Associated Papers
Children with suspected hereditary spastic paraplegia clearly benefit from whole exome analysis.
Safka Brozkova D et al.
Human Genomics, 2026
Neurobehavioral Profiles and Clinical Consequences of MYT1L-Related Neurodevelopmental Disorder: Insights from the Brain Gene Registry.
Granadillo JL et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India.
Panigrahi I et al.
Case Reports in Genetics, 2024
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
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 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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