Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases
Individuals with autism spectrum disorder (ASD) exhibit an increased burden of de novo mutations (DNMs) in a broadening range of genes. While these studies have implicated hundreds of genes in ASD pathogenesis, which DNMs cause functional consequences in vivo remains unclear. We functionally test th...
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| Published in | Cell reports (Cambridge) Vol. 38; no. 11; p. 110517 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Elsevier Inc
15.03.2022
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| Subjects | |
| Online Access | Get full text |
| ISSN | 2211-1247 2211-1247 |
| DOI | 10.1016/j.celrep.2022.110517 |
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| Abstract | Individuals with autism spectrum disorder (ASD) exhibit an increased burden of de novo mutations (DNMs) in a broadening range of genes. While these studies have implicated hundreds of genes in ASD pathogenesis, which DNMs cause functional consequences in vivo remains unclear. We functionally test the effects of ASD missense DNMs using Drosophila through “humanization” rescue and overexpression-based strategies. We examine 79 ASD variants in 74 genes identified in the Simons Simplex Collection and find 38% of them to cause functional alterations. Moreover, we identify GLRA2 as the cause of a spectrum of neurodevelopmental phenotypes beyond ASD in 13 previously undiagnosed subjects. Functional characterization of variants in ASD candidate genes points to conserved neurobiological mechanisms and facilitates gene discovery for rare neurodevelopmental diseases.
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•We generate and characterize >300 (TG4 and cDNA) Drosophila mutants and transgenics•Humanization and overexpression strategies to functionally assess ASD variants in vivo•ASD variant data in flies help identify GLRA2-related neurodevelopmental disorders•Basic and clinical collaboration facilitates variant testing and disease gene discovery
Marcogliese et al. generate >300 Drosophila mutants and use complementary rescue-based and overexpression approaches to study the function of de novo missense variants found in autism. They find that 38% of missense changes have functional consequences and identify variants in GLRA2 that cause a variable neurological disorder. |
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| AbstractList | Individuals with autism spectrum disorder (ASD) exhibit an increased burden of de novo mutations (DNMs) in a broadening range of genes. While these studies have implicated hundreds of genes in ASD pathogenesis, which DNMs cause functional consequences in vivo remains unclear. We functionally test the effects of ASD missense DNMs using Drosophila through “humanization” rescue and overexpression-based strategies. We examine 79 ASD variants in 74 genes identified in the Simons Simplex Collection and find 38% of them to cause functional alterations. Moreover, we identify GLRA2 as the cause of a spectrum of neurodevelopmental phenotypes beyond ASD in 13 previously undiagnosed subjects. Functional characterization of variants in ASD candidate genes points to conserved neurobiological mechanisms and facilitates gene discovery for rare neurodevelopmental diseases.
Marcogliese et al. generate >300 Drosophila mutants and use complementary rescue-based and overexpression approaches to study the function of de novo missense variants found in autism. They find that 38% of missense changes have functional consequences and identify variants in GLRA2 that cause a variable neurological disorder. Individuals with autism spectrum disorder (ASD) exhibit an increased burden of de novo mutations (DNMs) in a broadening range of genes. While these studies have implicated hundreds of genes in ASD pathogenesis, which DNMs cause functional consequences in vivo remains unclear. We functionally test the effects of ASD missense DNMs using Drosophila through "humanization" rescue and overexpression-based strategies. We examine 79 ASD variants in 74 genes identified in the Simons Simplex Collection and find 38% of them to cause functional alterations. Moreover, we identify GLRA2 as the cause of a spectrum of neurodevelopmental phenotypes beyond ASD in 13 previously undiagnosed subjects. Functional characterization of variants in ASD candidate genes points to conserved neurobiological mechanisms and facilitates gene discovery for rare neurodevelopmental diseases. Individuals with autism spectrum disorder (ASD) exhibit an increased burden of de novo mutations (DNMs) in a broadening range of genes. While these studies have implicated hundreds of genes in ASD pathogenesis, which DNMs cause functional consequences in vivo remains unclear. We functionally test the effects of ASD missense DNMs using Drosophila through "humanization" rescue and overexpression-based strategies. We examine 79 ASD variants in 74 genes identified in the Simons Simplex Collection and find 38% of them to cause functional alterations. Moreover, we identify GLRA2 as the cause of a spectrum of neurodevelopmental phenotypes beyond ASD in 13 previously undiagnosed subjects. Functional characterization of variants in ASD candidate genes points to conserved neurobiological mechanisms and facilitates gene discovery for rare neurodevelopmental diseases.Individuals with autism spectrum disorder (ASD) exhibit an increased burden of de novo mutations (DNMs) in a broadening range of genes. While these studies have implicated hundreds of genes in ASD pathogenesis, which DNMs cause functional consequences in vivo remains unclear. We functionally test the effects of ASD missense DNMs using Drosophila through "humanization" rescue and overexpression-based strategies. We examine 79 ASD variants in 74 genes identified in the Simons Simplex Collection and find 38% of them to cause functional alterations. Moreover, we identify GLRA2 as the cause of a spectrum of neurodevelopmental phenotypes beyond ASD in 13 previously undiagnosed subjects. Functional characterization of variants in ASD candidate genes points to conserved neurobiological mechanisms and facilitates gene discovery for rare neurodevelopmental diseases. Individuals with autism spectrum disorder (ASD) exhibit an increased burden of de novo mutations (DNMs) in a broadening range of genes. While these studies have implicated hundreds of genes in ASD pathogenesis, which DNMs cause functional consequences in vivo remains unclear. We functionally test the effects of ASD missense DNMs using Drosophila through “humanization” rescue and overexpression-based strategies. We examine 79 ASD variants in 74 genes identified in the Simons Simplex Collection and find 38% of them to cause functional alterations. Moreover, we identify GLRA2 as the cause of a spectrum of neurodevelopmental phenotypes beyond ASD in 13 previously undiagnosed subjects. Functional characterization of variants in ASD candidate genes points to conserved neurobiological mechanisms and facilitates gene discovery for rare neurodevelopmental diseases. [Display omitted] •We generate and characterize >300 (TG4 and cDNA) Drosophila mutants and transgenics•Humanization and overexpression strategies to functionally assess ASD variants in vivo•ASD variant data in flies help identify GLRA2-related neurodevelopmental disorders•Basic and clinical collaboration facilitates variant testing and disease gene discovery Marcogliese et al. generate >300 Drosophila mutants and use complementary rescue-based and overexpression approaches to study the function of de novo missense variants found in autism. They find that 38% of missense changes have functional consequences and identify variants in GLRA2 that cause a variable neurological disorder. |
| ArticleNumber | 110517 |
