Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Npj Parkinson'S Disease
Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Population genomics of Mesolithic Scandinavia: Investigating early postglacial migration routes and high-latitude adaptation.
Plos Biology
Günther, Torsten T; Malmström, Helena H; Svensson, Emma M EM; Omrak, Ayça A; Sánchez-Quinto, Federico F; Kılınç, Gülşah M GM; Krzewińska, Maja M; Eriksson, Gunilla G; Fraser, Magdalena M; Edlund, Hanna H; Munters, Arielle R AR; Coutinho, Alexandra A; Simões, Luciana G LG; Vicente, Mário M; Sjölander, Anders A; Jansen Sellevold, Berit B; Jørgensen, Roger R; Claes, Peter P; Shriver, Mark D MD; Valdiosera, Cristina C; Netea, Mihai G MG; Apel, Jan J; Lidén, Kerstin K; Skar, Birgitte B; Storå, Jan J; Götherström, Anders A; Jakobsson, Mattias M