<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Gulsuner, S</style></author><author><style face="normal" font="default" size="100%">Stein, D J</style></author><author><style face="normal" font="default" size="100%">Susser, E S</style></author><author><style face="normal" font="default" size="100%">Sibeko, G</style></author><author><style face="normal" font="default" size="100%">Pretorius, A</style></author><author><style face="normal" font="default" size="100%">Walsh, T</style></author><author><style face="normal" font="default" size="100%">Majara, L</style></author><author><style face="normal" font="default" size="100%">Mndini, M M</style></author><author><style face="normal" font="default" size="100%">Mqulwana, S G</style></author><author><style face="normal" font="default" size="100%">Ntola, O A</style></author><author><style face="normal" font="default" size="100%">Casadei, S</style></author><author><style face="normal" font="default" size="100%">Ngqengelele, L L</style></author><author><style face="normal" font="default" size="100%">Korchina, V</style></author><author><style face="normal" font="default" size="100%">van der Merwe, C</style></author><author><style face="normal" font="default" size="100%">Malan, M</style></author><author><style face="normal" font="default" size="100%">Fader, K M</style></author><author><style face="normal" font="default" size="100%">Feng, M</style></author><author><style face="normal" font="default" size="100%">Willoughby, E</style></author><author><style face="normal" font="default" size="100%">Muzny, D</style></author><author><style face="normal" font="default" size="100%">Baldinger, A</style></author><author><style face="normal" font="default" size="100%">Andrews, H F</style></author><author><style face="normal" font="default" size="100%">Gur, R C</style></author><author><style face="normal" font="default" size="100%">Gibbs, R A</style></author><author><style face="normal" font="default" size="100%">Zingela, Z</style></author><author><style face="normal" font="default" size="100%">Nagdee, M</style></author><author><style face="normal" font="default" size="100%">Ramesar, R S</style></author><author><style face="normal" font="default" size="100%">King, M-C</style></author><author><style face="normal" font="default" size="100%">McClellan, J M</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Genetics of schizophrenia in the South African Xhosa.</style></title><secondary-title><style face="normal" font="default" size="100%">Science</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Science</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Age Factors</style></keyword><keyword><style  face="normal" font="default" size="100%">Autistic Disorder</style></keyword><keyword><style  face="normal" font="default" size="100%">Bipolar Disorder</style></keyword><keyword><style  face="normal" font="default" size="100%">Dopamine</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">gamma-Aminobutyric Acid</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Variation</style></keyword><keyword><style  face="normal" font="default" size="100%">Glutamine</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Mutation</style></keyword><keyword><style  face="normal" font="default" size="100%">Neural Pathways</style></keyword><keyword><style  face="normal" font="default" size="100%">Schizophrenia</style></keyword><keyword><style  face="normal" font="default" size="100%">Sex Factors</style></keyword><keyword><style  face="normal" font="default" size="100%">South Africa</style></keyword><keyword><style  face="normal" font="default" size="100%">Synapses</style></keyword><keyword><style  face="normal" font="default" size="100%">Synaptic Transmission</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2020</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2020 01 31</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">367</style></volume><pages><style face="normal" font="default" size="100%">569-573</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Africa, the ancestral home of all modern humans, is the most informative continent for understanding the human genome and its contribution to complex disease. To better understand the genetics of schizophrenia, we studied the illness in the Xhosa population of South Africa, recruiting 909 cases and 917 age-, gender-, and residence-matched controls. Individuals with schizophrenia were significantly more likely than controls to harbor private, severely damaging mutations in genes that are critical to synaptic function, including neural circuitry mediated by the neurotransmitters glutamine, γ-aminobutyric acid, and dopamine. Schizophrenia is genetically highly heterogeneous, involving severe ultrarare mutations in genes that are critical to synaptic plasticity. The depth of genetic variation in Africa revealed this relationship with a moderate sample size and informed our understanding of the genetics of schizophrenia worldwide.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">6477</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/32001654?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Oliva, Meritxell</style></author><author><style face="normal" font="default" size="100%">Muñoz-Aguirre, Manuel</style></author><author><style face="normal" font="default" size="100%">Kim-Hellmuth, Sarah</style></author><author><style face="normal" font="default" size="100%">Wucher, Valentin</style></author><author><style face="normal" font="default" size="100%">Gewirtz, Ariel D H</style></author><author><style face="normal" font="default" size="100%">Cotter, Daniel J</style></author><author><style face="normal" font="default" size="100%">Parsana, Princy</style></author><author><style face="normal" font="default" size="100%">Kasela, Silva</style></author><author><style face="normal" font="default" size="100%">Balliu, Brunilda</style></author><author><style face="normal" font="default" size="100%">Viñuela, Ana</style></author><author><style face="normal" font="default" size="100%">Castel, Stephane E</style></author><author><style