Rajae El Malti, Hui Liu, Bérénice Doray, Christel Thauvin, Alice Maltret, Claire Dauphin, Miguel Gonçalves-Rocha, Michel Teboul, Patricia Blanchet, J. Roume, Céline Gronier, Corinne Ducreux, Magali Veyrier, François Marçon, Philippe Acar, Jean‐René Lusson, Marilyne Lévy, Constance Beyler, Jacqueline Vigneron, Marie-Pierre Cordier-Alex, Florian Heitz, Damien Sanlaville, Damien Bonnet, Patrice Bouvagnet,
The etiology of congenital heart defect (CHD) combines environmental and genetic factors. So far, there were studies reporting on the screening of a single gene on unselected CHD or on familial cases selected for specific CHD types. Our goal was to systematically screen a proband of familial cases of CHD on a set of genetic tests to evaluate the prevalence of disease-causing variant identification. A systematic screening of GATA4, NKX2-5, ZIC3 and Multiplex ligation-dependent probe amplification ( ...
Tópico(s): Tracheal and airway disorders
2015 - Springer Nature | European Journal of Human Genetics
Florian Villegas, Daphné Lehalle, Daniela Mayer, Melanie Rittirsch, Michael Stadler, Marietta Zinner, Daniel Olivieri, P. Vabres, Laurence Duplomb, Eveline S.J.M. de Bont, Yannis Duffourd, Floor A.M. Duijkers, Magali Avila, David Geneviève, Nada Houcinat, Thibaud Jouan, Paul Kuentz, Klaske D. Lichtenbelt, Christel Thauvin‐Robinet, Judith St‐Onge, Julien Thévenon, Koen L.I. van Gassen, Mieke M. van Haelst, Silvana van Koningsbruggen, Daniel Heß, Sébastien A. Smallwood, Jean‐Baptiste Rivière, Laurence Faivre, Joerg Betschinger,
Self-renewal and differentiation of pluripotent murine embryonic stem cells (ESCs) is regulated by extrinsic signaling pathways. It is less clear whether cellular metabolism instructs developmental progression. In an unbiased genome-wide CRISPR/Cas9 screen, we identified components of a conserved amino-acid-sensing pathway as critical drivers of ESC differentiation. Functional analysis revealed that lysosome activity, the Ragulator protein complex, and the tumor-suppressor protein Folliculin enable ...
Tópico(s): Cellular transport and secretion
2018 - Elsevier BV | Cell stem cell
Michael A. Levy, Haley McConkey, Jennifer Kerkhof, Mouna Barat‐Houari, Sara Bargiacchi, Elisa Biamino, María Palomares‐Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Robin S. Fletcher, Florian Cherik, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin Hilton, Zandra A. Jenkins, Simranpreet Kaur, M. E. Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela Morgan, Renske Oegema, Elsebet Østergaard, Nathalie Pallarès, Maria Piccione, Simone Pizzi, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Raissa Relator, Rocío Rius, Stephen P. Robertson, Kathleen Rooney, Justine Rousseau, Gijs W.E. Santen, Fernando Santos‐Simarro, Josephine Schijns, Gabriella Maria Squeo, Miya St John, Christel Thauvin‐Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Schrier Vergano, Niels Vos, Kellie K. Walden, Dimitar N. Azmanov, Tuğçe B. Balcı, Siddharth Banka, Jozef Gécz, Peter Henneman, Jennifer A. Lee, Marcel M.A.M. Mannens, Tony Roscioli, Victoria Mok Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym M. Boycott, Nicola Brunetti‐Pierri, Philippe M. Campeau, John Christodoulou, David A. Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Geneviève, Kristin D. Kerrnohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl R. Greenberg, Charles E. Schwartz, Steven A. Skinner, Roger E. Stevenson, Antonio Vitobello, Marco Tartaglia, Mariëlle Alders, Matthew L. Tedder, Bekim Sadiković,
Overlapping clinical phenotypes and an expanding breadth and complexity of genomic associations are a growing challenge in the diagnosis and clinical management of Mendelian disorders. The functional consequences and clinical impacts of genomic variation may involve unique, disorder-specific, genomic DNA methylation episignatures. In this study, we describe 19 novel episignature disorders and compare the findings alongside 38 previously established episignatures for a total of 57 episignatures associated ...
