Gaël Nicolas (Gael Nicolas)

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 49

Top Venues

Nature communications

European journal of human genetics : EJHG

Neurology

Human mutation

Centre Hospitalier Universitaire de Rouen

University of Rouen (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Centre Hospitalier Universitaire de Rouen Nov 01 2014 - Oct 31 2016

France

Assistant Hospitalo-Universitaire :: Department of Genetics

Université de Rouen Faculté de Médecine et Pharmacie Nov 01 2014 - Oct 31 2016

France

Assistant Hospitalo-Universitaire :: Inserm U1079

Centre Hospitalier Universitaire de Rouen Nov 01 2013 - Oct 31 2014

France

Assistant spécialiste régional de recherche :: Department of Genetics

Université de Rouen Faculté de Médecine et Pharmacie Nov 01 2013 - Oct 31 2014

France

Assistant Spécialiste Régional de Recherche :: Inserm U1079

Education History

University of Rouen

France

PHD

Publications

Anne Rovelet-Lecrux, Antoine Bonnevalle, Olivier Quenez, Wandrille Delcroix, Kévin Cassinari, Anne-Claire Richard, Anne Boland-Auge, Jean François Deleuze, Cyril Goizet, Alice Rucar, Christophe Verny, Karine Nguyen, Magalie Lecourtois, Gaël Nicolas
Upstream open reading frame-introducing variants in patients with primary familial brain calcification. European journal of human genetics : EJHG 32 (7) (2024)
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa Da'as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
Anne Rovelet-Lecrux, Antoine Bonnevalle, Olivier Quenez, Wandrille Delcroix, Kévin Cassinari, Anne-Claire Richard, Anne Boland-Auge, Jean François Deleuze, Cyril Goizet, Alice Rucar, Christophe Verny, Karine Nguyen, Magalie Lecourtois, Gaël Nicolas
Upstream open reading frame-introducing variants in patients with primary familial brain calcification. European journal of human genetics : EJHG (2024)
Anne Rovelet-Lecrux, Antoine Bonnevalle, Olivier Quenez, Wandrille Delcroix, Kévin Cassinari, Anne-Claire Richard, Anne Boland-Auge, Jean François Deleuze, Cyril Goizet, Alice Rucar, Christophe Verny, Karine Nguyen, Magalie Lecourtois, Gaël Nicolas
Upstream open reading frame-introducing variants in patients with primary familial brain calcification. European journal of human genetics : EJHG (2024)
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa Da'as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
Andrea Timmi, Alexandre Morin, Olivier Guillin, Gaël Nicolas
One Train May Hide Another: Two Cases of Co-Occurring Primary Familial Brain Calcification and Alzheimer's Disease. Journal of molecular neuroscience : MN 74 (1) (2024)
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa Da'as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa Da'as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa Da'as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa Da'as, Khalid A Fakhro, Alicia Gómez-Pascual, Juan A Botía, Nicholas W Wood, Rita Horvath, Andreas M Ernst, James E Rothman, Meriel McEntagart, Yanick J Crow, Fowzan Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
Andrea Timmi, Alexandre Morin, Olivier Guillin, Gaël Nicolas
One Train May Hide Another: Two Cases of Co-Occurring Primary Familial Brain Calcification and Alzheimer's Disease. Journal of molecular neuroscience : MN 74 (1) (2024)
Anne Rovelet-Lecrux, Antoine Bonnevalle, Olivier Quenez, Wandrille Delcroix, Kévin Cassinari, Anne-Claire Richard, Anne Boland-Auge, Jean François Deleuze, Cyril Goizet, Alice Rucar, Christophe Verny, Karine Nguyen, Magalie Lecourtois, Gaël Nicolas
Upstream open reading frame-introducing variants in patients with primary familial brain calcification. European journal of human genetics : EJHG 32 (7) (2024)
