Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development

Autor: Yuqi Qiu, Thomas Arbogast, Sandra Martin Lorenzo, Hongying Li, Shih C. Tang, Ellen Richardson, Oanh Hong, Shawn Cho, Omar Shanta, Timothy Pang, Christina Corsello, Curtis K. Deutsch, Claire Chevalier, Erica E. Davis, Lilia M. Iakoucheva, Yann Herault, Nicholas Katsanis, Karen Messer, Jonathan Sebat

Publikováno v: Cell Reports, Vol 28, Iss 13, Pp 3320-3328.e4 (2019)

Summary: A copy-number variant (CNV) of 16p11.2 encompassing 30 genes is associated with developmental and psychiatric disorders, head size, and body mass. The genetic mechanisms that underlie these associations are not understood. To determine the i

Externí odkaz: https://doaj.org/article/0bd3dfb14b7c4ee782858365d116b4aa

Rare copy number variation in posttraumatic stress disorder

Autor: Adam X, Maihofer, Worrawat, Engchuan, Guillaume, Huguet, Marieke, Klein, Jeffrey R, MacDonald, Omar, Shanta, Bhooma, Thiruvahindrapuram, Martineau, Jean-Louis, Zohra, Saci, Sebastien, Jacquemont, Stephen W, Scherer, Elizabeth, Ketema, Allison E, Aiello, Ananda B, Amstadter, Esmina, Avdibegović, Dragan, Babic, Dewleen G, Baker, Jonathan I, Bisson, Marco P, Boks, Elizabeth A, Bolger, Richard A, Bryant, Angela C, Bustamante, Jose Miguel, Caldas-de-Almeida, Graça, Cardoso, Jurgen, Deckert, Douglas L, Delahanty, Katharina, Domschke, Boadie W, Dunlop, Alma, Dzubur-Kulenovic, Alexandra, Evans, Norah C, Feeny, Carol E, Franz, Aarti, Gautam, Elbert, Geuze, Aferdita, Goci, Rasha, Hammamieh, Miro, Jakovljevic, Marti, Jett, Ian, Jones, Milissa L, Kaufman, Ronald C, Kessler, Anthony P, King, William S, Kremen, Bruce R, Lawford, Lauren A M, Lebois, Catrin, Lewis, Israel, Liberzon, Sarah D, Linnstaedt, Bozo, Lugonja, Jurjen J, Luykx, Michael J, Lyons, Matig R, Mavissakalian, Katie A, McLaughlin, Samuel A, McLean, Divya, Mehta, Rebecca, Mellor, Charles Phillip, Morris, Seid, Muhie, Holly K, Orcutt, Matthew, Peverill, Andrew, Ratanatharathorn, Victoria B, Risbrough, Albert, Rizzo, Andrea L, Roberts, Alex O, Rothbaum, Barbara O, Rothbaum, Peter, Roy-Byrne, Kenneth J, Ruggiero, Bart P F, Rutten, Dick, Schijven, Julia S, Seng, Christina M, Sheerin, Michael A, Sorenson, Martin H, Teicher, Monica, Uddin, Robert J, Ursano, Christiaan H, Vinkers, Joanne, Voisey, Heike, Weber, Sherry, Winternitz, Miguel, Xavier, Ruoting, Yang, Ross, McD Young, Lori A, Zoellner, Rany M, Salem, Richard A, Shaffer, Tianying, Wu, Kerry J, Ressler, Murray B, Stein, Karestan C, Koenen, Jonathan, Sebat, Caroline M, Nievergelt

Publikováno v: Molecular Psychiatry, 27(12), 5062-5069. Nature Publishing Group
Psychiatric Genomics Consortium PTSD Working Group & Psychiatric Genomics Consortium CNV Working Group 2022, ' Rare copy number variation in posttraumatic stress disorder ', Molecular Psychiatry, vol. 27, no. 12, pp. 5062-5069 . https://doi.org/10.1038/s41380-022-01776-4

Funding Information: This work was supported by the National Institute of Mental Health/U.S. Army Medical Research and Development Command (Grant No. R01MH106595 [to CMN, MBS, KJRe, and KCK]), and National Institutes of Health (Grant No. 5U01MH109539

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fac5229569a511ea0b2225bd0d8dec9
https://pubmed.ncbi.nlm.nih.gov/36131047

11. ANALYSIS OF GENOMIC COPY NUMBER VARIATION AND THEIR INTERACTION WITH POLYGENIC RISK SCORES ACROSS PSYCHIATRIC DISORDERS

Autor: Alexander W. Charney, Jonathan Sebat, Jeffrey R. MacDonald, Elise Douard, Stanley Letovsky, Stephen W. Scherer, Omar Shanta, Sébastien Jacquemont, Agathe de Pins, Bhooma Thiruvahindrapuram, Marieke Klein, Oanh Hong, Jake Humphrey

Publikováno v: European Neuropsychopharmacology. 51:e45-e46

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5c47cc58841c3c5e2855c4a0d34d8495
https://doi.org/10.1016/j.euroneuro.2021.07.103

ANALYSIS OF COPY NUMBER VARIATION ACROSS THE MAJOR PSYCHIATRIC DISORDERS: BIPOLAR DISORDER, SCHIZOPHRENIA, AND AUTISM SPECTRUM DISORDER

Autor: Omar Shanta, Jeffrey R. MacDonald, Bank Engchuan, Jonathan Sebat, Marieke Klein, Bhooma Thiruvahindrapuram

Publikováno v: European Neuropsychopharmacology. 51:e24

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::360ce12a14e0e0371b3b780c661ce6ee
https://doi.org/10.1016/j.euroneuro.2021.07.058

Oligogenic effects of 16p11.2 copy number variation on craniofacial development

Autor: Lilia M. Iakoucheva, Curtis K. Deutsch, Yann Herault, Sandra Martin Lorenzo, Erica E. Davis, Hongying Li, Omar Shanta, Pang Timothy, Oanh Hong, Christina Corsello, Ellen Richardson, Yuqi Qiu, Shawn Cho, Jonathan Sebat, Karen Messer, Shih C. Tang, Thomas Arbogast, Nicholas Katsanis, Claire Chevalier

A copy number variant (CNV) of 16p11.2, which encompasses 30 genes, is associated with developmental and psychiatric disorders, head size and body mass. The genetic mechanisms that underlie these associations are not understood. To elucidate the effe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::998f57a3acfd7d322a251781341c0035