| Author | Brusco, Alfredo Sukarova-Angelovska, Elena Lee, Pei-Tseng Chao, Hsiao-Tuan Rosenhahn, Erik Courtin, Thomas Brugger, Melanie Yamamoto, Shinya Wangler, Michael F. Jangam, Sharayu Bhadane, Pradnya Vetro, Annalisa Liu, Ning Keren, Boris Rosenfeld, Jill A. Rossetti, Linda Z. Leiz, Steffen Bei, Danqing Pan, Hongling Platzer, Konrad Bhavana, V. Hemanjani Murali, Chaya N. Fehr, Sarah Kanca, Oguz German, Ryan J. Brownstein, Catherine A. Gerard, Amanda Agrawal, Pankaj B. van Slegtenhorst, Marjon Sabatier, Isabelle Marom, Ronit Roser, Timo Marcogliese, Paul C. Barakat, Tahsin Stefan van Dooren, Marieke F. Keller, Roberto Mau-Them, Frederic Tran Strehlow, Vincent Schwaibold, Eva Maria Christina Delanne, Julian Andrews, Jonathan Huang, Mei-Chu Wilke, Martina Lesca, Gaetan Trajkova, Slavica Chao, Yu-Hsin Longley, Colleen M. Madden, Jill A. Haelterman, Nele A. Luo, Xi England, Eleina Graves, Hillary K. Chatron, Nicolas Hull, Brooke Pavinato, Lisa Deal, Samantha L. Perrin, Laurence Guerrini, Renzo Harnish, J. Michael Chung, Hyung-lok Manivannan, Sathiya N. |
| AuthorAffiliation | 37 These authors contributed equally 4 Department of Pediatrics, Division of Hematology/Oncology, BCM, Houston, TX 77030, USA 18 Department of Pediatric Neurology, Lyon University Hospitals, Lyon, France 7 McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, TX 77030, USA 9 Development, Disease Models & Therapeutics Graduate Program, BCM, Houston, TX 77030, USA 30 Department of Endocrinology and Genetics, University Clinic for Children’s Diseases, Medical Faculty, University Sv. Kiril i Metodij, Skopje, Republic of Macedonia 15 Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands 14 The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA 24 Genetic Department, Robert Debré Hospital, APHP.Nord-Université de Paris, Paris 75019, France 3 Program in Developmental Biology, BCM, Houston, TX 77030, USA 28 INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21000 Dijon, France 6 Department of Neuroscience, BCM, Houston, TX 77030 |
| AuthorAffiliation_xml | – name: 1 Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA – name: 7 McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, TX 77030, USA – name: 25 Institute of Human Genetics, Technical University Munich, Munich, Germany – name: 5 Department of Pediatrics, Division of Neurology and Developmental Neuroscience, BCM, Houston, TX 77030, USA – name: 18 Department of Pediatric Neurology, Lyon University Hospitals, Lyon, France – name: 34 Institute of Human Genetics and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany – name: 10 Howard Hughes Medical Institute, Houston, TX 77030, USA – name: 11 Institute of Human Genetics, Heidelberg University, Heidelberg, Germany – name: 24 Genetic Department, Robert Debré Hospital, APHP.Nord-Université de Paris, Paris 75019, France – name: 19 Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA 02115, USA – name: 29 Laboratoire de Génétique, Innovation en Diagnostic Génomique des Maladies Rares UF6254, Plateau Technique de Biologie, CHU Dijon, 14 Rue Paul Gaffarel, BP 77908, 21079 Dijon, France – name: 6 Department of Neuroscience, BCM, Houston, TX 77030, USA – name: 22 Division of Newborn Medicine, Boston Children’s Hospital, Boston, MA 02115, USA – name: 31 Department of Medical Sciences, University of Torino, Turin, Italy – name: 33 Adult Autism Center, Mental Health Department, Health Unit ASL Città di Torino, Turin, Italy – name: 38 Lead contact – name: 20 The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Boston, MA 02115, USA – name: 15 Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands – name: 35 Medical Genetics Unit, Città della Salute e della Scienza, University Hospital, Turin, Italy – name: 8 TCH, Houston, TX 77030, USA – name: 4 Department of Pediatrics, Division of Hematology/Oncology, BCM, Houston, TX 77030, USA – name: 12 Praxis für Humangenetik Tübingen, Tübingen, Germany – name: 37 These authors contributed equally – name: 36 Baylor Genetics Laboratories, Houston, TX 77021, USA – name: 13 Neuroscience Department, Children’s Hospital Meyer-University of Florence, Florence, Italy – name: 21 Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA – name: 26 Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children’s Hospital, Ludwig-Maximilians-University, Lindwurmstraße 4, 80337 Munich, Germany – name: 3 Program in Developmental Biology, BCM, Houston, TX 77030, USA – name: 27 Department of Pediatrics and Adolescent Medicine, Hospital Dritter Orden, Munich, Germany – name: 32 Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany – name: 28 INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21000 Dijon, France – name: 23 Genetic Department, Pitié-Salpêtrière Hospital, APHP.Sorbonne Université, Paris 75013, France – name: 2 Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital (TCH), Houston, TX 77030, USA – name: 16 Department of Medical Genetics, Lyon University Hospital, Université Claude Bernard Lyon 1, Lyon, France – name: 9 Development, Disease Models & Therapeutics Graduate Program, BCM, Houston, TX 77030, USA – name: 17 Institut NeuroMyoGène, CNRS UMR 5310 - INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France – name: 30 Department of Endocrinology and Genetics, University Clinic for Children’s Diseases, Medical Faculty, University Sv. Kiril i Metodij, Skopje, Republic of Macedonia – name: 14 The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/35294868$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1038/s41467-020-15943-0 10.1016/j.ajhg.2015.06.009 10.1038/ncomms10500 10.1038/nn.4524 10.3389/fgene.2018.00700 10.1038/nprot.2015.123 10.1371/journal.pone.0021800 10.1038/nmeth0410-248 10.1016/j.ajhg.2018.07.006 10.1038/nature13908 10.1093/hmg/ddy146 10.1016/j.ajhg.2019.09.013 10.1093/hmg/ddz135 10.1093/hmg/ddaa078 10.1038/nature13772 10.1016/j.celrep.2017.12.074 10.1016/j.str.2016.11.012 10.2466/10.25.PMS.116.1.197-209 10.1371/journal.pbio.1001438 10.1128/MCB.00130-06 10.1101/gr.095976.109 10.1016/j.ajhg.2019.06.014 10.1371/journal.pone.0008793 10.1242/dev.127.18.3971 10.1172/JCI37934 10.7554/eLife.49388 10.1038/s41436-021-01216-8 10.1016/S0896-6273(03)00644-5 10.1016/j.devcel.2007.12.009 10.1242/dev.191411 10.1038/nature10945 10.1002/humu.21517 10.1038/s41588-018-0130-z 10.7554/eLife.02951 10.1038/nmeth.1662 10.1016/j.neuron.2005.02.029 10.1523/JNEUROSCI.0359-09.2009 10.1016/j.ajhg.2016.08.007 10.1038/s41588-018-0288-4 10.1073/pnas.1417864112 10.1038/gim.2015.30 10.3389/fnmol.2017.00158 10.1016/j.ajhg.2017.01.004 10.1073/pnas.0611511104 10.1038/75556 10.1242/dev.069328 10.1038/nature09146 10.1007/s00401-019-02109-6 10.1038/s41586-020-2308-7 10.1016/j.neuron.2020.02.021 10.1007/s00018-017-2622-x 10.1093/nar/gky1151 10.1146/annurev-immunol-032414-112212 10.1186/1471-2105-12-357 10.1016/j.celrep.2015.01.059 10.7554/eLife.35574 10.7554/eLife.05338 10.1016/j.ajhg.2021.06.019 10.1101/gr.107524.110 10.1038/nature21062 10.1016/j.ymgme.2016.01.007 10.1038/nature19057 10.1093/nar/gkv113 10.1038/ng.3703 10.1016/j.neuron.2010.10.006 10.1056/NEJMoa1714458 10.1016/j.celrep.2019.03.101 10.1038/s41467-019-12435-8 10.1371/journal.pone.0077904 10.1016/j.cell.2019.12.036 10.1038/ng.2892 10.1016/j.ydbio.2006.09.035 10.1111/cge.13946 10.1038/ng.806 10.1002/humu.22844 10.1126/science.1134426 10.1038/nature14853 10.1038/nmeth.2281 10.1016/j.ajhg.2017.04.010 10.1212/NXG.0000000000000387 10.1093/nar/gky1004 10.1016/j.cell.2019.01.015 |
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| Keywords | TG4 GLRA2 humanization GluClalpha undiagnosed diseases functional genomics rare genetic diseases autism spectrum disorder T2A-GAL4 Drosophila melanogaster missense variants |
| Language | English |
| License | This is an open access article under the CC BY-NC-ND license. Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
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| Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 AUTHOR CONTRIBUTIONS M.F.W. and S.Y. conceived and designed the project. P.C.M., J.A., S.L.D., and J.M.H. designed and conducted most fly experiments and analyzed the data. V.H.B. and Y.-H.C. performed cloning and mutagenesis. H.K.G. performed cloning and coordination. S.J. performed immunostaining and confocal microscopy. X.L. performed structural analysis and generated reagents. N.L., D.B., Y.-H.C., P.L., B.H., H.P., P.B., M.-C.H., C.M.L., H.-T.C., H.C., N.A.H., O.K., and S.N.M. contributed to reagent generation and some fly experiments. R.M., A.G., E.M., C.S., S.F., R.G., A.V., E.E., C.N.M., T.S.B., M.F.v.D., M.W., M.v.S., G.L., I.S., N.C., C.A.B., J.A.M., P.B.A., B.K., T.C., L. Perrin, M.B., T.R., S.L., F.T.M.-T., J.D., E.S.-A., S.T., E.R., V.S., K.P., R.K., L. Pavinato, and A.B. reported and described GLRA2 subjects. L.Z.R., R.J.G., and J.A.R. aided in subject matchmaking and collection and organization of patient data. P.C.M., J.A., S.L.D., J.M.H., R.M., M.F.W., and S.Y. wrote and revised the manuscript. |
