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Proceedings of the National Academy of Sciences of the United States of America|December 29, 2018
Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysisPatrick Maffucci, Benedetta Bigio, Franck Rapaport, et al.Journal of Alzheimer'S Disease : JAD|January 12, 2010
Genome-wide scan of copy number variation in late-onset Alzheimer's diseaseErin L Heinzen, Anna C Need, Kathleen M Hayden, et al.Proceedings of the National Academy of Sciences of the United States of America|April 5, 2005
Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoinSarah K Tate, Chantal Depondt, Sanjay M Sisodiya, et al.Iscience|September 15, 2021
Encephalopathy-causing mutations in Gβ<sub>1</sub> (<i>GNB1</i>) alter regulation of neuronal GIRK channelsHaritha P Reddy, Daniel Yakubovich, Tal Keren-Raifman, et al.The Journal of Infectious Diseases|December 14, 2011
Variants in the ITPA gene protect against ribavirin-induced hemolytic anemia in HIV/HCV-coinfected patients with all HCV genotypesSusanna Naggie, Norma I Rallon, José M Benito, et al.Annals of Neurology|September 7, 2004
The gene responsible for PARK6 Parkinson's disease, PINK1, does not influence common forms of parkinsonismDaniel G Healy, Patrick M Abou-Sleiman, Kourosh R Ahmadi, et al.American Journal of Medical Genetics. Part A|September 24, 2017
Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient seriesAnya Revah-Politi, Mythily Ganapathi, Louise Bier, et al.Journal of Human Genetics|September 19, 2020
Expansion of the GRIA2 phenotypic representation: a novel de novo loss of function mutation in a case with childhood onset schizophreniaAnna Alkelai, Shahar Shohat, Lior Greenbaum, et al.Annals of Clinical and Translational Neurology|July 17, 2018
Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's diseaseNeha S Raghavan, Adam M Brickman, Howard Andrews, et al.HIV Medicine|August 1, 2025
Leukocyte count and new-onset diabetes mellitus in people with HIV: A longitudinal studySophia C Meyer, Zoe Klein, Isabella C Schoepf, et al.Pageof 51