Primary publications:
Holtz AM, et al. Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling. Genet Med. 2022 Oct;24(10):2065-2078. PMID: 35980381.
Jurgens JA et al. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. Genet Med. 2025 Apr;27(4):101216. PMID: 39033378.
Scheidecker S et al. Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes. Eur J Hum Genet. 2025 Mar 5. PMID: 40044823.
Other publications:
Aspromonte MC et al. Hum Mutat. 2020 Jun;41(6):1183. doi: 10.1002/humu.24012. Epub 2020 Mar 20. Erratum for: Hum Mutat. 2019 Sep;40(9):1346-1363. doi: 10.1002/humu.23822. PMID: 32400065.
Hamdan FF et al. De novo mutations in moderate or severe intellectual disability. PLoS Genet. 2014 Oct 30;10(10):e1004772. PMID: 25356899.
Iossifov I et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature. 2014 Nov 13;515(7526):216-21. PMID: 25363768.
Jin SC et al. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet. 2017 Nov;49(11):1593-1601. PMID: 28991257.
Kosmicki JA et al. Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. Nat Genet. 2017 Apr;49(4):504-510. PMID: 28191890.
Li J et al. Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database. Mol Psychiatry. 2016 Feb;21(2):298. Erratum for: Mol Psychiatry. 2016 Feb;21(2):290-7. PMID: 25939403.
O'Roak BJ et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature. 2012 Apr 4;485(7397):246-50. PMID: 22495309.
Petrovski S et al. Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study. Lancet. 2019 Feb 23;393(10173):758-767. PMID: 30712878.
Qiao L et al. Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes. Genet Med. 2020 Dec;22(12):2020-2028. PMID: 32719394.
Satterstrom FK et al. Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell. 2020 Feb 6;180(3):568-584.e23. PMID: 31981491.
Tuzovic L et al. A human de novo mutation in MYH10 phenocopies the loss of function mutation in mice. Rare Dis. 2013 Aug 14;1:e26144. PMID: 25003005.