndromic immunodeficiency and cardiomyopathy.

A novel mutation in FNIP1 associated with a syndromic immunodeficiency and cardiomyopathy.

Journal: Immunogenetics

Published: October 15, 2024

Showing 1-12 of 92

Last Updated: 09/26/2026