New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

• Main Authors: Eric Chater-Diehl (Author), Resham Ejaz (Author), Cheryl Cytrynbaum (Author), Michelle T. Siu (Author), Andrei Turinsky (Author), Sanaa Choufani (Author), Sarah J. Goodman (Author), Omar Abdul-Rahman (Author), Melanie Bedford (Author), Naghmeh Dorrani (Author), Kendra Engleman (Author), Josue Flores-Daboub (Author), David Genevieve (Author), Roberto Mendoza-Londono (Author), Wendy Meschino (Author), Laurence Perrin (Author), Nicole Safina (Author), Sharron Townshend (Author), Stephen W. Scherer (Author), Evdokia Anagnostou (Author), Amelie Piton (Author), Matthew Deardorff (Author), Michael Brudno (Author), David Chitayat (Author), Rosanna Weksberg (Author)
• Format: Book
• Published: BMC, 2019-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Nicolaides-Baraitser syndrome (NCBRS) is a neurodevelopmental disorder caused by pathogenic sequence variants in SMARCA2 which encodes the catalytic component of the chromatin remodeling BAF complex. Pathogenic variants in genes that encode epigenetic regulators have been associa...