Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder

Autor: Ada J. S. Chan, Worrawat Engchuan, Miriam S. Reuter, Zhuozhi Wang, Bhooma Thiruvahindrapuram, Brett Trost, Thomas Nalpathamkalam, Carol Negrijn, Sylvia Lamoureux, Giovanna Pellecchia, Rohan V. Patel, Wilson W. L. Sung, Jeffrey R. MacDonald, Jennifer L. Howe, Jacob Vorstman, Neal Sondheimer, Nicole Takahashi, Judith H. Miles, Evdokia Anagnostou, Kristiina Tammimies, Mehdi Zarrei, Daniele Merico, Dimitri J. Stavropoulos, Ryan K. C. Yuen, Bridget A. Fernandez, Stephen W. Scherer

Publikováno v: Nature Communications, Vol 13, Iss 1, Pp 1-16 (2022)

Morphological subtypes of autism spectrum disorder (ASD) may differ in their genetic bases. Chan et al. develop a method for calculating a patient-level, genome-wide rare variant score and find significant differences in rare and common variant assoc

Externí odkaz: https://doaj.org/article/daff05382e894c1ca9c8df1af30b6dc7

Gene copy number variation in pediatric mental illness in a general population

Autor: Mehdi Zarrei, Christie L. Burton, Worrawat Engchuan, Edward J Higginbotham, John Wei, Sabah Shaikh, Nicole M. Roslin, Jeffrey R. MacDonald, Giovanna Pellecchia, Thomas Nalpathamkalam, Sylvia Lamoureux, Roozbeh Manshaei, Jennifer Howe, Brett Trost, Bhooma Thiruvahindrapuram, Christian R. Marshall, Ryan K.C. Yuen, Richard F. Wintle, Lisa J Strug, Dimitri J. Stavropoulos, Jacob A.S. Vorstman, Paul Arnold, Daniele Merico, Marc Woodbury-Smith, Jennifer Crosbie, Russell Schachar, Stephen W. Scherer

We assessed the relationship of gene copy number variation (CNV) in mental health/neurodevelopmental traits and diagnoses, physical health, and cognitive biomarkers in a community sample of 7,100 unrelated European, and East Asian children and youth

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::27bad47117de3a4ac65525ca3c63401a
https://doi.org/10.1101/2022.09.12.22279764

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

Genomic architecture of autism from comprehensive whole-genome sequence annotation

Autor: Brett Trost, Bhooma Thiruvahindrapuram, Ada J.S. Chan, Worrawat Engchuan, Edward J. Higginbotham, Jennifer L. Howe, Livia O. Loureiro, Miriam S. Reuter, Delnaz Roshandel, Joe Whitney, Mehdi Zarrei, Matthew Bookman, Cherith Somerville, Rulan Shaath, Mona Abdi, Elbay Aliyev, Rohan V. Patel, Thomas Nalpathamkalam, Giovanna Pellecchia, Omar Hamdan, Gaganjot Kaur, Zhuozhi Wang, Jeffrey R. MacDonald, John Wei, Wilson W.L. Sung, Sylvia Lamoureux, Ny Hoang, Thanuja Selvanayagam, Nicole Deflaux, Melissa Geng, Siavash Ghaffari, John Bates, Edwin J. Young, Qiliang Ding, Carole Shum, Lia D'Abate, Clarrisa A. Bradley, Annabel Rutherford, Vernie Aguda, Beverly Apresto, Nan Chen, Sachin Desai, Xiaoyan Du, Matthew L.Y. Fong, Sanjeev Pullenayegum, Kozue Samler, Ting Wang, Karen Ho, Tara Paton, Sergio L. Pereira, Jo-Anne Herbrick, Richard F. Wintle, Jonathan Fuerth, Juti Noppornpitak, Heather Ward, Patrick Magee, Ayman Al Baz, Usanthan Kajendirarajah, Sharvari Kapadia, Jim Vlasblom, Monica Valluri, Joseph Green, Vicki Seifer, Morgan Quirbach, Olivia Rennie, Elizabeth Kelley, Nina Masjedi, Catherine Lord, Michael J. Szego, Ma'n H. Zawati, Michael Lang, Lisa J. Strug, Christian R. Marshall, Gregory Costain, Kristina Calli, Alana Iaboni, Afiqah Yusuf, Patricia Ambrozewicz, Louise Gallagher, David G. Amaral, Jessica Brian, Mayada Elsabbagh, Stelios Georgiades, Daniel S. Messinger, Sally Ozonoff, Jonathan Sebat, Calvin Sjaarda, Isabel M. Smith, Peter Szatmari, Lonnie Zwaigenbaum, Azadeh Kushki, Thomas W. Frazier, Jacob A.S. Vorstman, Khalid A. Fakhro, Bridget A. Fernandez, M.E. Suzanne Lewis, Rosanna Weksberg, Marc Fiume, Ryan K.C. Yuen, Evdokia Anagnostou, Neal Sondheimer, David Glazer, Dean M. Hartley, Stephen W. Scherer

Publikováno v: Cell. 185:4409-4427.e18

Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource, which includes WGS data from 5,100 individuals with ASD and 6,212 non-ASD parents a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04ad9e408a13971a4d30b81a0b6b80b6
https://doi.org/10.1016/j.cell.2022.10.009

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