[HTML][HTML] New candidates for autism/intellectual disability identified by whole-exome sequencing

LP Bruno, G Doddato, F Valentino… - International journal of …, 2021 - mdpi.com
Intellectual disability (ID) is characterized by impairments in the cognitive processes and in
the tasks of daily life. It encompasses a clinically and genetically heterogeneous group of …

Characterization of intellectual disability and autism comorbidity through gene panel sequencing

MC Aspromonte, M Bellini, A Gasparini… - Human …, 2019 - Wiley Online Library
Intellectual disability (ID) and autism spectrum disorder (ASD) are clinically and genetically
heterogeneous diseases. Recent whole exome sequencing studies indicated that genes …

[HTML][HTML] Exome sequencing in 200 intellectual disability/autistic patients: New candidates and atypical presentations

F Valentino, LP Bruno, G Doddato, A Giliberti, R Tita… - Brain Sciences, 2021 - mdpi.com
Intellectual disability (ID) and autism spectrum disorder (ASD) belong to
neurodevelopmental disorders and occur in~ 1% of the general population. Due to disease …

[HTML][HTML] Two genetic mechanisms in two siblings with intellectual disability, autism spectrum disorder, and psychosis

YS Huang, TH Fang, B Kung, CH Chen - Journal of Personalized …, 2022 - mdpi.com
Intellectual disability (ID) and autism spectrum disorder (ASD) are complex
neurodevelopmental disorders with high heritability. To search for the genetic deficits in two …

[HTML][HTML] Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism Spectrum Disorder

SI Nemirovsky, M Córdoba, JJ Zaiat, SP Completa… - PloS one, 2015 - journals.plos.org
Introduction Clinical genomics promise to be especially suitable for the study of etiologically
heterogeneous conditions such as Autism Spectrum Disorder (ASD). Here we present three …

[HTML][HTML] Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability

FR Zahir, JC Mwenifumbo, HJE Chun, EL Lim… - BMC genomics, 2017 - Springer
Abstract Background Intellectual Disability (ID) is among the most common global disorders,
yet etiology is unknown in~ 30% of patients despite clinical assessment. Whole genome …

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

C Redin, B Gérard, J Lauer, Y Herenger… - Journal of medical …, 2014 - jmg.bmj.com
Background Intellectual disability (ID) is characterised by an extreme genetic heterogeneity.
Several hundred genes have been associated to monogenic forms of ID, considerably …

[HTML][HTML] Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families

B Al-Mubarak, M Abouelhoda, A Omar, H AlDhalaan… - Scientific reports, 2017 - nature.com
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with genetic
and clinical heterogeneity. The interplay of de novo and inherited rare variants has been …

Meta‐analyses support previous and novel autism candidate genes: Outcomes of an unexplored Brazilian cohort

EM da Silva Montenegro, CS Costa… - Autism …, 2020 - Wiley Online Library
Large genomic databases of neurodevelopmental disorders (NDD) are helpful resources of
genomic variations in complex and heterogeneous conditions, as Autism Spectrum Disorder …

Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility

C Bi, J Wu, T Jiang, Q Liu, W Cai, P Yu, T Cai… - Human …, 2012 - Wiley Online Library
Autism spectrum disorders (ASDs) are common neurodevelopmental disorders with a strong
genetic etiology. However, due to the extreme genetic heterogeneity of ASDs, traditional …