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Gaël Nicolas
CHU Rouen
48H指数
246论文数
1.3W被引数
收录论文 111
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The Chornobyl Dogs: Why Scientific Evaluation Must Accompany Population Management切尔诺贝利犬：为何科学评估必须伴随种群管理.png)
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2026-09-22
0
OAAI
Jean-Jacques Tuech; Olivier Guillin; Jean Pinson; Gaël Nicolas; Timothy A. Mousseau; Jennifer A. Betz
AnimalsIF2.7
2026-09-220OAAIJean-Jacques Tuech; Olivier Guillin; Jean Pinson; Gaël Nicolas; Timothy A. Mousseau; Jennifer A. Betz.png){kind=icon}
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收藏APOE-stratified genome-wide association analyses provide insights into the genetic etiology of Alzheimers’s diseaseAPOE分层的全基因组关联分析为阿尔茨海默病的遗传病因提供了见解Nature Genetics2026-09-140
OAAIJesper Qvist Thomassen; Hampton Leonard; Brittany Ulms; Benjamin Grenier-Boley; Sami Heikkinen; Pablo Garcia-González; Atahualapa Castillo-Morales; Masataka Kikuchi; Jungsoo Gim; Han Cao; Fahri Küçükali; Najaf Amin; Dabin Yoon; Itziar de Rojas; Pilar Alvarez Jerez; Victoria Alvarez; Beatrice Arosio; Céline Bellenguez; Sverre Bergh; Kimberley Billingsley; Cornelis Blauwendraat; Merce Boada; Barbara Borroni; Paola Bossù; María J. Bullido; Antonio Daniele; Ángel Carracedo; Alexandre de Mendonça; Mark Cookson; Jürgen Deckert; Martin Dichgans; Srdjan Djurovic; Oriol Dols-Icardo; Carole Dufouil; Emrah Düzel; Valentina Escott-Price; Tormod Fladby; Laura Fratiglioni; Amy K. Y. Fu; Daniela Galimberti; Jose Maria García-Alberca; Vilmantas Giedraitis; Guillermo Garcia-Ribas; Caroline Graff; Timo Grimmer; Edna Grünblatt; Olivier Hanon; Lucrezia Hausner; Stefanie Heilmann-Heimbach; Jakub Hort; Frank Jessen; Kendall Jensen; Caroline Jonson; Yoontae Kim; Nicole Kuznetsov; Ville Leinonen; Anssi Lipponen; Jiao Luo; Mary Makarious; Henna Martiskainen; Carlo Masullo; Patrizia Mecocci; Shima Mehrabian; Pablo Mir; Akinori Miyashita; Susanne Moebus; Kin Y. Mok; Laura Molina Porcel; Fermin Moreno; Benedetta Nacmias; Lucilla Parnetti; Pau Pastor; Jordi Pérez-Tur; Oliver Peters; Yolande A. L. Pijnenburg; Gerard Piñol-Ripoll; Julius Popp; Innocenzo Rainero; Luis M. Real; Steffi Riedel-Heller; Eloy Rodriguez-Rodriguez; Arvid Rongve; Giacomina Rossi; Jose Luis Royo; Dan Rujescu; Ingvild Saltvedt; María Eugenia Sáez; Raquel Sánchez-Valle; Florentino Sanchez-Garcia; Nicolai Sandau; Nikolaos Scarmeas; Katja Scheffler; Norbert Scherbaum; Anja Schneider; Geir Selbæk; Davide Seripa; Vincenzo Solfrizzi; Marco Spallazzi; Alessio Squassina; Eystein Stordal; Niccoló Tesi; Lucio Tremolizzo; Kumar P. Tripathi; Wiesje M. van der Flier; Julie Williams; Jens Wiltfang; Dag Aarsland; Andrew B. Singleton; Philippe Amouyel; Stéphanie Debette; Magda Tsolaki; Gael Nicolas; Sven van der Lee; Henne Holstege; Maria Victoria Fernandez; Patrick Gavin Kehoe; Kristel Sleegers; Martin Ingelsson; Roberta Ghidoni; Ole A. Andreassen; Peter A. Holmans; Pascual Sánchez-Juan; Rebecca Sims; Nancy Y. Ip; Kun Ho Lee; Takeshi Ikeuchi; Alfredo Ramirez; Agustin Ruiz; Mikko Hiltunen; Jean-Charles Lambert; Cornelia van Duijn; Mike Nalls; Ruth Frikke-Schmidt
Nature GeneticsIF29
2026-09-140OAAIJesper Qvist Thomassen; Hampton Leonard; Brittany Ulms; Benjamin Grenier-Boley; Sami Heikkinen; Pablo Garcia-González; Atahualapa Castillo-Morales; Masataka Kikuchi; Jungsoo Gim; Han Cao; Fahri Küçükali; Najaf Amin; Dabin Yoon; Itziar de Rojas; Pilar Alvarez Jerez; Victoria Alvarez; Beatrice Arosio; Céline Bellenguez; Sverre Bergh; Kimberley Billingsley; Cornelis Blauwendraat; Merce Boada; Barbara Borroni; Paola Bossù; María J. Bullido; Antonio Daniele; Ángel Carracedo; Alexandre de Mendonça; Mark Cookson; Jürgen Deckert; Martin Dichgans; Srdjan Djurovic; Oriol Dols-Icardo; Carole Dufouil; Emrah Düzel; Valentina Escott-Price; Tormod Fladby; Laura Fratiglioni; Amy K. Y. Fu; Daniela Galimberti; Jose Maria García-Alberca; Vilmantas Giedraitis; Guillermo Garcia-Ribas; Caroline Graff; Timo Grimmer; Edna Grünblatt; Olivier Hanon; Lucrezia Hausner; Stefanie Heilmann-Heimbach; Jakub Hort; Frank Jessen; Kendall Jensen; Caroline Jonson; Yoontae Kim; Nicole Kuznetsov; Ville Leinonen; Anssi Lipponen; Jiao Luo; Mary Makarious; Henna Martiskainen; Carlo Masullo; Patrizia Mecocci; Shima Mehrabian; Pablo Mir; Akinori Miyashita; Susanne Moebus; Kin Y. Mok; Laura Molina Porcel; Fermin Moreno; Benedetta Nacmias; Lucilla Parnetti; Pau Pastor; Jordi Pérez-Tur; Oliver Peters; Yolande A. L. Pijnenburg; Gerard Piñol-Ripoll; Julius Popp; Innocenzo Rainero; Luis M. Real; Steffi Riedel-Heller; Eloy Rodriguez-Rodriguez; Arvid Rongve; Giacomina Rossi; Jose Luis Royo; Dan Rujescu; Ingvild Saltvedt; María Eugenia Sáez; Raquel Sánchez-Valle; Florentino Sanchez-Garcia; Nicolai Sandau; Nikolaos Scarmeas; Katja Scheffler; Norbert Scherbaum; Anja Schneider; Geir Selbæk; Davide Seripa; Vincenzo Solfrizzi; Marco Spallazzi; Alessio Squassina; Eystein Stordal; Niccoló Tesi; Lucio Tremolizzo; Kumar P. Tripathi; Wiesje M. van der Flier; Julie Williams; Jens Wiltfang; Dag Aarsland; Andrew B. Singleton; Philippe Amouyel; Stéphanie Debette; Magda Tsolaki; Gael Nicolas; Sven van der Lee; Henne Holstege; Maria Victoria Fernandez; Patrick Gavin Kehoe; Kristel Sleegers; Martin Ingelsson; Roberta Ghidoni; Ole A. Andreassen; Peter A. Holmans; Pascual Sánchez-Juan; Rebecca Sims; Nancy Y. Ip; Kun Ho Lee; Takeshi Ikeuchi; Alfredo