@article {108,
	title = {Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression.},
	journal = {Genes (Basel)},
	volume = {11},
	year = {2020},
	month = {2020 07 25},
	abstract = {<p>Approximately 30\% of individuals with autism spectrum disorder (ASD) experience developmental regression, the etiology of which remains largely unknown. We performed a complete literature search and identified 47 genes that had been implicated in such cases. We sequenced these genes in a preselected cohort of 134 individuals with regressive autism. In total, 16 variants in 12 genes with evidence supportive of pathogenicity were identified. They were classified as variants of uncertain significance based on ACMG standards and guidelines. Among these were recurring variants in  and , variants in genes that were linked to syndromic forms of ASD (, , , , , and ), and variants in the form of oligogenic heterozygosity (, , and ).</p>},
	keywords = {Autism Spectrum Disorder, Child, Child, Preschool, Cohort Studies, Disease Progression, Female, Gene Expression Regulation, Genetic Markers, Genetic Predisposition to Disease, High-Throughput Nucleotide Sequencing, Humans, Infant, Male, Mutation},
	issn = {2073-4425},
	doi = {10.3390/genes11080853},
	author = {Yin, Jiani and Chun, Chun-An and Zavadenko, Nikolay N and Pechatnikova, Natalia L and Naumova, Oxana Yu and Doddapaneni, Harsha V and Hu, Jianhong and Muzny, Donna M and Schaaf, Christian P and Grigorenko, Elena L}
}
@article {14,
	title = {Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.},
	journal = {Nat Genet},
	volume = {49},
	year = {2017},
	month = {2017 Apr},
	pages = {527-536},
	abstract = {<p>Gain-of-function mutations in some genes underlie neurodegenerative conditions, whereas loss-of-function mutations in the same genes have distinct phenotypes. This appears to be the case with the protein ataxin 1 (ATXN1), which forms a transcriptional repressor complex with capicua (CIC). Gain of function of the complex leads to neurodegeneration, but ATXN1-CIC is also essential for survival. We set out to understand the functions of the ATXN1-CIC complex in the developing forebrain and found that losing this complex results in hyperactivity, impaired learning and memory, and abnormal maturation and maintenance of upper-layer cortical neurons. We also found that CIC activity in the hypothalamus and medial amygdala modulates social interactions. Informed by these neurobehavioral features in mouse mutants, we identified five individuals with de novo heterozygous truncating mutations in CIC who share similar clinical features, including intellectual disability, attention deficit/hyperactivity disorder (ADHD), and autism spectrum disorder. Our study demonstrates that loss of ATXN1-CIC complexes causes a spectrum of neurobehavioral phenotypes.</p>},
	keywords = {Animals, Ataxin-1, Autism Spectrum Disorder, Cerebellum, Female, Humans, Intellectual Disability, Interpersonal Relations, Male, Mice, Nerve Tissue Proteins, Neurodegenerative Diseases, Nuclear Proteins, Phenotype, Repressor Proteins},
	issn = {1546-1718},
	doi = {10.1038/ng.3808},
	author = {Lu, Hsiang-Chih and Tan, Qiumin and Rousseaux, Maxime W C and Wang, Wei and Kim, Ji-Yoen and Richman, Ronald and Wan, Ying-Wooi and Yeh, Szu-Ying and Patel, Jay M and Liu, Xiuyun and Lin, Tao and Lee, Yoontae and Fryer, John D and Han, Jing and Chahrour, Maria and Finnell, Richard H and Lei, Yunping and Zurita-Jimenez, Maria E and Ahimaz, Priyanka and Anyane-Yeboa, Kwame and Van Maldergem, Lionel and Lehalle, Daphne and Jean-Marcais, Nolwenn and Mosca-Boidron, Anne-Laure and Thevenon, Julien and Cousin, Margot A and Bro, Della E and Lanpher, Brendan C and Klee, Eric W and Alexander, Nora and Bainbridge, Matthew N and Orr, Harry T and Sillitoe, Roy V and Ljungberg, M Cecilia and Liu, Zhandong and Schaaf, Christian P and Zoghbi, Huda Y}
}
