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Publication
PropertyValue
Working Groups Winkelmann
SubprojectNone
Open AccessOpen Access Yes
Publication TypeJournal Article
Peer ReviewedYes
PMIDPubMed ID 38423010
DOIDOI 10.1016/j.ajhg.2024.02.005
Publication Year2024
TitleBi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.
JournalAmerican journal of human genetics
ISSN0002-9297
ESSN1537-6605
URL https://www.ncbi.nlm.nih.gov/pubmed/?term=38423010%5Buid%5D
Pages594-613
Issue3
Volume111
Journal AbbreviationAm J Hum Genet
AuthorsBrugger M, Lauri A, Zhen Y, Gramegna LL, Zott B, Sekulić N, Fasano G, Kopajtich R, Cordeddu V, Radio FC, Mancini C, Pizzi S, Paradisi G, Zanni G, Vasco G, Carrozzo R, Palombo F, Tonon C, Lodi R, La Morgia C, Arelin M, Blechschmidt C, Finck T, Sørensen V, Kreiser K, Strobl-Wildemann G, Daum H, Michaelson-Cohen R, Ziccardi L, Zampino G, Prokisch H, Abou Jamra R, Fiorini C, Arzberger T, Winkelmann J, Caporali L, Carelli V, Stenmark H, Tartaglia M, Wagner M
First AuthorBrugger M
Last AuthorWagner M