Ramirez; Agustin Ruiz; Mikko Hiltunen; Jean-Charles Lambert; Cornelia van Duijn; Mike Nalls; Ruth Frikke-Schmidt分享收藏PLCG2 downregulation impairs synaptic function and increases Alzheimer’s disease hallmarks in neuronal culturesPLCγ2下调损害突触功能并增加神经元培养物中的阿尔茨海默病标志物Nature Genetics2026-08-140OAAIAudrey Coulon; Florian Rabiller; Mari Takalo; Avishek Roy; Alexandre Pelletier; Henna Martiskainen; Dolores Siedlecki-Wullich; Nina Lannette-Weimann; Naďa Majerníková; Arthur Grenon; Vance Gao; Anaël Erhardt; Anne Pernodet; Morgane Lemaire; Floriane Limoge; Pauline Walle; Tiago Mendes; Karine Guyot; Célia Lemeu; Lukas-Iohan Carvalho; Ana Raquel Melo de Farias; Marc Hulsman; Chloé Najdek; Alejandra Freire-Regatillo; Orthis Saha; Philippe Amouyel; Camille Charbonnier; Jean-François Deleuze; Orio Dols-Icardo; Heli Jeskanen; Roosa-Maria Willman; Teemu Kuulasmaa; Mitja Kurki; John Hardy; Sami Heikkinen; Henne Holstege; Petra Mäkinen; Gaël Nicolas; Simon Mead; Michael Wagner; Alfredo Ramirez; Tuomas Rauramaa; Aarno Palotie; Rebecca Sims; Hilkka Soininen; John van Swieten; Julie Williams; Céline Bellenguez; Carla Gelle; Erwan Lambert; Marcos R. Costa; Julia TCW; Enrico Glaab; Anne-Marie Ayral; Florie Demiautte; Benjamin Grenier-Boley; Manon Muntaner; Delphine Eberlé; Séverine Deforges; Joel T. Haas; Devrim Kilinc; Christophe Mulle; Julien Chapuis; Mikko Hiltunen; Julie Dumont; Jean-Charles Lambert
Nature GeneticsIF29
2026-08-140OAAIAudrey Coulon; Florian Rabiller; Mari Takalo; Avishek Roy; Alexandre Pelletier; Henna Martiskainen; Dolores Siedlecki-Wullich; Nina Lannette-Weimann; Naďa Majerníková; Arthur Grenon; Vance Gao; Anaël Erhardt; Anne Pernodet; Morgane Lemaire; Floriane Limoge; Pauline Walle; Tiago Mendes; Karine Guyot; Célia Lemeu; Lukas-Iohan Carvalho; Ana Raquel Melo de Farias; Marc Hulsman; Chloé Najdek; Alejandra Freire-Regatillo; Orthis Saha; Philippe Amouyel; Camille Charbonnier; Jean-François Deleuze; Orio Dols-Icardo; Heli Jeskanen; Roosa-Maria Willman; Teemu Kuulasmaa; Mitja Kurki; John Hardy; Sami Heikkinen; Henne Holstege; Petra Mäkinen; Gaël Nicolas; Simon Mead; Michael Wagner; Alfredo Ramirez; Tuomas Rauramaa; Aarno Palotie; Rebecca Sims; Hilkka Soininen; John van Swieten; Julie Williams; Céline Bellenguez; Carla Gelle; Erwan Lambert; Marcos R. Costa; Julia TCW; Enrico Glaab; Anne-Marie Ayral; Florie Demiautte; Benjamin Grenier-Boley; Manon Muntaner; Delphine Eberlé; Séverine Deforges; Joel T. Haas; Devrim Kilinc; Christophe Mulle; Julien Chapuis; Mikko Hiltunen; Julie Dumont; Jean-Charles Lambert分享收藏Assessing the de novo paradigm in sporadic early-onset Alzheimer disease trios评估散发性早发型阿尔茨海默病家系中的从头测序范例Molecular Psychiatry2026-05-290OAAIAline Zarea; Kevin Cassinari; François Lecoquierre; Olivier Quenez; Camille Charbonnier; Catherine Schramm; Morgane Lacour; Stéphane Rousseau; Anne-Claire Richard; Anne Rovelet-Lecrux; Magalie Lecourtois; Robert Olaso; Anne Boland; Jean-François Deleuze; Christian Gilissen; Joris A. Veltman; Lisenka ELM Vissers; Céline Bellenguez; Orio Dols-Icardo; John Hardy; Henne Holstege; Marc Hulsman; Jean-Charles Lambert; Simon Mead; Alfredo Ramirez; Rebecca Sims; John van Swieten; Michael Wagner; Julie Williams; Stéphanie Bombois; Claire Boutoleau-Bretonniere; Ludivine Charmard-Witkowski; Vincent de la Sayette; Vincent Deramecourt; Frédérique Etcharry-Bouyx; Audrey Gabelle; Claude Gueriot; Gwenaël Le Guyader; Isabelle Le Ber; Thibaud Lebouvier; Olivier Martinaud; Agnès Michon; Chloé Quelin; Marie Sarazin; Mathieu Sévin; Christel Thauvin-Robinet; David Wallon; Gaël Nicolas
Molecular PsychiatryIF10.1
2026-05-290OAAIAline Zarea; Kevin Cassinari; François Lecoquierre; Olivier Quenez; Camille Charbonnier; Catherine Schramm; Morgane Lacour; Stéphane Rousseau; Anne-Claire Richard; Anne Rovelet-Lecrux; Magalie Lecourtois; Robert Olaso; Anne Boland; Jean-François Deleuze; Christian Gilissen; Joris A. Veltman; Lisenka ELM Vissers; Céline Bellenguez; Orio Dols-Icardo; John Hardy; Henne Holstege; Marc Hulsman; Jean-Charles Lambert; Simon Mead; Alfredo Ramirez; Rebecca Sims; John van Swieten; Michael Wagner; Julie Williams; Stéphanie Bombois; Claire Boutoleau-Bretonniere; Ludivine Charmard-Witkowski; Vincent de la Sayette; Vincent Deramecourt; Frédérique Etcharry-Bouyx; Audrey Gabelle; Claude Gueriot; Gwenaël Le Guyader; Isabelle Le Ber; Thibaud Lebouvier; Olivier Martinaud; Agnès Michon; Chloé Quelin; Marie Sarazin; Mathieu Sévin; Christel Thauvin-Robinet; David Wallon; Gaël Nicolas分享收藏Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathiesCHD3相关Snijders Blok-Campeau综合征的表观特征识别揭示了CHARGE综合征表观特征的异质性：迈向对染色质病变更好的表征Genome Medicine2026-04-080OAAIAmandine Santini; Angelo Tognon; Anne-Claire Richard; Guillaume Velasco; Gilles Phan; Pauline Marzin; Fabien Maury; Angele May; Caroline Michot; Adela Chirita-Emandi; Jorge M. Saraiva; Maria Juliana Ballesta-Martinez; Stanislas Lyonnet; Ivona Sansović; Tahsin Stefan Barakat; Perrine Brunelle; Jamal Ghoumid; Xavier Le Guillou; Pauline Le Tanno; Marjolaine Willems; Martin Zenker; Ina Schanze; Stéphanie Moortgat; Bertrand Isidor; Alix Paulet; Alison Yeung; Jonathan Levy; Federica Ruscitti; Leticia Pias-Peleteiro; Marlène Rio; Thomas Courtin; Hamza Hadj Abdallah; Stéphanie Ducreux; Jean-Sérène Laloy; Paul Rollier; Anne-Marie Guerrot; Nicolas Chatron; Florence Demurger; Alice Goldenberg; Julian Delanne; Laurence Faivre; François Lecoquierre; Gaël Nicolas; Aurélie Coussement; Corinne Collet; Yvan Herenger; Matthieu Defrance; Valérie Cormier-Daire; Camille Charbonnier; Maud de Dieuleveult
