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Investigative Ophthalmology & Visual Science|April 9, 2010
Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli populationDikla Bandah-Rozenfeld, Karin W Littink, Tamar Ben-Yosef, et al.FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|January 21, 2021
Systemic Jak1 activation provokes hepatic inflammation and imbalanced FGF23 production and cleavageArezoo Daryadel, Pedro A Ruiz, Nicole Gehring, et al.American Journal of Human Genetics|August 16, 2006
Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosisAnneke I den Hollander, Robert K Koenekoop, Suzanne Yzer, et al.Brain : a Journal of Neurology|December 21, 2013
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrumMatthis Synofzik, Michael A Gonzalez, Charles Marques Lourenco, et al.Nature Genetics|December 9, 2014
Mutations in the deubiquitinase gene USP8 cause Cushing's diseaseMartin Reincke, Silviu Sbiera, Akira Hayakawa, et al.Mammalian Genome : Official Journal of the International Mammalian Genome Society|January 25, 2016
Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasiaSusanne Diener, Sieglinde Bayer, Sibylle Sabrautzki, et al.Journal of the Association for Research in Otolaryngology : JARO|July 26, 2011
Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutationsNicole J D Weegerink, Margit Schraders, Jaap Oostrik, et al.Nature Genetics|October 13, 2006
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasisBettina Lorenz-Depiereux, Murat Bastepe, Anna Benet-Pagès, et al.Mammalian Genome : Official Journal of the International Mammalian Genome Society|April 25, 2012
New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesisSibylle Sabrautzki, Isabel Rubio-Aliaga, Wolfgang Hans, et al.Parkinsonism & Related Disorders|July 7, 2020
Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystoniaMichael Zech, Theresa Brunet, Matej Škorvánek, et al.Pageof 29