Tópico(s): Genetic Syndromes and Imprinting
2021 - Elsevier BV | Human Genetics and Genomics Advances
Michael A. Levy, Raissa Relator, Haley McConkey, Erinija Pranckevičienė, Jennifer Kerkhof, Mouna Barat‐Houari, Sara Bargiacchi, Elisa Biamino, María Palomares‐Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Marco Ferilli, Robin S. Fletcher, Florian Cherick, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin Hilton, Zandra A. Jenkins, Simranpreet Kaur, M. E. Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela Morgan, Renske Oegema, Elsebet Østergaard, Nathalie Pallarès, Maria Piccione, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Rocío Rius, Stephen P. Robertson, Kathleen Rooney, Justine Rousseau, Gijs W.E. Santen, Fernando Santos‐Simarro, Josephine Schijns, Gabriella Maria Squeo, Miya St John, Christel Thauvin‐Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Schrier Vergano, Niels Vos, Kellie K. Walden, Dimitar N. Azmanov, Tuğçe B. Balcı, Siddharth Banka, Jozef Gécz, Peter Henneman, Jennifer A. Lee, Marcel M.A.M. Mannens, Tony Roscioli, Victoria Mok Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym M. Boycott, Nicola Brunetti‐Pierri, Philippe M. Campeau, Dominique Campion, John Christodoulou, David A. Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Geneviève, Delphine Héron, Thomas Husson, Kristin D. Kernohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl R. Greenberg, Charles E. Schwartz, Steven A. Skinner, Roger E. Stevenson, Marie Vincent, Antonio Vitobello, Marco Tartaglia, Mariëlle Alders, Matthew L. Tedder, Bekim Sadiković,
An expanding range of genetic syndromes are characterized by genome-wide disruptions in DNA methylation profiles referred to as episignatures. Episignatures are distinct, highly sensitive, and specific biomarkers that have recently been applied in clinical diagnosis of genetic syndromes. Episignatures are contained within the broader disorder-specific genome-wide DNA methylation changes, which can share significant overlap among different conditions. In this study, we performed functional genomic ...
Tópico(s): Genetic Syndromes and Imprinting
2022 - Wiley | Human Mutation
Gaël Nicolas, Aline Zaréa, Morgane Lacour, Olivier Quenez, Stéphane Rousseau, Anne‐Claire Richard, Antoine Bonnevalle, Catherine Schramm, Robert Olaso, Florian Sandron, Anne Boland, Jean‐François Deleuze, Daniela Andriuta, Pierre Anthony, Sophie Auriacombe, Anna‐Chloé Balageas, Guillaume Ballan, Mélanie Barbay, Yannick Béjot, Serge Belliard, Marie Bénaiteau, Karim Bennys, Stéphanie Bombois, Claire Boutoleau‐Bretonnière, Pierre Branger, Jasmine Carlier, Leslie Cartz‐Piver, Pascaline Cassagnaud, Mathieu-Pierre Ceccaldi, Valérie Chauviré, Yaohua Chen, Julien Cogez, Emmanuel Cognat, Fabienne Contégal-Callier, Léa Corneille, Philippe Couratier, Benjamin Cretin, C. Crinquette, Benjamin Dauriat, Sophie Dautricourt, Vincent de La Sayette, Astrid De Liège, Didier Deffond, Florence Démurger, Vincent Deramecourt, Céline Derollez, Elsa Dionet, Martine Doco Fenzy, Julien Dumurgier, Anaïs Dutray, Frédérique Etcharry‐Bouyx, Maïté Formaglio, Audrey Gabelle, Anne Gainche-Salmon, Olivier