Eran Eyal

The Chaim Sheba Med. Ctr
Israel

Last Updated: 09/26/2026

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Found 36 publications

Biallelic PIGM Coding Variant Causes Intractable Epilepsy and Intellectual Disability Without Thrombotic Events.

Biallelic PIGM Coding Variant Causes Intractable Epilepsy and Intellectual Disability Without Thrombotic Events.

Journal: Clinical genetics

Published: August 05, 2024

OffRisk: a docker image for annotating CRISPR off-target sites in the human genome.

OffRisk: a docker image for annotating CRISPR off-target sites in the human genome.

Journal: Bioinformatics advances

Published: June 23, 2023

Correction to: ESR1 mutations are frequent in newly diagnosed metastatic and loco-regional recurrence of endocrine-treated breast cancer and carry worse prognosis.

Correction to: ESR1 mutations are frequent in newly diagnosed metastatic and loco-regional recurrence of endocrine-treated breast cancer and carry worse prognosis.

Journal: Breast cancer research : BCR

Published: March 14, 2020

Whole exome sequencing (WES) approach for diagnosing primary immunodeficiencies (PIDs) in a highly consanguineous community.

Whole exome sequencing (WES) approach for diagnosing primary immunodeficiencies (PIDs) in a highly consanguineous community.

Journal: Clinical immunology (Orlando, Fla.)

Published: October 06, 2019

ESR1 mutations are frequent in newly diagnosed metastatic and loco-regional recurrence of endocrine-treated breast cancer and carry worse prognosis.

ESR1 mutations are frequent in newly diagnosed metastatic and loco-regional recurrence of endocrine-treated breast cancer and carry worse prognosis.

Journal: Breast cancer research : BCR

Published: September 01, 2019

Reduced Function and Diversity of T Cell Repertoire and Distinct Clinical Course in Patients With IL7RA Mutation.

Reduced Function and Diversity of T Cell Repertoire and Distinct Clinical Course in Patients With IL7RA Mutation.

Journal: Frontiers in immunology

Published: April 30, 2019

c.259A>C in the fibrinogen gene of alpha chain (FGA) is a fibrinogen with thrombotic phenotype.

c.259A>C in the fibrinogen gene of alpha chain (FGA) is a fibrinogen with thrombotic phenotype.

Journal: The application of clinical genetics

Published: March 19, 2019

Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy.

Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy.

Journal: American journal of human genetics

Published: December 11, 2017

Somatic NRAS mutation in patient with generalized lymphatic anomaly.

Somatic NRAS mutation in patient with generalized lymphatic anomaly.

Journal: Angiogenesis

Published: September 26, 2017

Whole-genome sequencing reveals principles of brain retrotransposition in neurodevelopmental disorders.

Whole-genome sequencing reveals principles of brain retrotransposition in neurodevelopmental disorders.

Journal: Cell research

Published: July 17, 2017

Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin.

Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavin.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: June 04, 2017

Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type.

Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type.

Journal: Clinical genetics

Published: January 15, 2017

Showing 1-12 of 36

Last Updated: 09/26/2026