Associated Papers
Genetically inspired organoids prevent joint degeneration and alleviate chondrocyte senescence via Col11a1-HIF1α-mediated glycolysis-OXPHOS metabolism shift.
Sun Y et al.
Clinical and Translational Medicine, 2024
Dispersed DNA variants underlie hearing loss in South Florida's minority population.
Peart L et al.
Human Genomics, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Scocchia A et al.
Orphanet Journal of Rare Diseases, 2021
Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.
Khan AO et al.
Molecular Genetics & Genomic Medicine, 2021
Whole Exome Sequencing Uncovered the Genetic Architecture of Growth Hormone Deficiency Patients.
Yu C et al.
Frontiers in Endocrinology, 2021
An Initial Survey of the Performances of Exome Variant Analysis and Clinical Reporting Among Diagnostic Laboratories in China.
Zhang K et al.
Frontiers in Genetics, 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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
Audiologic Manifestations of Marshall Syndrome.
Bacciu A et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2018
Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall-Stickler syndrome spectrum.
Guo L et al.
Human Genome Variation, 2017
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.
Acke FR et al.
Molecular Genetics and Metabolism, 2014
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
Mosaicism in Marshall syndrome.
Ala-Kokko L et al.
American Journal of Medical Genetics. Part A, 2009
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