Godefroy, Mathilde Graber, Chloé Gregoire, Stéphan Grimaldi, Julien Guéniat, Claude Guériot, Virginie Guillet‐Pichon, Sophie Haffen, Cezara-Roxana Hanta, Clémence Hardy, Geoffroy Hautecloque, Camille Heitz, Claire Hourrègue, Thérèse Jonveaux, Snejana Jurici, Lejla Koric, Pierre Krolak‐Salmon, Julien Lagarde, Hélène-Marie Lanoiselée, Brice Laurens, Isabelle Le Ber, Gwenaël Le Guyader, Amélie Leblanc, Thibaud Lebouvier, Richard A. Levy, Anaïs Lippi, Marie‐Anne Mackowiak, Éloi Magnin, Cécilia Marelli, Olivier Martinaud, Aurélien Maureille, Raffaella Migliaccio, Emilie Milongo-Rigal, Sophie Mohr, Hélène Mollion, Alexandre Morin, Julia Nivelle, Camille Noiray, Pauline Olivieri, Claire Paquet, Jérémie Pariente, Florence Pasquier, Alexandre Perron, Nathalie Philippi, Vincent Planche, Hélène Pouclet‐Courtemanche, Marie Rafiq, Adeline Rollin‐Sillaire, Carole Roué-Jagot, Dario Saracino, Marie Sarazin, Mathilde Sauvée, François Sellal, Marc Teichmann, Christel Thauvin, Quentin Thomas, Camille Tisserand, Cédric Turpinat, Laurène Van Damme, Olivier Vercruysse, Nicolas Villain, Nathalie Wagemann, Camille Charbonnier, David Wallon,
To assess the likely pathogenic/pathogenic (LP/P) variants rates in Mendelian dementia genes and the moderate-to-strong risk factors rates in patients with Alzheimer disease (AD). We included 700 patients in a prospective study and performed exome sequencing. A panel of 28 Mendelian and 6 risk-factor genes was interpreted and returned to patients. We built a framework for risk variant interpretation and risk gradation and assessed the detection rates among early-onset AD (EOAD, age of onset (AOO) ≤65 ...
Tópico(s): Genomics and Rare Diseases
2024 - Elsevier BV | Genetics in Medicine
Nicola L. Barclay, Edward Burn, Antonella Delmestri, Talita Duarte‐Salles, Asieh Golozar, Wai Yi Man, Eng Hooi Tan, Ilona Tietzova, James N’Dow, Wim P.J. Witjes, Emma Jane Smith, Carla Bezuidenhout, Sarah Collen, Karin Plass, Torsten Blum, Angelika Borkowetz, Peter-Paul Willemse, Philip Cornford, Saeed Dabestani, Maurice Schlief, Juan Gómez Rivas, Anders Bjartell, M. Roobol, Katharina Beyer, Lionne D. F. Venderbos, Sebastiaan Remmers, Daan Nieboer, Raoul Boomsma, Bertrand De Meulder, Charles Auffray, Nesrine Taibi, Ayman Hijazy, Albert Saporta, Johann Pellet, Imran Omar, Lesley Anderson, Steven MacLennan, Sara MacLennan, Valerie Speirs, Solveiga Zibaite, Moragh Boyle, Charlotte Murray, Dianne Brown, Demi McDonald, Andres Metspalu, Jaak Vilo, Raivo Kolde, Sulev Reisberg, Elena Sügis, Marek Oja, Telver Objärtel, Alberto Briganti, Giorgio Gandaglia, Martina Faticoni, Greta Matteuzzi, Claude Chelala, Louise Jones, Maryam Abdollahyan, Emanuela Gadaleta, Guido Juckeland, Michael Bußmann, Daniel Kotik, Artur Yakimovich, Torsten Bauer, Jens Kollmeier, Jessica Werchan, Torsten Blum, Rebecca Graebig-Rancourt, Tobias Sjöblom, Chatarina Larsson, Arvid Widenlou Nordmark, Daniel Prieto‐Alhambra, Sara Khalid, Edward Burn, Antonella Delmestri, Mahkameh Mafi, Danielle Newby, Cheryl Tan, Nikolaus Forgó, Antoni Napieralski, Martina Wimmer, Katharina Haimbuchner, Saskia Kaltenbrunner, K. Hartl, Kseniia Guliaeva, Giuseppe Curigliano, Carmen