The female protective effect in autism spectrum disorder is not mediated by a single genetic locus

Autor: Sanders, Stephan, Gockley, J, Willsey, AJ, Dong, S, Dougherty, JD, Constantino, JN, Sanders, SJ

Publikováno v: Sanders, Stephan; Gockley, J; Willsey, AJ; Dong, S; Dougherty, JD; Constantino, JN; et al.(2015). The female protective effect in autism spectrum disorder is not mediated by a single genetic locus. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/4mr3450r

© 2015 Gockley et al.; licensee BioMed Central.Background: A 4:1 male to female sex bias has consistently been observed in autism spectrum disorder (ASD). Epidemiological and genetic studies suggest a female protective effect (FPE) may account for p

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http://www.escholarship.org/uc/item/4mr3450r

Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts

Autor: State, Matthew, Sanders, Stephan, Moreno-De-Luca, D, Sanders, SJ, Willsey, AJ, Mulle, JG, Lowe, JK, Geschwind, DH, State, MW, Martin, CL, Ledbetter, DH

Publikováno v: State, Matthew; Sanders, Stephan; Moreno-De-Luca, D; Sanders, SJ; Willsey, AJ; Mulle, JG; et al.(2013). Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/7036973c

Copy number variants (CNVs) have a major role in the etiology of autism spectrum disorders (ASD), and several of these have reached statistical significance in case-control analyses. Nevertheless, current ASD cohorts are not large enough to detect ve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::c0b678836d7db3133783e5779682d08f
http://www.escholarship.org/uc/item/7036973c

Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

Autor: Anita Thapar, Lena Backlund, Lindsey Kent, Walter J. Muir, A. Jeremy Willsey, Sandra K. Loo, Michael Boehnke, Christa Lese Martin, Ania Korszun, Guiomar Oliveira, Veronica J. Vieland, Stephen W. Scherer, René S. Kahn, Darina Czamara, Jeremy R. Parr, Michael E. Goddard, Willem A. Nolen, Josep Antoni Ramos-Quiroga, Stephen Sanders, Karola Rehnstroem, Nelson B. Freimer, Erin N. Smith, Ann Olincy, Ingrid Melle, Myrna M. Weissman, James A. Knowles, William Byerley, Aravinda Chakravarti, Shaun Purcell, Jens Treutlein, Sebastian Zoellner, Hakon Hakonarson, Susanne Lucae, Markus M. Noethen, Ian B. Hickie, Marion Friedl, Srinivasa Thirumalai, Stephen Newhouse, Joseph Piven, Andrew M. McIntosh, Cathryn M. Lewis, Srdjan Djurovic, Francis J. McMahon, Ayman H. Fanous, Bernie Devlin, Steven A. McCarroll, Alan F. Schatzberg, Peter Szatmari, Marta Ribasés, C. Robert Cloninger, Brenda W.J.H. Penninx, Gerard van Grootheest, Phil Lee, Richard Anney, Elaine K. Green, Geraldine Dawson, Joseph A. Sergeant, Digby Quested, Magdalena Gross, Jack D. Barchas, Nicholas G. Martin, Timothy W. Yu, Jouke-Jan Hottenga, Mark Lathrop, Federica Tozzi, Martin Hautzinger, Alysa E. Doyle, Cinnamon S. Bloss, Sandra Meier, Louise Gailagher, David A. Collier, Farooq Amin, Michael C. Neale, Martin Schalling, Lieuwe de Haan, Bru Cormand, Falk W. Lohoff, Jennifer Crosbie, Howard J. Edenberg, Aarno Palotie, Johannes H. Smit, Robert Freedman, Katherine Gordon-Smith, Michele L. Pergadia, Enda M. Byrne, Hans-Christoph Steinhausen, Benjamin M. Neale, Anjali K. Henders, Michele T. Pato, Manuel Mattheisen, Urban Ösby, Edward M. Scolnick, Evaristus A. Nwulia, Fritz Poustka, Gonneke Willemsen, Andrew C. Heath, David St. Cair, Emma M. Quinn, I. Nicol Ferrier, John R. Kelsoe, Vanessa Hus, Andrew McQuillin, John P. Rice, William M. McMahon, Joseph Biederman, Danyu Lin, Wolfgang Maier, Frans G. Zitman, Josephine Elia, Nicholas J. Schork, Stéphane Jamain, Lizzy Rossin, Jubao Duan, Ingrid Agartz, Devin Absher, Jordan W. Smoller, Matthew W. State, Richard M. Myers, Shrikant Mane, Carlos N. Pato, William E. Bunney, Marian L. Hamshere, Manfred Uhr, Nicholas John Craddock, Astrid M. Vicente, Tobias Banaschewski, David Curtis, Anne Farmer, Scott D. Gordon, Anna K. Kaehler, Eric M. Morrow, Marcella Rietschel, Patrik K. E. Magnusson, Klaus-Peter Lesch, Rebecca McKinney, Jana Strohmaier, Thomas F. Wienker, Pablo V. Gejman, Douglas Blackwood, Maria Helena Pinto de Azevedo, Tiffany A. Greenwood, Don H. Linszen, Daniel L. Koller, Richard Bruggeman, Vinay Puri, Naomi R. Wray, Stanley J. Watson, Elena Maestrini, Valentina Moskvina, Frank Dudbridge, Danielle Posthuma, Edward G. Jones, Lambertus Klei, Sarah E. Bergen, Fan Meng, Steven P. Hamilton, Guy A. Rouleau, Pierandrea Muglia, Mikael Landén, Stephanie H. Witt, Laramie E. Duncan, Stanley Zammit, Judith A. Badner, Florian Holsboer, Eco J. C. de Geus, Daniel Moreno-De-Luca, Benjamin S. Pickard, Gunnar Morken, Michael Conlon O'Donovan, Michael Steffens, Kathryn Roeder, Dorret I. Boomsma, Paul D. Shilling, Stephan Ripke, Nigel Williams, Jeremy M. Silverman, David Craig, Mark J. Daly, Michael Bauer, Detelina Grozeva, Markus J. Schwarz, Peter Holmans, Hugh Gurling, T. Scott Stroup, Aribert