Zobrazeno 1 - 10
of 214
pro vyhledávání: '"Alexandre, Reymond"'
Autor:
Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka E. L. M. Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M. Butler, Michael J. Lyons, Claudia M. B. Carvalho, Chaofan Zhang, James R. Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane McCormick, Mary Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Operto, Federico Zara, Karin Writzl, Aleš Maver, Maria K. Haanpää, Pia Pohjola, Harri Arikka, Anneke J. A. Kievit, Camilla Calandrini, Christian Iseli, Nicolas Guex, Alexandre Reymond
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-18 (2024)
Abstract Background We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney, caused by de novo variants in the degron of AFF3. Mouse knock-in
Externí odkaz:
https://doaj.org/article/0358fc56f6054b188a138c71c996e968
Autor:
Chiara Auwerx, Maarja Jõeloo, Marie C. Sadler, Nicolò Tesio, Sven Ojavee, Charlie J. Clark, Reedik Mägi, Estonian Biobank Research Team, Alexandre Reymond, Zoltán Kutalik
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-24 (2024)
Abstract Background Copy-number variations (CNVs) have been associated with rare and debilitating genomic disorders (GDs) but their impact on health later in life in the general population remains poorly described. Methods Assessing four modes of CNV
Externí odkaz:
https://doaj.org/article/99204a983c254d6594fd32cb0289dd83
Autor:
Perrine F. Kretz, Christel Wagner, Anna Mikhaleva, Charlotte Montillot, Sylvain Hugel, Ilaria Morella, Meghna Kannan, Marie-Christine Fischer, Maxence Milhau, Ipek Yalcin, Riccardo Brambilla, Mohammed Selloum, Yann Herault, Alexandre Reymond, Stephan C. Collins, Binnaz Yalcin
Publikováno v:
Genome Biology, Vol 24, Iss 1, Pp 1-22 (2023)
Abstract Background Using mouse genetic studies and systematic assessments of brain neuroanatomical phenotypes, we set out to identify which of the 30 genes causes brain defects at the autism-associated 16p11.2 locus. Results We show that multiple ge
Externí odkaz:
https://doaj.org/article/37637093eaea40888cb9b6562d451f96
Autor:
Adriana Di-Battista, Bianca Pereira Favilla, Malú Zamariolli, Natália Nunes, Alexandre Defelicibus, Lucia Armelin-Correa, Israel Tojal da Silva, Alexandre Reymond, Mariana Moyses-Oliveira, Maria Isabel Melaragno
Publikováno v:
Epigenetics & Chromatin, Vol 16, Iss 1, Pp 1-10 (2023)
Abstract Background Patients with balanced X-autosome translocations and premature ovarian insufficiency (POI) constitute an interesting paradigm to study the effect of chromosome repositioning. Their breakpoints are clustered within cytobands Xq13
Externí odkaz:
https://doaj.org/article/f60974011ecd4b0b988c1713c02a5366
Autor:
Victor Shamanskiy, Alina A. Mikhailova, Evgenii O. Tretiakov, Kristina Ushakova, Alina G. Mikhailova, Sergei Oreshkov, Dmitry A. Knorre, Natalia Ree, Jonathan B. Overdevest, Samuel W. Lukowski, Irina Gostimskaya, Valerian Yurov, Chia-Wei Liou, Tsu-Kung Lin, Wolfram S. Kunz, Alexandre Reymond, Ilya Mazunin, Georgii A. Bazykin, Jacques Fellay, Masashi Tanaka, Konstantin Khrapko, Konstantin Gunbin, Konstantin Popadin
Publikováno v:
BMC Biology, Vol 21, Iss 1, Pp 1-13 (2023)
Abstract Background Aging in postmitotic tissues is associated with clonal expansion of somatic mitochondrial deletions, the origin of which is not well understood. Such deletions are often flanked by direct nucleotide repeats, but this alone does no
Externí odkaz:
https://doaj.org/article/4165b20a8937424aafa2ba2a950a3360
Autor:
Eleonora Porcu, Annique Claringbould, Antoine Weihs, Kaido Lepik, BIOS Consortium, Tom G. Richardson, Uwe Völker, Federico A. Santoni, Alexander Teumer, Lude Franke, Alexandre Reymond, Zoltán Kutalik
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-13 (2022)
Abstract Background The genetic underpinning of sexual dimorphism is very poorly understood. The prevalence of many diseases differs between men and women, which could be in part caused by sex-specific genetic effects. Nevertheless, only a few publis
Externí odkaz:
https://doaj.org/article/a3f5c3b678794a75addbb623225d2106
Autor:
Giuliana Giannuzzi, Nicolas Chatron, Katrin Mannik, Chiara Auwerx, Sylvain Pradervand, Gilles Willemin, Kendra Hoekzema, Xander Nuttle, Jacqueline Chrast, Marie C. Sadler, Eleonora Porcu, p11.2 Consortium, Yann Herault, Bertrand Isidor, Brigitte Gilbert-Dussardier, Evan E. Eichler, Zoltan Kutalik, Alexandre Reymond
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-10 (2022)
Abstract Recurrent copy-number variations (CNVs) at chromosome 16p11.2 are associated with neurodevelopmental diseases, skeletal system abnormalities, anemia, and genitourinary defects. Among the 40 protein-coding genes encompassed within the rearran
Externí odkaz:
https://doaj.org/article/46886538723645c79e39a958f7052132
Autor:
Chiara Auwerx, Marie C Sadler, Tristan Woh, Alexandre Reymond, Zoltán Kutalik, Eleonora Porcu
Publikováno v:
eLife, Vol 12 (2023)
Despite the success of genome-wide association studies (GWASs) in identifying genetic variants associated with complex traits, understanding the mechanisms behind these statistical associations remains challenging. Several methods that integrate meth
Externí odkaz:
https://doaj.org/article/e62e238f342d4c918033300bce3ce0af
Autor:
Francesca Mattioli, Hossein Darvish, Sohail Aziz Paracha, Abbas Tafakhori, Saghar Ghasemi Firouzabadi, Marjan Chapi, Hafiz Muhammad Azhar Baig, Alexandre Reymond, Stylianos E. Antonarakis, Muhammad Ansar
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-5 (2021)
Abstract Intellectual disability (ID) is a highly heterogeneous disorder with hundreds of associated genes. Despite progress in the identification of the genetic causes of ID following the introduction of high-throughput sequencing, about half of aff
Externí odkaz:
https://doaj.org/article/400519f225054fa7a452b59040f859dd
Autor:
Eleonora Porcu, Marie C. Sadler, Kaido Lepik, Chiara Auwerx, Andrew R. Wood, Antoine Weihs, Maroun S. Bou Sleiman, Diogo M. Ribeiro, Stefania Bandinelli, Toshiko Tanaka, Matthias Nauck, Uwe Völker, Olivier Delaneau, Andres Metspalu, Alexander Teumer, Timothy Frayling, Federico A. Santoni, Alexandre Reymond, Zoltán Kutalik
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-9 (2021)
Identification of gene expression changes between healthy and diseased individuals can reveal mechanistic insights and biomarkers. Here, the authors propose a bi-directional transcriptome-wide Mendelian Randomization approach to assess causal effects
Externí odkaz:
https://doaj.org/article/b6ea07fec9aa4a9aa84d8abbe352d3b1