face="normal" font="default" size="100%">Mohammadi, Pejman</style></author><author><style face="normal" font="default" size="100%">Aguet, François</style></author><author><style face="normal" font="default" size="100%">Zou, Yuxin</style></author><author><style face="normal" font="default" size="100%">Khramtsova, Ekaterina A</style></author><author><style face="normal" font="default" size="100%">Skol, Andrew D</style></author><author><style face="normal" font="default" size="100%">Garrido-Martín, Diego</style></author><author><style face="normal" font="default" size="100%">Reverter, Ferran</style></author><author><style face="normal" font="default" size="100%">Brown, Andrew</style></author><author><style face="normal" font="default" size="100%">Evans, Patrick</style></author><author><style face="normal" font="default" size="100%">Gamazon, Eric R</style></author><author><style face="normal" font="default" size="100%">Payne, Anthony</style></author><author><style face="normal" font="default" size="100%">Bonazzola, Rodrigo</style></author><author><style face="normal" font="default" size="100%">Barbeira, Alvaro N</style></author><author><style face="normal" font="default" size="100%">Hamel, Andrew R</style></author><author><style face="normal" font="default" size="100%">Martinez-Perez, Angel</style></author><author><style face="normal" font="default" size="100%">Soria, José Manuel</style></author><author><style face="normal" font="default" size="100%">Pierce, Brandon L</style></author><author><style face="normal" font="default" size="100%">Stephens, Matthew</style></author><author><style face="normal" font="default" size="100%">Eskin, Eleazar</style></author><author><style face="normal" font="default" size="100%">Dermitzakis, Emmanouil T</style></author><author><style face="normal" font="default" size="100%">Segrè, Ayellet V</style></author><author><style face="normal" font="default" size="100%">Im, Hae Kyung</style></author><author><style face="normal" font="default" size="100%">Engelhardt, Barbara E</style></author><author><style face="normal" font="default" size="100%">Ardlie, Kristin G</style></author><author><style face="normal" font="default" size="100%">Montgomery, Stephen B</style></author><author><style face="normal" font="default" size="100%">Battle, Alexis J</style></author><author><style face="normal" font="default" size="100%">Lappalainen, Tuuli</style></author><author><style face="normal" font="default" size="100%">Guigo, Roderic</style></author><author><style face="normal" font="default" size="100%">Stranger, Barbara E</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">GTEx Consortium</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">The impact of sex on gene expression across human tissues.</style></title><secondary-title><style face="normal" font="default" size="100%">Science</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Science</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Chromosomes, Human, X</style></keyword><keyword><style  face="normal" font="default" size="100%">Disease</style></keyword><keyword><style  face="normal" font="default" size="100%">Epigenesis, Genetic</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Expression</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Expression Regulation</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Variation</style></keyword><keyword><style  face="normal" font="default" size="100%">Genome-Wide Association Study</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Organ Specificity</style></keyword><keyword><style  face="normal" font="default" size="100%">Promoter Regions, Genetic</style></keyword><keyword><style  face="normal" font="default" size="100%">Quantitative Trait Loci</style></keyword><keyword><style  face="normal" font="default" size="100%">Sex Characteristics</style></keyword><keyword><style  face="normal" font="default" size="100%">Sex Factors</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2020</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2020 09 11</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">369</style></volume><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Many complex human phenotypes exhibit sex-differentiated characteristics. However, the molecular mechanisms underlying these differences remain largely unknown. We generated a catalog of sex differences in gene expression and in the genetic regulation of gene expression across 44 human tissue sources surveyed by the Genotype-Tissue Expression project (GTEx, v8 release). We demonstrate that sex influences gene expression levels and cellular composition of tissue samples across the human body. A total of 37% of all genes exhibit sex-biased expression in at least one tissue. We identify cis expression quantitative trait loci (eQTLs) with sex-differentiated effects and characterize their cellular origin. By integrating sex-biased eQTLs with genome-wide association study data, we identify 58 gene-trait associations that are driven by genetic regulation of gene expression in a single sex. These findings provide an extensive characterization of sex differences in the human transcriptome and its genetic regulation.