Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Autistic Disorder/genetics"'
Autor:
Erin Rooney Riggs, Taylor I. Bingaman, Carrie-Ann Barry, Andrea Behlmann, Krista Bluske, Bret Bostwick, Alison Bright, Chun-An Chen, Amanda R. Clause, Avinash V. Dharmadhikari, Mythily Ganapathi, Claudia Gonzaga-Jauregui, Andrew R. Grant, Madeline Y. Hughes, Se Rin Kim, Amanda Krause, Jun Liao, Aimé Lumaka, Michelle Mah, Caitlin M. Maloney, Shruthi Mohan, Ikeoluwa A. Osei-Owusu, Emma Reble, Olivia Rennie, Juliann M. Savatt, Hermela Shimelis, Rebecca K. Siegert, Tam P. Sneddon, Courtney Thaxton, Kelly A. Toner, Kien Trung Tran, Ryan Webb, Emma H. Wilcox, Jiani Yin, Xinming Zhuo, Masa Znidarsic, Christa Lese Martin, Catalina Betancur, Jacob A.S. Vorstman, David T. Miller, Christian P. Schaaf
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 2022, 24 (9), pp.1899-1908. ⟨10.1016/j.gim.2022.05.001⟩
Genetics in Medicine, 2022, 24 (9), pp.1899-1908. ⟨10.1016/j.gim.2022.05.001⟩
International audience; Purpose: Neurodevelopmental disorders (NDDs), such as intellectual disability (ID) and autism spectrum disorder (ASD), exhibit genetic and phenotypic heterogeneity, making them difficult to differentiate without a molecular di
Autor:
Alexander J. M. Dingemans, Kim M. G. Truijen, Sam van de Ven, Raphael Bernier, Ernie M. H. F. Bongers, Arjan Bouman, Laura de Graaff – Herder, Evan E. Eichler, Erica H. Gerkes, Christa M. De Geus, Johanna M. van Hagen, Philip R. Jansen, Jennifer Kerkhof, Anneke J. A. Kievit, Tjitske Kleefstra, Saskia M. Maas, Stella A. de Man, Haley McConkey, Wesley G. Patterson, Amy T. Dobson, Eloise J. Prijoles, Bekim Sadikovic, Raissa Relator, Roger E. Stevenson, Connie T. R. M. Stumpel, Malou Heijligers, Kyra E. Stuurman, Katharina Löhner, Shimriet Zeidler, Jennifer A. Lee, Amanda Lindy, Fanggeng Zou, Matthew L. Tedder, Lisenka E. L. M. Vissers, Bert B. A. de Vries
Publikováno v:
Translational psychiatry, 12(1):421
Dingemans, A J M, Truijen, K M G, van de Ven, S, Bernier, R, Bongers, E M H F, Bouman, A, de Graaff – Herder, L, Eichler, E E, Gerkes, E H, De Geus, C M, van Hagen, J M, Jansen, P R, Kerkhof, J, Kievit, A J A, Kleefstra, T, Maas, S M, de Man, S A, McConkey, H, Patterson, W G, Dobson, A T, Prijoles, E J, Sadikovic, B, Relator, R, Stevenson, R E, Stumpel, C T R M, Heijligers, M, Stuurman, K E, Löhner, K, Zeidler, S, Lee, J A, Lindy, A, Zou, F, Tedder, M L, Vissers, L E L M & de Vries, B B A 2022, ' The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8 ', Translational Psychiatry, vol. 12, 421, pp. 1-11 . https://doi.org/10.1038/s41398-022-02189-1
Translational Psychiatry, 12:421, 1-11. Nature Publishing Group
Translational Psychiatry, 12(1):421. Nature Publishing Group
Dingemans, A J M, Truijen, K M G, van de Ven, S, Bernier, R, Bongers, E M H F, Bouman, A, de Graaff – Herder, L, Eichler, E E, Gerkes, E H, de Geus, C M, van Hagen, J M, Jansen, P R, Kerkhof, J, Kievit, A J A, Kleefstra, T, Maas, S M, de Man, S A, McConkey, H, Patterson, W G, Dobson, A T, Prijoles, E J, Sadikovic, B, Relator, R, Stevenson, R E, Stumpel, C T R M, Heijligers, M, Stuurman, K E, Löhner, K, Zeidler, S, Lee, J A, Lindy, A, Zou, F, Tedder, M L, Vissers, L E L M & de Vries, B B A 2022, ' The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8 ', Translational psychiatry, vol. 12, no. 1, 421 . https://doi.org/10.1038/s41398-022-02189-1
Translational Psychiatry, 12, 1
Translational Psychiatry, 12
Translational psychiatry, 12(1):421. Nature Publishing Group