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| References | Link, Bellen (bib44) 2020; 147 Liu (bib45) 2013; 116 Zhang, Ho, Harvey, Lynch, Keramidas (bib87) 2017; 10 Brunet, Jech, Brugger, Kovacs, Alhaddad, Leszinski, Riedhammer, Westphal, Mahle, Mayerhanser (bib9) 2021; 100 Hu, Flockhart, Vinayagam, Bergwitz, Berger, Perrimon, Mohr (bib30) 2011; 12 Sobreira, Schiettecatte, Valle, Hamosh (bib66) 2015; 36 Burley, Berman, Bhikadiya, Bi, Chen, Costanzo, Christie, Dalenberg, Duarte, Dutta (bib10) 2019; 47 Richards, Aziz, Bale, Bick, Das, Gastier-Foster, Grody, Hegde, Lyon, Spector (bib60) 2015; 17 Adzhubei, Schmidt, Peshkin, Ramensky, Gerasimova, Bork, Kondrashov, Sunyaev (bib1) 2010; 7 (bib68) 2017; 542 Kanca, Andrews, Lee, Patel, Braddock, Slavotinek, Cohen, Gubbels, Aldinger, Williams (bib35) 2019; 105 de Velasco, Erclik, Shy, Sclafani, Lipshitz, McInnes, Hartenstein (bib76) 2007; 302 Li, Wang (bib43) 2017; 100 Verstreken, Koh, Schulze, Zhai, Hiesinger, Zhou, Mehta, Cao, Roos, Bellen (bib79) 2003; 40 Yuen, Merico, Bookman, Howe, Thiruvahindrapuram, Patel, Whitney, Deflaux, Bingham, Wang (bib85) 2017; 20 Levitt, Campbell (bib42) 2009; 119 (bib5) 2013 Bischof, Maeda, Hediger, Karch, Basler (bib8) 2007; 104 Sullivan, Geschwind (bib69) 2019; 177 Mehta, Hiesinger, Beronja, Zhai, Schulze, Verstreken, Cao, Zhou, Tepass, Crair (bib52) 2005; 46 Chung, Wangler, Marcogliese, Jo, Ravenscroft, Zuo, Duraine, Sadeghzadeh, Li-Kroeger, Schmidt (bib14) 2020; 106 Tang, Ehrlich, Wolff, Michalski, Wölfl, Hasan, Lüthi, Sprengel (bib72) 2009; 29 Splinter, Adams, Bacino, Bellen, Bernstein, Cheatle-Jarvela, Eng, Esteves, Gahl, Hamid (bib67) 2018; 379 Eyjolfsdottir, Branson, Burgos-Artizzu, Hoopfer, Schor, Anderson, Perona (bib21) 2014 Gahl, Mulvihill, Toro, Markello, Wise, Ramoni, Adams, Tifft (bib24) 2016; 117 Post, Belmadani, Ganguly, Meili, Dingwall, McDiarmid, Meyers, Herrington, Young, Callaghan (bib58) 2020; 11 Simon, Dickinson (bib65) 2010; 5 Takata, Miyake, Tsurusaki, Fukai, Miyatake, Koshimizu, Kushima, Okada, Morikawa, Uno (bib71) 2018; 22 MGC Project Team, Temple, Gerhard, Rasooly, Feingold, Good, Robinson, Mandich, Derge, Lewis (bib73) 2009; 19 Calleja, Herranz, Estella, Casal, Lawrence, Simpson, Morata (bib11) 2000; 127 Marcogliese, Shashi, Spillmann, Stong, Rosenfeld, Koenig, Martínez-Agosto, Herzog, Chen, Dickson (bib49) 2018; 103 Venken, He, Hoskins, Bellen (bib77) 2006; 314 Deal, Yamamoto (bib16) 2018; 9 DePristo, Banks, Poplin, Garimella, Maguire, Hartl, Philippakis, del Angel, Rivas, Hanna (bib17) 2011; 43 Dudzic, Hanson, Iatsenko, Kondo, Lemaitre (bib20) 2019; 27 Liu, Jian, Boerwinkle (bib47) 2011; 32 Coe, Stessman, Sulovari, Geisheker, Bakken, Lake, Dougherty, Lein, Hormozdiari, Bernier (bib15) 2019; 51 Satterstrom, Kosmicki, Wang, Breen, Rubeis, An, Peng, Collins, Grove, Klei (bib63) 2020; 180 Nagarkar-Jaiswal, Lee, Campbell, Chen, Anguiano-Zarate, Gutierrez, Busby, Lin, He, Schulze (bib54) 2015; 4 Seeds, Ravbar, Chung, Hampel, Midgley, Mensh, Simpson (bib64) 2014; 3 Tsang, Dogruluk, Tedeschi, Wardwell-Ozgo, Lu, Espitia, Nair, Minelli, Chong, Chen (bib74) 2016; 7 Kanca, Zirin, Hu, Tepe, Dutta, Lin, Ma, Ge, Zuo, Liu, Levis (bib36) 2021 Wong, Brugman, Maher, Oh, Howe, Kato, Sternberg (bib82) 2019; 28 Fischbach, Lord (bib23) 2010; 68 McKenna, Hanna, Banks, Sivachenko, Cibulskis, Kernytsky, Garimella, Altshuler, Gabriel, Daly (bib51) 2010; 20 Harel, Yoon, Garone, Gu, Coban-Akdemir, Eldomery, Posey, Jhangiani, Rosenfeld, Cho (bib29) 2016; 99 Krstic, Boll, Noll (bib39) 2013; 8 Lek, Karczewski, Minikel, Samocha, Banks, Fennell, O’Donnell-Luria, Ware, Hill, Cummings (bib41) 2016; 536 Bellen, Wangler, Yamamoto (bib7) 2019; 28 Feske, Wulff, Skolnik (bib22) 2015; 33 Jagadeesh, Wenger, Berger, Guturu, Stenson, Cooper, Bernstein, Bejerano (bib33) 2016; 48 Supek, Bošnjak, Škunca, Šmuc (bib70) 2011; 6 Vaser, Adusumalli, Leng, Sikic, Ng (bib75) 2016; 11 Yuan, Chan, Filipek, Vogel (bib84) 2016; 24 Huang, Mao, van Jaarsveld, Shu, Terhal, Jia, Xi, Peng, Yan, Yuan (bib31) 2020; 29 Pinto, Pagnamenta, Klei, Anney, Merico, Regan, Conroy, Magalhaes, Correia, Abrahams (bib57) 2010; 466 Xiong, Bayat, Jaiswal, Zhang, Sandoval, Charng, Li, David, Duraine, Lin (bib83) 2012; 10 Chong, Buckingham, Jhangiani, Boehm, Sobreira, Smith, Harrell, McMillin, Wiszniewski, Gambin (bib13) 2015; 97 Marcogliese, Wangler (bib48) 2001 Diao, Ironfield, Luan, Diao, Shropshire, Ewer, Marr, Potter, Landgraf, White (bib18) 2015; 10 Liu, Schoch, Luo, Pena, Bhavana, Kukolich, Stringer, Powis, Radtke, Mroske (bib46) 2018; 27 Zeilhofer, Acuña, Gingras, Yévenes (bib86) 2018; 75 Goodman, Cope, Nil, Ravenscroft, Charng, Lu, Tien, Pfundt, Koolen, Haaxma (bib26) 2021; 108 Guo, Bettella, Marcogliese, Zhao, Andrews, Nowakowski, Gillentine, Hoekzema, Wang, Wu (bib28) 2019; 10 Ravenscroft, Phillips, Fieg, Bajikar, Peirce, Wegner, Luna, Fox, Yan, Rosenfeld (bib59) 2021; 23 Amberger, Bocchini, Scott, Hamosh (bib2) 2019; 47 Kircher, Witten, Jain, O’Roak, Cooper, Shendure (bib38) 2014; 46 Chen, Fragoza, Klei, Liu, Wang, Roeder, Devlin, Yu (bib12) 2018; 50 Pauli, Althoff, Oliveira, Heidmann, Schuldiner, Lehner, Dickson, Nasmyth (bib55) 2008; 14 Kabra, Robie, Rivera-Alba, Branson, Branson (bib34) 2013; 10 Du, Lü, Wu, Cheng, Gouaux (bib19) 2015; 526 Iossifov, O’Roak, Sanders, Ronemus, Krumm, Levy, Stessman, Witherspoon, Vives, Patterson (bib32) 2014; 515 Venken, Schulze, Haelterman, Pan, He, Evans-Holm, Carlson, Levis, Spradling, Hoskins (bib78) 2011; 8 Barakat, Gribnau (bib6) 2012; 139 Vetro, Pisano, Chiaro, Procopio, Guerra, Parrini, Mei, Virdò, Mangone, Azzari (bib80) 2020; 6 Lee, Zirin, Kanca, Lin, Schulze, Li-Kroeger, Tao, Devereaux, Hu, Chung (bib40) 2018; 7 Rubeis, He, Goldberg, Poultney, Samocha, Cicek, Kou, Liu, Fromer, Walker (bib61) 2014; 515 Karczewski, Francioli, Tiao, Cummings, Alföldi, Wang, Collins, Laricchia, Ganna, Birnbaum (bib37) 2020; 581 Guelman, Suganuma, Florens, Weake, Swanson, Washburn, Abmayr, Workman (bib27) 2006; 26 Sanders, Murtha, Gupta, Murdoch, Raubeson, Willsey, Ercan-Sencicek, DiLullo, Parikshak, Stein (bib62) 2012; 485 Moraga-Cid, Sauguet, Huon, Malherbe, Girard-Blanc, Petres, Murail, Taly, Baaden, Delarue (bib53) 2015; 112 Perenthaler, Nikoncuk, Yousefi, Berdowski, Alsagob, Capo, van der Linde, van den Berg, Jacobs, Putar (bib56) 2020; 139 Massey, Chung, Siwanowicz, Stern, Wittkopp (bib50) 2019; 8 Wang, Al-Ouran, Hu, Kim, Wan, Wangler, Yamamoto, Chao, Comjean, Mohr (bib81) 2017; 100 Gnerer, Venken, Dierick (bib25) 2015; 43 Ansar, Chung, Al-Otaibi, Elagabani, Ravenscroft, Paracha, Scholz, Magid, Sarwar, Shah (bib3) 2019; 105 Ashburner, Ball, Blake, Botstein, Butler, Cherry, Davis, Dolinski, Dwight, Eppig (bib4) 2000; 25 Perenthaler (10.1016/j.celrep.2022.110517_bib56) 2020; 139 Marcogliese (10.1016/j.celrep.2022.110517_bib49) 2018; 103 Kanca (10.1016/j.celrep.2022.110517_bib36) 2021 Brunet (10.1016/j.celrep.2022.110517_bib9) 2021; 100 Marcogliese (10.1016/j.celrep.2022.110517_bib48) 2001 (10.1016/j.celrep.2022.110517_bib68) 2017; 542 Vetro (10.1016/j.celrep.2022.110517_bib80) 2020; 6 MGC Project Team (10.1016/j.celrep.2022.110517_bib73) 2009; 19 Zeilhofer (10.1016/j.celrep.2022.110517_bib86) 2018; 75 Rubeis (10.1016/j.celrep.2022.110517_bib61) 2014; 515 Du (10.1016/j.celrep.2022.110517_bib19) 2015; 526 Fischbach (10.1016/j.celrep.2022.110517_bib23) 2010; 68 Ashburner (10.1016/j.celrep.2022.110517_bib4) 2000; 25 Link (10.1016/j.celrep.2022.110517_bib44) 2020; 147 Dudzic (10.1016/j.celrep.2022.110517_bib20) 2019; 27 Guelman (10.1016/j.celrep.2022.110517_bib27) 2006; 26 DePristo (10.1016/j.celrep.2022.110517_bib17) 2011; 43 Pauli (10.1016/j.celrep.2022.110517_bib55) 2008; 14 Coe (10.1016/j.celrep.2022.110517_bib15) 2019; 51 Simon (10.1016/j.celrep.2022.110517_bib65) 2010; 5 Guo (10.1016/j.celrep.2022.110517_bib28) 2019; 10 Venken (10.1016/j.celrep.2022.110517_bib78) 2011; 8 Verstreken (10.1016/j.celrep.2022.110517_bib79) 2003; 40 Wang (10.1016/j.celrep.2022.110517_bib81) 2017; 100 Chong (10.1016/j.celrep.2022.110517_bib13) 2015; 97 Vaser (10.1016/j.celrep.2022.110517_bib75) 2016; 11 Hu (10.1016/j.celrep.2022.110517_bib30) 2011; 12 Liu (10.1016/j.celrep.2022.110517_bib46) 2018; 27 de Velasco (10.1016/j.celrep.2022.110517_bib76) 2007; 302 Huang (10.1016/j.celrep.2022.110517_bib31) 2020; 29 Barakat (10.1016/j.celrep.2022.110517_bib6) 2012; 139 Diao (10.1016/j.celrep.2022.110517_bib18) 2015; 10 Post (10.1016/j.celrep.2022.110517_bib58) 2020; 11 Deal (10.1016/j.celrep.2022.110517_bib16) 2018; 9 Goodman (10.1016/j.celrep.2022.110517_bib26) 2021; 108 Lek (10.1016/j.celrep.2022.110517_bib41) 2016; 536 Mehta (10.1016/j.celrep.2022.110517_bib52) 2005; 46 Jagadeesh (10.1016/j.celrep.2022.110517_bib33) 2016; 48 Tsang (10.1016/j.celrep.2022.110517_bib74) 2016; 7 Supek (10.1016/j.celrep.2022.110517_bib70) 2011; 6 (10.1016/j.celrep.2022.110517_bib5) 2013 Venken (10.1016/j.celrep.2022.110517_bib77) 2006; 314 Kabra (10.1016/j.celrep.2022.110517_bib34) 2013; 10 Takata (10.1016/j.celrep.2022.110517_bib71) 2018; 22 Zhang (10.1016/j.celrep.2022.110517_bib87) 2017; 10 Pinto (10.1016/j.celrep.2022.110517_bib57) 2010; 466 Yuan (10.1016/j.celrep.2022.110517_bib84) 2016; 24 Moraga-Cid (10.1016/j.celrep.2022.110517_bib53) 2015; 112 Nagarkar-Jaiswal (10.1016/j.celrep.2022.110517_bib54) 2015; 4 Tang (10.1016/j.celrep.2022.110517_bib72) 2009; 29 Kanca (10.1016/j.celrep.2022.110517_bib35) 2019; 105 Lee (10.1016/j.celrep.2022.110517_bib40) 2018; 7 Iossifov (10.1016/j.celrep.2022.110517_bib32) 2014; 515 Li (10.1016/j.celrep.2022.110517_bib43) 2017; 100 Seeds (10.1016/j.celrep.2022.110517_bib64) 2014; 3 Feske (10.1016/j.celrep.2022.110517_bib22) 2015; 33 Amberger (10.1016/j.celrep.2022.110517_bib2) 2019; 47 Chen (10.1016/j.celrep.2022.110517_bib12) 2018; 50 Wong (10.1016/j.celrep.2022.110517_bib82) 2019; 28 Bellen (10.1016/j.celrep.2022.110517_bib7) 2019; 28 Sullivan (10.1016/j.celrep.2022.110517_bib69) 2019; 177 Richards (10.1016/j.celrep.2022.110517_bib60) 2015; 17 Yuen (10.1016/j.celrep.2022.110517_bib85) 2017; 20 Ravenscroft (10.1016/j.celrep.2022.110517_bib59) 2021; 23 Calleja (10.1016/j.celrep.2022.110517_bib11) 2000; 127 Massey (10.1016/j.celrep.2022.110517_bib50) 2019; 8 Levitt (10.1016/j.celrep.2022.110517_bib42) 2009; 119 Adzhubei (10.1016/j.celrep.2022.110517_bib1) 2010; 7 Liu (10.1016/j.celrep.2022.110517_bib47) 2011; 32 Sobreira (10.1016/j.celrep.2022.110517_bib66) 2015; 36 Ansar (10.1016/j.celrep.2022.110517_bib3) 2019; 105 Bischof (10.1016/j.celrep.2022.110517_bib8) 2007; 104 Eyjolfsdottir (10.1016/j.celrep.2022.110517_bib21) 2014 Splinter (10.1016/j.celrep.2022.110517_bib67) 2018; 379 Gnerer (10.1016/j.celrep.2022.110517_bib25) 2015; 43 McKenna (10.1016/j.celrep.2022.110517_bib51) 2010; 20 Liu (10.1016/j.celrep.2022.110517_bib45) 2013; 116 Karczewski (10.1016/j.celrep.2022.110517_bib37) 2020; 581 Krstic (10.1016/j.celrep.2022.110517_bib39) 2013; 8 Burley (10.1016/j.celrep.2022.110517_bib10) 2019; 47 Satterstrom (10.1016/j.celrep.2022.110517_bib63) 2020; 180 Kircher (10.1016/j.celrep.2022.110517_bib38) 2014; 46 Xiong (10.1016/j.celrep.2022.110517_bib83) 2012; 10 Gahl (10.1016/j.celrep.2022.110517_bib24) 2016; 117 Chung (10.1016/j.celrep.2022.110517_bib14) 2020; 106 Harel (10.1016/j.celrep.2022.110517_bib29) 2016; 99 Sanders (10.1016/j.celrep.2022.110517_bib62) 2012; 485 |
| References_xml | – volume: 8 start-page: 737 year: 2011 end-page: 743 ident: bib78 article-title: MiMIC: a highly versatile transposon insertion resource for engineering Drosophila melanogaster genes publication-title: Nat. Methods – volume: 32 start-page: 894 year: 2011 end-page: 899 ident: bib47 article-title: dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions publication-title: Hum. Mutat. – volume: 47 start-page: D464 year: 2019 end-page: D474 ident: bib10 article-title: RCSB Protein Data Bank: biological macromolecular structures enabling research and education in fundamental biology, biomedicine, biotechnology and energy publication-title: Nucleic Acids Res. – volume: 180 start-page: 568 year: 2020 end-page: 584.e23 ident: bib63 article-title: Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism publication-title: Cell – volume: 19 start-page: 2324 year: 2009 end-page: 2333 ident: bib73 article-title: The completion of the mammalian gene collection (MGC) publication-title: Genome Res. – volume: 29 start-page: 1537 year: 2020 end-page: 1546 ident: bib31 article-title: Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay publication-title: Hum. Mol. Genet. – volume: 7 start-page: 248 year: 2010 end-page: 249 ident: bib1 article-title: A method and server for predicting damaging missense mutations publication-title: Nat. Methods – volume: 99 start-page: 831 year: 2016 end-page: 845 ident: bib29 article-title: Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes publication-title: Am. J. Hum. Genet. – volume: 515 start-page: 209 year: 2014 end-page: 215 ident: bib61 article-title: Synaptic, transcriptional and chromatin genes disrupted in autism publication-title: Nature – year: 2001 ident: bib48 article-title: Drosophila as a Model for Human Diseases – volume: 36 start-page: 928 year: 2015 end-page: 930 ident: bib66 article-title: GeneMatcher: a matching tool for connecting investigators with an interest in the same gene publication-title: Hum. Mutat. – volume: 17 start-page: 405 year: 2015 end-page: 423 ident: bib60 article-title: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical genetics and genomics and the association for molecular Pathology publication-title: Genet. Med. – volume: 47 start-page: D1038 year: 2019 end-page: D1043 ident: bib2 article-title: OMIM.org: leveraging knowledge across phenotype-gene relationships publication-title: Nucleic Acids Res. – volume: 9 start-page: 700 year: 2018 ident: bib16 article-title: Unraveling novel mechanisms of neurodegeneration through a large-scale forward genetic screen in Drosophila publication-title: Front. Genet. – volume: 104 start-page: 3312 year: 2007 end-page: 3317 ident: bib8 article-title: An optimized transgenesis system for Drosophila using germ-line-specific phiC31 integrases publication-title: Proc. Natl. Acad. Sci. U S A – volume: 3 start-page: e02951 year: 2014 ident: bib64 article-title: A suppression hierarchy among competing motor programs drives sequential grooming in Drosophila publication-title: ELife – volume: 485 start-page: 237 year: 2012 end-page: 241 ident: bib62 article-title: De novo mutations revealed by whole-exome sequencing are strongly associated with autism publication-title: Nature – volume: 75 start-page: 447 year: 2018 end-page: 465 ident: bib86 article-title: Glycine receptors and glycine transporters: targets for novel analgesics? publication-title: Cell Mol. Life Sci. : CMLS – volume: 48 start-page: 1581 year: 2016 end-page: 1586 ident: bib33 article-title: M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity publication-title: Nat. Genet. – volume: 139 start-page: 415 year: 2020 end-page: 442 ident: bib56 article-title: Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases publication-title: Acta Neuropathol. – volume: 466 start-page: 368 year: 2010 end-page: 372 ident: bib57 article-title: Functional impact of global rare copy number variation in autism spectrum disorders publication-title: Nature – volume: 6 start-page: e387 year: 2020 ident: bib80 article-title: Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations publication-title: Neurol. Genet. – volume: 515 start-page: 216 year: 2014 end-page: 221 ident: bib32 article-title: The contribution of de novo coding mutations to autism spectrum disorder publication-title: Nature – volume: 24 start-page: 2041 year: 2016 end-page: 2042 ident: bib84 article-title: PyMOL and inkscape bridge the data and the data visualization publication-title: Structure – volume: 100 start-page: 14 year: 2021 end-page: 28 ident: bib9 article-title: De novo variants in neurodevelopmental