Associated Papers
Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing.
Bard AM et al.
American Journal of Medical Genetics. Part A, 2024
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.
Lin S et al.
Ophthalmology. Retina, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
Detailed Clinical, Ophthalmic, and Genetic Characterization of ADGRV1-Associated Usher Syndrome.
Daich Varela M et al.
American Journal of Ophthalmology, 2023
Known pathogenic gene variants and new candidates detected in Sudden Unexpected Infant Death using Whole Genome Sequencing.
Bard AM et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.
Stephenson KAJ et al.
Investigative Ophthalmology & Visual Science, 2023
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
G-protein coupled receptor (GPCR) mutations in lymphoid malignancies: linking immune signaling activation and genetic abnormalities.
Martinez-Climent JA
Haematologica, 2018
MULTIMODAL IMAGING OF DISEASE-ASSOCIATED PIGMENTARY CHANGES IN RETINITIS PIGMENTOSA.
Schuerch K et al.
Retina (philadelphia, Pa.), 2016
Multimodal Imaging of Central Retinal Disease Progression in a 2-Year Mean Follow-up of Retinitis Pigmentosa.
Sujirakul T et al.
American Journal of Ophthalmology, 2015
Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.
Foley SB et al.
Ebiomedicine, 2015
A novel mutation of the USH2C (GPR98) gene in an Iranian family with Usher syndrome type II.
Kahrizi K et al.
Journal of Genetics, 2014
Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.
Le Quesne Stabej P et al.
Journal of Medical Genetics, 2012
A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.
Hilgert N et al.
Journal of Medical Genetics, 2009
GPR98 mutations cause Usher syndrome type 2 in males.
Ebermann I et al.
Journal of Medical Genetics, 2009
Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.
Jacobson SG et al.
Human Molecular Genetics, 2008
Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II.
Weston MD et al.
American Journal of Human Genetics, 2004