Anne Rovelet-Lecrux, Antoine Bonnevalle, Olivier Quenez, Wandrille Delcroix, Kévin Cassinari, Anne-Claire Richard, Anne Boland-Auge, Jean François Deleuze, Cyril Goizet, Alice Rucar, Christophe Verny, Karine Nguyen, Magalie Lecourtois, Gaël Nicolas
Upstream open reading frame-introducing variants in patients with primary familial brain calcification. European journal of human genetics : EJHG 32 (7) (2024)
Andrea Timmi, Alexandre Morin, Olivier Guillin, Gaël Nicolas
One Train May Hide Another: Two Cases of Co-Occurring Primary Familial Brain Calcification and Alzheimer's Disease. Journal of molecular neuroscience : MN 74 (1) (2024)
Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, Tiziana Pisano, Laloe Monteiro, Noémie Penaud, Christian M Korff, Joël Fluss, Carla Marini, Elisabetta Cesaroni, Blanca Mercedes Alvarez, Damien Sanlaville, Nicolas Chatron, Alexis A Arzimanoglou, Audrey Labalme, Vishnu Anand Cuddapah, Sarah M Ruggiero, Francois Lecoquierre, Gaël Nicolas, Guerrot Anne Marie, Axel Lebas, Herve O Testard, Katherine L Helbig, Anna Ruiz, Adeline Ngoh, Manju A Kurian, Kimberley Reid, Robert V V Spaull, Pascal Joset, Georgia Ramantani, Katharina Steindl, Martin Krenn, Lucia Gerstl, Silvia Vieker, Dana Craiu, Manuela Pendziwiat, Chad Haldeman-Englert, Ilya V Kanivets, Irina Romanova, Deepa S Rajan, Jill Anne Rosenfeld, Margaret Au, Katheryn Lynn Grand, John M Graham, Arnaud Isapof, Nathalie Villeneuve, Thomas Smol, Roseline Caumes, Pia Zacher, Sonja Neuser, Sigrid Tinschert, Konrad Platzer, Bartolomaeus Tobias, Ines Mohnke, Maximilian Radtke, Rami Abou Jamra, Ingo Helbig, Floortje E Jansen, Klaas Koop, Gabrielle Rudolf, Sébastien Küry, Julien Courchet, Renzo Guerrini, Gaëtan Lesca
Molecular and Phenotypic Characterization of the RORB -Related Disorder. Neurology 102 (2) (2023)
Itziar De Rojas, Sonia Moreno-Grau, Niccolo Tesi, Benjamin Grenier-Boley, Victor Andrade, Iris E Jansen, Nancy L Pedersen, Najada Stringa, Anna Zettergren, Isabel Hernández, Laura Montrreal, Carmen Antúnez, Anna Antonell, Rick M Tankard, Joshua C Bis, Rebecca Sims, Celine Bellenguez, Inés Quintela, Antonio González-Perez, Miguel Calero Lara, Emilio Franco-Macías, Juan Macías, Rafael Blesa, Laura Cervera-Carles, Menéndez-González Manuel, Ana Frank-García, Jose Luís Royo, Fermin Moreno, Raquel Huerto Vilas, Miquel Baquero, Mónica Diez-Fairen, Carmen Lage, Sebastián García-Madrona, Pablo García González, Emilio Alarcón-Martín, Sergi Valero, Oscar Sotolongo-Grau, Abbe Ullgren, Adam C Naj, Afina W Lemstra, Alba Benaque, Alba Pérez-Cordón, Alberto Benussi, Alberto Rábano, Alessandro Padovani, Alessio Squassina, Alexandre de Mendonça, Alfonso Arias Pastor, Almar A L Kok, Alun Meggy, Ana Belén Pastor, Ana Espinosa, Anaïs Corma-Gómez, Angel Martín Montes, Ángela Sanabria, Anita L DeStefano, Anja Schneider, Annakaisa Haapasalo, Anne Kinhult Ståhlbom, Anne Tybjærg-Hansen, Annette M Hartmann, Annika Spottke, Arturo Corbatón-Anchuelo, Arvid Rongve, Barbara Borroni, Beatrice Arosio, Benedetta Nacmias, Børge Grønne Nordestgaard, Brian W Kunkle, Camille Charbonnier, Carla Abdelnour, Carlo Masullo, Carmen Martínez Rodríguez, Carmen Muñoz-Fernandez, Carole Dufouil, Caroline Graff, Catarina B Ferreira, Caterina Chillotti, Chandra A Reynolds, Chiara Fenoglio, Christine Van Broeckhoven, Christopher Clark, Claudia Pisanu, Claudia L Satizabal, Clive Holmes, Dolores Buiza-Rueda, Dag Aarsland, Dan Rujescu, Daniel Alcolea, Daniela Galimberti, David Wallon, Davide Seripa, Edna Grünblatt, Efthimios Dardiotis, Emrah Düzel, Elio Scarpini, Elisa Conti, Elisa Rubino, Ellen Gelpi, Eloy Rodríguez-Rodríguez, Emmanuelle Duron, Eric Boerwinkle, Evelyn Ferri, Fabrizio Tagliavini, Fahri Küçükali, Florence Pasquier, Florentino Sanchez-Garcia, Francesca Mangialasche, Frank