Genome MedicineIF11.2
2026-04-080OAAIAmandine Santini; Angelo Tognon; Anne-Claire Richard; Guillaume Velasco; Gilles Phan; Pauline Marzin; Fabien Maury; Angele May; Caroline Michot; Adela Chirita-Emandi; Jorge M. Saraiva; Maria Juliana Ballesta-Martinez; Stanislas Lyonnet; Ivona Sansović; Tahsin Stefan Barakat; Perrine Brunelle; Jamal Ghoumid; Xavier Le Guillou; Pauline Le Tanno; Marjolaine Willems; Martin Zenker; Ina Schanze; Stéphanie Moortgat; Bertrand Isidor; Alix Paulet; Alison Yeung; Jonathan Levy; Federica Ruscitti; Leticia Pias-Peleteiro; Marlène Rio; Thomas Courtin; Hamza Hadj Abdallah; Stéphanie Ducreux; Jean-Sérène Laloy; Paul Rollier; Anne-Marie Guerrot; Nicolas Chatron; Florence Demurger; Alice Goldenberg; Julian Delanne; Laurence Faivre; François Lecoquierre; Gaël Nicolas; Aurélie Coussement; Corinne Collet; Yvan Herenger; Matthieu Defrance; Valérie Cormier-Daire; Camille Charbonnier; Maud de Dieuleveult分享收藏Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathiessnRNA基因的系统分析揭示了显性和隐性发育性和癫痫性脑病中常见的RNU2-2变异Nature Genetics2026-03-300OAAIElsa Leitão; Amandine Santini; Benjamin Cogne; Miriam Essid; Maria Athanasiadou; Christy W. LaFlamme; Pierre Marijon; Virginie Bernard; Kevin Jousselin; Nicolas Chatron; Giulia Barcia; Boris Keren; Cyril Mignot; Perrine Charles; Thomas Besnard; Robin Paluch; Jean-Madeleine de Sainte Agathe; Edith P. Almanza Fuerte; Soham Sengupta; Mathieu Milh; Francis Ramond; Talia Allan; Isabelle An; Camila Araujo; Stéphanie Arpin; Christina Austin-Tse; Stéphane Auvin; Sarah Baer; Nadia Bahi-Buisson; Mads Bak; Magalie Barth; Stéphanie Baulac; Nathalie Bednarek-Weirauch; Matthias Begemann; Mark F. Bennett; Uriel Bensabath; Stéphane Bézieau; Rakia Bhouri; Margaux Biehler; Trine Bjørg Hammer; Julie Bogoin; Emilie Bonanno; Simon Boussion; Céline Bris; Adelaide Brosseau-Beauvir; Ange-Line Bruel; Audrey Briand-Suleau; Julien Buratti; Tristan Celse; Pascal Chambon; Nicole Chemaly; Bertrand Chesneau; Estelle Colin; Maxime Colmard; Cindy Colson; Solène Conrad; Thomas Courtin; Isabelle Creveaux; Anne-Charlotte Cullier; Louis T. Dang; Anne de Saint Martin; Caroline de Vanssay de Blavous Legendre; Bénédicte Demeer; Anne-Sophie Denommé-Pichon; Philine Diekhoff; Stephanie DiTroia; Martine Doco-Fenzy; Christèle Dubourg; Charlotte Dubucs; Stéphanie Ducreux; Louis Dufour; Romain Duquet; Benjamin Durand; Salima El Chehadeh; Miriam Elbracht; Laurence Faivre; Marie Faoucher; Anne Faudet; Sylvie Forlani; Mélanie Fradin; Pauline Gaignard; Benjamin Ganne; Aurore Garde; Justine Géraud; Deepak Gill; Alice Goldenberg; David Grabli; Coraline Grisel; Sophie Gueden; Paul Gueguen; Anne-Marie Guerrot; Agnès Guichet; Tobias B. Haack; Nina Härting; Martin Georg Häusler; Solveig Heide; Theresia Herget; Bénédicte Héron; Delphine Héron; Johanna Herwig; Mathilde Heulin; Tess Holling; Clara Houdayer; Bertrand Isidor; Aurélia Jacquette; Louis Januel; Nolwenn Jean-Marçais; Frank J. Kaiser; Sabine Kaya; Chontelle King; Marina Konyukh; Florian Kraft; Jeremias Krause; Rémi Kirstetter; Alma Kuechler; Ingo Kurth; Kerstin Kutsche; Audrey Labalme; Jean-Serene Laloy; Vincent Laugel; Floriane Le Bricquir; Anne-Sophie Lèbre; Marine Lebrun; Eric Leguern; Jonathan Levy; Nico Lieffering; Stanislas Lyonnet; Kevin Lüthy; Sian M. W. Macdonald; Lamisse Mansour-Hendili; Julien Maraval; Iris Marquardt; Carolin Mattausch; Sandra Mercier; Olfa Messaoud; Godelieve Morel; Jérémie Mortreux; Arnold Munnich; Rima Nabbout; Sophie Nambot; Vincent Navarro; Ashana Neale; Laetitia Nguyen; Mathilde Nizon; Frédérique Nowak; Melanie C. O’Leary; Sylvie Odent; Naomi Meave Ojeda; Valérie Olin; Simone Olivieri; Katrin Õunap; Lynn S. Pais; Eleni Panagiotakaki; Olivier Patat; Laurence Perrin-Sabourin; Florence Petit; Christophe Philippe; Amélie Piton; Marc Planes; Céline Poirsier; Antoine Pouzet; Clément Prouteau; Sylvia Quéméner-Redon; Mathilde Renaud; Anne-Claire Richard; Marlène Rio; Clotilde Rivier; Florence Robin-Renaldo; Paul Rollier; Massimiliano Rossi; Agathe Roubertie; Valentin Ruault; Maïlys Rupin-Mas; Pascale Saugier-Veber; Aline Saunier; Russell Saneto; Elisabeth Sarrazin; Catherine Sarret; Elise Schaefer; Caroline Schluth-Bolard; Amy Schneider; Isabell Schumann; Vladimir B. Seplyarskiy; Stephanie Spranger; Thomas Smol; Marc Sturm; Shamil R. Sunyaev; Brian Sperelakis-Beedham; Sarah L. Stenton; Friedrich Stock; Mylène Tharreau; Deniz Torun; Joseph Toulouse; Harshini Thiyagarajah; Stéphanie Valence; Sophie Valleix; Julien Van-Gils; Laurent Villard; Dorothée Ville; Nathalie Villeneuve; Antonio Vitobello; Aurélie Waernessyckle; Jan Wagner; Yvonne Weber; Dagmar Wieczorek; Tom Witkowski; Manya Yadavilli; Tony Yammine; Khaoula Zaafrane-Khachnaoui; Maha S. Zaki; Alban Ziegler; Nuria C. Bramswig; Alban Lermine; Gael Nicolas; Joseph G. Gleeson; Lynette G. Sadleir; Michael S. Hildebrand; Ingrid E. Scheffer; Nicola Whiffin; Anne O’Donnell-Luria; Heather C. Mefford; Pierre Blanc; Julien Thevenon; Camille Charbonnier; Clément Charenton; Christel Depienne; Gaetan Lesca; Caroline Nava
Nature GeneticsIF29
