Bibliotecas PUC-SP - Busca Integrada

From pharmacogenetics to pharmaco-omics: Milestones and future directions

od Chiara Auwerx, Marie C. Sadler, Alexandre Reymond, Zoltán Kutalik
Wydane w HGG Advances (2022-04-01)

Emergence of young human genes after a burst of retroposition in primates.

od Ana Claudia Marques, Isabelle Dupanloup, Nicolas Vinckenbosch, Alexandre Reymond, Henrik Kaessmann
Wydane w PLoS Biology (2005-11-01)

Exploiting the mediating role of the metabolome to unravel transcript-to-phenotype associations

od Chiara Auwerx, Marie C Sadler, Tristan Woh, Alexandre Reymond, Zoltán Kutalik, Eleonora Porcu
Wydane w eLife (2023-03-01)

De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome

od Laura Pranckėnienė, Evelina Siavrienė, Lucie Gueneau, Eglė Preikšaitienė, Violeta Mikštienė, Alexandre Reymond, Vaidutis Kučinskas
Wydane w Molecular Genetics & Genomic Medicine (2019-12-01)

A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy

od Nazia Ibrahim, Shagufta Naz, Francesca Mattioli, Nicolas Guex, Saima Sharif, Afia Iqbal, Muhammad Ansar, Alexandre Reymond
Wydane w Genes (2023-03-01)

Using transcription modules to identify expression clusters perturbed in Williams-Beuren syndrome.

od Charlotte N Henrichsen, Gábor Csárdi, Marie-Thérèse Zabot, Carmela Fusco, Sven Bergmann, Giuseppe Merla, Alexandre Reymond
Wydane w PLoS Computational Biology (2011-01-01)

Structural variation-associated expression changes are paralleled by chromatin architecture modifications.

od Nele Gheldof, Robert M Witwicki, Eugenia Migliavacca, Marion Leleu, Gérard Didelot, Louise Harewood, Jacques Rougemont, Alexandre Reymond
Wydane w PLoS ONE (2013-01-01)

Mendelian randomization integrating GWAS and eQTL data reveals genetic determinants of complex and clinical traits

od Eleonora Porcu, Sina Rüeger, Kaido Lepik, eQTLGen Consortium, BIOS Consortium, Federico A. Santoni, Alexandre Reymond, Zoltán Kutalik
Wydane w Nature Communications (2019-07-01)

A fish-specific transposable element shapes the repertoire of p53 target genes in zebrafish.

od Lucia Micale, Maria Nicla Loviglio, Marta Manzoni, Carmela Fusco, Bartolomeo Augello, Eugenia Migliavacca, Grazia Cotugno, Eugenio Monti, Giuseppe Borsani, Alexandre Reymond, Giuseppe Merla
Wydane w PLoS ONE (2012-01-01)

Rare copy-number variants as modulators of common disease susceptibility

od Chiara Auwerx, Maarja Jõeloo, Marie C. Sadler, Nicolò Tesio, Sven Ojavee, Charlie J. Clark, Reedik Mägi, Estonian Biobank Research Team, Alexandre Reymond, Zoltán Kutalik
Wydane w Genome Medicine (2024-01-01)

Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models.

od Guénola Ricard, Jessica Molina, Jacqueline Chrast, Wenli Gu, Nele Gheldof, Sylvain Pradervand, Frédéric Schütz, Juan I Young, James R Lupski, Alexandre Reymond, Katherina Walz
Wydane w PLoS Biology (2010-11-01)

Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder

od 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
Wydane w npj Genomic Medicine (2021-11-01)

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations.

od Luisa Bonafé, Emmanouil T Dermitzakis, Sheila Unger, Cheryl R Greenberg, Belinda A Campos-Xavier, Andreas Zankl, Catherine Ucla, Stylianos E Antonarakis, Andrea Superti-Furga, Alexandre Reymond
Wydane w PLoS Genetics (2005-10-01)

Limited evidence for blood eQTLs in human sexual dimorphism

od 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
Wydane w Genome Medicine (2022-08-01)

Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes.

od Thomas Arbogast, Abdel-Mouttalib Ouagazzal, Claire Chevalier, Maksym Kopanitsa, Nurudeen Afinowi, Eugenia Migliavacca, Belinda S Cowling, Marie-Christine Birling, Marie-France Champy, Alexandre Reymond, Yann Herault
Wydane w PLoS Genetics (2016-02-01)

Premature ovarian insufficiency is associated with global alterations in the regulatory landscape and gene expression in balanced X-autosome translocations

od 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
Wydane w Epigenetics & Chromatin (2023-05-01)

The E3-ubiquitin ligase TRIM50 interacts with HDAC6 and p62, and promotes the sequestration and clearance of ubiquitinated proteins into the aggresome.

od Carmela Fusco, Lucia Micale, Mikhail Egorov, Maria Monti, Ester Valentina D'Addetta, Bartolomeo Augello, Flora Cozzolino, Alessia Calcagnì, Andrea Fontana, Roman S Polishchuk, Gerard Didelot, Alexandre Reymond, Piero Pucci, Giuseppe Merla
Wydane w PLoS ONE (2012-01-01)

Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein

od 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
Wydane w Genome Biology (2023-11-01)

Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis

od Stephan C. Collins, Anna Mikhaleva, Katarina Vrcelj, Valerie E. Vancollie, Christel Wagner, Nestor Demeure, Helen Whitley, Meghna Kannan, Rebecca Balz, Lauren F. E. Anthony, Andrew Edwards, Hervé Moine, Jacqueline K. White, David J. Adams, Alexandre Reymond, Christopher J. Lelliott, Caleb Webber, Binnaz Yalcin
Wydane w Nature Communications (2019-08-01)

Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts

od Giuliana Giannuzzi, Nicolas Chatron, Katrin Mannik, Chiara Auwerx, Sylvain Pradervand, Gilles Willemin, Kendra Hoekzema, Xander Nuttle, Jacqueline Chrast, Marie C. Sadler, Eleonora Porcu, 16p11.2 Consortium, Yann Herault, Bertrand Isidor, Brigitte Gilbert-Dussardier, Evan E. Eichler, Zoltan Kutalik, Alexandre Reymond
Wydane w npj Genomic Medicine (2023-05-01)