disorders—experiences from a tertiary care center publication-title: Clin. Genet. – volume: 105 start-page: 907 year: 2019 end-page: 920 ident: bib3 article-title: Bi-allelic variants in IQSEC1 cause intellectual disability, developmental delay, and short stature publication-title: Am. J. Hum. Genet. – volume: 12 start-page: 357 year: 2011 end-page: 416 ident: bib30 article-title: An integrative approach to ortholog prediction for disease-focused and other functional studies publication-title: BMC Bioinformatics – volume: 28 start-page: R207 year: 2019 end-page: R214 ident: bib7 article-title: The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases publication-title: Hum. Mol. Genet. – volume: 27 start-page: 2454 year: 2018 end-page: 2465 ident: bib46 article-title: Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder publication-title: Hum. Mol. Genet. – volume: 43 start-page: e56 year: 2015 ident: bib25 article-title: Gene-specific cell labeling using MiMIC transposons publication-title: Nucleic Acids Res. – volume: 7 start-page: 1377 year: 2018 ident: bib40 article-title: A gene-specific T2A-GAL4 library for Drosophila publication-title: ELife – volume: 10 start-page: e1001438 year: 2012 ident: bib83 article-title: Crag is a GEF for Rab11 required for rhodopsin trafficking and maintenance of adult photoreceptor cells publication-title: PLoS Biol. – volume: 8 start-page: e49388 year: 2019 ident: bib50 article-title: The yellow gene influences Drosophila male mating success through sex comb melanization publication-title: Elife – volume: 302 start-page: 309 year: 2007 end-page: 323 ident: bib76 article-title: Specification and development of the pars intercerebralis and pars lateralis, neuroendocrine command centers in the Drosophila brain publication-title: Developmental Biol. – volume: 100 start-page: 267 year: 2017 end-page: 280 ident: bib43 article-title: InterVar: clinical interpretation of genetic variants by the 2015 ACMG-AMP guidelines publication-title: Am. J. Hum. Genet. – volume: 526 start-page: 224 year: 2015 end-page: 229 ident: bib19 article-title: Glycine receptor mechanism elucidated by electron cryo-microscopy publication-title: Nature – volume: 27 start-page: 1050 year: 2019 end-page: 1061.e3 ident: bib20 article-title: More than black or white: melanization and toll share regulatory serine proteases in Drosophila publication-title: Cell Rep. – volume: 103 start-page: 245 year: 2018 end-page: 260 ident: bib49 article-title: IRF2BPL is associated with neurological phenotypes publication-title: Am. J. Hum. Genet. – volume: 119 start-page: 747 year: 2009 end-page: 754 ident: bib42 article-title: The genetic and neurobiologic compass points toward common signaling dysfunctions in autism spectrum disorders publication-title: J. Clin. Invest. – volume: 6 start-page: e21800 year: 2011 ident: bib70 article-title: REVIGO summarizes and visualizes long lists of gene ontology terms publication-title: Plos One – volume: 8 start-page: e77904 year: 2013 ident: bib39 article-title: Influence of the white locus on the courtship behavior of Drosophila males publication-title: PLoS One – volume: 25 start-page: 25 year: 2000 end-page: 29 ident: bib4 article-title: Gene ontology: tool for the unification of biology. The Gene Ontology Consortium publication-title: Nat. Genet. – volume: 105 start-page: 413 year: 2019 end-page: 424 ident: bib35 article-title: De novo variants in WDR37 are associated with epilepsy, colobomas, dysmorphism, developmental delay, intellectual disability, and cerebellar hypoplasia publication-title: Am. J. Hum. Genet. – year: 2021 ident: bib36 article-title: An expanded toolkit for Drosophila gene tagging using synthesized homology donor constructs for CRISPR mediated homologous recombination publication-title: bioRxiv – volume: 177 start-page: 162 year: 2019 end-page: 183 ident: bib69 article-title: Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders publication-title: Cell – volume: 5 start-page: e8793 year: 2010 ident: bib65 article-title: A new chamber for studying the behavior of Drosophila publication-title: PLoS One – volume: 46 start-page: 310 year: 2014 end-page: 315 ident: bib38 article-title: A general framework for estimating the relative pathogenicity of human genetic variants publication-title: Nat. Genet. – volume: 46 start-page: 219 year: 2005 end-page: 232 ident: bib52 article-title: Mutations in Drosophila sec15 reveal a function in neuronal targeting for a subset of exocyst components publication-title: Neuron – volume: 33 start-page: 291 year: 2015 end-page: 353 ident: bib22 article-title: Ion channels in innate and adaptive immunity publication-title: Annu. Rev. Immunol. – volume: 28 start-page: 2271 year: 2019 end-page: 2281 ident: bib82 article-title: Autism-associated missense genetic variants impact locomotion and neurodevelopment in Caenorhabditis elegans publication-title: Hum. Mol. Genet. – volume: 147 start-page: dev191411 year: 2020 ident: bib44 article-title: Using Drosophila to drive the diagnosis and understand the mechanisms of rare human diseases publication-title: Development – volume: 43 start-page: 491 year: 2011 end-page: 498 ident: bib17 article-title: A framework for variation discovery and genotyping using next-generation DNA sequencing data publication-title: Nat. Genet. – volume: 26 start-page: 7178 year: 2006 end-page: 7189 ident: bib27 article-title: The essential gene wda encodes a WD40 repeat subunit of Drosophila SAGA required for histone H3 acetylation publication-title: Mol. Cell Biol. – volume: 100 start-page: 843 year: 2017 end-page: 853 ident: bib81 article-title: MARRVEL: integration of human and model organism genetic resources to facilitate functional annotation of the human genome publication-title: Am. J. Hum. Genet. – volume: 379 start-page: 2131 year: 2018 end-page: 2139 ident: bib67 article-title: Effect of genetic diagnosis on patients with previously undiagnosed disease publication-title: New Engl. J. Med. – volume: 139 start-page: 2085 year: 2012 end-page: 2089 ident: bib6 article-title: X chromosome inactivation in the cycle of life publication-title: Development – volume: 11 start-page: 2073 year: 2020 ident: bib58 article-title: Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction publication-title: Nat. Commun. – volume: 117 start-page: 393 year: 2016 end-page: 400 ident: bib24 article-title: The NIH undiagnosed diseases program and Network: applications to modern medicine publication-title: Mol. Genet. Metab. – volume: 10 start-page: 4679 year: 2019 end-page: 4717 ident: bib28 article-title: Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders publication-title: Nat. Commun. – volume: 50 start-page: 1032 year: 2018 end-page: 1040 ident: bib12 article-title: An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders publication-title: Nat. Genet. – volume: 581 start-page: 434 year: 2020 end-page: 443 ident: bib37 article-title: The mutational constraint spectrum quantified from variation in 141,456 humans publication-title: Nature – volume: 23 start-page: 1 year: 2021 end-page: 12 ident: bib59 article-title: Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11 publication-title: Genet. Med. – volume: 4 start-page: 2743 year: 2015 ident: bib54 article-title: A library of MiMICs allows tagging of genes and reversible, spatial and temporal knockdown of proteins in Drosophila publication-title: ELife – volume: 10 start-page: 158 year: 2017 ident: bib87 article-title: Structure-function analysis of the GlyR α2 subunit autism mutation p.R323L reveals a gain-of-function publication-title: Front. Mol. Neurosci. – volume: 7 start-page: 10500 year: 2016 end-page: 10511 ident: bib74 article-title: Functional annotation of rare gene aberration drivers of pancreatic cancer publication-title: Nat. Commun. – volume: 536 start-page: 285 year: 2016 end-page: 291 ident: bib41 article-title: Analysis of protein-coding genetic variation in 60,706 humans publication-title: Nature – volume: 20 start-page: 1297 year: 2010 end-page: 1303 ident: bib51 article-title: The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data publication-title: Genome Res. – volume: 