Criscitiello, Stefania Morganti, Chiara Corti, Elena Dal Zotto, Nadia Harbeck, Julian Koch, Neal Navani, Sam M. Janes, Amyn Bhamani, Stéphane Lejeune, Mario Campone, Jean‐Sébastien Frenel, Kevin Joubel, François Bocquet, Camille Berneur, Marion Laloue, Malvina Dutot, Ludovic Jacob, Delphine Macle, Stéphanie Thauvin, Fanny Seguin, Catherine Le Manach, Philippe Lambin, Anshu Ankolekar, Talita Duarte‐Salles, Laura Pérez, Valérie Vaccaro, Thomy Tonia, Céline Genton, Wouter H. van Geffen, Ilona Tietzova, Armin Frille, Vincent Fallet, Adrien Costantini, Simone Wesselmann, Christoph Kowalski, Nora Tabea Sibert, Ellen Griesshammer, Pippa Powell, Clare Williams, Sigrid van Dorp, Nadia Honing, Javier Téllez, Sandra Garrido, Roberto Galán, Ruben Villoria, Inmaculada Perea Fernández, Paloma López de Arenosa Barbeito, Enric Bousoño Borrull, Laura Tur Giménez, S Valdés Hernández, Pablo González Fuente, Juan Miguel Auñón García, José Carlos Barrios González, Alvaro Morandeira Galban, Andreas Kremer, Maria Quaranta, Sebastiano La Ferla, Loic Marc, Nils Christian, Christian Bauer, Mariana Pina, Sigrid Auweter, Julia Reichwald, Corinna Zur Bonsen-Thomas, Larissa Tschetsch, Francisco Pinto, Samuel Lesuffleur, Matthieu Blottière, Louise Duflot, David Vallas, Pierre-Olivier Chaudé, Marie Baumier, Daniele Cremonini, Patrizia Torremante, Florian Fromm, Verena von Scharfenberg, Karin Rosenits, Nuno Pereira‐Azevedo, Marcel Hartig, Waltraud Kantz, F. Kube, Amanda Matthews, Bhakti Arondekar, Bruno Gori, H. Krüger, Julia Ilinares, Keith D. Wilner, Lucile Serfass, Lynn McRoy, Robert S. Miller, Simon Bauer, Sofia Simon, Georgios Papanastasiou, Karen Godbold, Edwina Cahill, Stefan Langhammer, Anne Adams, Sebastian Boie, Florian Reis, Susan Evans‐Axelsson, John-Edward Butler-Ransohoff, Imke Meyer, Selmin Ulusu Saatci, Samu Kurki, Helene Ostojic, Abdelali Majdi, S. Villalba, Sai Jasti, Adrian Wolny, Lisa Schneider, Adrian Rousset, Ivo Cleuren, Sandra Eketorp Sylvan, Ellie Paintin, Monika Pokrzepa, Nicolas Pourbaix, Carolin Lorber, Marlène Thomas, Stefanie Morris, Joao Mouta, Martina von Meyenn, Mahesh Shivhare, Thomas Metcalfe, Camille André, Tobias Schulte in den Baeumen, Jason Hannon, Alan M. Hochberg, K K Sukumaran, Jie Shen, Nareen Katta, Yilin Xu, Sean Turner, John R. Ossyra, David Dellamonica, Heather Moses, Yiduo Zhang, Christophe Dufour, Marcus Simon, Maria Teresa Campos, Hassan Naqvi, Jens Ceder, О. Г. Алексеева, Burkhard Mueller, Tobias Flosdorf, Ruben Koch, Anastasia Goette, Gustaf Hedström, Per-Henrik Edqvist, Daniel Prieto‐Alhambra, Danielle Newby,
Breast cancer is the most frequently diagnosed cancer in females globally. However, we know relatively little about trends in males. This study describes United Kingdom (UK) secular trends in breast cancer from 2000 to 2021 for both sexes. We describe a population-based cohort study using UK primary care Clinical Practice Research Datalink (CPRD) GOLD and Aurum databases. There were 5,848,436 eligible females and 5,539,681 males aged 18+ years, with ≥ one year of prior data availability in the study ...
Tópico(s): Global Cancer Incidence and Screening
2024 - Nature Portfolio | Scientific Reports