Avraham Shaag
Jerusalem, JM, Israel
Last Updated: 09/26/2026
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Found 76 publications
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.
Journal: Clinical immunology (Orlando, Fla.)
Published: May 29, 2026
Long-Read Whole-Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly.
Journal: American journal of medical genetics. Part A
Published: April 21, 2025
Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotype.
Journal: Human genomics
Published: November 01, 2024
Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns.
Journal: Journal of inherited metabolic disease
Published: April 12, 2024
Prenatal diagnosis of lanosterol synthase deficiency: Fetal ultrasound findings as a window on family genetics.
Journal: European journal of medical genetics
Published: June 15, 2023
PNC2 (SLC25A36) Deficiency Associated With the Hyperinsulinism/Hyperammonemia Syndrome.
Journal: The Journal of clinical endocrinology and metabolism
Published: August 12, 2021
The many etiologies of nonimmune hydrops fetalis diagnosed by exome sequencing.
Journal: Prenatal diagnosis
Published: February 28, 2021
A mutation in POLR3E impairs antiviral immune response and RNA polymerase III.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: August 27, 2020
The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
Journal: Journal of inherited metabolic disease
Published: August 22, 2020
Bacillus Calmette-Guerin (BCG) Vaccine-associated Complications in Immunodeficient Patients Following Stem Cell Transplantation.
Journal: Journal of clinical immunology
Published: June 25, 2020
Full genome viral sequences inform patterns of SARS-CoV-2 spread into and within Israel.
Journal: Nature communications
Published: June 12, 2020
Last Updated: 09/26/2026