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American Journal of Ophthalmology|June 17, 2026
SEARCHING FOR NEW GENES THAT CAUSE USHER SYNDROMEAla Moshiri, Niusha Kasiri, Michael Shea, et al.American Journal of Human Genetics|August 27, 2024
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expressionSamantha Malka, Pooja Biswas, Anne-Marie Berry, et al.American Journal of Human Genetics|April 23, 2025
Bi-allelic UGGT1 variants cause a congenital disorder of glycosylationZain Dardas, Laura Harrold, Daniel G Calame, et al.Medrxiv : the Preprint Server for Health Sciences|February 26, 2024
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disordersDaniel G Calame, Jovi Huixin Wong, Puravi Panda, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 22, 2024
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrumDaniel G Calame, Jovi Huixin Wong, Puravi Panda, et al.Medrxiv : the Preprint Server for Health Sciences|January 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosaMathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.Nature Genetics|January 9, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosaMathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, et al.Pageof 4