Dingemans, A J M, Truijen, K M G, van de Ven, S, Bernier, R, Bongers, E M H F, Bouman, A, de Graaff – Herder, L, Eichler, E E, Gerkes, E H, De Geus, C M, van Hagen, J M, Jansen, P R, Kerkhof, J, Kievit, A J A, Kleefstra, T, Maas, S M, de Man, S A, McConkey, H, Patterson, W G, Dobson, A T, Prijoles, E J, Sadikovic, B, Relator, R, Stevenson, R E, Stumpel, C T R M, Heijligers, M, Stuurman, K E, Löhner, K, Zeidler, S, Lee, J A, Lindy, A, Zou, F, Tedder, M L, Vissers, L E L M & de Vries, B B A 2022, ' The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8 ', Translational Psychiatry, vol. 12, 421, pp. 1-11 . https://doi.org/10.1038/s41398-022-02189-1
Translational Psychiatry, 12:421, 1-11. Nature Publishing Group
Translational Psychiatry, 12(1):421. Nature Publishing Group
Dingemans, A J M, Truijen, K M G, van de Ven, S, Bernier, R, Bongers, E M H F, Bouman, A, de Graaff – Herder, L, Eichler, E E, Gerkes, E H, de Geus, C M, van Hagen, J M, Jansen, P R, Kerkhof, J, Kievit, A J A, Kleefstra, T, Maas, S M, de Man, S A, McConkey, H, Patterson, W G, Dobson, A T, Prijoles, E J, Sadikovic, B, Relator, R, Stevenson, R E, Stumpel, C T R M, Heijligers, M, Stuurman, K E, Löhner, K, Zeidler, S, Lee, J A, Lindy, A, Zou, F, Tedder, M L, Vissers, L E L M & de Vries, B B A 2022, ' The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8 ', Translational psychiatry, vol. 12, no. 1, 421 . https://doi.org/10.1038/s41398-022-02189-1
Translational Psychiatry, 12, 1
Translational Psychiatry, 12
Translational psychiatry, 12(1):421. Nature Publishing Group
CHD8, a major autism gene, functions in chromatin remodelling and has various roles involving several biological pathways. Therefore, unsurprisingly, previous studies have shown that intellectual developmental disorder with autism and macrocephaly (I
Autor:
Weiner, Daniel J., Ling, Emi, Erdin, Serkan, Tai, Derek J. C., Yadav, Rachita, Grove, Jakob, Fu, Jack M., Nadig, Ajay, Carey, Caitlin E., Baya, Nikolas, Bybjerg-Grauholm, Jonas, Mortensen, Preben B., Werge, Thomas, Demontis, Ditte, Mors, Ole, Nordentoft, Merete, Als, Thomas D., Baekvad-Hansen, Marie, Rosengren, Anders, Havdahl, Alexandra, Hedemand, Anne, Palotie, Aarno, Chakravarti, Aravinda, Arking, Dan, Sulovari, Arvis, Starnawska, Anna, Thiruvahindrapuram, Bhooma, de Leeuw, Christiaan, Carey, Caitlin, Ladd-Acosta, Christine, van der Merwe, Celia, Devlin, Bernie, Cook, Edwin H., Eichler, Evan, Corfield, Elisabeth, Dieleman, Gwen, Schellenberg, Gerard, Hakonarson, Hakon, Coon, Hilary, Dziobek, Isabel, Vorstman, Jacob, Girault, Jessica, Sutcliffe, James S., Duan, Jinjie, Nurnberger, John, Hallmayer, Joachim, Buxbaum, Joseph, Piven, Joseph, Weiss, Lauren, Davis, Lea, Janecka, Magdalena, Mattheisen, Manuel, State, Matthew W., Gill, Michael, Daly, Mark, Uddin, Mohammed, Andreassen, Ole, Szatmari, Peter, Lee, Phil Hyoun, Anney, Richard, Ripke, Stephan, Satterstrom, Kyle, Santangelo, Susan, Kuo, Susan, van Elst, Ludger Tebartz, Rolland, Thomas, Bougeron, Thomas, Polderman, Tinca, Turner, Tychele, Underwood, Jack, Manikandan, Veera, Pillalamarri, Vamsee, Warrier, Varun, Philipsen, Alexandra, Reif, Andreas, Hinney, Anke, Cormand, Bru, Bau, Claiton H. D., Rovaris, Diego Luiz, Sonuga-Barke, Edmund, Corfield, Elizabeth, Grevet, Eugenio Horacio, Salum, Giovanni, Larsson, Henrik, Buitelaar, Jan, Haavik, Jan, McGough, James, Kuntsi, Jonna, Elia, Josephine, Lesch, Klaus-Peter, Klein, Marieke, Bellgrove, Mark, Tesli, Martin, Leung, Patrick W. L., Pan, Pedro M., Dalsgaard, Soren, Loo, Sandra, Medland, Sarah, Faraone, Stephen V., Reichborn-Kjennerud, Ted, Banaschewski, Tobias, Hawi, Ziarih, Berretta, Sabina, Macosko, Evan Z., Sebat, Jonathan, O’Connor, Luke J., Hougaard, David M., Børglum, Anders D., Talkowski, Michael E., McCarroll, Steven A., Robinson, Elise B.