10 start-page: 64 year: 2013 end-page: 67 ident: bib34 article-title: JAABA: interactive machine learning for automatic annotation of animal behavior publication-title: Nat. Methods – year: 2013 ident: bib5 article-title: Diagnostic and Statistical Manual of Mental Disorders (DSM-5) – volume: 116 start-page: 197 year: 2013 end-page: 209 ident: bib45 article-title: Sensory processing and motor skill performance in elementary school children with autism spectrum disorder publication-title: Percept Mot. Skill – volume: 14 start-page: 239 year: 2008 end-page: 251 ident: bib55 article-title: Cell-type-specific TEV protease cleavage reveals cohesin functions in Drosophila neurons publication-title: Developmental Cell – volume: 40 start-page: 733 year: 2003 end-page: 748 ident: bib79 article-title: Synaptojanin is recruited by endophilin to promote synaptic vesicle uncoating publication-title: Neuron – volume: 11 start-page: 1 year: 2016 end-page: 9 ident: bib75 article-title: SIFT missense predictions for genomes publication-title: Nat. Protoc. – volume: 29 start-page: 8621 year: 2009 end-page: 8629 ident: bib72 article-title: Faithful expression of multiple proteins via 2A-peptide self-processing: a versatile and reliable method for manipulating brain circuits publication-title: J. Neurosci. : Official J. Soc. Neurosci. – volume: 10 start-page: 1410 year: 2015 end-page: 1421 ident: bib18 article-title: Plug-and-play genetic access to drosophila cell types using exchangeable exon cassettes publication-title: Cell Rep. – volume: 542 start-page: 433 year: 2017 end-page: 438 ident: bib68 article-title: Prevalence and architecture of de novo mutations in developmental disorders publication-title: Nature – volume: 127 start-page: 3971 year: 2000 end-page: 3980 ident: bib11 article-title: Generation of medial and lateral dorsal body domains by the pannier gene of Drosophila publication-title: Development – volume: 51 start-page: 106 year: 2019 end-page: 116 ident: bib15 article-title: Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity publication-title: Nat. Genet. – volume: 108 start-page: 1669 year: 2021 end-page: 1691 ident: bib26 article-title: TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila publication-title: Am. J. Hum. Genet. – volume: 20 start-page: 602 year: 2017 end-page: 611 ident: bib85 article-title: Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder publication-title: Nat. Neurosci. – volume: 314 start-page: 1747 year: 2006 end-page: 1751 ident: bib77 article-title: P[acman]: a BAC transgenic platform for targeted insertion of large DNA fragments in D. melanogaster publication-title: Science – volume: 68 start-page: 192 year: 2010 end-page: 195 ident: bib23 article-title: The Simons Simplex Collection: a resource for identification of autism genetic risk factors publication-title: Neuron – volume: 22 start-page: 734 year: 2018 end-page: 747 ident: bib71 article-title: Integrative analyses of de novo mutations provide deeper biological insights into autism spectrum disorder publication-title: Cell Rep. – volume: 97 start-page: 199 year: 2015 end-page: 215 ident: bib13 article-title: The genetic basis of mendelian phenotypes: discoveries, challenges, and opportunities publication-title: Am. J. Hum. Genet. – volume: 106 start-page: 589 year: 2020 end-page: 606.e6 ident: bib14 article-title: Loss- or gain-of-function mutations in ACOX1 cause axonal loss via different mechanisms publication-title: Neuron – start-page: 772 year: 2014 end-page: 787 ident: bib21 article-title: Detecting Social Actions of Fruit Flies publication-title: Computer Vision – ECCV 2014, Lecture Notes in Computer Science – volume: 112 start-page: 2865 year: 2015 end-page: 2870 ident: bib53 article-title: Allosteric and hyperekplexic mutant phenotypes investigated on an α1 glycine receptor transmembrane structure publication-title: Proc. Natl. Acad. Sci. U S A – volume: 11 start-page: 2073 year: 2020 ident: 10.1016/j.celrep.2022.110517_bib58 article-title: Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction publication-title: Nat. Commun. doi: 10.1038/s41467-020-15943-0 – year: 2001 ident: 10.1016/j.celrep.2022.110517_bib48 – volume: 97 start-page: 199 year: 2015 ident: 10.1016/j.celrep.2022.110517_bib13 article-title: The genetic basis of mendelian phenotypes: discoveries, challenges, and opportunities publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2015.06.009 – volume: 7 start-page: 10500 year: 2016 ident: 10.1016/j.celrep.2022.110517_bib74 article-title: Functional annotation of rare gene aberration drivers of pancreatic cancer publication-title: Nat. Commun. doi: 10.1038/ncomms10500 – volume: 20 start-page: 602 year: 2017 ident: 10.1016/j.celrep.2022.110517_bib85 article-title: Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder publication-title: Nat. Neurosci. doi: 10.1038/nn.4524 – volume: 9 start-page: 700 year: 2018 ident: 10.1016/j.celrep.2022.110517_bib16 article-title: Unraveling novel mechanisms of neurodegeneration through a large-scale forward genetic screen in Drosophila publication-title: Front. Genet. doi: 10.3389/fgene.2018.00700 – volume: 11 start-page: 1 year: 2016 ident: 10.1016/j.celrep.2022.110517_bib75 article-title: SIFT missense predictions for genomes publication-title: Nat. Protoc. doi: 10.1038/nprot.2015.123 – volume: 6 start-page: e21800 year: 2011 ident: 10.1016/j.celrep.2022.110517_bib70 article-title: REVIGO summarizes and visualizes long lists of gene ontology terms publication-title: Plos One doi: 10.1371/journal.pone.0021800 – volume: 7 start-page: 248 year: 2010 ident: 10.1016/j.celrep.2022.110517_bib1 article-title: A method and server for predicting damaging missense mutations publication-title: Nat. Methods doi: 10.1038/nmeth0410-248 – volume: 103 start-page: 245 year: 2018 ident: 10.1016/j.celrep.2022.110517_bib49 article-title: IRF2BPL is associated with neurological phenotypes publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2018.07.006 – volume: 515 start-page: 216 year: 2014 ident: 10.1016/j.celrep.2022.110517_bib32 article-title: The contribution of de novo coding mutations to autism spectrum disorder publication-title: Nature doi: 10.1038/nature13908 – volume: 27 start-page: 2454 year: 2018 ident: 10.1016/j.celrep.2022.110517_bib46 article-title: Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/ddy146 – volume: 105 start-page: 907 year: 2019 ident: 10.1016/j.celrep.2022.110517_bib3 article-title: Bi-allelic variants in IQSEC1 cause intellectual disability, developmental delay, and short stature publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2019.09.013 – volume: 28 start-page: R207 year: 2019 ident: 10.1016/j.celrep.2022.110517_bib7 article-title: The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/ddz135 – volume: 29 start-page: 1537 year: 2020 ident: 10.1016/j.celrep.2022.110517_bib31 article-title: Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay publication-title: Hum. Mol. Genet. doi: 10.1093/hmg/ddaa078 – volume: 515 start-page: 209 year: 2014 ident: 10.1016/j.celrep.2022.110517_bib61 article-title: Synaptic, transcriptional and chromatin genes disrupted in autism publication-title: Nature doi: 10.1038/nature13772 – year: 2013 ident: 10.1016/j.celrep.2022.110517_bib5 – volume: 22 start-page: 734 year: 2018 ident: 10.1016/j.celrep.2022.110517_bib71 article-title: Integrative analyses of de novo mutations provide deeper biological insights into autism spectrum disorder publication-title: Cell Rep. doi: 10.1016/j.celrep.2017.12.074 – volume: 24 start-page: 2041 year: 2016 ident: 10.1016/j.celrep.2022.110517_bib84 article-title: PyMOL and inkscape bridge the data and the data visualization publication-title: Structure doi: 10.1016/j.str.2016.11.012 – volume: 116 start-page: 197 year: 2013 ident: 10.1016/j.celrep.2022.110517_bib45 article-title: Sensory processing and motor skill performance in elementary school children with autism spectrum disorder publication-title: Percept Mot. Skill doi: 10.2466/10.25.PMS.116.1.197-209 – volume: 10 start-page: e1001438 year: 2012 ident: 10.1016/j.celrep.2022.110517_bib83 article-title: Crag is a GEF for Rab11 required for