[HTML][HTML] Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders
M Codina-Solà, B Rodríguez-Santiago, A Homs… - Molecular autism, 2015 - Springer
Background Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders
with high heritability. Recent findings support a highly heterogeneous and complex genetic …
with high heritability. Recent findings support a highly heterogeneous and complex genetic …
[PDF][PDF] De novo variants in CNOT1, a central component of the CCR4-NOT complex involved in gene expression and RNA and protein stability, cause …
LELM Vissers, S Kalvakuri, E de Boer, S Geuer… - The American Journal of …, 2020 - cell.com
CNOT1 is a member of the CCR4-NOT complex, which is a master regulator, orchestrating
gene expression, RNA deadenylation, and protein ubiquitination. We report on 39 …
gene expression, RNA deadenylation, and protein ubiquitination. We report on 39 …
[HTML][HTML] The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction
L Lenaerts, S Reynhout, I Verbinnen… - Genetics in …, 2021 - nature.com
Purpose Neurodevelopmental disorders (NDD) caused by protein phosphatase 2A (PP2A)
dysfunction have mainly been associated with de novo variants in PPP2R5D and PPP2CA …
dysfunction have mainly been associated with de novo variants in PPP2R5D and PPP2CA …
[HTML][HTML] Variability in Phelan-McDermid syndrome in a cohort of 210 individuals
J Nevado, S García-Miñaúr, M Palomares-Bralo… - Frontiers in …, 2022 - frontiersin.org
Phelan-McDermid syndrome (PMS, OMIM# 606232) results from either different
rearrangements at the distal region of the long arm of chromosome 22 (22q13. 3) or …
rearrangements at the distal region of the long arm of chromosome 22 (22q13. 3) or …
Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders
JH Thygesen, K Wolfe, A McQuillin… - The British Journal of …, 2018 - cambridge.org
BackgroundCopy number variants (CNVs) are established risk factors for
neurodevelopmental disorders. To date the study of CNVs in psychiatric illness has focused …
neurodevelopmental disorders. To date the study of CNVs in psychiatric illness has focused …
A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion
M Viñas‐Jornet, S Esteba‐Castillo… - Molecular genetics & …, 2014 - Wiley Online Library
Abstract Deletions in the 2p16. 3 region that includes the neurexin (NRXN1) gene are
associated with intellectual disability and various psychiatric disorders, in particular, autism …
associated with intellectual disability and various psychiatric disorders, in particular, autism …
[PDF][PDF] Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
F Tessadori, K Duran, K Knapp, M Fellner… - The American Journal of …, 2022 - cell.com
Chromatin is essentially an array of nucleosomes, each of which consists of the DNA double-
stranded fiber wrapped around a histone octamer. This organization supports cellular …
stranded fiber wrapped around a histone octamer. This organization supports cellular …
Microdeletion and microduplication 22q11. 2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome
A Brunet, E Gabau, RM Perich… - American Journal of …, 2006 - Wiley Online Library
Abstract The 22q11. 2 region is susceptible to chromosomal rearrangements, leading to
various types of congenital malformation and mental retardation. The most common …
various types of congenital malformation and mental retardation. The most common …
[HTML][HTML] High incidence of copy number variants in adults with intellectual disability and co-morbid psychiatric disorders
M Viñas-Jornet, S Esteba-Castillo, N Baena… - Behavior Genetics, 2018 - Springer
A genetic analysis of unexplained mild-moderate intellectual disability and co-morbid
psychiatric or behavioural disorders is not systematically conducted in adults. A cohort of …
psychiatric or behavioural disorders is not systematically conducted in adults. A cohort of …
[HTML][HTML] New genes involved in Angelman syndrome-like: expanding the genetic spectrum
C Aguilera, E Gabau, A Ramirez-Mallafré… - PLoS …, 2021 - journals.plos.org
Angelman syndrome (AS) is a neurogenetic disorder characterized by severe
developmental delay with absence of speech, happy disposition, frequent laughter …
developmental delay with absence of speech, happy disposition, frequent laughter …