Jessen, Gaël Nicolas, Geir Selbaek, Gemma Ortega, Geneviève Chêne, Georgios Hadjigeorgiou, Giacomina Rossi, Gianfranco Spalletta, Giorgio Giaccone, Giulia Grande, Giuliano Binetti, Goran Papenberg, Harald Hampel, Henri Bailly, Henrik Zetterberg, Hilkka Soininen, Ida K Karlsson, Ignacio Alvarez, Ildebrando Appollonio, Ina Giegling, Ingmar Skoog, Ingvild Saltvedt, Innocenzo Rainero, Irene Rosas Allende, Jakub Hort, Janine Diehl-Schmid, Jasper Van Dongen, Jean-Sébastien Vidal, Jenni Lehtisalo, Jens Wiltfang, Jesper Qvist Thomassen, Kornhuber Johannes, Jonathan L Haines, Jonathan S Vogelgsang, Juan Antonio Pineda, Juan Fortea, Julius Popp, Jürgen Deckert, Katharina Buerger, Kevin Morgan, Klaus Fließbach, Kristel Sleegers, Laura Molina-Porcel, Lena Kilander, Leonie Weinhold, Lindsay A Farrer, Li-San Wang, Luca Kleineidam, Lucia Farotti, Lucilla Parnetti, Lucio Tremolizzo, Lucrezia Hausner, Luisa Benussi, Lutz Froelich, Mohammad Arfan Ikram, M Candida Deniz-Naranjo, Magdalini Tsolaki, Maitée Rosende-Roca, Malin Löwenmark, Marc Hulsman, Marco Spallazzi, Margaret A Pericak-Vance, Margaret Esiri, María Bernal Sánchez-Arjona, Maria Carolina Dalmasso, María Teresa Martínez-Larrad, Marina Arcaro, Markus M Nöthen, Marta Fernández-Fuertes, Martin Dichgans, Martin Ingelsson, Martin J Herrmann, Martin Scherer, Martin Vyhnalek, Mary H Kosmidis, Mary Yannakoulia, Matthias Schmid, Michael Ewers, Michael T Heneka, Michael Wagner, Michela Scamosci, Miia Kivipelto, Mikko Hiltunen, Miren Zulaica, Montserrat Alegret, Myriam Fornage, Natalia Roberto, Natasja M van Schoor, Nazib M Seidu, Nerisa Banaj, Nicola J Armstrong, Nikolaos Scarmeas, Norbert Scherbaum, Oliver Goldhardt, Oliver Hanon, Oliver Peters, Olivia Anna Skrobot, Olivier Quenez, Ondrej Lerch, Paola Bossù, Paolo Caffarra, Paolo Dionigi Rossi, Paraskevi Sakka, Patrizia Mecocci, Per Hoffmann, Peter A Holmans, Peter Fischer, Peter Riederer, Qiong Yang, Rachel Marshall, Rajesh N Kalaria, Richard Mayeux, Rik Vandenberghe, Roberta Cecchetti, Roberta Ghidoni, Ruth Frikke-Schmidt, Sandro Sorbi, Sara Hägg, Sebastiaan Engelborghs, Seppo Helisalmi, Sigrid Botne Sando, Silke Kern, Silvana Archetti, Silvia Boschi, Silvia Fostinelli, Silvia Gil, Silvia Mendoza, Simon Mead, Simona Ciccone, Srdjan Djurovic, Stefanie Heilmann-Heimbach, Steffi Riedel-Heller, Teemu Kuulasmaa, Teodoro Del Ser, Thibaud Lebouvier, Thomas Polak, Tiia Ngandu, Timo Grimmer, Valentina Bessi, Valentina Escott-Price, Vilmantas Giedraitis, Vincent Deramecourt, Wolfgang Maier, Xueqiu Jian, Yolande A L Pijnenburg, null null, null null, null null, null null, null null, Patrick Gavin Kehoe, Guillermo Garcia-Ribas, Pascual Sánchez Juan, Pau Pastor, Jordi Pérez Tur, Gerard Piñol-Ripoll, Adolfo Lopez de Munain, Jose Maria García-Alberca, Maria Jesus Bullido, Victoria Álvarez, Alberto Lleó, Luis Miguel Real, Pablo Mir, Miguel Medina Padilla, Philip Scheltens, Henne Holstege, Marta Marquié, María Eugenia Sáez, Ángel Carracedo, Phillippe Amouyel, Gerard D Schellenberg, Julie Williams, Sudha Seshadri, Cornelia M Van Duijn, Karen A Mather, Raquel Sánchez-Valle, Manuel Serrano-Ríos, Adelina Orellana, Lluís Tárraga, Kaj Blennow, Martijn Huisman, Ole Andreas Andreassen, Danielle Posthuma, Jordi Clarimón, Merce Boada, Wiesje Maria van der Flier, Alfredo Ramirez, Jean-Charles Lambert, Sven J Van der Lee, Agustin Ruiz
Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores. Nature communications 14 (1) (2023)
