Associated Papers
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.
Bisarad P et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Clinical and Genetic Characterization of Woodhouse-Sakati Syndrome in Iranian Patients: A Case Series.
Khosravi S et al.
Journal of Movement Disorders, 2025
Arab founder variants: Contributions to clinical genomics and precision medicine.
AlAbdi L et al.
Med (new York, N.y.), 2025
Woodhouse-Sakati syndrome in an Indian patient with a novel pathogenic variant.
Amalnath SD et al.
American Journal of Medical Genetics. Part A, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
The clinical utility of rapid exome sequencing in a consanguineous population.
Monies D et al.
Genome Medicine, 2023
Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review.
Kohil A et al.
Orphanet Journal of Rare Diseases, 2023
Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries.
Al Mutery A et al.
Human Genetics, 2022
Forty-seven pathogenic variants causing autosomal recessive disorders are shared by Israeli and Saudi Arabian Arabs.
Zlotogora J
Clinical Genetics, 2021
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A et al.
Bmc Medical Genomics, 2020
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
Woodhouse-Sakati syndrome in a family is associated with a homozygous start loss mutation in the DCAF17 gene.
Shah K et al.
Clinical and Experimental Dermatology, 2020
A novel DCAF17 homozygous mutation in a girl with Woodhouse-Sakati syndrome and review of the current literature.
Kurnaz E et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019
Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation.
Hdiji O et al.
Journal of Movement Disorders, 2016
The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome.
Sheridan MB et al.
Case Reports in Genetics, 2015
Alopecia and hypotrichosis as characteristic findings in Woodhouse-Sakati syndrome: report of a family with mutation in the C2orf37 gene.
Nanda A et al.
Pediatric Dermatology, 0