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">6509</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/32913072?dopt=Abstract</style></custom1></record><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Satterstrom, F Kyle</style></author><author><style face="normal" font="default" size="100%">Kosmicki, Jack A</style></author><author><style face="normal" font="default" size="100%">Wang, Jiebiao</style></author><author><style face="normal" font="default" size="100%">Breen, Michael S</style></author><author><style face="normal" font="default" size="100%">De Rubeis, Silvia</style></author><author><style face="normal" font="default" size="100%">An, Joon-Yong</style></author><author><style face="normal" font="default" size="100%">Peng, Minshi</style></author><author><style face="normal" font="default" size="100%">Collins, Ryan</style></author><author><style face="normal" font="default" size="100%">Grove, Jakob</style></author><author><style face="normal" font="default" size="100%">Klei, Lambertus</style></author><author><style face="normal" font="default" size="100%">Stevens, Christine</style></author><author><style face="normal" font="default" size="100%">Reichert, Jennifer</style></author><author><style face="normal" font="default" size="100%">Mulhern, Maureen S</style></author><author><style face="normal" font="default" size="100%">Artomov, Mykyta</style></author><author><style face="normal" font="default" size="100%">Gerges, Sherif</style></author><author><style face="normal" font="default" size="100%">Sheppard, Brooke</style></author><author><style face="normal" font="default" size="100%">Xu, Xinyi</style></author><author><style face="normal" font="default" size="100%">Bhaduri, Aparna</style></author><author><style face="normal" font="default" size="100%">Norman, Utku</style></author><author><style face="normal" font="default" size="100%">Brand, Harrison</style></author><author><style face="normal" font="default" size="100%">Schwartz, Grace</style></author><author><style face="normal" font="default" size="100%">Nguyen, Rachel</style></author><author><style face="normal" font="default" size="100%">Guerrero, Elizabeth E</style></author><author><style face="normal" font="default" size="100%">Dias, Caroline</style></author><author><style face="normal" font="default" size="100%">Betancur, Catalina</style></author><author><style face="normal" font="default" size="100%">Cook, Edwin H</style></author><author><style face="normal" font="default" size="100%">Gallagher, Louise</style></author><author><style face="normal" font="default" size="100%">Gill, Michael</style></author><author><style face="normal" font="default" size="100%">Sutcliffe, James S</style></author><author><style face="normal" font="default" size="100%">Thurm, Audrey</style></author><author><style face="normal" font="default" size="100%">Zwick, Michael E</style></author><author><style face="normal" font="default" size="100%">Børglum, Anders D</style></author><author><style face="normal" font="default" size="100%">State, Matthew W</style></author><author><style face="normal" font="default" size="100%">Cicek, A Ercument</style></author><author><style face="normal" font="default" size="100%">Talkowski, Michael E</style></author><author><style face="normal" font="default" size="100%">Cutler, David J</style></author><author><style face="normal" font="default" size="100%">Devlin, Bernie</style></author><author><style face="normal" font="default" size="100%">Sanders, Stephan J</style></author><author><style face="normal" font="default" size="100%">Roeder, Kathryn</style></author><author><style face="normal" font="default" size="100%">Daly, Mark J</style></author><author><style face="normal" font="default" size="100%">Buxbaum, Joseph D</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">Autism Sequencing Consortium</style></author><author><style face="normal" font="default" size="100%">iPSYCH-Broad Consortium</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.</style></title><secondary-title><style face="normal" font="default" size="100%">Cell</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Cell</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Autistic Disorder</style></keyword><keyword><style  face="normal" font="default" size="100%">Case-Control Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Cell Lineage</style></keyword><keyword><style  face="normal" font="default" size="100%">Cerebral Cortex</style></keyword><keyword><style  face="normal" font="default" size="100%">Cohort Studies</style></keyword><keyword><style  face="normal" font="default" size="100%">Exome</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Expression Regulation, Developmental</style></keyword><keyword><style  face="normal" font="default" size="100%">Gene Frequency</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Predisposition to Disease</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Mutation, Missense</style></keyword><keyword><style  face="normal" font="default" size="100%">Neurobiology</style></keyword><keyword><style  face="normal" font="default" size="100%">Neurons</style></keyword><keyword><style  face="normal" font="default" size="100%">Phenotype</style></keyword><keyword><style  face="normal" font="default" size="100%">Sex Factors</style></keyword><keyword><style  face="normal" font="default" size="100%">Single-Cell Analysis</style></keyword><keyword><style  face="normal" font="default" size="100%">Whole Exome Sequencing</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2020</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2020 02 06</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">180</style></volume><pages><style face="normal" font="default" size="100%">568-584.e23</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n = 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to integrate de novo and case-control rare variation, we identify 102 risk genes at a false discovery rate of 0.1 or less. Of these genes, 49 show higher frequencies of disruptive de novo variants in individuals ascertained to have severe neurodevelopmental delay, whereas 53 show higher frequencies in individuals ascertained to have ASD; comparing ASD cases with mutations in these groups reveals phenotypic differences. Expressed early in brain development, most risk genes have roles in regulation of gene expression or neuronal communication (i.e., mutations effect neurodevelopmental and neurophysiological changes), and 13 fall within loci recurrently hit by copy number variants. In cells from the human cortex, expression of risk genes is enriched in excitatory and inhibitory neuronal lineages, consistent with multiple paths to an excitatory-inhibitory imbalance underlying ASD.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">3</style></issue><custom1><style face="normal" font="default" size="100%">https://www.ncbi.nlm.nih.gov/pubmed/31981491?dopt=Abstract</style></custom1></record></records></xml>