Itziar De Rojas, Sonia Moreno-Grau, Niccolo Tesi, Benjamin Grenier-Boley, Victor Andrade, Iris E Jansen, Nancy L Pedersen, Najada Stringa, Anna Zettergren, Isabel Hernández, Laura Montrreal, Carmen Antúnez, Anna Antonell, Rick M Tankard, Joshua C Bis, Rebecca Sims, Celine Bellenguez, Inés Quintela, Antonio González-Perez, Miguel Calero Lara, Emilio Franco-Macías, Juan Macías, Rafael Blesa, Laura Cervera-Carles, Menéndez-González Manuel, Ana Frank-García, Jose Luís Royo, Fermin Moreno, Raquel Huerto Vilas, Miquel Baquero, Mónica Diez-Fairen, Carmen Lage, Sebastián García-Madrona, Pablo García González, Emilio Alarcón-Martín, Sergi Valero, Oscar Sotolongo-Grau, Abbe Ullgren, Adam C Naj, Afina W Lemstra, Alba Benaque, Alba Pérez-Cordón, Alberto Benussi, Alberto Rábano, Alessandro Padovani, Alessio Squassina, Alexandre de Mendonça, Alfonso Arias Pastor, Almar A L Kok, Alun Meggy, Ana Belén Pastor, Ana Espinosa, Anaïs Corma-Gómez, Angel Martín Montes, Ángela Sanabria, Anita L DeStefano, Anja Schneider, Annakaisa Haapasalo, Anne Kinhult Ståhlbom, Anne Tybjærg-Hansen, Annette M Hartmann, Annika Spottke, Arturo Corbatón-Anchuelo, Arvid Rongve, Barbara Borroni, Beatrice Arosio, Benedetta Nacmias, Børge Grønne Nordestgaard, Brian W Kunkle, Camille Charbonnier, Carla Abdelnour, Carlo Masullo, Carmen Martínez Rodríguez, Carmen Muñoz-Fernandez, Carole Dufouil, Caroline Graff, Catarina B Ferreira, Caterina Chillotti, Chandra A Reynolds, Chiara Fenoglio, Christine Van Broeckhoven, Christopher Clark, Claudia Pisanu, Claudia L Satizabal, Clive Holmes, Dolores Buiza-Rueda, Dag Aarsland, Dan Rujescu, Daniel Alcolea, Daniela Galimberti, David Wallon, Davide Seripa, Edna Grünblatt, Efthimios Dardiotis, Emrah Düzel, Elio Scarpini, Elisa Conti, Elisa Rubino, Ellen Gelpi, Eloy Rodríguez-Rodríguez, Emmanuelle Duron, Eric Boerwinkle, Evelyn Ferri, Fabrizio Tagliavini, Fahri Küçükali, Florence Pasquier, Florentino Sanchez-Garcia, Francesca Mangialasche, Frank Jessen, Gaël Nicolas, Geir Selbaek, Gemma Ortega, Geneviève Chêne, Georgios Hadjigeorgiou, Giacomina Rossi, Gianfranco Spalletta, Giorgio Giaccone, Giulia Grande, Giuliano Binetti, Goran Papenberg, Harald Hampel, Henri Bailly, Henrik Zetterberg, Hilkka Soininen, Ida K Karlsson, Ignacio Alvarez, Ildebrando Appollonio, Ina Giegling, Ingmar Skoog, Ingvild Saltvedt, Innocenzo Rainero, Irene Rosas Allende, Jakub Hort, Janine Diehl-Schmid, Jasper Van Dongen, Jean-Sébastien Vidal, Jenni Lehtisalo, Jens Wiltfang, Jesper Qvist Thomassen, Kornhuber Johannes, Jonathan L Haines, Jonathan S Vogelgsang, Juan Antonio Pineda, Juan Fortea, Julius Popp, Jürgen Deckert, Katharina Buerger, Kevin Morgan, Klaus Fließbach, Kristel Sleegers, Laura Molina-Porcel, Lena Kilander, Leonie Weinhold, Lindsay A Farrer, Li-San Wang, Luca Kleineidam, Lucia Farotti, Lucilla Parnetti, Lucio Tremolizzo, Lucrezia Hausner, Luisa Benussi, Lutz Froelich, Mohammad Arfan Ikram, M Candida Deniz-Naranjo, Magdalini Tsolaki, Maitée Rosende-Roca, Malin Löwenmark, Marc Hulsman, Marco Spallazzi, Margaret A Pericak-Vance, Margaret Esiri, María Bernal Sánchez-Arjona, Maria Carolina Dalmasso, María Teresa Martínez-Larrad, Marina Arcaro, Markus M Nöthen, Marta Fernández-Fuertes, Martin Dichgans, Martin Ingelsson, Martin J Herrmann, Martin Scherer, Martin Vyhnalek, Mary H Kosmidis, Mary Yannakoulia, Matthias Schmid, Michael Ewers, Michael T Heneka, Michael Wagner, Michela Scamosci, Miia Kivipelto, Mikko Hiltunen, Miren Zulaica, Montserrat Alegret, Myriam Fornage, Natalia Roberto, Natasja M van Schoor, Nazib M Seidu, Nerisa Banaj, Nicola J Armstrong, Nikolaos Scarmeas, Norbert Scherbaum, Oliver Goldhardt, Oliver Hanon, Oliver Peters, Olivia Anna Skrobot, Olivier Quenez, Ondrej Lerch, Paola Bossù, Paolo Caffarra, Paolo Dionigi Rossi, Paraskevi Sakka, Patrizia Mecocci, Per Hoffmann, Peter A Holmans, Peter Fischer, Peter Riederer, Qiong Yang, Rachel Marshall, Rajesh N Kalaria, Richard Mayeux, Rik Vandenberghe, Roberta Cecchetti, Roberta Ghidoni, Ruth Frikke-Schmidt, Sandro Sorbi, Sara