Associated Papers
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.
D'Abrusco F et al.
European Journal of Human Genetics : Ejhg, 2025
Genetic landscape and clinical outcomes of autosomal recessive polycystic kidney disease in Kuwait.
Alhaddad ME et al.
Heliyon, 2024
National Rapid Genome Sequencing in Neonatal Intensive Care.
Marom D et al.
Jama Network Open, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing.
Borgio JF
Archives of Medical Science : Ams, 2023
Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.
Al-Hamed MH et al.
Human Genetics, 2022
Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.
Barroso-Gil M et al.
Molecular Genetics & Genomic Medicine, 2021
Molecular autopsy by proxy in preconception counseling.
Ali Alghamdi M et al.
Clinical Genetics, 2021
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE et al.
Genome Medicine, 2021
Forty-seven pathogenic variants causing autosomal recessive disorders are shared by Israeli and Saudi Arabian Arabs.
Zlotogora J
Clinical Genetics, 2021
Characterizing the morbid genome of ciliopathies.
Shaheen R et al.
Genome Biology, 2016
Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel.
Al-Hamed MH et al.
Journal of Medical Genetics, 2016
Identification of a novel MKS locus defined by TMEM107 mutation.
Shaheen R et al.
Human Molecular Genetics, 2015
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.
Hopp K et al.
Human Molecular Genetics, 2011
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
Mougou-Zerelli S et al.
Human Mutation, 2009
Applying filtration steps to interpret the results of whole-exome sequencing in a consanguineous population to achieve a high detection rate.
Alfares AA
International Journal of Health Sciences, 0