2026-03-300OAAIElsa Leitão; Amandine Santini; Benjamin Cogne; Miriam Essid; Maria Athanasiadou; Christy W. LaFlamme; Pierre Marijon; Virginie Bernard; Kevin Jousselin; Nicolas Chatron; Giulia Barcia; Boris Keren; Cyril Mignot; Perrine Charles; Thomas Besnard; Robin Paluch; Jean-Madeleine de Sainte Agathe; Edith P. Almanza Fuerte; Soham Sengupta; Mathieu Milh; Francis Ramond; Talia Allan; Isabelle An; Camila Araujo; Stéphanie Arpin; Christina Austin-Tse; Stéphane Auvin; Sarah Baer; Nadia Bahi-Buisson; Mads Bak; Magalie Barth; Stéphanie Baulac; Nathalie Bednarek-Weirauch; Matthias Begemann; Mark F. Bennett; Uriel Bensabath; Stéphane Bézieau; Rakia Bhouri; Margaux Biehler; Trine Bjørg Hammer; Julie Bogoin; Emilie Bonanno; Simon Boussion; Céline Bris; Adelaide Brosseau-Beauvir; Ange-Line Bruel; Audrey Briand-Suleau; Julien Buratti; Tristan Celse; Pascal Chambon; Nicole Chemaly; Bertrand Chesneau; Estelle Colin; Maxime Colmard; Cindy Colson; Solène Conrad; Thomas Courtin; Isabelle Creveaux; Anne-Charlotte Cullier; Louis T. Dang; Anne de Saint Martin; Caroline de Vanssay de Blavous Legendre; Bénédicte Demeer; Anne-Sophie Denommé-Pichon; Philine Diekhoff; Stephanie DiTroia; Martine Doco-Fenzy; Christèle Dubourg; Charlotte Dubucs; Stéphanie Ducreux; Louis Dufour; Romain Duquet; Benjamin Durand; Salima El Chehadeh; Miriam Elbracht; Laurence Faivre; Marie Faoucher; Anne Faudet; Sylvie Forlani; Mélanie Fradin; Pauline Gaignard; Benjamin Ganne; Aurore Garde; Justine Géraud; Deepak Gill; Alice Goldenberg; David Grabli; Coraline Grisel; Sophie Gueden; Paul Gueguen; Anne-Marie Guerrot; Agnès Guichet; Tobias B. Haack; Nina Härting; Martin Georg Häusler; Solveig Heide; Theresia Herget; Bénédicte Héron; Delphine Héron; Johanna Herwig; Mathilde Heulin; Tess Holling; Clara Houdayer; Bertrand Isidor; Aurélia Jacquette; Louis Januel; Nolwenn Jean-Marçais; Frank J. Kaiser; Sabine Kaya; Chontelle King; Marina Konyukh; Florian Kraft; Jeremias Krause; Rémi Kirstetter; Alma Kuechler; Ingo Kurth; Kerstin Kutsche; Audrey Labalme; Jean-Serene Laloy; Vincent Laugel; Floriane Le Bricquir; Anne-Sophie Lèbre; Marine Lebrun; Eric Leguern; Jonathan Levy; Nico Lieffering; Stanislas Lyonnet; Kevin Lüthy; Sian M. W. Macdonald; Lamisse Mansour-Hendili; Julien Maraval; Iris Marquardt; Carolin Mattausch; Sandra Mercier; Olfa Messaoud; Godelieve Morel; Jérémie Mortreux; Arnold Munnich; Rima Nabbout; Sophie Nambot; Vincent Navarro; Ashana Neale; Laetitia Nguyen; Mathilde Nizon; Frédérique Nowak; Melanie C. O’Leary; Sylvie Odent; Naomi Meave Ojeda; Valérie Olin; Simone Olivieri; Katrin Õunap; Lynn S. Pais; Eleni Panagiotakaki; Olivier Patat; Laurence Perrin-Sabourin; Florence Petit; Christophe Philippe; Amélie Piton; Marc Planes; Céline Poirsier; Antoine Pouzet; Clément Prouteau; Sylvia Quéméner-Redon; Mathilde Renaud; Anne-Claire Richard; Marlène Rio; Clotilde Rivier; Florence Robin-Renaldo; Paul Rollier; Massimiliano Rossi; Agathe Roubertie; Valentin Ruault; Maïlys Rupin-Mas; Pascale Saugier-Veber; Aline Saunier; Russell Saneto; Elisabeth Sarrazin; Catherine Sarret; Elise Schaefer; Caroline Schluth-Bolard; Amy Schneider; Isabell Schumann; Vladimir B. Seplyarskiy; Stephanie Spranger; Thomas Smol; Marc Sturm; Shamil R. Sunyaev; Brian Sperelakis-Beedham; Sarah L. Stenton; Friedrich Stock; Mylène Tharreau; Deniz Torun; Joseph Toulouse; Harshini Thiyagarajah; Stéphanie Valence; Sophie Valleix; Julien Van-Gils; Laurent Villard; Dorothée Ville; Nathalie Villeneuve; Antonio Vitobello; Aurélie Waernessyckle; Jan Wagner; Yvonne Weber; Dagmar Wieczorek; Tom Witkowski; Manya Yadavilli; Tony Yammine; Khaoula Zaafrane-Khachnaoui; Maha S. Zaki; Alban Ziegler; Nuria C. Bramswig; Alban Lermine; Gael Nicolas; Joseph G. Gleeson; Lynette G. Sadleir; Michael S. Hildebrand; Ingrid E. Scheffer; Nicola Whiffin; Anne O’Donnell-Luria; Heather C. Mefford; Pierre Blanc; Julien Thevenon; Camille Charbonnier; Clément Charenton; Christel Depienne; Gaetan Lesca; Caroline Nava分享收藏Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtypecohesin加载器亚基MAU2的致病性变异是独特的Cornelia de Lange综合征亚型的基础Nature Communications2026-03-300OAAIIlaria Parenti; Alina Hesters; Marta Gil-Salvador; Laura Duffy; Deniz Kanber; Jasmin Beygo; Jennifer Kerkhof; Laura Steenpaß; Elsa Leitão; Julia Woestefeld; Philip M. Boone; Emeline M. Kao; Lama Alabdi; Hesham M. Aldhalaan; Fowzan S. Alkuraya; Muneera J. Alshammari; Stylianos E. Antonarakis; Donald Basel; Kevin Cassinari; Laurana de Polli Cellin; Amanda R. Clause; Alexander Augusto de Lima Jorge; Andréa de Castro Leal; Stephan C. Collins; Benjamin Durand; Juliane Eckhold; Mais O. Hashem; Parul Jayakar; Arif O. Khan; Kohji Kato; Regina Kubica; Gholson J. Lyon; Elaine Marchi; Julie McCarrier; Lara K. Kimmig; Seiji Mizuno; Gael Nicolas; Yosuke Nishio; Tomoo Ogi; Juan Pié; Jordyn Prell; Beatriz Puisac; Feliciano J. Ramos; Emmanuelle Ranza; Claire Redin; Eric Rush; Shinji Saitoh; Hanan E. Shamseldin; Susan Starling; Esteban Astiazaran-Symonds; Sara H. Eltahir; Alma Kuechler; Bekim Sadikovic; Binnaz Yalcin; Kerstin S. Wendt; Frank J. Kaiser
Nature CommunicationsIF15.7
