WWOX loss of function in neurodevelopmental and neurodegenerative disorders
The WWOX gene was initially discovered as a putative tumor suppressor. More recently, its
association with multiple central nervous system (CNS) pathologies has been recognized …
association with multiple central nervous system (CNS) pathologies has been recognized …
The neurodevelopmental spectrum of synaptic vesicle cycling disorders
A John, E Ng‐Cordell, N Hanna… - Journal of …, 2021 - Wiley Online Library
In this review, we describe and discuss neurodevelopmental phenotypes arising from rare,
high penetrance genomic variants which directly influence synaptic vesicle cycling (SVC …
high penetrance genomic variants which directly influence synaptic vesicle cycling (SVC …
Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study
Background Autism spectrum disorder (ASD) is a neurodevelopmental condition
characterized by impaired social and communication skills, restricted interests, and …
characterized by impaired social and communication skills, restricted interests, and …
Population-based genetic effects for developmental stuttering
Despite a lifetime prevalence of at least 5%, developmental stuttering, characterized by
prolongations, blocks, and repetitions of speech sounds, remains a largely idiopathic …
prolongations, blocks, and repetitions of speech sounds, remains a largely idiopathic …
Monogenic forms of DSD: An update
K McElreavey, A Bashamboo - Hormone Research in Paediatrics, 2023 - karger.com
Background: DSD encompass a wide range of pathologies that impact gonad formation,
development, and function in both 46, XX and 46, XY individuals. The majority of these …
development, and function in both 46, XX and 46, XY individuals. The majority of these …
Oromotor skills in autism spectrum disorder: A scoping review
Oromotor functioning plays a foundational role in spoken communication and feeding, two
areas of significant difficulty for many autistic individuals. However, despite years of research …
areas of significant difficulty for many autistic individuals. However, despite years of research …
Neurological disorders associated with WWOX germline mutations—a comprehensive overview
The transcriptional regulator WW domain-containing oxidoreductase (WWOX) is a key
player in a number of cellular and biological processes including tumor suppression. Recent …
player in a number of cellular and biological processes including tumor suppression. Recent …
Whole exome sequencing identifies ABHD14A and MRNIP as novel candidate genes for developmental language disorder
Developmental language disorder (DLD) is a neurodevelopmental disorder involving
impaired language abilities. Its genetic etiology is heterogeneous, involving rare variations …
impaired language abilities. Its genetic etiology is heterogeneous, involving rare variations …
Homeostatic plasticity fails at the intersection of autism-gene mutations and a novel class of common genetic modifiers
We identify a set of common phenotypic modifiers that interact with five independent autism
gene orthologs (RIMS1, CHD8, CHD2, WDFY3, ASH1L) causing a common failure of …
gene orthologs (RIMS1, CHD8, CHD2, WDFY3, ASH1L) causing a common failure of …
Three children with different de novo BCL11A variants and diverse developmental phenotypes, but shared global motor discoordination and apraxic speech …
BCL11A is implicated in BCL11A‐Related Intellectual Development Disorder (BCL11A‐
IDD). Previously reported cases had various types of BCL11A variants (copy‐number …
IDD). Previously reported cases had various types of BCL11A variants (copy‐number …