De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal developmentSubmitted on 8 Jan 2018 HAL is a multi-disciplinary open access archive

Epigenetic modifier SMCHD1 maintains a normal pool of long-term hematopoietic stem cellsEpigenetic modifier SMCHD1 maintains a normal pool of long-term hematopoietic stem

RADAR Research Archive and Digital Asset Repository Gordon, C., et al. (2017) 'De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal

16052652592949 1..27Copyright Wanigasuriya et al. Commons Attribution License, credited. Smchd1 is a maternal effect gene required for genomic imprinting Iromi Wanigasuriya1,2†,

PDF hosted at the Radboud Repository of the Radboud University Nijmegen For additional information about this publication click this link. https://hdl.handle.net/2066/220627

untitledReview Article Relating SMCHD1 structure to its function in epigenetic silencing Alexandra D. Gurzau1,2, Marnie E. Blewitt1,2,3, Peter E. Czabotar1,2, James M. Murphy1,2

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome238 VOLUME 49 | NUMBER 2 | FEBRUARY 2017