Hägg, Sebastiaan Engelborghs, Seppo Helisalmi, Sigrid Botne Sando, Silke Kern, Silvana Archetti, Silvia Boschi, Silvia Fostinelli, Silvia Gil, Silvia Mendoza, Simon Mead, Simona Ciccone, Srdjan Djurovic, Stefanie Heilmann-Heimbach, Steffi Riedel-Heller, Teemu Kuulasmaa, Teodoro Del Ser, Thibaud Lebouvier, Thomas Polak, Tiia Ngandu, Timo Grimmer, Valentina Bessi, Valentina Escott-Price, Vilmantas Giedraitis, Vincent Deramecourt, Wolfgang Maier, Xueqiu Jian, Yolande A L Pijnenburg, null null, null null, null null, null null, null null, Patrick Gavin Kehoe, Guillermo Garcia-Ribas, Pascual Sánchez Juan, Pau Pastor, Jordi Pérez Tur, Gerard Piñol-Ripoll, Adolfo Lopez de Munain, Jose Maria García-Alberca, Maria Jesus Bullido, Victoria Álvarez, Alberto Lleó, Luis Miguel Real, Pablo Mir, Miguel Medina Padilla, Philip Scheltens, Henne Holstege, Marta Marquié, María Eugenia Sáez, Ángel Carracedo, Phillippe Amouyel, Gerard D Schellenberg, Julie Williams, Sudha Seshadri, Cornelia M Van Duijn, Karen A Mather, Raquel Sánchez-Valle, Manuel Serrano-Ríos, Adelina Orellana, Lluís Tárraga, Kaj Blennow, Martijn Huisman, Ole Andreas Andreassen, Danielle Posthuma, Jordi Clarimón, Merce Boada, Wiesje Maria van der Flier, Alfredo Ramirez, Jean-Charles Lambert, Sven J Van der Lee, Agustin Ruiz
Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores. Nature communications 14 (1) (2023)
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Anja Schneider, Annakaisa Haapasalo, Anne Kinhult Ståhlbom, Anne Tybjærg-Hansen, Annette M Hartmann, Annika Spottke, Arturo Corbatón-Anchuelo, Arvid Rongve, Barbara Borroni, Beatrice Arosio, Benedetta Nacmias, Børge Grønne Nordestgaard, Brian W Kunkle, Camille Charbonnier, Carla Abdelnour, Carlo Masullo, Carmen Martínez Rodríguez, Carmen Muñoz-Fernandez, Carole Dufouil, Caroline Graff, Catarina B Ferreira, Caterina Chillotti, Chandra A Reynolds, Chiara Fenoglio, Christine Van Broeckhoven, Christopher Clark, Claudia Pisanu, Claudia L Satizabal, Clive Holmes, Dolores Buiza-Rueda, Dag Aarsland, Dan Rujescu, Daniel Alcolea, Daniela Galimberti, David Wallon, Davide Seripa, Edna Grünblatt, Efthimios Dardiotis, Emrah Düzel, Elio Scarpini, Elisa Conti, Elisa Rubino, Ellen Gelpi, Eloy Rodríguez-Rodríguez, Emmanuelle Duron, Eric Boerwinkle, Evelyn Ferri, Fabrizio Tagliavini, Fahri Küçükali, Florence Pasquier, Florentino Sanchez-Garcia, Francesca Mangialasche, Frank Jessen, Gaël Nicolas, Geir Selbaek, Gemma Ortega, Geneviève Chêne, Georgios Hadjigeorgiou, Giacomina Rossi, Gianfranco Spalletta, Giorgio Giaccone, Giulia Grande, Giuliano Binetti, Goran Papenberg, Harald Hampel, Henri Bailly, Henrik Zetterberg, Hilkka Soininen, Ida K Karlsson, Ignacio Alvarez, Ildebrando Appollonio, Ina Giegling, Ingmar Skoog, Ingvild Saltvedt, Innocenzo Rainero, Irene Rosas Allende, Jakub Hort, Janine Diehl-Schmid, Jasper Van Dongen, Jean-Sébastien Vidal, Jenni Lehtisalo, Jens Wiltfang, Jesper Qvist Thomassen, Kornhuber Johannes, Jonathan L Haines, Jonathan S Vogelgsang, Juan Antonio Pineda, Juan Fortea, Julius Popp, Jürgen Deckert, Katharina Buerger, Kevin Morgan, Klaus Fließbach, Kristel Sleegers, Laura Molina-Porcel, Lena Kilander, Leonie Weinhold, Lindsay A Farrer, Li-San Wang, Luca Kleineidam, Lucia Farotti, Lucilla Parnetti, Lucio Tremolizzo, Lucrezia Hausner, Luisa Benussi, Lutz Froelich, Mohammad Arfan Ikram, M Candida Deniz-Naranjo, Magdalini Tsolaki, Maitée Rosende-Roca, Malin Löwenmark, Marc Hulsman, Marco Spallazzi, Margaret A Pericak-Vance, Margaret Esiri, María Bernal Sánchez-Arjona, Maria Carolina Dalmasso, María Teresa Martínez-Larrad, Marina Arcaro, Markus M Nöthen, Marta Fernández-Fuertes, Martin Dichgans, Martin Ingelsson, Martin J Herrmann, Martin Scherer, Martin Vyhnalek, Mary H