Associated Papers
A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.
Zhang D et al.
Annals of Human Genetics, 2022
35292975 (PubMed )
Supplement: AHG-86-207-s002.xlsx › RawData
Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.
Wu J et al.
Frontiers in Genetics, 2022
35368703 (PubMed )
Supplement: DataSheet1.zip › 823861_SupMaterial › Data_Sheet_1.ZIP › raw_datas › patient_2__NGS_raw_data.xlsx › Sheet1
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
35486589 (PubMed )
Supplement: pone.0267751.s001.xls › SIDS3-full
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1
Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
Zhu YM et al.
Frontiers in Cell and Developmental Biology, 2021
34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_5
Genetic polymorphisms in collagen-related genes are associated with pelvic organ prolapse.
Li L et al.
Menopause (new York, N.y.), 2020
31663982 (PubMed )
Supplement: menop-27-223-s001.xlsx › Sheet1
Co-occurrence of heterozygous mutations in COL1A1 and SERPINF1 in a high-risk pregnancy complicated by osteogenesis imperfecta.
Ji Y et al.
Journal of Genetics, 2019
Next-Generation Sequencing Reveals One Novel Missense Mutation in COL1A2 Gene in an Iranian Family with Osteogenesis imperfecta
Talebi F et al.
Iranian Biomedical Journal, 2017
Next-generation sequencing of common osteogenesis imperfecta-related genes in clinical practice.
Árvai K et al.
Scientific Reports, 2016
Non-Invasive Prenatal Diagnosis of Lethal Skeletal Dysplasia by Targeted Capture Sequencing of Maternal Plasma.
Dan S et al.
Plos One, 2016
27433940 (PubMed )
Supplement: pone.0159355.s013.xlsx › foetal_gDNA
A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1.
Xia XY et al.
Molecular Medicine Reports, 2014
A novel DHPLC-based procedure for the analysis of COL1A1 and COL1A2 mutations in osteogenesis imperfecta.
Fuccio A et al.
The Journal of Molecular Diagnostics : Jmd, 2011
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