Publikováno v:
Nature Genetics, 54(11), 1630-1639. Nature Publishing Group
Nature Genetics
Weiner, D J, Ling, E, Erdin, S, Tai, D J C, Yadav, R, Grove, J, Fu, J M, Nadig, A, Carey, C E, Baya, N, Bybjerg-Grauholm, J, Mortensen, P B, Werge, T, Demontis, D, Mors, O, Nordentoft, M, Als, T D, Baekvad-Hansen, M, Rosengren, A, Havdahl, A, Hedemand, A, Palotie, A, Chakravarti, A, Arking, D, Sulovari, A, Starnawska, A, Thiruvahindrapuram, B, de Leeuw, C, Carey, C, Ladd-Acosta, C, van der Merwe, C, Devlin, B, Cook, E H, Eichler, E, Corfield, E, Dieleman, G, Schellenberg, G, Hakonarson, H, Coon, H, Dziobek, I, Vorstman, J, Girault, J, Sutcliffe, J S, Duan, J, Nurnberger, J, Hallmayer, J, Buxbaum, J, Piven, J, Weiss, L, Davis, L, Janecka, M, Mattheisen, M, State, M W, Gill, M, Daly, M, Uddin, M, Andreassen, O, Szatmari, P, Lee, P H, Anney, R, Ripke, S, Satterstrom, K, Santangelo, S, Kuo, S, van Elst, L T, Rolland, T, Bougeron, T, Polderman, T, Turner, T, Underwood, J, Manikandan, V, Pillalamarri, V, Warrier, V, Philipsen, A, Reif, A, Hinney, A, Cormand, B, Bau, C H D, Rovaris, D L, Sonuga-Barke, E, Corfield, E, Grevet, E H, Salum, G, Larsson, H, Buitelaar, J, Haavik, J, McGough, J, Kuntsi, J, Elia, J, Lesch, K-P, Klein, M, Bellgrove, M, Tesli, M, Leung, P W L, Pan, P M, Dalsgaard, S, Loo, S, Medland, S, iPSYCH Consortium, Faraone, S V, ASD Working Group of the Psychiatric Genomics Consortium, Reichborn-Kjennerud, T, ADHD Working Group of the Psychiatric Genomics Consortium, Banaschewski, T, Hawi, Z, Berretta, S, Macosko, E Z, Sebat, J, O’Connor, L J, Hougaard, D M, Børglum, A D, Talkowski, M E, McCarroll, S A & Robinson, E B 2022, ' Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p ', Nature Genetics, vol. 54, no. 11, pp. 1630-1639 . https://doi.org/10.1038/s41588-022-01203-y
Weiner, D J, Ling, E, Erdin, S, Tai, D J C, Yadav, R, Grove, J, Fu, J M, Nadig, A, Carey, C, Baya, N, Bybjerg-Grauholm, J, Mortensen, P B, Werge, T, Demontis, D, Mors, O, Nordentoft, M, Als, T D, Baekvad-Hansen, M, Rosengren, A, Havdahl, A, Hedemand, A, Palotie, A, Chakravarti, A, Arking, D, Sulovari, A, Starnawska, A, Thiruvahindrapuram, B, de Leeuw, C, Carey, C, Ladd-Acosta, C, van der Merwe, C, Devlin, B, Cook, E H, Eichler, E, Corfield, E, Dieleman, G, Schellenberg, G, Hakonarson, H, Coon, H, Dziobek, I, Vorstman, J, Girault, J, Sutcliffe, J S, Duan, J, Nurnberger, J, Hallmayer, J, Buxbaum, J, Hinney, A, Larsson, H, Dalsgaard, S, iPSYCH Consortium, ASD Working Group of the Psychiatric Genomics Consortium & ADHD Working Group of the Psychiatric Genomics Consortium 2022, ' Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p ', Nature Genetics, vol. 54, pp. 1630-1639 . https://doi.org/10.1038/s41588-022-01203-y
Weiner, D J, Ling, E, Erdin, S, Tai, D J C, Yadav, R, Grove, J, Fu, J M, Nadig, A, Carey, C E, Baya, N, Bybjerg-Grauholm, J, iPSYCH Consortium, ASD Working Group of the Psychiatric Genomics Consortium, ADHD Working Group of the Psychiatric Genomics Consortium, Berretta, S, Macosko, E Z, Sebat, J, O'Connor, L J, Hougaard, D M, Børglum, A D, Talkowski, M E, McCarroll, S A & Robinson, E B 2022, ' Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p ', Nature Genetics, vol. 54, no. 11, pp. 1630-1639 . https://doi.org/10.1038/s41588-022-01203-y
iPSYCH Consortium, ASD Working Group of the Psychiatric Genomics Consortium & ADHD Working Group of the Psychiatric Genomics Consortium 2022, ' Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p ', Nature genetics, vol. 54, no. 11, pp. 1630-1639 . https://doi.org/10.1038/s41588-022-01203-y
Nature genetics, 54(11), 1630-1639. Nature Publishing Group
Nature Genetics
