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The EMBO Journal|November 14, 2018
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegenerationVandana Shashi, Maria M Magiera, Dennis Klein, et al.
Nature|August 1, 2008
Large recurrent microdeletions associated with schizophreniaHreinn Stefansson, Dan Rujescu, Sven Cichon, et al.
American Journal of Human Genetics|January 28, 2021
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosisPatricia L Weng, Amar J Majmundar, Kamal Khan, et al.
Science (New York, N.Y.)|February 21, 2015
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathwaysElizabeth T Cirulli, Brittany N Lasseigne, Slavé Petrovski, et al.
Medrxiv : the Preprint Server for Health Sciences|August 14, 2023
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney diseaseYask Gupta, David J Friedman, Michelle McNulty, et al.
American Journal of Human Genetics|June 11, 2021
Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individualsJack A Kosmicki, Julie E Horowitz, Nilanjana Banerjee, et al.
Medrxiv : the Preprint Server for Health Sciences|January 23, 2024
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSSAvinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan, et al.
Nature Communications|November 30, 2023
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney diseaseYask Gupta, David J Friedman, Michelle T McNulty, et al.
Nature|July 3, 2009
Common variants conferring risk of schizophreniaHreinn Stefansson, Roel A Ophoff, Stacy Steinberg, et al.
Nature|August 13, 2013
De novo mutations in epileptic encephalopathies, , Andrew S Allen, et al.
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