Clinical cohort findings that rare monoallelic LoF variants in ZNF536 underlie a genetic neurodevelopmental disorder characterized by developmental delay, autism, and behavioral dysregulation support a role for ZNF536 as a dosage-sensitive regulator of cortical development.
S. Hiatt, Wen-Jing Zhao, Zhong-Qing Wang et al.· American Journal of Human Ge...· 0 citations
This represents the most comprehensive characterization to date of TRND, a novel neurodevelopmental disorder, defining its genotypic and phenotypic spectrum.
Sally Nijim, Mimi Kim, Melissa Denish et al.· Genetics in Medicine· 1 citation
A high prevalence of rare (mainly de novo) genetic variants in individuals with severe and sporadic DLD is revealed, and extensive molecular overlap with other neurodevelopmental disorders is demonstrated.
Milou G. P. Kennis, Leenke van Haaften, K. van Hulst et al.· European Journal of Human Ge...· 0 citations
This case underscores that the genetic and neuropsychological identification of a neurodevelopmental disorder, together with the integration of tailored psychomotor interventions and contextual adaptations, can improve psychiatric management and daily functioning, and mitigate behavioral decline in adulthood, even foll...
A. Bos-Roubos, Rosalie Te Brinke, A. Kattentidt-Mouravieva et al.· Frontiers in Psychiatry· 0 citations
An integrative study combining Mendelian genetics, clinical and association studies, and animal and molecular modeling supports variants in ELAVL2 as a cause of a neurodevelopmental disorder, with haploinsufficiency as the disease mechanism, and identifies crucial roles of ELAVL2 in neuronal function, cognition, and be...
Marina Boon, Meghan R. Mulligan, Jolijn J. A. Verseput et al.· American Journal of Human Ge...· 0 citations
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