2026-03-300OAAIIlaria Parenti; Alina Hesters; Marta Gil-Salvador; Laura Duffy; Deniz Kanber; Jasmin Beygo; Jennifer Kerkhof; Laura Steenpaß; Elsa Leitão; Julia Woestefeld; Philip M. Boone; Emeline M. Kao; Lama Alabdi; Hesham M. Aldhalaan; Fowzan S. Alkuraya; Muneera J. Alshammari; Stylianos E. Antonarakis; Donald Basel; Kevin Cassinari; Laurana de Polli Cellin; Amanda R. Clause; Alexander Augusto de Lima Jorge; Andréa de Castro Leal; Stephan C. Collins; Benjamin Durand; Juliane Eckhold; Mais O. Hashem; Parul Jayakar; Arif O. Khan; Kohji Kato; Regina Kubica; Gholson J. Lyon; Elaine Marchi; Julie McCarrier; Lara K. Kimmig; Seiji Mizuno; Gael Nicolas; Yosuke Nishio; Tomoo Ogi; Juan Pié; Jordyn Prell; Beatriz Puisac; Feliciano J. Ramos; Emmanuelle Ranza; Claire Redin; Eric Rush; Shinji Saitoh; Hanan E. Shamseldin; Susan Starling; Esteban Astiazaran-Symonds; Sara H. Eltahir; Alma Kuechler; Bekim Sadikovic; Binnaz Yalcin; Kerstin S. Wendt; Frank J. Kaiser分享收藏Revealing the impact of partial gene duplications in ASH1L: integration of optical genome mapping and RNA sequencing揭示ASH1L中部分基因复制的影响：光学基因组作图与RNA测序的整合2025-12-020Blavier, Gregoire; Lecoquierre, Francois; Guerrot, Anne-Marie; Helas, Geraldine Joly; Rondeau, Stephane; Boland, Anne; Deleuze, Jean-Francois; Nicolas, Gael; Chambon, Pascal; Cassinari, Kevin
2025-12-020PREAI
Blavier, Gregoire; Lecoquierre, Francois; Guerrot, Anne-Marie; Helas, Geraldine Joly; Rondeau, Stephane; Boland, Anne; Deleuze, Jean-Francois; Nicolas, Gael; Chambon, Pascal; Cassinari, Kevin分享收藏Primary Brain Calcification: An International Consensus on Nomenclature, Diagnosis, Evaluation, and Management原发性脑钙化：关于命名、诊断、评估和管理的国际共识MOVEMENT DISORDERS2025-12-010Luo, Wei; Cen, Zhidong; Koek, Huiberdina; Carecchio, Miryam; Hozumi, Isao; Chen, Wan-Jin; Batla, Amit; Balck, Alexander; Magrinelli, Francesca; Yang, Dehao; Cheng, Xuewen; Westenberger, Ana; Kakita, Akiyoshi; Chen, Liam; Lambert, Christian; Liu, Jing-Yu; Keller, Annika; De Oliveira, Joao Ricardo Mendes; Xiong, Zhi-Qi; Houlden, Henry; Bhatia, Kailash P.; Klein, Christine; Nicolas, Gael
MOVEMENT DISORDERSIF7.6
2025-12-010PREAI
Luo, Wei; Cen, Zhidong; Koek, Huiberdina; Carecchio, Miryam; Hozumi, Isao; Chen, Wan-Jin; Batla, Amit; Balck, Alexander; Magrinelli, Francesca; Yang, Dehao; Cheng, Xuewen; Westenberger, Ana; Kakita, Akiyoshi; Chen, Liam; Lambert, Christian; Liu, Jing-Yu; Keller, Annika; De Oliveira, Joao Ricardo Mendes; Xiong, Zhi-Qi; Houlden, Henry; Bhatia, Kailash P.; Klein, Christine; Nicolas, Gael分享收藏Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development彭X.; 贾X.; 王H.; 陈J.; 张X.; 谭S.; 段X.; 丘C.; 胡M.; 侯H.; 等. 破坏整合器复合物亚基INTS6会导致神经发育障碍并损害神经发生和突触发育。J. Clin. Investig. 2025, 18, e191729. [Google Scholar] [CrossRef]2025-11-171OAAIPeng, Xiaoxia; Jia, Xiangbin; Wang, Hanying; Chen, Jingjing; Zhang, Xiaolei; Tan, Senwei; Duan, Xinyu; Qiu, Can; Hu, Mengyuan; Hou, Haiyan; Parenti, Ilaria; Kuechler, Alma; Kaiser, Frank J.; Renck, Alicia; Caylor, Raymond; Skinner, Cindy; Peeden, Joseph; Cogne, Benjamin; Isidor, Bertrand; Mercier, Sandra; Nicolas, Gael; Guerrot, Anne-Marie; Faletra, Flavio; Musante, Luciana; Cohen, Lior; Bergant, Gaber; Cuturilo, Goran; Peterlin, Borut; Seeley, Andrea; Bachman, Kristine; Martinez-Agosto, Julian A.; Van Ravenswaaij-Arts, Conny; Bos, Dennis; Kim, Katherine H.; Bartolomaeus, Tobias; Schmederer, Zelia; Abou Jamra, Rami; Aref-Eshghi, Erfan; Zhao, Wenjing; Zou, Yongyi; Hu, Zhengmao; Pan, Qian; Li, Faxiang; Chen, Guodong; Li, Jiada; Hu, Zhangxue; Xia, Kun; Tan, Jieqiong; Guo, Hui
2025-11-171OAAIPeng, Xiaoxia; Jia, Xiangbin; Wang, Hanying; Chen, Jingjing; Zhang, Xiaolei; Tan, Senwei; Duan, Xinyu; Qiu, Can; Hu, Mengyuan; Hou, Haiyan; Parenti, Ilaria; Kuechler, Alma; Kaiser, Frank J.; Renck, Alicia; Caylor, Raymond; Skinner, Cindy; Peeden, Joseph; Cogne, Benjamin; Isidor, Bertrand; Mercier, Sandra; Nicolas, Gael; Guerrot, Anne-Marie; Faletra, Flavio; Musante, Luciana; Cohen, Lior; Bergant, Gaber; Cuturilo, Goran; Peterlin, Borut; Seeley, Andrea; Bachman, Kristine; Martinez-Agosto, Julian A.; Van Ravenswaaij-Arts, Conny; Bos, Dennis; Kim, Katherine H.; Bartolomaeus, Tobias; Schmederer, Zelia; Abou Jamra, Rami; Aref-Eshghi, Erfan; Zhao, Wenjing; Zou, Yongyi; Hu, Zhengmao; Pan, Qian; Li, Faxiang; Chen, Guodong; Li, Jiada; Hu, Zhangxue; Xia, Kun; Tan, Jieqiong; Guo, Hui分享收藏RRP12 Variants Are Associated With Autosomal Recessive Brain CalcificationsRRP12 变体与常染色体隐性脑钙化相关Movement Disorders2025-10-080OAAIEdoardo Monfrini MD, PhD; Paola Rinchetti PhD; Mathieu Anheim MD, PhD; Anna Klingseisen PhD; Ouhaid Lagha-Boukbiza MD; Zhidong Cen MD, PhD; Dehao Yang MD, PhD; Xinhui Chen MD; Reza Maroofian PhD; Henry Houlden MD, PhD, FRCP, FRCPath, FMedSci; Gioia Cappelletti PhD; Anne-Claire Richard BS; Olivier Quenez PhD; Camilo Toro MD; Steven J. Frucht MD; Francesco Lotti PhD; Wei Luo MD, PhD; David Hunt MD, PhD; Gael Nicolas MD, PhD; Giulietta M. Riboldi MD, PhD
Movement DisordersIF7.6
2025-10-080OAAIEdoardo Monfrini MD, PhD; Paola Rinchetti PhD; Mathieu Anheim MD, PhD; Anna Klingseisen PhD; Ouhaid Lagha-Boukbiza MD; Zhidong Cen MD, PhD; Dehao Yang MD, PhD; Xinhui Chen MD; Reza Maroofian PhD; Henry Houlden MD, PhD, FRCP, FRCPath, FMedSci; Gioia Cappelletti PhD; Anne-Claire Richard BS; Olivier Quenez PhD; Camilo Toro MD; Steven J. Frucht MD; Francesco Lotti PhD; Wei Luo MD, PhD; David Hunt MD, PhD; Gael Nicolas MD, PhD; Giulietta M. Riboldi MD, PhD分享收藏Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study基因组测序在法国医疗保健体系中对智力障碍的诊断应用：作为罕见病研究范式的DEFIDIAG前瞻性研究Genome Medicine2025-10-040OAAISalima El Chehadeh; Solveig Heide; Chloé Quélin; Marlène Rio; Henri Margot; David Geneviève; Bertrand Isidor; Alice Goldenberg; Caroline Guégan; Gaëtan Lesca; Marjolaine Willems; Clothilde Ormières; Roseline Caumes; Tiffany Busa; Dominique Bonneau; Anne-Marie Guerrot; Isabelle Marey; Gabriella Vera; Pauline Marzin; Anaïs Philippe; Aurore Garde; Christine Coubes; Marie Vincent; Vincent Michaud; Cyril Mignot; Perrine Charles; Sabine Sigaudy; Patrick Edery; Didier Lacombe; Anne Boland; Frédérique Nowak; Marion Bouctot; Marie-Laure Humbert-Asensio; Alban Simon; Kirsley Chennen; Niki Sabour; Christelle Delmas; Gaël Nicolas; Pascale Saugier-Veber; François Lecoquierre; Kévin Cassinari; Boris Keren; Thomas Courtin; Jean-Madeleine De Sainte Agathe; Valérie Malan; Giulia Barcia; Frédéric Tran Mau-Them; Hana Safraou; Christophe Philippe; Julien Thévenon; Nicolas Chatron; Louis Januel; Amélie Piton; Virginie Haushalter; Bénédicte Gérard; Catherine Lejeune; Laurence Faivre; Damien Sanlaville; Delphine Héron; Sylvie Odent; Patrick Nitschké; Caroline Schluth-Bolard; Stanislas Lyonnet; Jean-François Deleuze; Christine Binquet; Hélène Dollfus