Kosmidis, Mary Yannakoulia, Matthias Schmid, Michael Ewers, Michael T Heneka, Michael Wagner, Michela Scamosci, Miia Kivipelto, Mikko Hiltunen, Miren Zulaica, Montserrat Alegret, Myriam Fornage, Natalia Roberto, Natasja M van Schoor, Nazib M Seidu, Nerisa Banaj, Nicola J Armstrong, Nikolaos Scarmeas, Norbert Scherbaum, Oliver Goldhardt, Oliver Hanon, Oliver Peters, Olivia Anna Skrobot, Olivier Quenez, Ondrej Lerch, Paola Bossù, Paolo Caffarra, Paolo Dionigi Rossi, Paraskevi Sakka, Per Hoffmann, Peter A Holmans, Peter Fischer, Peter Riederer, Qiong Yang, Rachel Marshall, Rajesh N Kalaria, Richard Mayeux, Rik Vandenberghe, Roberta Cecchetti, Roberta Ghidoni, Ruth Frikke-Schmidt, Sandro Sorbi, Sara Hägg, Sebastiaan Engelborghs, Seppo Helisalmi, Sigrid Botne Sando, Silke Kern, Silvana Archetti, Silvia Boschi, Silvia Fostinelli, Silvia Gil, Silvia Mendoza, Simon Mead, Simona Ciccone, Srdjan Djurovic, Stefanie Heilmann-Heimbach, Steffi Riedel-Heller, Teemu Kuulasmaa, Teodoro Del Ser, Thibaud Lebouvier, Thomas Polak, Tiia Ngandu, Timo Grimmer, Valentina Bessi, Valentina Escott-Price, Vilmantas Giedraitis, Vincent Deramecourt, Wolfgang Maier, Xueqiu Jian, Yolande A L Pijnenburg, null null, null null, null null, null null, null null, Patrick Gavin Kehoe, Guillermo Garcia-Ribas, Pascual Sánchez Juan, Pau Pastor, Jordi Pérez Tur, Gerard Piñol-Ripoll, Adolfo Lopez de Munain, Jose Maria García-Alberca, Maria Jesus Bullido, Victoria Álvarez, Alberto Lleó, Luis Miguel Real, Pablo Mir, Miguel Medina Padilla, Philip Scheltens, Henne Holstege, Marta Marquié, María Eugenia Sáez, Ángel Carracedo, Phillippe Amouyel, Gerard D Schellenberg, Julie Williams, Sudha Seshadri, Cornelia M Van Duijn, Karen A Mather, Raquel Sánchez-Valle, Manuel Serrano-Ríos, Adelina Orellana, Lluís Tárraga, Kaj Blennow, Martijn Huisman, Ole Andreas Andreassen, Danielle Posthuma, Jordi Clarimón, Merce Boada, Wiesje Maria van der Flier, Alfredo Ramirez, Jean-Charles Lambert, Sven J Van der Lee, Agustin Ruiz
Common variants in Alzheimer's disease and risk stratification by polygenic risk scores. Nature communications 12 (1) (2021)
David Wallon, Susana Boluda, Anne Rovelet-Lecrux, Manon Thierry, Julien Lagarde, Laetitia Miguel, Magalie Lecourtois, Antoine Bonnevalle, Marie Sarazin, Michel Bottlaender, Mathieu Mula, Serge Marty, Natsuko Nakamura, Catherine Schramm, François Sellal, Thérèse Jonveaux, Camille Heitz, Isabelle Le Ber, Stéphane Epelbaum, Eloi Magnin, Aline Zarea, Stéphane Rousseau, Olivier Quenez, Didier Hannequin, Florence Clavaguera, Dominique Campion, Charles Duyckaerts, Gaël Nicolas
Clinical and neuropathological diversity of tauopathy in MAPT duplication carriers. Acta neuropathologica 142 (2) (2021)
Maud Blanluet, Sandra Chantot-Bastaraud, Pascal Chambon, Kévin Cassinari, Gabriella Vera, Alice Goldenberg, Boris Keren, Nathalie Le Meur, Didier Hannequin, Bertrand Mace, Jean-Pierre Siffroi, Thierry Frebourg, Gaël Nicolas, Géraldine Joly-Helas
Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings. American journal of medical genetics. Part A 185 (10) (2021)
Uriel López-Sánchez, Sandrine Tury, Gaël Nicolas, Miranda S C Wilson, Snejana Jurici, Xavier Ayrignac, Valérie Courgnaud, Adolfo Saiardi, Marc Sitbon, Jean-Luc Battini
Interplay between primary familial brain calcification-associated SLC20A2 and XPR1 phosphate transporters requires inositol polyphosphates for control of cellular phosphate homeostasis. The Journal of biological chemistry 295 (28) (2020)