Rothenberger, Gary Donohoe, Eric Fombonne, Joseph D. Buxbaum, Matthew Flicldnger, Bryan J. Mowry, Thomas Hansen, Ina Giegling, Grant W. Montgomery, Caroline M. Nievergelt, Susan L. Smalley, Jung-Ying Tzeng, David H. Ledbetter, Christopher A. Walsh, Gerard D. Schellenberg, Sarah E. Medland, Robert D. Oades, James B. Potash, Dan E. Arking, Johannes Schumacher, Michael Gill, James J. McGough, Jennifer L. Moran, Donald W. Black, Sian Caesar, Neelroop N. Parikshak, Ian W. Craig, Sabine M. Klauck, Wade H. Berrettini, T. Foroud, Peter P. Zandi, Inez Myin-Germeys, Marcus Ising, Sven Cichon, Alexandre A. Todorov, Mònica Bayés, Thomas Werge, Susan L. Slager, Stanley I. Shyn, Jim van Os, Derek W. Morris, Douglas M. Ruderfer, Thomas W. Muehleisen, Matthew C. Keller, Susmita Datta, Ian Jones, John B. Vincent, James L. Kennedy, Anthony P. Monaco, Jianxin Shi, Dale R. Nyholt, Bruno Etain, Christine Fraser, Paul Cormican, Miguel Casas, Radhika Kandaswamy, Gerome Breen, Stephen V. Faraone, Jonna Kuntsi, Thomas Bettecken, Witte J.G. Hoogendijk, Nancy G. Buccola, Franziska Degenhardt, Lyudmila Georgieva, Marion Leboyer, Alan R. Sanders, John Strauss, Dan Rujescu, Russell Schachar, Helena Medeiros, Lisa Jones, Peter M. Visscher, Lauren A. Weiss, René Breuer, John I. Nurnberger, Andreas Reif, Phoenix Kwan, Vihra Milanova, Chunyu Liu, Martin A. Kohli, Donald J. MacIntyre, Nicholas Bass, Khalid Choudhury, Edwin H. Cook, Catherine Lord, Andrew D. Paterson, Jobst Meyer, Richard P. Ebstein, Zhaoming Zhao, Niklas Laengstroem, Thomas G. Schulze, Peter Propping, Wei Xu, Robert C. Thompson, Kimberly Chambert, Jonathan Pimm, Ivan Nikolov, Pamela A. F. Madden, Kevin A. McGhee, Jacob Lawrence, Jan K. Buitelaar, Andres Ingason, Christine M. Freitag, Robert Krasucki, Wiepke Cahn, Rita M. Cantor, Christina M. Hultman, Melvin G. McInnis, Catalina Betancur, Eftichia Duketis, Michael T. Murtha, Thomas H. Wassink, Philip Asherson, John S. Witte, Elaine Kenny, Edmund J.S. Sonuga-Barke, Lydia Krabbendam, Line Olsen, Agatino Battaglia, Laura J. Scott, Annette M. Hartmann, Yunjung Kim, Richard O. Day, Edwin J. C. G. van den Oord, Ole A. Andreassen, Herbert Roeyers, Michael John Owen, Colm O'Dushlaine, Peng Zhang, Morten Mattingsdal, Michael L. Cuccaro, Margaret A. Pericak-Vance, Joachim Hallmayer, Jun Li, Pamela B. Mahon, Elisabeth B. Binder, William A. Scheftner, Daniel H. Geschwind, Christel M. Middeldorp, Josef Frank, Keith Matthews, Jennifer K. Lowe, Paul Lichtenstein, Verneri Anttila, Pamela Sklar, Szabocls Szelinger, Roel A. Ophoff, Peter McGuffin, Stefan Herms, Bettina Konte, George Kirov, Hilary Coon, Maria Hipolito, Louise Frisén, Kenneth S. Kendler, Frank Bellivier, James S. Sutdiffe, Jeffrey A. Lieberman, Todd Lencz, Susanne Hoefels, Alan W. McLean, Barbara Franke, Huda Akil, Soumya Raychaudhuri, Ellen M. Wijsman, Vishwajit L. Nimgaonkar, Roy H. Perlis, Patrick J. McGrath, Susan L. Santangelo, William Coryell, Henrik B. Rasmussen, Weihua Guan, William Lawson, Elliot S. Gershon, Sean Ennis, Aiden Corvin, Allan H. Young, Thomas B. Barrett, Jonathan L. Haines, Douglas F. Levinson, Ana Miranda, Anil K. Malhotra, S. Hong Lee, Stan F. Nelson, Anthony J. Bailey, Patrick F. Sullivan, Dorothy E. Grice, Lefkos T. Middleton, Bertram Mueller-Myhsok, Michael R. Barnes, Adebayo Anjorin

