Associated Papers
Arab founder variants: Contributions to clinical genomics and precision medicine.
AlAbdi L et al.
Med (new York, N.y.), 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.
Raidt J et al.
The European Respiratory Journal, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Clinical and Genetic Characterization of Patients with Primary Ciliary Dyskinesia in Southwest Saudi Arabia: A Cross Sectional Study.
Asseri AA et al.
Children (basel, Switzerland), 2023
Mapping the Most Common Founder Variant in RSPH9 That Causes Primary Ciliary Dyskinesia in Multiple Consanguineous Families of Bedouin Arabs.
Al-Mutairi DA et al.
Journal of Clinical Medicine, 2023
Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis.
Xu Y et al.
Journal of Human Genetics, 2023
The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum.
Rumman N et al.
Erj Open Research, 2023
An Unusual Cause of Respiratory Distress in Term Neonate.
Alallah JS et al.
Cureus, 2022
Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patients.
Mabrouk I et al.
Journal of Human Genetics, 2022
Clinical and molecular characteristics of primary ciliary dyskinesia: A tertiary care centre experience.
Alzaid M et al.
International Journal of Pediatrics & Adolescent Medicine, 2021
Forty-seven pathogenic variants causing autosomal recessive disorders are shared by Israeli and Saudi Arabian Arabs.
Zlotogora J
Clinical Genetics, 2021
An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.
Shamseldin HE et al.
Human Genetics, 2020
Whole-exome sequencing accuracy in the diagnosis of primary ciliary dyskinesia.
Gileles-Hillel A et al.
Erj Open Research, 2020
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort.
Fassad MR et al.
Journal of Medical Genetics, 2020
Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia.
Fassad MR et al.
Clinical Genetics, 2020
Wide phenotypic variability in RSPH9-associated primary ciliary dyskinesia: review of a case-series from Cyprus.
Yiallouros PK et al.
Journal of Thoracic Disease, 2019
Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.
Frommer A et al.
American Journal of Respiratory Cell and Molecular Biology, 2015
Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process.
Erzurumluoglu AM et al.
Biomed Research International, 2015
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.
Hjeij R et al.
American Journal of Human Genetics, 2014
Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy.
Bush A et al.
Expert Review of Respiratory Medicine, 2012
From a single whole exome read to notions of clinical screening: primary ciliary dyskinesia and RSPH9 p.Lys268del in the Arabian Peninsula.
Alsaadi MM et al.
Annals of Human Genetics, 2012
Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients.
Ziętkiewicz E et al.
Plos One, 2012
The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel.
Zlotogora J
Human Genetics, 2010
Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families.
Reish O et al.
Annals of Human Genetics, 2010
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.
Leigh MW et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2009
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.
Castleman VH et al.
American Journal of Human Genetics, 2009