Genome MedicineIF11.2
2025-10-040OAAISalima El Chehadeh; Solveig Heide; Chloé Quélin; Marlène Rio; Henri Margot; David Geneviève; Bertrand Isidor; Alice Goldenberg; Caroline Guégan; Gaëtan Lesca; Marjolaine Willems; Clothilde Ormières; Roseline Caumes; Tiffany Busa; Dominique Bonneau; Anne-Marie Guerrot; Isabelle Marey; Gabriella Vera; Pauline Marzin; Anaïs Philippe; Aurore Garde; Christine Coubes; Marie Vincent; Vincent Michaud; Cyril Mignot; Perrine Charles; Sabine Sigaudy; Patrick Edery; Didier Lacombe; Anne Boland; Frédérique Nowak; Marion Bouctot; Marie-Laure Humbert-Asensio; Alban Simon; Kirsley Chennen; Niki Sabour; Christelle Delmas; Gaël Nicolas; Pascale Saugier-Veber; François Lecoquierre; Kévin Cassinari; Boris Keren; Thomas Courtin; Jean-Madeleine De Sainte Agathe; Valérie Malan; Giulia Barcia; Frédéric Tran Mau-Them; Hana Safraou; Christophe Philippe; Julien Thévenon; Nicolas Chatron; Louis Januel; Amélie Piton; Virginie Haushalter; Bénédicte Gérard; Catherine Lejeune; Laurence Faivre; Damien Sanlaville; Delphine Héron; Sylvie Odent; Patrick Nitschké; Caroline Schluth-Bolard; Stanislas Lyonnet; Jean-François Deleuze; Christine Binquet; Hélène Dollfus分享收藏Machine learning in Alzheimer’s disease genetics阿尔茨海默病遗传学中的机器学习Nature Communications2025-07-220OAAIMatthew Bracher-Smith; Federico Melograna; Brittany Ulm; Céline Bellenguez; Benjamin Grenier-Boley; Diane Duroux; Alejo J. Nevado; Peter Holmans; Betty M. Tijms; Marc Hulsman; Itziar de Rojas; Rafael Campos-Martin; Sven van der Lee; Atahualpa Castillo; Fahri Küçükali; Oliver Peters; Anja Schneider; Martin Dichgans; Dan Rujescu; Norbert Scherbaum; Jürgen Deckert; Steffi Riedel-Heller; Lucrezia Hausner; Laura Molina-Porcel; Emrah Düzel; Timo Grimmer; Jens Wiltfang; Stefanie Heilmann-Heimbach; Susanne Moebus; Thomas Tegos; Nikolaos Scarmeas; Oriol Dols-Icardo; Fermin Moreno; Jordi Pérez-Tur; María J. Bullido; Pau Pastor; Raquel Sánchez-Valle; Victoria Álvarez; Mercè Boada; Pablo García-González; Raquel Puerta; Pablo Mir; Luis M. Real; Gerard Piñol-Ripoll; Jose María García-Alberca; Eloy Rodriguez-Rodriguez; Hilkka Soininen; Sami Heikkinen; Alexandre de Mendonça; Shima Mehrabian; Latchezar Traykov; Jakub Hort; Martin Vyhnalek; Nicolai Sandau; Jesper Qvist Thomassen; Yolande A. L. Pijnenburg; Henne Holstege; John van Swieten; Inez Ramakers; Frans Verhey; Philip Scheltens; Caroline Graff; Goran Papenberg; Vilmantas Giedraitis; Julie Williams; Philippe Amouyel; Anne Boland; Jean-François Deleuze; Gael Nicolas; Carole Dufouil; Florence Pasquier; Olivier Hanon; Stéphanie Debette; Edna Grünblatt; Julius Popp; Roberta Ghidoni; Daniela Galimberti; Beatrice Arosio; Patrizia Mecocci; Vincenzo Solfrizzi; Lucilla Parnetti; Alessio Squassina; Lucio Tremolizzo; Barbara Borroni; Michael Wagner; Benedetta Nacmias; Marco Spallazzi; Davide Seripa; Innocenzo Rainero; Antonio Daniele; Fabrizio Piras; Carlo Masullo; Giacomina Rossi; Frank Jessen; Patrick Kehoe; Tsolaki Magda; Pascual Sánchez-Juan; Kristel Sleegers; Martin Ingelsson; Mikko Hiltunen; Rebecca Sims; Wiesje van der Flier; Ole A. Andreassen; Agustín Ruiz; Alfredo Ramirez; Ruth Frikke-Schmidt; Najaf Amin; Gennady Roshchupkin; Jean-Charles Lambert; Kristel Van Steen; Cornelia van Duijn; Valentina Escott-Price
Nature CommunicationsIF15.7
2025-07-220OAAIMatthew Bracher-Smith; Federico Melograna; Brittany Ulm; Céline Bellenguez; Benjamin Grenier-Boley; Diane Duroux; Alejo J. Nevado; Peter Holmans; Betty M. Tijms; Marc Hulsman; Itziar de Rojas; Rafael Campos-Martin; Sven van der Lee; Atahualpa Castillo; Fahri Küçükali; Oliver Peters; Anja Schneider; Martin Dichgans; Dan Rujescu; Norbert Scherbaum; Jürgen Deckert; Steffi Riedel-Heller; Lucrezia Hausner; Laura Molina-Porcel; Emrah Düzel; Timo Grimmer; Jens Wiltfang; Stefanie Heilmann-Heimbach; Susanne Moebus; Thomas Tegos; Nikolaos Scarmeas; Oriol Dols-Icardo; Fermin Moreno; Jordi Pérez-Tur; María J. Bullido; Pau Pastor; Raquel Sánchez-Valle; Victoria Álvarez; Mercè Boada; Pablo García-González; Raquel Puerta; Pablo Mir; Luis M. Real; Gerard Piñol-Ripoll; Jose María García-Alberca; Eloy Rodriguez-Rodriguez; Hilkka Soininen; Sami Heikkinen; Alexandre de Mendonça; Shima Mehrabian; Latchezar Traykov; Jakub Hort; Martin Vyhnalek; Nicolai Sandau; Jesper Qvist Thomassen; Yolande A. L. Pijnenburg; Henne Holstege; John van Swieten; Inez Ramakers; Frans Verhey; Philip Scheltens; Caroline Graff; Goran Papenberg; Vilmantas Giedraitis; Julie Williams; Philippe Amouyel; Anne Boland; Jean-François Deleuze; Gael Nicolas; Carole Dufouil; Florence Pasquier; Olivier Hanon; Stéphanie Debette; Edna Grünblatt; Julius Popp; Roberta