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
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 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 with no reportable MRI findings: a case report.
Irvine RE et al.
Bmc Neurology, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Woodhouse-Sakati syndrome in an Indian patient with a novel pathogenic variant.
Amalnath SD et al.
American Journal of Medical Genetics. Part A, 2024
Nine Hereditary Movement Disorders First Described in Asia: Their History and Evolution.
Jagota P et al.
Journal of Movement Disorders, 2023
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
Three Siblings With Woodhouse-Sakati Syndrome: A Case Report of A New Saudi Family.
Alhuzaim ON et al.
Cureus, 2022
Whole exome sequencing and transcript analysis discover a novel pathogenic splice site mutation in DCAF17 gene underlying Woodhouse-Sakati syndrome.
Kumari R et al.
Journal of Neuroendocrinology, 2022
Multimodal Evoked Potential Profiles in Woodhouse-Sakati Syndrome.
Abusrair A et al.
Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society, 2022
Woodhouse-Sakati Syndrome Presenting With Psychotic Features After Starting Trihexyphenidyl: A Case Report.
Aljaffer MA et al.
Cureus, 2022
Radiological Findings of Woodhouse-Sakati Syndrome: Cases Reported From Saudi Arabia.
Alzahrani AM et al.
Cureus, 2022
Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries.
Al Mutery A et al.
Human Genetics, 2022
Qatar genome: Insights on genomics from the Middle East.
Mbarek H et al.
Human Mutation, 2022
Insights into National Laboratory Newborn Screening and Future Prospects.
Mujamammi AH
Medicina (kaunas, Lithuania), 2022
Expanding on the phenotypic spectrum of Woodhouse-Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review.
Ali R et al.
American Journal of Medical Genetics. Part A, 2022
Woodhouse-Sakati syndrome (WSS): A case report of 3 Saudi sisters with urogenital anomalies.
Alharbi MS
Saudi Medical Journal, 2021
Forty-seven pathogenic variants causing autosomal recessive disorders are shared by Israeli and Saudi Arabian Arabs.
Zlotogora J
Clinical Genetics, 2021
Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family.
Chen G et al.
Frontiers in 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
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
Brain MR Imaging Findings in Woodhouse-Sakati Syndrome.
Abusrair AH et al.
Ajnr. American Journal of Neuroradiology, 2018
Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome.
Almeqdadi M et al.
The American Journal of Case Reports, 2018
Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation.
Hdiji O et al.
Journal of Movement Disorders, 2016
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
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
Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature.
Agopiantz M et al.
Journal of Endocrinological Investigation, 2014
Map of autosomal recessive genetic disorders in Saudi Arabia: concepts and future directions.
Al-Owain M et al.
American Journal of Medical Genetics. Part A, 2012
A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin.
Habib R et al.
Gene, 2011
Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene.
Ben-Omran T et al.
American Journal of Medical Genetics. Part A, 2011
Woodhouse-Sakati syndrome in an Israeli-Arab family presenting with youth-onset diabetes mellitus and delayed puberty.
Rachmiel M et al.
Hormone Research in Paediatrics, 2011
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.
Alazami AM et al.
American Journal of Human Genetics, 2008
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