Associated Papers
Genomic alterations in ovarian endometriosis and subsequently diagnosed ovarian carcinoma.
Linder A et al.
Human Reproduction (oxford, England), 2024
A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.
Zhang D et al.
Annals of Human Genetics, 2022
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.
Lei P et al.
Plos One, 2022
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
Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.
Nagasawa S et al.
Communications Biology, 2021
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L et al.
Bmc Medical Genetics, 2020
Clinical Profiles of DFNA11 at Diverse Stages of Development and Aging in a Large Family Identified by Linkage Analysis.
Yamamoto N et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2020
Integrated Somatic and Germline Whole-Exome Sequencing Analysis in Women with Lung Cancer after a Previous Breast Cancer.
Coco S et al.
Cancers, 2019
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
Exome-wide Association Study Identifies CLEC3B Missense Variant p.S106G as Being Associated With Extreme Longevity in East Asian Populations.
Tanisawa K et al.
The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences, 2017
Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon-Lefevre syndrome in a Saudi family.
Alkhiary YM et al.
Saudi Journal of Biological Sciences, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.
Rong W et al.
Plos One, 2014
Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family.
Gao X et al.
Plos One, 2014
Extended mutation spectrum of Usher syndrome in Finland.
Västinsalo H et al.
Acta Ophthalmologica, 2013
An Usher syndrome type 1 patient diagnosed before the appearance of visual symptoms by MYO7A mutation analysis.
Yoshimura H et al.
International Journal of Pediatric Otorhinolaryngology, 2013
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
Bonnet C et al.
Orphanet Journal of Rare Diseases, 2011
Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China.
Sun Y et al.
Journal of Human Genetics, 2011
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
Jaijo T et al.
Investigative Ophthalmology & Visual Science, 2010
High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays.
Kothiyal P et al.
Bmc Biotechnology, 2010
Pigmentation-related genes and their implication in malignant melanoma susceptibility.
Fernandez LP et al.
Experimental Dermatology, 2009
Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.
Jaijo T et al.
Human Mutation, 2006
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.
Ouyang XM et al.
Human Genetics, 2005
Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.
Janecke AR et al.
Human Mutation, 1999
Novel deleterious mutation in MYO7A, TH and EVC2 in two Pakistani brothers with familial deafness.
Sabiha B et al.
Pakistan Journal of Medical Sciences, 0