Ghidoni; Daniela Galimberti; Beatrice Arosio; Patrizia Mecocci; Vincenzo Solfrizzi; Lucilla Parnetti; Alessio Squassina; Lucio Tremolizzo; Barbara Borroni; Michael Wagner; Benedetta Nacmias; Marco Spallazzi; Davide Seripa; Innocenzo Rainero; Antonio Daniele; Fabrizio Piras; Carlo Masullo; Giacomina Rossi; Frank Jessen; Patrick Kehoe; Tsolaki Magda; Pascual Sánchez-Juan; Kristel Sleegers; Martin Ingelsson; Mikko Hiltunen; Rebecca Sims; Wiesje van der Flier; Ole A. Andreassen; Agustín Ruiz; Alfredo Ramirez; Ruth Frikke-Schmidt; Najaf Amin; Gennady Roshchupkin; Jean-Charles Lambert; Kristel Van Steen; Cornelia van Duijn; Valentina Escott-Price分享收藏Transferability of European-derived Alzheimer’s disease polygenic risk scores across multiancestry populations欧洲来源的阿尔茨海默病多基因风险评分在多祖先人群中的可转移性2025-06-180OAAIAude Nicolas; Richard Sherva; Benjamin Grenier-Boley; Yoontae Kim; Masataka Kikuchi; Jigyasha Timsina; Itziar de Rojas; María Carolina Dalmasso; Xiaopu Zhou; Yann Le Guen; Carlos E. Arboleda-Bustos; Maria Aparecida Camargos Bicalho; Maëlenn Guerchet; Sven van der Lee; Monica Goss; Atahualpa Castillo; Céline Bellenguez; Fahri Küçükali; Claudia L. Satizabal; Bernard Fongang; Qiong Yang; Oliver Peters; Anja Schneider; Martin Dichgans; Dan Rujescu; Norbert Scherbaum; Jürgen Deckert; Steffi Riedel-Heller; Lucrezia Hausner; Laura Molina-Porcel; Emrah Düzel; Timo Grimmer; Jens Wiltfang; Stefanie Heilmann-Heimbach; Susanne Moebus; Thomas Tegos; Nikolaos Scarmeas; Oriol Dols-Icardo; Fermin Moreno; Jordi Pérez-Tur; María J. Bullido; Pau Pastor; Raquel Sánchez-Valle; Victoria Álvarez; Han Cao; Nancy Y. Ip; Amy K. Y. Fu; Fanny C. F. Ip; Natividad Olivar; Carolina Muchnik; Carolina Cuesta; Lorenzo Campanelli; Patricia Solis; Daniel Gustavo Politis; Silvia Kochen; Luis Ignacio Brusco; Mercè Boada; Pablo García-González; Raquel Puerta; Pablo Mir; Luis M. Real; Gerard Piñol-Ripoll; Jose María García-Alberca; Jose Luís Royo; Eloy Rodriguez-Rodriguez; Hilkka Soininen; Sami Heikkinen; Alexandre de Mendonça; Shima Mehrabian; Latchezar Traykov; Jakub Hort; Martin Vyhnalek; Katrine Laura Rasmussen; Jesper Qvist Thomassen; Yolande A. L. Pijnenburg; Henne Holstege; John C. van Swieten; Harro Seelaar; Jurgen A. H. R. Claassen; Willemijn J. Jansen; Inez Ramakers; Frans Verhey; Aad van der Lugt; Philip Scheltens; Jenny Ortega-Rojas; Ana Gabriela Concha Mera; Maria F. Mahecha; Rodrigo Pardo; Gonzalo Arboleda; Shahram Bahrami; Vera Fominykh; Geir Selbæk; Caroline Graff; Goran Papenberg; Vilmantas Giedraitis; Anne Boland; Jean-François Deleuze; Luiz Armando de Marco; Edgar Nunes de Moraes; Bernardo de Mattos Viana; Marco Túlio Gualberto Cintra; Teresa Juarez-Cedillo; Anthony J. Griswold; Tatiana Forund; Jonathan Haines; Lindsay Farrer; Anita DeStefano; Ellen Wijsman; Richard Mayeux; Margaret Pericak-Vance; Brian Kunkle; Alison Goate; Gerard D. Schellenberg; Badri Vardarajan; Li-San Wang; Yuk Yee Leung; Clifton L. Dalgard; Gael Nicolas; David Wallon; Carole Dufouil; Florence Pasquier; Olivier Hanon; Stéphanie Debette; Edna Grünblatt; Julius Popp; Bárbara Angel; Sergio Gloger; Maria Victoria Chacon; Rafael Aranguiz; Paulina Orellana; Andrea Slachevsky; Christian Gonzalez-Billault; Cecilia Albala; Patricio Fuentes; Perminder Sachdev; Karen A. Mather; Richard L. Hauger; Victoria Merritt; Matthew Panizzon; Rui Zhang; J. Michael Gaziano; Roberta Ghidoni; Daniela Galimberti; Beatrice Arosio; Patrizia Mecocci; Vincenzo Solfrizzi; Lucilla Parnetti; Alessio Squassina; Lucio Tremolizzo; Barbara Borroni; Benedetta Nacmias; Paolo Caffarra; Davide Seripa; Innocenzo Rainero; Antonio Daniele; Fabrizio Piras; Hampton L. Leonard; Jenifer S. Yokoyama; Mike A. Nalls; Akinori Miyashita; Norikazu Hara; Kouichi Ozaki; Shumpei Niida; Julie Williams; Carlo Masullo; Philippe Amouyel; Pierre-Marie Preux; Pascal Mbelesso; Bébène Bandzouzi; Andy Saykin; Frank Jessen; Patrick G. Kehoe; Cornelia Van Duijn; Nesrine Ben Salem; Ruth Frikke-Schmidt; Lotfi Cherni; Michael D. Greicius; Magda Tsolaki; Pascual Sánchez-Juan; Marco Aurélio Romano Silva; Tenielle Porter; Simon M. Laws; Kristel Sleegers; Martin Ingelsson; Jean-François Dartigues; Sudha Seshadri; Giacomina Rossi; Laura Morelli; Mikko Hiltunen; Rebecca Sims; Wiesje van der Flier; Ole A. Andreassen; Humberto Arboleda; Carlos Cruchaga; Valentina Escott-Price; Agustín Ruiz; Kun Ho Lee; Takeshi Ikeuchi; Alfredo Ramirez; Jungsoo Gim; Mark Logue; Jean-Charles Lambert
2025-06-180OAAIAude Nicolas; Richard Sherva; Benjamin Grenier-Boley; Yoontae Kim; Masataka Kikuchi; Jigyasha Timsina; Itziar de Rojas; María Carolina Dalmasso; Xiaopu Zhou; Yann Le Guen; Carlos E. Arboleda-Bustos; Maria Aparecida Camargos Bicalho; Maëlenn Guerchet; Sven van der Lee; Monica Goss; Atahualpa Castillo; Céline Bellenguez; Fahri Küçükali; Claudia L. Satizabal; Bernard Fongang; Qiong Yang; Oliver Peters; Anja Schneider; Martin Dichgans; Dan Rujescu; Norbert Scherbaum; Jürgen Deckert; Steffi Riedel-Heller; Lucrezia Hausner; Laura Molina-Porcel; Emrah Düzel; Timo Grimmer; Jens Wiltfang; Stefanie Heilmann-Heimbach; Susanne Moebus; Thomas Tegos; Nikolaos Scarmeas; Oriol Dols-Icardo; Fermin Moreno; Jordi Pérez-Tur; María J. Bullido; Pau Pastor; Raquel Sánchez-Valle; Victoria Álvarez; Han Cao; Nancy Y. Ip; Amy K. Y. Fu; Fanny C. F. Ip; Natividad Olivar; Carolina Muchnik; Carolina Cuesta; Lorenzo Campanelli; Patricia Solis; Daniel Gustavo Politis; Silvia