Associated Papers
Complex Autism Spectrum Disorder in a Patient with a Novel De Novo Heterozygous MYT1L Variant.
Yip S et al.
Genes, 2023
38136944 (PubMed )
Supplement: genes-14-02122-s001.zip › Table_S1.xlsx › Phenotype_Comparisons
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Experimental_by_OMIM
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Coursimault J et al.
Human Genetics, 2022
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8
Nine newly identified individuals refine the phenotype associated with MYT1L mutations.
Windheuser IC et al.
American Journal of Medical Genetics. Part A, 2020
MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature.
Al Tuwaijri A et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019
MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.
Blanchet P et al.
Plos Genetics, 2017
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