Publikováno v: BASE-Bielefeld Academic Search Engine
Network and Pathway Analysis Subgroup of the Psychiatric Genomics Consortium 2015, ' Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways ', Nature Neuroscience, vol. 18, no. 2, pp. 199-209 . https://doi.org/10.1038/nn.3922
Nature Neuroscience
Nature Neuroscience, Nature Publishing Group, 2015, 18 (2), pp.199-209. ⟨10.1038/nn.3922⟩
Nature Neuroscience, 18, 199-209
Nature Neuroscience, 18(2), 199-209. Nature Publishing Group
Nature Neuroscience, 18(2), 199-209
O’Dushlaine, C, Rossin, L, Lee, P H, Duncan, L, Parikshak, N N, Newhouse, S, Ripke, S, Neale, B M, Purcell, S M, Posthuma, D, Boomsma, D I, de Geus, E J C, Hottenga, J J, Krabbendam, A C, Middeldorp, C M, Penninx, B W J H, Sergeant, J A, Smit, J H, Grootheest, G, Willemsen, G, Holmes, P & Breen, G 2015, ' Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways ', Nature Neuroscience, vol. 18, no. 2, pp. 199-209 . https://doi.org/10.1038/nn.3922
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Nature neuroscience, vol 18, iss 2
Nature neuroscience, 18(2), 199-209. Nature Publishing Group
Recercat. Dipósit de la Recerca de Catalunya
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Nature Neuroscience, 18, 2, pp. 199-209
Nature neuroscience, 18(2), 199-209. NATURE AMERICA INC
O'Dushlaine, C, Rossin, L, Lee, P H, Duncan, L, Parikshak, N N, Newhouse, S, Ripke, S, Neale, B M, Purcell, S M, Posthuma, D, Nurnberger, J I, Lee, S H, Faraone, S V, Perlis, R H, Mowry, B J, Thapar, A, Goddard, M E, Witte, J S, Absher, D, Agartz, I, Akil, H, Amin, F, Andreassen, O A, Anjorin, A, Anney, R, Anttila, V, Arking, D E, Asherson, P, Azevedo, M H, Backlund, L, Badner, J A, Bailey, A J, Banaschewski, T, Barchas, J D, Barnes, M R, Barrett, T B, Bass, N, Battaglia, A, Bauer, M, Bayes, M, Bellivier, F, Bergen, S E, Berrettini, W, Betancur, C, Bettecken, T, Biederman, J, Binder, E B, Black, D W, Mattheisen, M, Meier, S, IIBDGC & Network & Pathway Anal Subgrp Psyc 2015, ' Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways ', Nature Neuroscience, vol. 18, no. 2, pp. 199-209 . https://doi.org/10.1038/nn.3922
Nature Neuroscience, 2015, 18 (2), pp.199-209. ⟨10.1038/nn.3922⟩
Dipòsit Digital de la UB
Universidad de Barcelona