rhodopsin trafficking and maintenance of adult photoreceptor cells publication-title: PLoS Biol. doi: 10.1371/journal.pbio.1001438 – volume: 26 start-page: 7178 year: 2006 ident: 10.1016/j.celrep.2022.110517_bib27 article-title: The essential gene wda encodes a WD40 repeat subunit of Drosophila SAGA required for histone H3 acetylation publication-title: Mol. Cell Biol. doi: 10.1128/MCB.00130-06 – volume: 19 start-page: 2324 year: 2009 ident: 10.1016/j.celrep.2022.110517_bib73 article-title: The completion of the mammalian gene collection (MGC) publication-title: Genome Res. doi: 10.1101/gr.095976.109 – volume: 105 start-page: 413 year: 2019 ident: 10.1016/j.celrep.2022.110517_bib35 article-title: De novo variants in WDR37 are associated with epilepsy, colobomas, dysmorphism, developmental delay, intellectual disability, and cerebellar hypoplasia publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2019.06.014 – volume: 5 start-page: e8793 year: 2010 ident: 10.1016/j.celrep.2022.110517_bib65 article-title: A new chamber for studying the behavior of Drosophila publication-title: PLoS One doi: 10.1371/journal.pone.0008793 – volume: 127 start-page: 3971 year: 2000 ident: 10.1016/j.celrep.2022.110517_bib11 article-title: Generation of medial and lateral dorsal body domains by the pannier gene of Drosophila publication-title: Development doi: 10.1242/dev.127.18.3971 – volume: 119 start-page: 747 year: 2009 ident: 10.1016/j.celrep.2022.110517_bib42 article-title: The genetic and neurobiologic compass points toward common signaling dysfunctions in autism spectrum disorders publication-title: J. Clin. Invest. doi: 10.1172/JCI37934 – volume: 8 start-page: e49388 year: 2019 ident: 10.1016/j.celrep.2022.110517_bib50 article-title: The yellow gene influences Drosophila male mating success through sex comb melanization publication-title: Elife doi: 10.7554/eLife.49388 – volume: 23 start-page: 1 year: 2021 ident: 10.1016/j.celrep.2022.110517_bib59 article-title: Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11 publication-title: Genet. Med. doi: 10.1038/s41436-021-01216-8 – volume: 40 start-page: 733 year: 2003 ident: 10.1016/j.celrep.2022.110517_bib79 article-title: Synaptojanin is recruited by endophilin to promote synaptic vesicle uncoating publication-title: Neuron doi: 10.1016/S0896-6273(03)00644-5 – volume: 14 start-page: 239 year: 2008 ident: 10.1016/j.celrep.2022.110517_bib55 article-title: Cell-type-specific TEV protease cleavage reveals cohesin functions in Drosophila neurons publication-title: Developmental Cell doi: 10.1016/j.devcel.2007.12.009 – volume: 147 start-page: dev191411 year: 2020 ident: 10.1016/j.celrep.2022.110517_bib44 article-title: Using Drosophila to drive the diagnosis and understand the mechanisms of rare human diseases publication-title: Development doi: 10.1242/dev.191411 – volume: 485 start-page: 237 year: 2012 ident: 10.1016/j.celrep.2022.110517_bib62 article-title: De novo mutations revealed by whole-exome sequencing are strongly associated with autism publication-title: Nature doi: 10.1038/nature10945 – volume: 32 start-page: 894 year: 2011 ident: 10.1016/j.celrep.2022.110517_bib47 article-title: dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions publication-title: Hum. Mutat. doi: 10.1002/humu.21517 – volume: 50 start-page: 1032 year: 2018 ident: 10.1016/j.celrep.2022.110517_bib12 article-title: An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders publication-title: Nat. Genet. doi: 10.1038/s41588-018-0130-z – volume: 3 start-page: e02951 year: 2014 ident: 10.1016/j.celrep.2022.110517_bib64 article-title: A suppression hierarchy among competing motor programs drives sequential grooming in Drosophila publication-title: ELife doi: 10.7554/eLife.02951 – start-page: 772 year: 2014 ident: 10.1016/j.celrep.2022.110517_bib21 article-title: Detecting Social Actions of Fruit Flies – volume: 8 start-page: 737 year: 2011 ident: 10.1016/j.celrep.2022.110517_bib78 article-title: MiMIC: a highly versatile transposon insertion resource for engineering Drosophila melanogaster genes publication-title: Nat. Methods doi: 10.1038/nmeth.1662 – volume: 46 start-page: 219 year: 2005 ident: 10.1016/j.celrep.2022.110517_bib52 article-title: Mutations in Drosophila sec15 reveal a function in neuronal targeting for a subset of exocyst components publication-title: Neuron doi: 10.1016/j.neuron.2005.02.029 – volume: 29 start-page: 8621 year: 2009 ident: 10.1016/j.celrep.2022.110517_bib72 article-title: Faithful expression of multiple proteins via 2A-peptide self-processing: a versatile and reliable method for manipulating brain circuits publication-title: J. Neurosci. : Official J. Soc. Neurosci. doi: 10.1523/JNEUROSCI.0359-09.2009 – volume: 99 start-page: 831 year: 2016 ident: 10.1016/j.celrep.2022.110517_bib29 article-title: Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2016.08.007 – volume: 51 start-page: 106 year: 2019 ident: 10.1016/j.celrep.2022.110517_bib15 article-title: Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity publication-title: Nat. Genet. doi: 10.1038/s41588-018-0288-4 – volume: 112 start-page: 2865 year: 2015 ident: 10.1016/j.celrep.2022.110517_bib53 article-title: Allosteric and hyperekplexic mutant phenotypes investigated on an α1 glycine receptor transmembrane structure publication-title: Proc. Natl. Acad. Sci. U S A doi: 10.1073/pnas.1417864112 – volume: 17 start-page: 405 year: 2015 ident: 10.1016/j.celrep.2022.110517_bib60 article-title: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical genetics and genomics and the association for molecular Pathology publication-title: Genet. Med. doi: 10.1038/gim.2015.30 – volume: 10 start-page: 158 year: 2017 ident: 10.1016/j.celrep.2022.110517_bib87 article-title: Structure-function analysis of the GlyR α2 subunit autism mutation p.R323L reveals a gain-of-function publication-title: Front. Mol. Neurosci. doi: 10.3389/fnmol.2017.00158 – volume: 100 start-page: 267 year: 2017 ident: 10.1016/j.celrep.2022.110517_bib43 article-title: InterVar: clinical interpretation of genetic variants by the 2015 ACMG-AMP guidelines publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2017.01.004 – volume: 104 start-page: 3312 year: 2007 ident: 10.1016/j.celrep.2022.110517_bib8 article-title: An optimized transgenesis system for Drosophila using germ-line-specific phiC31 integrases publication-title: Proc. Natl. Acad. Sci. U S A doi: 10.1073/pnas.0611511104 – volume: 25 start-page: 25 year: 2000 ident: 10.1016/j.celrep.2022.110517_bib4 article-title: Gene ontology: tool for the unification of biology. The Gene Ontology Consortium publication-title: Nat. Genet. doi: 10.1038/75556 – volume: 139 start-page: 2085 year: 2012 ident: 10.1016/j.celrep.2022.110517_bib6 article-title: X chromosome inactivation in the cycle of life publication-title: Development doi: 10.1242/dev.069328 – volume: 466 start-page: 368 year: 2010 ident: 10.1016/j.celrep.2022.110517_bib57 article-title: Functional impact of global rare copy number variation in autism spectrum disorders publication-title: Nature doi: 10.1038/nature09146 – volume: 139 start-page: 415 year: 2020 ident: 10.1016/j.celrep.2022.110517_bib56 article-title: Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases publication-title: Acta Neuropathol. doi: 10.1007/s00401-019-02109-6 – volume: 581 start-page: 434 year: 2020 ident: 10.1016/j.celrep.2022.110517_bib37 article-title: The mutational constraint spectrum quantified from variation in 141,456 humans publication-title: Nature doi: 10.1038/s41586-020-2308-7 – volume: 106 start-page: 589 year: 2020 ident: 10.1016/j.celrep.2022.110517_bib14 article-title: Loss- or gain-of-function mutations in ACOX1 cause axonal loss via different mechanisms publication-title: Neuron doi: 10.1016/j.neuron.2020.02.021 – volume: 75 start-page: 447 year: 2018 ident: 10.1016/j.celrep.2022.110517_bib86 article-title: Glycine receptors and glycine transporters: targets for novel analgesics? publication-title: Cell Mol. Life Sci. : CMLS doi: 10.1007/s00018-017-2622-x – volume: 47 start-page: D1038 year: 2019 ident: 10.1016/j.celrep.2022.110517_bib2 article-title: OMIM.org: leveraging knowledge across