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American Journal of Human Genetics|September 12, 2007
Clinical and molecular phenotype of Aicardi-Goutieres syndromeGillian Rice, Teresa Patrick, Rekha Parmar, et al.Movement Disorders : Official Journal of the Movement Disorder Society|January 24, 2023
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD CohortEva-Juliane Vollstedt, Susen Schaake, Katja Lohmann, et al.Brain : a Journal of Neurology|August 1, 2024
Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson's disease studyAna Westenberger, Volha Skrahina, Tatiana Usnich, et al.American Journal of Medical Genetics. Part A|January 22, 2015
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1Yanick J Crow, Diana S Chase, Johanna Lowenstein Schmidt, et al.American Journal of Medical Genetics. Part A|September 19, 2009
Expanding CEP290 mutational spectrum in ciliopathiesLorena Travaglini, Francesco Brancati, Tania Attie-Bitach, 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.Autophagy|September 12, 2012
Guidelines for the use and interpretation of assays for monitoring autophagyDaniel J Klionsky, Fabio C Abdalla, Hagai Abeliovich, et al.Pageof 36