View publication

↩ Back to all publications
Publication
PropertyValue
Working Groups Winkelmann
SubprojectNone
Open AccessNo
Publication TypeJournal Article
Peer ReviewedYes
PMIDPubMed ID 37075751
DOIDOI 10.1016/j.ajhg.2023.03.014
Publication Year2023
TitlePOLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
JournalAmerican journal of human genetics
ISSN0002-9297
ESSN1537-6605
URL https://www.ncbi.nlm.nih.gov/pubmed/?term=37075751%5Buid%5D
Pages809-825
Issue5
Volume110
Journal AbbreviationAm J Hum Genet
AuthorsSmallwood K, Watt KEN, Ide S, Baltrunaite K, Brunswick C, Inskeep K, Capannari C, Adam MP, Begtrup A, Bertola DR, Demmer L, Demo E, Devinsky O, Gallagher ER, Guillen Sacoto MJ, Jech R, Keren B, Kussmann J, Ladda R, Lansdon LA, Lunke S, Mardy A, McWalters K, Person R, Raiti L, Saitoh N, Saunders CJ, Schnur R, Skorvanek M, Sell SL, Slavotinek A, Sullivan BR, Stark Z, Symonds JD, Wenger T, Weber S, Whalen S, White SM, Winkelmann J, Zech M, Zeidler S, Maeshima K, Stottmann RW, Trainor PA, Weaver KN
First AuthorSmallwood K
Last AuthorWeaver KN