Weiner, D J, Ling, E, Erdin, S, Tai, D J C, Yadav, R, Grove, J, Fu, J M, Nadig, A, Carey, C E, Baya, N, Bybjerg-Grauholm, J, Mortensen, P B, Werge, T, Demontis, D, Mors, O, Nordentoft, M, Als, T D, Baekvad-Hansen, M, Rosengren, A, Havdahl, A, Hedemand, A, Palotie, A, Chakravarti, A, Arking, D, Sulovari, A, Starnawska, A, Thiruvahindrapuram, B, de Leeuw, C, Carey, C, Ladd-Acosta, C, van der Merwe, C, Devlin, B, Cook, E H, Eichler, E, Corfield, E, Dieleman, G, Schellenberg, G, Hakonarson, H, Coon, H, Dziobek, I, Vorstman, J, Girault, J, Sutcliffe, J S, Duan, J, Nurnberger, J, Hallmayer, J, Buxbaum, J, Piven, J, Weiss, L, Davis, L, Janecka, M, Mattheisen, M, State, M W, Gill, M, Daly, M, Uddin, M, Andreassen, O, Szatmari, P, Lee, P H, Anney, R, Ripke, S, Satterstrom, K, Santangelo, S, Kuo, S, van Elst, L T, Rolland, T, Bougeron, T, Polderman, T, Turner, T, Underwood, J, Manikandan, V, Pillalamarri, V, Warrier, V, Philipsen, A, Reif, A, Hinney, A, Cormand, B, Bau, C H D, Rovaris, D L, Sonuga-Barke, E, Corfield, E, Grevet, E H, Salum, G, Larsson, H, Buitelaar, J, Haavik, J, McGough, J, Kuntsi, J, Elia, J, Lesch, K-P, Klein, M, Bellgrove, M, Tesli, M, Leung, P W L, Pan, P M, Dalsgaard, S, Loo, S, Medland, S, iPSYCH Consortium, Faraone, S V, ASD Working Group of the Psychiatric Genomics Consortium, Reichborn-Kjennerud, T, ADHD Working Group of the Psychiatric Genomics Consortium, Banaschewski, T, Hawi, Z, Berretta, S, Macosko, E Z, Sebat, J, O’Connor, L J, Hougaard, D M, Børglum, A D, Talkowski, M E, McCarroll, S A & Robinson, E B 2022, ' Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p ', Nature Genetics, vol. 54, no. 11, pp. 1630-1639 . https://doi.org/10.1038/s41588-022-01203-y
Weiner, D J, Ling, E, Erdin, S, Tai, D J C, Yadav, R, Grove, J, Fu, J M, Nadig, A, Carey, C, Baya, N, Bybjerg-Grauholm, J, Mortensen, P B, Werge, T, Demontis, D, Mors, O, Nordentoft, M, Als, T D, Baekvad-Hansen, M, Rosengren, A, Havdahl, A, Hedemand, A, Palotie, A, Chakravarti, A, Arking, D, Sulovari, A, Starnawska, A, Thiruvahindrapuram, B, de Leeuw, C, Carey, C, Ladd-Acosta, C, van der Merwe, C, Devlin, B, Cook, E H, Eichler, E, Corfield, E, Dieleman, G, Schellenberg, G, Hakonarson, H, Coon, H, Dziobek, I, Vorstman, J, Girault, J, Sutcliffe, J S, Duan, J, Nurnberger, J, Hallmayer, J, Buxbaum, J, Hinney, A, Larsson, H, Dalsgaard, S, iPSYCH Consortium, ASD Working Group of the Psychiatric Genomics Consortium & ADHD Working Group of the Psychiatric Genomics Consortium 2022, ' Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p ', Nature Genetics, vol. 54, pp. 1630-1639 . https://doi.org/10.1038/s41588-022-01203-y
Weiner, D J, Ling, E, Erdin, S, Tai, D J C, Yadav, R, Grove, J, Fu, J M, Nadig, A, Carey, C E, Baya, N, Bybjerg-Grauholm, J, iPSYCH Consortium, ASD Working Group of the Psychiatric Genomics Consortium, ADHD Working Group of the Psychiatric Genomics Consortium, Berretta, S, Macosko, E Z, Sebat, J, O'Connor, L J, Hougaard, D M, Børglum, A D, Talkowski, M E, McCarroll, S A & Robinson, E B 2022, ' Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p ', Nature Genetics, vol. 54, no. 11, pp. 1630-1639 . https://doi.org/10.1038/s41588-022-01203-y
iPSYCH Consortium, ASD Working Group of the Psychiatric Genomics Consortium & ADHD Working Group of the Psychiatric Genomics Consortium 2022, ' Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p ', Nature genetics, vol. 54, no. 11, pp. 1630-1639 . https://doi.org/10.1038/s41588-022-01203-y
Nature genetics, 54(11), 1630-1639. Nature Publishing Group
in press, weitere Verfasser:innen aus Einrichtungen außerhalb der Universität Duisburg-Essen sind nicht aufgeführt. The canonical paradigm for converting genetic association to mechanism involves iteratively mapping individual associations to the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bcf3982bc4fc5cf21c2b7660e0ef09e
