De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal developmentChristopher T. Gordon(Délégation Paris 5), Bruno Reversade(Agency for Science, Technology and Research)Nature GeneticsJanuary 9, 201710.1038/ng.3765Cited by 133SaveCiteExport RISWatch citationsRelated PapersLoss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy|Nature Communications|2020|54Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis|Nature Genetics|2022|27