Associated Papers
The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar.
Alkhidir S et al.
Scientific Reports, 2024
38378725 (PubMed )
Supplement: 41598_2024_52784_MOESM2_ESM.docx
Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset.
Domogala DD et al.
Human Genomics, 2021
Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1.
Choi SI et al.
Genes, 2021
Novel Splice Site Pathogenic Variant of EFTUD2 Is Associated with Mandibulofacial Dysostosis with Microcephaly and Extracranial Symptoms in Korea.
Kim SY et al.
Diagnostics (basel, Switzerland), 2020
32408545 (PubMed )
Supplement: diagnostics-10-00296-s001.xlsx › Sheet1__3_
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.
Acke FR et al.
Molecular Genetics and Metabolism, 2014
A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.
Majava M et al.
American Journal of Medical Genetics. Part A, 2007
Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia.
Melkoniemi M et al.
European Journal of Human Genetics : Ejhg, 2003
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