Hana Saddiki, Aurore Fayosse, Emmanuel Cognat, Séverine Sabia, Sebastiaan Engelborghs, David Wallon, Panagiotis Alexopoulos, Kaj Blennow, Henrik Zetterberg, Lucilla Parnetti, Inga Zerr, Peter Hermann, Audrey Gabelle, Merce Boada, Adelina Orellana, Itziar De Rojas, Matthieu Lilamand, Maria Bjerke, Christine Van Broeckhoven, Lucia Farotti, Nicola Salvadori, Janine Diehl-Schmid, Timo Grimmer, Claire Hourregue, Aline Dugravot, Gaël Nicolas, Jean-Louis Laplanche, Sylvain Lehmann, Elodie Bouaziz-Amar, null null, Jacques Hugon, Christophe Tzourio, Archana Singh-Manoux, Claire Paquet, Julien Dumurgier
Age and the association between apolipoprotein E genotype and Alzheimer disease: A cerebrospinal fluid biomarker-based case-control study. PLoS medicine 17 (8) (2020)
Olivier Quenez, Kevin Cassinari, Sophie Coutant, François Lecoquierre, Kilan Le Guennec, Stéphane Rousseau, Anne-Claire Richard, Stéphanie Vasseur, Emilie Bouvignies, Jacqueline Bou, Gwendoline Lienard, Sandrine Manase, Steeve Fourneaux, Nathalie Drouot, Virginie Nguyen-Viet, Myriam Vezain, Pascal Chambon, Géraldine Joly-Helas, Nathalie Le Meur, Mathieu Castelain, Anne Boland-Auge, Jean-François Deleuze, null null, Isabelle Tournier, Françoise Charbonnier, Edwige Kasper, Gaëlle Bougeard, Thierry Frebourg, Pascale Saugier-Veber, Stéphanie Baert-Desurmont, Dominique Campion, Anne Rovelet-Lecrux, Gaël Nicolas
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation. European journal of human genetics : EJHG 29 (1) (2020)
Thomas Husson, François Lecoquierre, Kevin Cassinari, Camille Charbonnier, Olivier Quenez, Alice Goldenberg, Anne-Marie Guerrot, Anne-Claire Richard, Valérie Drouin-Garraud, Anne-Claire Brehin, Maryam Soleimani, Romain Taton, Maud Rotharmel, Antoine Rosier, Pascal Chambon, Nathalie Le Meur, Géraldine Joly-Helas, Pascale Saugier-Veber, Anne Boland-Auge, Jean-François Deleuze, Robert Olaso, Thierry Frebourg, Gaël Nicolas, Olivier Guillin, Dominique Campion
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use. Translational psychiatry 10 (1) (2020)
François Lecoquierre, Anne-Claire Brehin, Sophie Coutant, Juliette Coursimault, Anne Bazin, Wilfrid Finck, Guillaume Benoist, Marianne Begorre, Claire Beneteau, Daniel Cailliez, Pierre Chenal, Mirjam De Jong, Sophie Degré, Louise Devisme, Christine Francannet, Bénédicte Gérard, Corinne Jeanne, Madeleine Joubert, Hubert Journel, Hélène Laurichesse Delmas, Valérie Layet, Alain Liquier, Raphaele Mangione, Sophie Patrier, Fanny Pelluard, Florence Petit, Nadia Tillouche, Conny van Ravenswaaij-Arts, Thierry Frebourg, Pascale Saugier-Veber, Nicolas Gruchy, Gaël Nicolas, Marion Gerard
Exome sequencing identifies the first genetic determinants of sirenomelia in humans. Human mutation 41 (5) (2020)
Kévin Cassinari, Anne Rovelet-Lecrux, Sandrine Tury, Olivier Quenez, Anne-Claire Richard, Camille Charbonnier, Robert Olaso, Anne Boland, Jean-François Deleuze, Jean-François Besancenot, Benoit Delpont, Dorothée Pouliquen, François Lecoquierre, Pascal Chambon, Christel Thauvin-Robinet, Dominique Campion, Thierry Frebourg, Jean-Luc Battini, Gaël Nicolas
Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element. Movement disorders : official journal of the Movement Disorder Society 35 (8) (2020)
Francois Lecoquierre, Antoine Bonnevalle, Alexandra Chadie, Claire Gayet, Clémentine Dumant-Forest, Mariette Renaux-Petel, Jean-Baptiste Leca, Tristan Hazelzet, Marie Brasseur-Daudruy, Ferielle Louillet, Marc Muraine, Sophie Coutant, Olivier Quenez, Anne Boland, Jean-François Deleuze, Thierry Frebourg, Alice Goldenberg, Pascale Saugier-Veber, Anne-Marie Guerrot, Gaël Nicolas
Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder. American journal of medical genetics. Part A 179 (11) (2019)
Dominique Campion, Camille Charbonnier, Gaël Nicolas
SORL1 genetic variants and Alzheimer disease risk: a literature review and meta-analysis of sequencing data. Acta neuropathologica 138 (2) (2019)