https://research.vumc.nl/en/publications/4e6630bb-b283-4456-868d-7258b838f53d
https://research.vumc.nl/en/publications/4e6630bb-b283-4456-868d-7258b838f53d
Publikováno v:
Genome biology, vol. 23, no. 1, pp. 33
Genome Biology
Genome Biology, Vol 23, Iss 1, Pp 1-17 (2022)
Genome Biology
Genome Biology, Vol 23, Iss 1, Pp 1-17 (2022)
We consider an increasingly popular study design where single-cell RNA-seq data are collected from multiple individuals and the question of interest is to find genes that are differentially expressed between two groups of individuals. Towards this en
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::666268c88da7466180a0a291811f9313
https://serval.unil.ch/resource/serval:BIB_B48AF13F6F91.P001/REF.pdf
https://serval.unil.ch/resource/serval:BIB_B48AF13F6F91.P001/REF.pdf
Autor:
Ana Victoria Valencia, Ana Lucía Páez, María Elena Sampedro, Clara Ávila, Julio Cesar Cardona, Catalina Mesa, Lina Galvis, Jaime Carrizosa, Mauricio Camargo, Andrés Ruíz, William Cornejo, Gabriel Bedoya
Publikováno v:
Biomédica: revista del Instituto Nacional de Salud, Vol 32, Iss 4, Pp 585-601 (2012)
Introducción. El espectro autista constituye un grupo de trastornos graves del neurodesarrollo, conun fuerte componente genético. Se ha sugerido un papel importante del sistema serotoninérgico en el desarrollo de este grupo de trastornos, con base
Externí odkaz:
https://doaj.org/article/44355c6552c642bb8543cddfc88eab28
Autor:
Ji-eun Yoon, Arjun Krishnan, Marie Vincent, Marco Fichera, Claire Beneteau, Erik A. Sistermans, Nathalie Marle, Luana Mandarà, Sau Wai Cheung, R. Frank Kooy, Teresa Mattina, Rachel L. Kember, Mathilde Nizon, Jill A. Rosenfeld, Alexandre Reymond, Bertrand Isidor, Sophie Blesson, Jean-Hubert Caberg, Cindy Skinner, Emanuela Avola, Charles Perrine, Paolo Prontera, Susan Zeesman, Małgorzata J.M. Nowaczyk, Kate Pope, Lucilla Pizzo, David J. Amor, Boris Keren, Matthew Jensen, Katrin Männik, Patrick Callier, Pawel Stankiewicz, Damian Pazuchanics, Els Voorhoeve, Ornella Galesi, Joris Andrieux, Lucia Castiglia, Anne Laure Mosca-Boidron, Mathilde Lefebvre, Charles E. Schwartz, Santhosh Girirajan, Elizabeth McCready, Anke Van Dijck, Sandra Mercier, Maja Bucan, Corrado Romano, Laurence Faivre, Francesca Mari, Dominique Martin-Coignard, Vijay Kumar, Alessandra Renieri, Andrew Polyak, Emily Huber, Cédric Le Caignec, Aurora Currò, Olivier Pichon
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-018-0266-3⟩
Genetics in Medicine, 21(4), 816-825. Lippincott Williams and Wilkins
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in medicine, vol. 21, no. 4, pp. 816-825
Pizzo, L, Jensen, M, Polyak, A, Rosenfeld, J A, Mannik, K, Krishnan, A, McCready, E, Pichon, O, Le Caignec, C, Van Dijck, A, Pope, K, Voorhoeve, E, Yoon, J, Stankiewicz, P, Cheung, S W, Pazuchanics, D, Huber, E, Kumar, V, Kember, R L, Mari, F, Curró, A, Castiglia, L, Galesi, O, Avola, E, Mattina, T, Fichera, M, Mandarà, L, Vincent, M, Nizon, M, Mercier, S, Bénéteau, C, Blesson, S, Martin-Coignard, D, Mosca-Boidron, A L, Caberg, J H, Bucan, M, Zeesman, S, Nowaczyk, M J M, Lefebvre, M, Faivre, L, Callier, P, Skinner, C, Keren, B, Perrine, C, Prontera, P, Marle, N, Renieri, A, Reymond, A, Kooy, R F, Isidor, B, Schwartz, C, Romano, C, Sistermans, E, Amor, D J, Andrieux, J & Girirajan, S 2019, ' Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants ', Genetics in Medicine, vol. 21, no. 4, pp. 816-825 . https://doi.org/10.1038/s41436-018-0266-3
Genetics in medicine
Genetics in Medicine, Nature Publishing Group, In press, ⟨10.1038/s41436-018-0266-3⟩
Genetics in Medicine, 21(4), 816-825. Lippincott Williams and Wilkins
Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in medicine, vol. 21, no. 4, pp. 816-825
Pizzo, L, Jensen, M, Polyak, A, Rosenfeld, J A, Mannik, K, Krishnan, A, McCready, E, Pichon, O, Le Caignec, C, Van Dijck, A, Pope, K, Voorhoeve, E, Yoon, J, Stankiewicz, P, Cheung, S W, Pazuchanics, D, Huber, E, Kumar, V, Kember, R L, Mari, F, Curró, A, Castiglia, L, Galesi, O, Avola, E, Mattina, T, Fichera, M, Mandarà, L, Vincent, M, Nizon, M, Mercier, S, Bénéteau, C, Blesson, S, Martin-Coignard, D, Mosca-Boidron, A L, Caberg, J H, Bucan, M, Zeesman, S, Nowaczyk, M J M, Lefebvre, M, Faivre, L, Callier, P, Skinner, C, Keren, B, Perrine, C, Prontera, P, Marle, N, Renieri, A, Reymond, A, Kooy, R F, Isidor, B, Schwartz, C, Romano, C, Sistermans, E, Amor, D J, Andrieux, J & Girirajan, S 2019, ' Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants ', Genetics in Medicine, vol. 21, no. 4, pp. 816-825 . https://doi.org/10.1038/s41436-018-0266-3
Genetics in medicine
Purpose: To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive variants. Methods: We analyzed quantitative cl
Autor:
Valerio Bianchi, Marit W. Vermunt, Ilia Sarah Timpanaro, Wouter de Laat, Niels Geijsen, Mirna L. Baak, Geert Geeven, Bas Castelijns, Caroline R.M. Wiggers, Peng Shang, Menno P. Creyghton, Ivanela Kondova
Publikováno v:
Nature Communications, 11(1):301. Nature Publishing Group
Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Nature Communications
Nature Communications, 11(1). Nature Publishing Group
Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Nature Communications
Nature Communications, 11(1). Nature Publishing Group
Speciation is associated with substantial rewiring of the regulatory circuitry underlying the expression of genes. Determining which changes are relevant and underlie the emergence of the human brain or its unique susceptibility to neural disease has
Autor:
Jacques Puechberty, Charlotte Brasch-Andersen, Aurélie Pain, Sonia Richetin, Sébastien Jacquemont, Usha Kini, Anke Van Dijck, Christiane Zweier, Elise Douard, Lilian Bomme Ousager, Aia E. Jønch, Cédric Le Caignec, Anders Bojesen, Bertrand Isidor, Damien Sanlaville, Carolyn Campbell, James Lespinasse, Anne-Bine Skytte, Henrietta Lefroy, Helle Hjalgrim, Marie Ange Delrue, Marzia Passeggeri, Clara Moreau, Emmanuelle Lemyre, Rikke S. Møller, R. Frank Kooy, Jean-Hubert Caberg, David Geneviève
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2019, 56 (10), pp.701-710. ⟨10.1136/jmedgenet-2018-105879⟩
15q11.2 Working Group 2019, ' Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms : recommendations for practice ', Journal of Medical Genetics, vol. 56, no. 10, pp. 701-710 . https://doi.org/10.1136/jmedgenet-2018-105879
Journal of medical genetics
Jønch, A E, Douard, E, Moreau, C, Van Dijck, A, Passeggeri, M, Kooy, F, Puechberty, J, Campbell, C, Sanlaville, D, Lefroy, H, Richetin, S, Pain, A, Geneviève, D, Kini, U, Le Caignec, C, Lespinasse, J, Skytte, A B, Isidor, B, Zweier, C, Caberg, J H, Delrue, M A, Møller, R S, Bojesen, A, Hjalgrim, H, Brasch-Andersen, C, Lemyre, E, Ousager, L B, Jacquemont, S & 15q11.2 Working Group 2019, ' Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms : Recommendations for practice ', Journal of Medical Genetics, vol. 56, no. 10, pp. 701-710 . https://doi.org/10.1136/jmedgenet-2018-105879
Jønch, A E, Douard, E, Moreau, C, Van Dijck, A, Passeggeri, M, Kooy, F, Puechberty, J, Campbell, C, Sanlaville, D, Lefroy, H, Richetin, S, Pain, A, Geneviève, D, Kini, U, Le Caignec, C, Lespinasse, J, Skytte, A B, Isidor, B, Zweier, C, Caberg, J H, Delrue, M A, Møller, R S, Bojesen, A, Hjalgrim, H, Brasch-Andersen, C, Lemyre, E, Ousager, L B & Jacquemont, S 2019, ' Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms : recommendations for practice ', Journal of Medical Genetics, vol. 56, no. 10, pp. 701-710 . https://doi.org/10.1136/jmedgenet-2018-105879
