Exploring foci of:
Human Genetics • Vol 144 • No 2-3
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge
February 2025 • Maria Cristina Aspromonte, Alessio Del Conte, Roberta Polli, Demetrio Baldo, Francesco Benedicenti, Elisa Bettella, Stefania Bigoni, Stefania Boni, C…
Abstract Neurodevelopmental disorders (NDDs) are common conditions including clinically diverse and genetically heterogeneous diseases, such as intellectual disability, autism spectrum disorders, and epilepsy. The intricate genetic underpinnings of NDDs pose a formidable challenge, given their multifaceted genetic architecture and heterogeneous clinical presentations. This work delves into the intricate interplay between genetic variants and phenotypic manifestations in neurodevelopmental disorders, presenting a d…
Biology
Autism Spectrum
In Silico
Phenotype
Personalized Medicine
Computational Biology
Medicine
Psychiatry