Open AccessAn HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
Author(s) -
Sanaa Choufani,
Vanda McNiven,
Cheryl Cytrynbaum,
Maryam Jangjoo,
Margaret P Adam,
Hans T. Björnsson,
Jacqueline Harris,
David A. Dyment,
Gail E. Graham,
Marjan M. Nezarati,
Ritu B. Aul,
Claudia Castiglioni,
Jeroen Breckpot,
Koenraad Devriendt,
Helen Stewart,
Benito Baños-Piñero,
Sarju Mehta,
Richard Sandford,
Carolyn Dunn,
Remi Mathevet,
Lionel Van Maldergem,
Juliette Piard,
Elise BrischouxBoucher,
Antonio Vitobello,
Laurence Faivre,
Marie Bournez,
Frederic Tran-Mau,
Isabelle Maystadt,
Alberto FernándezJaén,
Sara Álvarez,
Irene Díez García-Prieto,
Fowzan S. Alkuraya,
Hessa S. Alsaif,
Zuhair Rahbeeni,
Karen ElAkouri,
Mariam AlMureikhi,
Rebecca C. Spillmann,
Vandana Shashi,
Pedro A. SanchezLara,
John M. Graham,
Amy E. Roberts,
Odelia Chorin,
Gilad D. Evrony,
Minna KraatariTiri,
Tracy DuddingByth,
Anamaria Richardson,
David Hunt,
Laura S. Hamilton,
Sarah Dyack,
Bryce A. Mendelsohn,
Nicolás Rodríguez,
Rosario SánchezMartínez,
Jair Tenorio,
Julián Nevado,
Pablo Lapunzina,
Pilar Tirado,
Maria-Teresa Carminho Amaro Rodrigues,
Lina Quteineh,
A. Micheil Innes,
Antonie D. Kline,
Ping Yee Billie Au,
Rosanna Weksberg
Publication year - 2022
Publication title -
the american journal of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.661
H-Index - 302
eISSN - 1537-6605
pISSN - 0002-9297
DOI - 10.1016/j.ajhg.2022.08.014
Subject(s) - missense mutation , biology , dnam , phenotype , genetics , epigenetics , loss function , dna methylation , gene , gene expression
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