G.B. and S.N. acknowledge funding support for this work from the National Institute for Health Research (NIHR) Mental Health Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King's College London. P.H.L. is supported b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe26241cfa978b89471038385188346d
https://hdl.handle.net/1887/101566

Oxytocin receptor controls distinct components of pair bonding and development in prairie voles.

Autor: Sharma R, Berendzen KM, Everitt A, Wang B, Williams G, Wang S, Quine K, Larios RD, Long KLP, Hoglen N, Sulaman BA, Heath MC, Sherman M, Klinkel R, Cai A, Galo D, Caamal LC, Goodwin NL, Beery A, Bales KL, Pollard KS, Willsey AJ, Manoli DS

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2024 Oct 28. Date of Electronic Publication: 2024 Oct 28.

Genome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome.

Autor: Tsetsos F; Department of Molecular Biology and Genetics, Democritus University of Thrace, Alexandroupolis, Greece., Topaloudi A; Department of Biological Sciences, Purdue University, West Lafayette, Indiana., Jain P; Department of Biological Sciences, Purdue University, West Lafayette, Indiana., Yang Z; Department of Biological Sciences, Purdue University, West Lafayette, Indiana., Yu D; Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Kolovos P; Department of Molecular Biology and Genetics, Democritus University of Thrace, Alexandroupolis, Greece., Tumer Z; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Rizzo R; Child and Adolescent Neurology and Psychiatry, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy., Hartmann A; Department of Neurology, Hôpital de la Pitié-Salpêtrière, Paris, France., Depienne C; Institute for Human Genetics, University Hospital Essen, Essen, Germany., Worbe Y; Assistance Publique Hôpitaux de Paris, Hôpital Saint-Antoine, Paris, France; French Reference Centre for Gilles de la Tourette Syndrome, Sorbonne University, Faculty of Medicine, Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Müller-Vahl KR; Department of Psychiatry, Social Psychiatry and Psychotherapy, Hannover Medical School, Hannover, Germany., Cath DC; Department of Clinical and Health Psychology, Utrecht University, Utrecht, Netherlands., Boomsma DI; Institute for Anatomy and Cell Biology, Ulm University, Ulm, Germany; EMGO+ Institute for Health and Care Research, VU University Medical Centre, Amsterdam, the Netherlands., Wolanczyk T; Department of Child Psychiatry, Medical University of Warsaw, Warsaw, Poland., Zekanowski C; Department of Neurogenetics and Functional Genomics, Mossakowski Medical Research Institute, Polish Academy of Sciences, Warsaw, Poland., Barta C; Department of Molecular Biology, Institute of Biochemistry and Molecular Biology, Semmelweis Egyetem, Budapest, Hungary., Nemoda Z; Department of Molecular Biology, Institute of Biochemistry and Molecular Biology, Semmelweis Egyetem, Budapest, Hungary., Tarnok Z; Vadaskert Clinic for Child and Adolescent Psychiatry, Budapest, Hungary., Padmanabhuni SS; Department of Biological Sciences, Purdue University, West Lafayette, Indiana., Buxbaum JD; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York., Grice D; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York; Division of Tics, OCD, and Related Disorders, Icahn School of Medicine at Mount Sinai, New York, New York., Glennon J; Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Stefansson H; deCODE Genetics, Amgen, Iceland., Hengerer B; Boehringer Ingelheim Pharma GmbH & Co. KG, CNS Research, Biberach, Germany., Yannaki E; Hematology Department, Hematopoietic Cell Transplantation Unit, Gene and Cell Therapy Center, George Papanikolaou Hospital, Thessaloniki, Greece; Department of Medicine, University of Washington, Seattle, Washington., Stamatoyannopoulos JA; Altius Institute for Biomedical Sciences, Seattle, Washington; Department of Genome Sciences, University of Washington, Seattle, Washington; Department of Medicine, Division of Oncology, University of Washington, Seattle, Washington., Benaroya-Milshtein N; Child and Adolescent Psychiatry Department, Schneider Children's Medical Center of Israel, Petah-Tikva. Affiliated to Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Cardona F; Department of Human Neurosciences, University La Sapienza of Rome, Rome, Italy., Hedderly T; Evelina London Children's Hospital GSTT, Kings Health Partners AHSC, London, UK., Heyman I; Psychological Medicine, Great Ormond Street Hospital NHS Foundation Trust, London, UK., Huyser C; Levvel Academic Center for Child and Adolescent Psychiatry, Amsterdam, the Netherlands; Amsterdam UMC, Department of Child and Adolescent Psychiatry, Amsterdam, the Netherlands., Mir P; Unidad de Trastornos del Movimiento, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain., Morer A; Department of Child and Adolescent Psychiatry and Psychology, Institute of Neurosciences, Hospital Clinic Universitari, Barcelona, Spain; Institut d'Investigacions Biomediques August Pi i Sunyer, Barcelona, Spain; Centro de Investigacion en Red de Salud Mental, Instituto Carlos III, Madrid, Spain., Mueller N; Department of Psychiatry and Psychotherapy, University Hospital, LMU Munich, Munich, Germany., Munchau A; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany., Plessen KJ; Child and Adolescent Mental Health Centre, Mental Health Services, Capital Region of Denmark and University of Copenhagen, Copenhagen, Denmark; Division of Child and Adolescent Psychiatry, Department of Psychiatry, Lausanne University Hospital, Lausanne, Switzerland., Porcelli C; ASL BA, Maternal and Childood Department, Adolescence and Childhood Neuropsychiatry Unit, Bari, Italy., Roessner V; Department of Child and Adolescent Psychiatry, Medical Faculty Carl Gustav Carus, TU Dresden, Dresden, Germany., Walitza S; Department of Child and Adolescent Psychiatry and Psychotherapy, University of Zürich, Zurich, Switzerland., Schrag A; Department of Clinical Neuroscience, UCL Institute of Neurology, University College London, London, UK., Martino D; Department of Clinical Neurosciences, Cumming School of Medicine & Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada., Tischfield JA; Department of Genetics and the Human Genetics Institute of New Jersey, Rutgers, the State University of New Jersey, Piscataway, New Jersey., Heiman GA; Department of Genetics and the Human Genetics Institute of New Jersey, Rutgers, the State University of New Jersey, Piscataway, New Jersey., Willsey AJ; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, California; Quantitative Biosciences Institute, University of California, San Francisco, San Francisco, California., Dietrich A; University of Groningen, University Medical Center Groningen, Department of Child and Adolescent Psychiatry, Groningen, the Netherlands., Davis LK; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center Nashville, Nashville, Tennessee; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, Tennessee., Crowley JJ; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden; Department of Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina., Mathews CA; Department of Psychiatry and Genetics Institute, University of Florida College of Medicine, Gainesville, Florida., Scharf JM; Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, Massachusetts; Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts., Georgitsi M; 1st Laboratory of Medical Biology-Genetics, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece., Hoekstra PJ; University of Groningen, University Medical Center Groningen, Department of Child and Adolescent Psychiatry, Groningen, the Netherlands. Electronic address: p.hoekstra@accare.nl., Paschou P; Department of Biological Sciences, Purdue University, West Lafayette, Indiana. Electronic address: ppaschou@purdue.edu.

Publikováno v: Biological psychiatry [Biol Psychiatry] 2024 Jul 15; Vol. 96 (2), pp. 114-124. Date of Electronic Publication: 2023 Feb 02.