Svetlana Gorokhova, Jeremie Mortreux, Alexandra Afenjar, Tania Attie-Bitach, Maud Blanluet, Valérie Cormier-Daire, Anne-Marie Guerrot, Anne-Sophie Lebre, Valérie Malan, Gaël Nicolas, Sophie Rondeau, Nicole Philip, Pascale Saugier-Veber, Catherine Badens, Chantal Missirian
Significant contribution of intragenic deletions to ARID1B mutation spectrum. Genetics in medicine : official journal of the American College of Medical Genetics 21 (11) (2019)
Uriel López-Sánchez, Gaël Nicolas, Anne-Claire Richard, David Maltête, Mahmoud Charif, Xavier Ayrignac, Cyril Goizet, Jawida Touhami, Gilles Labesse, Jean-Luc Battini, Marc Sitbon
Characterization of XPR1/SLC53A1 variants located outside of the SPX domain in patients with primary familial brain calcification. Scientific reports 9 (1) (2019)
Gaël Nicolas, Joris A Veltman
The role of de novo mutations in adult-onset neurodegenerative disorders. Acta neuropathologica 137 (2) (2018)
Joshua C Bis, Xueqiu Jian, Brian W Kunkle, Yuning Chen, Kara L Hamilton-Nelson, William S Bush, William J Salerno, Daniel Lancour, Yiyi Ma, Alan E Renton, Edoardo Marcora, John J Farrell, Yi Zhao, Liming Qu, Shahzad Ahmad, Najaf Amin, Phillippe Amouyel, Gary W Beecham, Jennifer E Below, Dominique Campion, Laura Cantwell, Camille Charbonnier, Jaeyoon Chung, Paul K Crane, Carlos Cruchaga, L Adrienne Cupples, Jean-François Dartigues, Stéphanie Debette, Jean-François Deleuze, Lucinda Fulton, Stacey B Gabriel, Emmanuelle Genin, Richard A Gibbs, Alison Mary Goate, Benjamin Grenier-Boley, Namrata Gupta, Jonathan L Haines, Aki S Havulinna, Seppo Helisalmi, Mikko Hiltunen, Daniel P Howrigan, Mohammad Arfan Ikram, Jaakko A Kaprio, Jan Konrad, Amanda Kuzma, Eric S Lander, Mark Lathrop, Terho Lehtimäki, Honghuang Lin, Kari Mattila, Richard Mayeux, Donna M Muzny, Waleed Nasser, Benjamin M Neale, Kwangsik Nho, Gaël Nicolas, Devanshi Patel, Margaret A Pericak-Vance, Markus Perola, Bruce M Psaty, Olivier Quenez, Farid Rajabli, Richard Redon, Christiane Reitz, Anne M Remes, Veikko Salomaa, Chloe Sarnowski, Helena Schmidt, Michael Schmidt, Reinhold Schmidt, Hilkka Soininen, Timothy A Thornton, Giuseppe Tosto, Christophe Tzourio, Sven J Van der Lee, Cornelia M van Duijn, Otto Valladares, Badri Vardarajan, Li-San Wang, Weixin Wang, Ellen Wijsman, Richard K Wilson, Daniela Witten, Kim C Worley, Xiaoling Zhang, null null, Celine Bellenguez, Jean-Charles Lambert, Mitja I Kurki, Aarno Palotie, Mark J Daly, Eric Boerwinkle, Kathryn L Lunetta, Anita L Destefano, Josée Dupuis, Eden R Martin, Gerard D Schellenberg, Sudha Seshadri, Adam C Naj, Myriam Fornage, Lindsay A Farrer
Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation. Molecular psychiatry 25 (8) (2018)
Eliana Marisa Ramos, Miryam Carecchio, Roberta Lemos, Joana Ferreira, Andrea Legati, Renee Louise Sears, Sandy Chan Hsu, Celeste Panteghini, Luca Magistrelli, Ettore Salsano, Silvia Esposito, Franco Taroni, Anne-Claire Richard, Christine Tranchant, Mathieu Anheim, Xavier Ayrignac, Cyril Goizet, Marie Vidailhet, David Maltete, David Wallon, Thierry Frebourg, Lylyan Pimentel, Daniel H Geschwind, Olivier Vanakker, Douglas Galasko, Brent L Fogel, A Micheil Innes, Alison Ross, William B Dobyns, Diana Alcantara, Mark O'Driscoll, Didier Hannequin, Dominique Campion, null null, João R Oliveira, Barbara Garavaglia, Giovanni Coppola, Gaël Nicolas
Primary brain calcification: an international study reporting novel variants and associated phenotypes. European journal of human genetics : EJHG 26 (10) (2018)
Gaël Nicolas, Camille Charbonnier, Dominique Campion, Joris A Veltman
Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 177 (1) (2017)

Gaël Nicolas.css-eqlu8i{font-size:small;padding-left:4px;} (Gael Nicolas)

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Gaël Nicolas (Gael Nicolas)