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Relevant bibliographies by topics / Intellectual disability, autism, exome sequencing, site-specific mutagenesis

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Journal articles
Dissertations / Theses

Academic literature on the topic 'Intellectual disability, autism, exome sequencing, site-specific mutagenesis'

Author: Grafiati

Published: 14 March 2023

Last updated: 31 July 2025

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Journal articles on the topic "Intellectual disability, autism, exome sequencing, site-specific mutagenesis"

1

Lamilla, Julian, Taryn A. Castro-Cuesta, Paula Rueda-Gaitán, et al. "A Robust and Comprehensive Study of the Molecular and Genetic Basis of Neurodevelopmental Delay in a Sample of 3244 Patients, Evaluated by Exome Analysis in a Latin Population." Diagnostics 15, no. 3 (2025): 376. https://doi.org/10.3390/diagnostics15030376.

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Background and Objectives: Neurodevelopmental disorders (NDDs), including developmental delay (DD), autism spectrum disorder (ASD), intellectual disability (ID), attention-deficit/hyperactivity disorder (ADHD), and specific learning disorders, affect 15% of children and adolescents worldwide. Advances in next-generation sequencing, particularly whole exome sequencing (WES), have improved the understanding of NDD genetics. Methodology: This study analyzed 3244 patients undergoing WES (single, duo, trio analyses), with 1028 meeting inclusion criteria (67% male; aged 0–50 years). Results: Pathoge

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Cesaroni, Carlo Alberto, Marzia Pollazzon, Cecilia Mancini, et al. "Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures." Frontiers in Neurology 14 (July 14, 2023). http://dx.doi.org/10.3389/fneur.2023.1207176.

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ObjectiveWe aimed to report on previously unappreciated clinical features associated with FOXP1-related intellectual disability (ID) syndrome, a rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, and language delay, with or without autistic features.MethodsWe performed whole-exome sequencing (WES) to molecularly characterize an individual presenting with ID, epilepsy, autism spectrum disorder, behavioral problems, and facial dysmorphisms as major features.ResultsWES allowed us to identify a previously unreported de novo splice site variant, c

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Dissertations / Theses on the topic "Intellectual disability, autism, exome sequencing, site-specific mutagenesis"

1

Pia, Bruno Lucia. "Exploring genetic bases of Intellectual disability and Autism: from Exome Sequencing on." Doctoral thesis, Università di Siena, 2022. https://hdl.handle.net/11365/1220415.

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Intellectual disability and autism spectrum disorder are various conditions with features often including status epilepticus, attention deficit hyperactivity disorder, craniofacial dysmorphisms, symptoms overlapping to many neurodevelopmental disorders. A net discernment between these conditions appears tricky, and a clinical evolution for many pathologies has been observed from childhood to adulthood presenting symptoms common to different pathologies (e.g. KBG syndrome, Cornelia de Lange, Noonan syndrome…). Whole-Exome sequencing has recently been recommended as a first-tier diagnostic

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Bruno, Lucia Pia. "Exploring genetic bases of Intellectual disability and Autism: from Exome Sequencing on." Doctoral thesis, Università di Siena, 2022. https://hdl.handle.net/11365/1220435.

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Abstract Intellectual disability and autism spectrum disorder are various conditions with features often including status epilepticus, attention deficit hyperactivity disorder, craniofacial dysmorphisms, symptoms overlapping to many neurodevelopmental disorders. A net discernment between these conditions appears tricky, and a clinical evolution for many pathologies has been observed from childhood to adulthood presenting symptoms common to different pathologies (e.g. KBG syndrome, Cornelia de Lange, Noonan syndrome…). Whole-Exome sequencing has recently been recommended as a first-tier d

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3

Bruno, Lucia Pia. "Exploring genetic bases of Intellectual disability and Autism: from Exome Sequencing on." Doctoral thesis, Università di Siena, 2022. https://hdl.handle.net/11365/1220439.

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Abstract:

Abstract Intellectual disability and autism spectrum disorder are various conditions with features often including status epilepticus, attention deficit hyperactivity disorder, craniofacial dysmorphisms, symptoms overlapping to many neurodevelopmental disorders. A net discernment between these conditions appears tricky, and a clinical evolution for many pathologies has been observed from childhood to adulthood presenting symptoms common to different pathologies (e.g. KBG syndrome, Cornelia de Lange, Noonan syndrome…). Whole-Exome sequencing has recently been recommended as a first-tier d

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