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Regulatory Toxicology and Pharmacology : RTP|April 24, 2020
An FDA/CDER perspective on nonclinical testing strategies: Classical toxicology approaches and new approach methodologies (NAMs)Amy M Avila, Ilona Bebenek, Jessica A Bonzo, et al.JIMD Reports|February 12, 2014
AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-AcetylaspartateMarni J Falk, Dong Li, Xiaowu Gai, et al.American Journal of Ophthalmology|October 1, 2018
The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 GeneDaniel C Chung, Mette Bertelsen, Birgit Lorenz, et al.Human Molecular Genetics|June 20, 2018
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesisEmanuele Barca, Rebecca D Ganetzky, Prasanth Potluri, et al.JAMA Network Open|May 8, 2023
Perspectives of Rare Disease Experts on Newborn Genome SequencingNina B Gold, Sophia M Adelson, Nidhi Shah, et al.European Journal of Human Genetics : EJHG|February 20, 2019
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairmentVolkan Okur, Megan T Cho, Richard van Wijk, et al.Human Molecular Genetics|August 30, 2014
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndromeKinga M Bujakowska, Qi Zhang, Anna M Siemiatkowska, et al.Nature Genetics|July 31, 2012
NMNAT1 mutations cause Leber congenital amaurosisMarni J Falk, Qi Zhang, Eiko Nakamaru-Ogiso, et al.American Journal of Human Genetics|September 3, 2013
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathyXiaowu Gai, Daniele Ghezzi, Mark A Johnson, et al.Human Mutation|January 4, 2012
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific databaseMatthew Bower, Rémi Salomon, Judith Allanson, et al.Pageof 4