Journal of Medical Genetics, BMJ Publishing Group, 2019, 56 (10), pp.701-710. ⟨10.1136/jmedgenet-2018-105879⟩
15q11.2 Working Group 2019, ' Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms : recommendations for practice ', Journal of Medical Genetics, vol. 56, no. 10, pp. 701-710 . https://doi.org/10.1136/jmedgenet-2018-105879
Journal of medical genetics
Jønch, A E, Douard, E, Moreau, C, Van Dijck, A, Passeggeri, M, Kooy, F, Puechberty, J, Campbell, C, Sanlaville, D, Lefroy, H, Richetin, S, Pain, A, Geneviève, D, Kini, U, Le Caignec, C, Lespinasse, J, Skytte, A B, Isidor, B, Zweier, C, Caberg, J H, Delrue, M A, Møller, R S, Bojesen, A, Hjalgrim, H, Brasch-Andersen, C, Lemyre, E, Ousager, L B, Jacquemont, S & 15q11.2 Working Group 2019, ' Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms : Recommendations for practice ', Journal of Medical Genetics, vol. 56, no. 10, pp. 701-710 . https://doi.org/10.1136/jmedgenet-2018-105879
Jønch, A E, Douard, E, Moreau, C, Van Dijck, A, Passeggeri, M, Kooy, F, Puechberty, J, Campbell, C, Sanlaville, D, Lefroy, H, Richetin, S, Pain, A, Geneviève, D, Kini, U, Le Caignec, C, Lespinasse, J, Skytte, A B, Isidor, B, Zweier, C, Caberg, J H, Delrue, M A, Møller, R S, Bojesen, A, Hjalgrim, H, Brasch-Andersen, C, Lemyre, E, Ousager, L B & Jacquemont, S 2019, ' Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms : recommendations for practice ', Journal of Medical Genetics, vol. 56, no. 10, pp. 701-710 . https://doi.org/10.1136/jmedgenet-2018-105879
BackgroundThe 15q11.2 deletion is frequently identified in the neurodevelopmental clinic. Case–control studies have associated the 15q11.2 deletion with neurodevelopmental disorders, and clinical case series have attempted to delineate a microdelet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af0a6aee40ac27f5060f48411d1d6ef7
https://hal.umontpellier.fr/hal-02563409
https://hal.umontpellier.fr/hal-02563409
Autor:
Michael H. Duyzend, Iñigo Narvaiza, Giorgia Chiatante, Osnat Penn, John Huddleston, Francesca Camponeschi, Francesca Antonacci, Nicolette Janke, Kelsi Penewit, Joshua M. Akey, Giuliana Giannuzzi, Joshua G. Schraiber, W. Joyce Tang, Laura Denman, Peter H. Sudmant, Holly A.F. Stessman, Lana Harshman, Maria C. Marchetto, Evan E. Eichler, Xander Nuttle, Carl Baker, Mario Ventura, Lucia Banci, Chris T. Amemiya, Archana Raja, Alexandre Reymond, Maika Malig, Simone Ciofi-Baffoni, Fred H. Gage, Christopher Benner
Publikováno v:
Nature, vol 536, iss 7615
Nature
Nature, vol. 536, no. 7615, pp. 205-209
Peter Sudmant
Nature
Nature, vol. 536, no. 7615, pp. 205-209
Peter Sudmant
Genetic differences that specify unique aspects of human evolution have typically been identified by comparative analyses between the genomes of humans and closely related primates, including more recently the genomes of archaic hominins. Not all reg
Autor:
D'Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Snyder, L. G., Hippolyte, L., Hanson, E., Maillard, A. M., Faucett, W. A., Mace, A., Pain, A., Bernier, R., Chawner, S. J. R. A., David, A., Andrieux, J., Aylward, E., Baujat, G., Caldeira, I., Conus, P., Ferrari, C., Forzano, F., Gerard, M., Goin-Kochel, R. P., Grant, E., Hunter, J. V., Isidor, B., Jacquette, A., Jonch, A. E., Keren, B., Lacombe, D., Le Caignec, C., Martin, C. L., Mannik, K., Metspalu, A., Mignot, C., Mukherjee, P., Owen, M. J., Passeggeri, M., Rooryck-Thambo, C., Rosenfeld, J. A., Spence, S. J., Steinman, K. J., Tjernagel, J., Van Haelst, M., Shen, Y., Draganski, B., Sherr, E. H., Ledbetter, D. H., van