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Iscience|September 15, 2021
Encephalopathy-causing mutations in Gβ1 (GNB1) 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.
Nature|January 28, 2026
Population-scale sequencing resolves determinants of persistent EBV DNASherry S Nyeo, Erin M Cumming, Oliver S Burren, et al.
Journal of Hepatology|October 27, 2011
Single nucleotide polymorphism upstream of interleukin 28B associated with phase 1 and phase 2 of early viral kinetics in patients infected with HCV genotype 1Charles D Howell, Alexis Gorden, Kathleen A Ryan, et al.
Schizophrenia Research|January 16, 2023
Genetic insights into childhood-onset schizophrenia: The yield of clinical exome sequencingAnna Alkelai, Lior Greenbaum, Shahar Shohat, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 20, 2007
Review of evidence for genetic testing for CYP450 polymorphisms in management of patients with nonpsychotic depression with selective serotonin reuptake inhibitorsMugdha Thakur, Iris Grossman, Douglas C McCrory, et al.
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