Unifying views of autism spectrum disorders: a consideration of autoregulatory feedback loops

C Mullins, G Fishell, RW Tsien - Neuron, 2016 - cell.com
Understanding the mechanisms underlying autism spectrum disorders (ASDs) is a
challenging goal. Here we review recent progress on several fronts, including genetics …

Neocortical neurogenesis and the etiology of autism spectrum disorder

A Packer - Neuroscience & Biobehavioral Reviews, 2016 - Elsevier
Researchers have now identified many highly penetrant genetic risk factors for autism
spectrum disorder (ASD). Some of these genes encode synaptic proteins, lending support to …

[HTML][HTML] Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease

E Karaca, T Harel, D Pehlivan, SN Jhangiani… - Neuron, 2015 - cell.com
Development of the human nervous system involves complex interactions among
fundamental cellular processes and requires a multitude of genes, many of which remain to …

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

SE Soden, CJ Saunders, LK Willig, EG Farrow… - Science translational …, 2014 - science.org
Neurodevelopmental disorders (NDDs) affect more than 3% of children and are attributable
to single-gene mutations at more than 1000 loci. Traditional methods yield molecular …

Fetal exposure to valproic acid dysregulates the expression of autism-linked genes in the developing cerebellum

M Guerra, V Medici, R Weatheritt, V Corvino… - Translational …, 2023 - nature.com
Autism spectrum disorder (ASD) includes a set of highly heritable neurodevelopmental
syndromes characterized by social and communication impairment, repetitive behaviour …

Polycomb-dependent histone H2A ubiquitination links developmental disorders with cancer

S Tamburri, E Conway, D Pasini - Trends in Genetics, 2022 - cell.com
Cell identity is tightly controlled by specific transcriptional programs which require post-
translational modifications of histones. These histone modifications allow the establishment …

De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge–Ropers syndrome

A Srivastava, KC Ritesh, YC Tsan, R Liao… - Human molecular …, 2016 - academic.oup.com
De novo truncating mutations in Additional sex combs-like 3 (ASXL3) have been identified in
individuals with Bainbridge–Ropers syndrome (BRS), characterized by failure to thrive …

The role of additional sex combs-like proteins in cancer

JB Micol, O Abdel-Wahab - Cold Spring …, 2016 - perspectivesinmedicine.cshlp.org
Additional sex combs-like (ASXL) proteins are mammalian homologs of Addition of sex
combs (Asx), a protein that regulates the balance of trithorax and Polycomb function in …

Congenital microcephaly: a debate on diagnostic challenges and etiological paradigm of the shift from isolated/non-syndromic to syndromic microcephaly

M Asif, U Abdullah, P Nürnberg, S Tinschert… - Cells, 2023 - mdpi.com
Congenital microcephaly (CM) exhibits broad clinical and genetic heterogeneity and is thus
categorized into several subtypes. However, the recent bloom of disease–gene discoveries …

Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of …

M Balasubramanian, J Willoughby, AE Fry… - Journal of medical …, 2017 - jmg.bmj.com
Background Bainbridge-Ropers syndrome (BRPS) is a recently described developmental
disorder caused by de novo truncating mutations in the additional sex combs like 3 (ASXL3) …