den Bree, M. B. M., Beckmann, J. S., Spiro, J. E., Reymond, A., Jacquemont, S., Chung, W. K., Knoers, N. V. A. M., Martinet, D., Belfiore, M., Cuvellier, J. -C., Devries, B., Delrue, M. -A., Doco-Fenzy, M., Lebel, R., Leheup, B., Lewis, S., Mencarelli, M. A., Minet, J. -C., Vincent-Delorme, C., Moerman, A., Mucciolo, M., Ounap, K., Rajcan-Separovic, E., Renieri, A., Sanlaville, D., Faas, B. H., Koolen, D. A., Vulto-Van Silfhout, A., de Leeuw, N., Rosanfeld, J. A., Filges, I., Achatz, E., Roetzer, K. M., Bonneau, D., Guichet, A., Lazaro, L., Plessis, G., Kroisel, P. M., Reis, A., Jonveaux, P., Chantot-Bastaraud, S., Rauch, A., Demeer, B., Nordgren, A., Labalme, A., Ferrarini, A., Ramelli, G. P., Guilmatre, A., Joly-Helas, G., Haize, S., Layet, V., Le Gallic, S., de Freminville, B., Touraine, R., Van Binsbergen, E., Mathieu-Dramard, M., Barth, M., Blaumeiser, B., Masurel, A., Cailler, P., Olivier-Faivre, L., Malacarne, M., Coutton, C., Dieterich, K., Satre, V., Wallgren-Pettersson, C., Tensgrom, C., Kaksonen, S., Duban-Bedu, B., Holder, M., Rossi, M., Gaillard, D., Bock, D., Bednarek, N., Guillin, O., Bizzarri, V., Flori, E., Silengo, M., Kooy, R. F., Aboura, A., Beri, M., Delobel, B., Drunat, S., Jaros, Z., Kolk, A., Reigo, A., Zufferey, F., Beckmann, N., Faravelli, F., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, A. L., Benedetti, M., Berg, J., Berman, J., Berry, L. N., Bibb, A. L., Blaskey, L., Brennan, J., Brewton, C. M., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, A. G., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Endre, J., Evans, Y. L., Findlay, A., Fischbach, G. D., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, S. E., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, F. I., Jenkins, J., Jeremy, R. J., Johnson, K., Kanne, S. M., Kessler, S., Khan, S. Y., Ku, M., Kuschner, E., Laakman, A. L., Lam, P., Lasala, M. W., Lee, H., La, K., Levy, S., Lian, A., Llorens, A. V., Loftus, K., Luks, T. L., Marco, E. J., Martin, S., Martin, A. J., Marzano, G., Masson, C., Mcgovern, K. E., Keehn, R. M., Miller, D. T., Miller, F. K., Moss, T. J., Murray, R., Nagarajan, S. S., Nowell, K. P., Owen, J., Paal, A. M., Packer, A., Page, P. Z., Paul, B. M., Peters, A., Peterson, D., Poduri, A., Pojman, N. J., Porche, K., Proud, M. B., Qasmieh, S., Ramocki, M. B., Reilly, B., Roberts, T. P. L., Shaw, D., Sinha, T., Smith, B., Snow, A., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A.
Publikováno v:
JAMA psychiatry
Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study 2016, ' Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities ', JAMA Psychiatry, vol. 73, no. 1, pp. 20-30 . https://doi.org/10.1001/jamapsychiatry.2015.2123
JAMA PSYCHIATRY
JAMA psychiatry, 73(1), 20-30. American Medical Association
JAMA Psychiatry, 73, 1, pp. 20-30
JAMA Psychiatry
Jama Psychiatry, vol. 73, no. 1, pp. 20-30
JAMA Psychiatry, 73(1), 20. American Medical Association
JAMA Psychiatry, 73(1), 20-30. American Medical Association
JAMA Psychiatry, 73, 20-30
Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study 2016, ' Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities ', JAMA Psychiatry, vol. 73, no. 1, pp. 20-30 . https://doi.org/10.1001/jamapsychiatry.2015.2123
JAMA PSYCHIATRY
JAMA psychiatry, 73(1), 20-30. American Medical Association
JAMA Psychiatry, 73, 1, pp. 20-30
JAMA Psychiatry
Jama Psychiatry, vol. 73, no. 1, pp. 20-30
JAMA Psychiatry, 73(1), 20. American Medical Association
JAMA Psychiatry, 73(1), 20-30. American Medical Association
JAMA Psychiatry, 73, 20-30
Contains fulltext : 167711.pdf (Publisher’s version ) (Closed access) IMPORTANCE: The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as de