Associated Papers
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
Clinical variants paired with phenotype: A rich resource for brain gene curation.
Chopra M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38059438 (PubMed )
Supplement: NIHMS1951004-supplement-1.xlsx › All_Variants
Complex Autism Spectrum Disorder in a Patient with a Novel De Novo Heterozygous MYT1L Variant.
Yip S et al.
Genes, 2023
The diagnostic yield of CGH and WES in neurodevelopmental disorders.
Alotibi RS et al.
Frontiers in Pediatrics, 2023
36937954 (PubMed )
Supplement: Datasheet1.pdf
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Coursimault J et al.
Human Genetics, 2022
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A et al.
Bmc Medical Genomics, 2020
32680510 (PubMed )
Supplement: 12920_2020_743_MOESM3_ESM.xlsx › Sheet1
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
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Munnich A et al.
Molecular Autism, 2019
A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability.
Loid P et al.
American Journal of Medical Genetics. Part A, 2018
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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