Associated Papers
Gene4Denovo2: an updated platform for human de novo mutations discovery and interpretation.
Zhu Z et al.
Nucleic Acids Research, 2026
41024706 (PubMed )
Supplement: gkaf980_supplemental_files.zip › Table_S1._WGS_or_WES_studies_regarding_to_DNMs_in_Gene4Denovo2.docx
Expression, Subcellular Localization, and Mechanistic Analysis of Intellectual Disability Syndrome Protein ABBA.
Jabeen A et al.
Molecular Neurobiology, 2025
Identification of novel human microcephaly-linked protein Mtss2 that mediates cortical progenitor cell division and corticogenesis through Nedd9-RhoA.
Carabalona A et al.
Elife, 2025
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1
MTSS2 -Related Disorder: Refining the Phenotype in Four New Cases and Literature Review.
Dominicis A et al.
American Journal of Medical Genetics. Part A, 2025
Identification of a Chinese patient with MTSS2-causing intellectual disability by WES reanalysis: a case report.
Li D et al.
Frontiers in Psychiatry, 2025
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
MTSS2-related neurodevelopmental disorder: Further delineation of the phenotype.
Corona-Rivera JR et al.
European Journal of Medical Genetics, 2023
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.
Huang Y et al.
American Journal of Human Genetics, 2022
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability.
Huang Y et al.
American Journal of Human Genetics, 2022
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