Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Genome-wide profiling of highly similar paralogous genes using HiFi sequencing.
Chen X et al.
Nature Communications, 2025
Reliable genetic diagnosis of NCF1 (p47phox)-deficient chronic granulomatous disease using high-throughput sequencing.
Hsu AP et al.
Frontiers in Immunology, 2025
Genotype-phenotype correlations in chronic granulomatous disease: insights from a large national cohort.
Wolach B et al.
Blood, 2024
Donor Cell Acute Myeloid Leukemia after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease: A Case Report and Literature Review.
Micheloni G et al.
Genes, 2023
Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening.
Avnat E et al.
Genes, 2023
Genetic Causes, Clinical Features, and Survival of Underlying Inborn Errors of Immunity in Omani Patients: a Single-Center Study.
Al-Tamemi S et al.
Journal of Clinical Immunology, 2023
Chronic granulomatous disease in the United Arab Emirates: clinical and molecular characteristics in a single center.
Al Kuwaiti AA et al.
Frontiers in Immunology, 2023
Clinical and Immunological Characteristics of 63 Patients with Chronic Granulomatous Disease: Hacettepe Experience.
Akar HT et al.
Journal of Clinical Immunology, 2021
Second Report of Chronic Granulomatous Disease in Jordan: Clinical and Genetic Description of 31 Patients From 21 Different Families, Including Families From Lybia and Iraq.
Bakri FG et al.
Frontiers in Immunology, 2021
Late diagnosis of chronic granulomatous disease.
Barkai T et al.
Clinical and Experimental Immunology, 2020
2020 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
NCF1 (p47phox)-deficient chronic granulomatous disease: comprehensive genetic and flow cytometric analysis.
Kuhns DB et al.
Blood Advances, 2019
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
Correlation between flow cytometry and molecular findings in autosomal recessive chronic granulomatous disease: A cohort study from Oman.
Al-Riyami AZ et al.
International Journal of Laboratory Hematology, 2018
Clinical and Genomic Correlates of Neutrophil Reactive Oxygen Species Production in Pediatric Patients With Crohn's Disease.
Denson LA et al.
Gastroenterology, 2018
A false-carrier state for the c.579G>A mutation in the NCF1 gene in Ashkenazi Jews.
De Boer M et al.
Journal of Medical Genetics, 2018
Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Heterogeneity in Patients with the Same NCF1 mutation (c.579G>A).
Wolach B et al.
Journal of Clinical Immunology, 2018
A Founder Effect of c.257 + 2T > C Mutation in NCF2 Gene Underlies Severe Chronic Granulomatous Disease in Eleven Patients.
Ben-Farhat K et al.
Journal of Clinical Immunology, 2016
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
A founder effect for p47(phox)Trp193Ter chronic granulomatous disease in Kavkazi Jews.
de Boer M et al.
Blood Cells, Molecules & Diseases, 2015
Clinical application of whole-genome sequencing in patients with primary immunodeficiency.
Mousallem T et al.
The Journal of Allergy and Clinical Immunology, 2015
Clinical and molecular findings of chronic granulomatous disease in Oman: family studies.
Al-Zadjali S et al.
Clinical Genetics, 2015
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).
Roos D et al.
Blood Cells, Molecules & Diseases, 2010
Therapeutic strategy in p47-phox deficient chronic granulomatous disease presenting as inflammatory bowel disease.
Freudenberg F et al.
The Journal of Allergy and Clinical Immunology, 2010
Mutations of chronic granulomatous disease in Turkish families.
Köker MY et al.
European Journal of Clinical Investigation, 2007
Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidase.
Roos D et al.
Human Mutation, 2006
Screening for genetic disorders among Jews: how should the Tay-Sachs screening program be continued?
Zlotogora J et al.
The Israel Medical Association Journal : Imaj, 2000