Associated Papers
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM12_ESM.xlsx › Sheet1
Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries.
Al Mutery A et al.
Human Genetics, 2022
Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.
Khan AO et al.
Molecular Genetics & Genomic Medicine, 2021
33951325 (PubMed )
Supplement: MGG3-9-e1628-s002.pdf
Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.
Booth KT et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection.
Mustafa AE et al.
Genes, 2018
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings.
Khalifa O et al.
American Journal of Medical Genetics. Part A, 2014
A recessive form of Marshall syndrome is caused by a mutation in the COL11A1 gene.
Khalifa O et al.
Journal of Medical Genetics, 2012
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