phenotype-gene relationships publication-title: Nucleic Acids Res. doi: 10.1093/nar/gky1151 – volume: 33 start-page: 291 year: 2015 ident: 10.1016/j.celrep.2022.110517_bib22 article-title: Ion channels in innate and adaptive immunity publication-title: Annu. Rev. Immunol. doi: 10.1146/annurev-immunol-032414-112212 – volume: 28 start-page: 2271 year: 2019 ident: 10.1016/j.celrep.2022.110517_bib82 article-title: Autism-associated missense genetic variants impact locomotion and neurodevelopment in Caenorhabditis elegans publication-title: Hum. Mol. Genet. – volume: 12 start-page: 357 year: 2011 ident: 10.1016/j.celrep.2022.110517_bib30 article-title: An integrative approach to ortholog prediction for disease-focused and other functional studies publication-title: BMC Bioinformatics doi: 10.1186/1471-2105-12-357 – volume: 10 start-page: 1410 year: 2015 ident: 10.1016/j.celrep.2022.110517_bib18 article-title: Plug-and-play genetic access to drosophila cell types using exchangeable exon cassettes publication-title: Cell Rep. doi: 10.1016/j.celrep.2015.01.059 – volume: 7 start-page: 1377 year: 2018 ident: 10.1016/j.celrep.2022.110517_bib40 article-title: A gene-specific T2A-GAL4 library for Drosophila publication-title: ELife doi: 10.7554/eLife.35574 – volume: 4 start-page: 2743 year: 2015 ident: 10.1016/j.celrep.2022.110517_bib54 article-title: A library of MiMICs allows tagging of genes and reversible, spatial and temporal knockdown of proteins in Drosophila publication-title: ELife doi: 10.7554/eLife.05338 – volume: 108 start-page: 1669 year: 2021 ident: 10.1016/j.celrep.2022.110517_bib26 article-title: TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2021.06.019 – volume: 20 start-page: 1297 year: 2010 ident: 10.1016/j.celrep.2022.110517_bib51 article-title: The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data publication-title: Genome Res. doi: 10.1101/gr.107524.110 – volume: 542 start-page: 433 year: 2017 ident: 10.1016/j.celrep.2022.110517_bib68 article-title: Prevalence and architecture of de novo mutations in developmental disorders publication-title: Nature doi: 10.1038/nature21062 – volume: 117 start-page: 393 year: 2016 ident: 10.1016/j.celrep.2022.110517_bib24 article-title: The NIH undiagnosed diseases program and Network: applications to modern medicine publication-title: Mol. Genet. Metab. doi: 10.1016/j.ymgme.2016.01.007 – volume: 536 start-page: 285 year: 2016 ident: 10.1016/j.celrep.2022.110517_bib41 article-title: Analysis of protein-coding genetic variation in 60,706 humans publication-title: Nature doi: 10.1038/nature19057 – volume: 43 start-page: e56 year: 2015 ident: 10.1016/j.celrep.2022.110517_bib25 article-title: Gene-specific cell labeling using MiMIC transposons publication-title: Nucleic Acids Res. doi: 10.1093/nar/gkv113 – volume: 48 start-page: 1581 year: 2016 ident: 10.1016/j.celrep.2022.110517_bib33 article-title: M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity publication-title: Nat. Genet. doi: 10.1038/ng.3703 – volume: 68 start-page: 192 year: 2010 ident: 10.1016/j.celrep.2022.110517_bib23 article-title: The Simons Simplex Collection: a resource for identification of autism genetic risk factors publication-title: Neuron doi: 10.1016/j.neuron.2010.10.006 – volume: 379 start-page: 2131 year: 2018 ident: 10.1016/j.celrep.2022.110517_bib67 article-title: Effect of genetic diagnosis on patients with previously undiagnosed disease publication-title: New Engl. J. Med. doi: 10.1056/NEJMoa1714458 – volume: 27 start-page: 1050 year: 2019 ident: 10.1016/j.celrep.2022.110517_bib20 article-title: More than black or white: melanization and toll share regulatory serine proteases in Drosophila publication-title: Cell Rep. doi: 10.1016/j.celrep.2019.03.101 – volume: 10 start-page: 4679 year: 2019 ident: 10.1016/j.celrep.2022.110517_bib28 article-title: Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders publication-title: Nat. Commun. doi: 10.1038/s41467-019-12435-8 – volume: 8 start-page: e77904 year: 2013 ident: 10.1016/j.celrep.2022.110517_bib39 article-title: Influence of the white locus on the courtship behavior of Drosophila males publication-title: PLoS One doi: 10.1371/journal.pone.0077904 – year: 2021 ident: 10.1016/j.celrep.2022.110517_bib36 article-title: An expanded toolkit for Drosophila gene tagging using synthesized homology donor constructs for CRISPR mediated homologous recombination publication-title: bioRxiv – volume: 180 start-page: 568 year: 2020 ident: 10.1016/j.celrep.2022.110517_bib63 article-title: Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism publication-title: Cell doi: 10.1016/j.cell.2019.12.036 – volume: 46 start-page: 310 year: 2014 ident: 10.1016/j.celrep.2022.110517_bib38 article-title: A general framework for estimating the relative pathogenicity of human genetic variants publication-title: Nat. Genet. doi: 10.1038/ng.2892 – volume: 302 start-page: 309 year: 2007 ident: 10.1016/j.celrep.2022.110517_bib76 article-title: Specification and development of the pars intercerebralis and pars lateralis, neuroendocrine command centers in the Drosophila brain publication-title: Developmental Biol. doi: 10.1016/j.ydbio.2006.09.035 – volume: 100 start-page: 14 year: 2021 ident: 10.1016/j.celrep.2022.110517_bib9 article-title: De novo variants in neurodevelopmental disorders—experiences from a tertiary care center publication-title: Clin. Genet. doi: 10.1111/cge.13946 – volume: 43 start-page: 491 year: 2011 ident: 10.1016/j.celrep.2022.110517_bib17 article-title: A framework for variation discovery and genotyping using next-generation DNA sequencing data publication-title: Nat. Genet. doi: 10.1038/ng.806 – volume: 36 start-page: 928 year: 2015 ident: 10.1016/j.celrep.2022.110517_bib66 article-title: GeneMatcher: a matching tool for connecting investigators with an interest in the same gene publication-title: Hum. Mutat. doi: 10.1002/humu.22844 – volume: 314 start-page: 1747 year: 2006 ident: 10.1016/j.celrep.2022.110517_bib77 article-title: P[acman]: a BAC transgenic platform for targeted insertion of large DNA fragments in D. melanogaster publication-title: Science doi: 10.1126/science.1134426 – volume: 526 start-page: 224 year: 2015 ident: 10.1016/j.celrep.2022.110517_bib19 article-title: Glycine receptor mechanism elucidated by electron cryo-microscopy publication-title: Nature doi: 10.1038/nature14853 – volume: 10 start-page: 64 year: 2013 ident: 10.1016/j.celrep.2022.110517_bib34 article-title: JAABA: interactive machine learning for automatic annotation of animal behavior publication-title: Nat. Methods doi: 10.1038/nmeth.2281 – volume: 100 start-page: 843 year: 2017 ident: 10.1016/j.celrep.2022.110517_bib81 article-title: MARRVEL: integration of human and model organism genetic resources to facilitate functional annotation of the human genome publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2017.04.010 – volume: 6 start-page: e387 year: 2020 ident: 10.1016/j.celrep.2022.110517_bib80 article-title: Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations publication-title: Neurol. Genet. doi: 10.1212/NXG.0000000000000387 – volume: 47 start-page: D464 year: 2019 ident: 10.1016/j.celrep.2022.110517_bib10 article-title: RCSB Protein Data Bank: biological macromolecular structures enabling research and education in fundamental biology, biomedicine, biotechnology and energy publication-title: Nucleic Acids Res. doi: 10.1093/nar/gky1004 – volume: 177 start-page: 162 year: 2019 ident: 10.1016/j.celrep.2022.110517_bib69 article-title: Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders publication-title: Cell doi: 10.1016/j.cell.2019.01.015 |
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| SubjectTerms | Animals autism spectrum disorder Autism Spectrum Disorder - genetics Autism Spectrum Disorder - pathology Autistic Disorder - genetics Drosophila - genetics Drosophila melanogaster functional genomics Genetic Predisposition to Disease GLRA2 GluClalpha humanization Humans missense variants Neurodevelopmental Disorders - genetics rare genetic diseases Receptors, Glycine - genetics T2A-GAL4 TG4 undiagnosed diseases |
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