Kochen; Luis Ignacio Brusco; Mercè Boada; Pablo García-González; Raquel Puerta; Pablo Mir; Luis M. Real; Gerard Piñol-Ripoll; Jose María García-Alberca; Jose Luís Royo; Eloy Rodriguez-Rodriguez; Hilkka Soininen; Sami Heikkinen; Alexandre de Mendonça; Shima Mehrabian; Latchezar Traykov; Jakub Hort; Martin Vyhnalek; Katrine Laura Rasmussen; Jesper Qvist Thomassen; Yolande A. L. Pijnenburg; Henne Holstege; John C. van Swieten; Harro Seelaar; Jurgen A. H. R. Claassen; Willemijn J. Jansen; Inez Ramakers; Frans Verhey; Aad van der Lugt; Philip Scheltens; Jenny Ortega-Rojas; Ana Gabriela Concha Mera; Maria F. Mahecha; Rodrigo Pardo; Gonzalo Arboleda; Shahram Bahrami; Vera Fominykh; Geir Selbæk; Caroline Graff; Goran Papenberg; Vilmantas Giedraitis; Anne Boland; Jean-François Deleuze; Luiz Armando de Marco; Edgar Nunes de Moraes; Bernardo de Mattos Viana; Marco Túlio Gualberto Cintra; Teresa Juarez-Cedillo; Anthony J. Griswold; Tatiana Forund; Jonathan Haines; Lindsay Farrer; Anita DeStefano; Ellen Wijsman; Richard Mayeux; Margaret Pericak-Vance; Brian Kunkle; Alison Goate; Gerard D. Schellenberg; Badri Vardarajan; Li-San Wang; Yuk Yee Leung; Clifton L. Dalgard; Gael Nicolas; David Wallon; Carole Dufouil; Florence Pasquier; Olivier Hanon; Stéphanie Debette; Edna Grünblatt; Julius Popp; Bárbara Angel; Sergio Gloger; Maria Victoria Chacon; Rafael Aranguiz; Paulina Orellana; Andrea Slachevsky; Christian Gonzalez-Billault; Cecilia Albala; Patricio Fuentes; Perminder Sachdev; Karen A. Mather; Richard L. Hauger; Victoria Merritt; Matthew Panizzon; Rui Zhang; J. Michael Gaziano; Roberta Ghidoni; Daniela Galimberti; Beatrice Arosio; Patrizia Mecocci; Vincenzo Solfrizzi; Lucilla Parnetti; Alessio Squassina; Lucio Tremolizzo; Barbara Borroni; Benedetta Nacmias; Paolo Caffarra; Davide Seripa; Innocenzo Rainero; Antonio Daniele; Fabrizio Piras; Hampton L. Leonard; Jenifer S. Yokoyama; Mike A. Nalls; Akinori Miyashita; Norikazu Hara; Kouichi Ozaki; Shumpei Niida; Julie Williams; Carlo Masullo; Philippe Amouyel; Pierre-Marie Preux; Pascal Mbelesso; Bébène Bandzouzi; Andy Saykin; Frank Jessen; Patrick G. Kehoe; Cornelia Van Duijn; Nesrine Ben Salem; Ruth Frikke-Schmidt; Lotfi Cherni; Michael D. Greicius; Magda Tsolaki; Pascual Sánchez-Juan; Marco Aurélio Romano Silva; Tenielle Porter; Simon M. Laws; Kristel Sleegers; Martin Ingelsson; Jean-François Dartigues; Sudha Seshadri; Giacomina Rossi; Laura Morelli; Mikko Hiltunen; Rebecca Sims; Wiesje van der Flier; Ole A. Andreassen; Humberto Arboleda; Carlos Cruchaga; Valentina Escott-Price; Agustín Ruiz; Kun Ho Lee; Takeshi Ikeuchi; Alfredo Ramirez; Jungsoo Gim; Mark Logue; Jean-Charles Lambert分享收藏Soluble SorLA in CSF, a novel biomarker to explore disrupted trafficking of SorLA protein in Alzheimer disease脑脊液中的可溶性SorLA，一种探索阿尔茨海默病中SorLA蛋白转运障碍的新型生物标志物2025-05-070OAAICastelot, R; Zarea, A; Wallon, D; Rovelet-Lecrux, A; Schramm, C; Quillard-Muraine, M; Beaume, A; Blanc, F; Bousiges, O; Dumurgier, J; Formaglio, M; Leguyader, G; Lehmann, S; Marelli, C; Martinet, M; Nogueira, L; Pariente, J; Quadrio, I; Rollin-Sillaire, A; Schraen, S; Nicolas, G; Lecourtois, M
2025-05-070OAAICastelot, R; Zarea, A; Wallon, D; Rovelet-Lecrux, A; Schramm, C; Quillard-Muraine, M; Beaume, A; Blanc, F; Bousiges, O; Dumurgier, J; Formaglio, M; Leguyader, G; Lehmann, S; Marelli, C; Martinet, M; Nogueira, L; Pariente, J; Quadrio, I; Rollin-Sillaire, A; Schraen, S; Nicolas, G; Lecourtois, M分享收藏Assessment of the transcriptomic consequences and MAU2 protein levels in edited induced pluripotent stem cells with NIPBL pathogenic variants评估携带NIPBL致病性变异的编辑型诱导多能干细胞中转录组学后果及MAU2蛋白水平GENES & DISEASES2025-05-010OAAICassinari, Kevin; Rovelet-Lecrux, Anne; Derambure, Celine; Vezain, Myriam; Coutant, Sophie; Richard, Anne-Claire; Drouot, Nathalie; Coursimault, Juliette; Vera, Gabriella; Goldenberg, Alice; Saugier-Veber, Pascale; Charbonnier, Camille; Nicolas, Gael
GENES & DISEASESIF9.4
2025-05-010OAAICassinari, Kevin; Rovelet-Lecrux, Anne; Derambure, Celine; Vezain, Myriam; Coutant, Sophie; Richard, Anne-Claire; Drouot, Nathalie; Coursimault, Juliette; Vera, Gabriella; Goldenberg, Alice; Saugier-Veber, Pascale; Charbonnier, Camille; Nicolas, Gael分享收藏Parental germline mosaicism in genome-wide phased de novo variants: Recurrence risk assessment and implications for precision genetic counselling基因组范围分阶段新发变异中的亲本生殖细胞嵌合现象：复发风险评估及对精准遗传咨询的启示PLOS GENETICS2025-03-310OAAILecoquierre, Francois; Drouot, Nathalie; Coutant, Sophie; Quenez, Olivier; Fourneaux, Steeve; Jumeau, Fanny; Rives, Nathalie; Charbonnier, Francoise; Derambure, Celine; Boland, Anne; Olaso, Robert; Meyer, Vincent; Deleuze, Jean-Francois; Goldenberg, Alice; Guerrot, Anne-Marie; Charbonnier, Camille; Nicolas, Gael
PLOS GENETICSIF3.7
2025-03-310OAAILecoquierre, Francois; Drouot, Nathalie; Coutant, Sophie; Quenez, Olivier; Fourneaux, Steeve; Jumeau, Fanny; Rives, Nathalie; Charbonnier, Francoise; Derambure, Celine; Boland, Anne; Olaso, Robert; Meyer, Vincent; Deleuze, Jean-Francois; Goldenberg, Alice; Guerrot, Anne-Marie; Charbonnier, Camille; Nicolas, Gael分享收藏Amyloid-β peptide signature associated with cerebral amyloid angiopathy in familial Alzheimer's disease with APPdup and Down syndrome伴有APPdup和唐氏综合症的家族性阿尔茨海默氏病中与脑淀粉样血管病相关的淀粉样 β 肽特征2024-07-180OAAIKasri, Amal; Camporesi, Elena; Gkanatsiou, Eleni; Boluda, Susana; Brinkmalm, Gunnar; Stimmer, Lev; Ge, Junyue; Hanrieder, Jorg; Villain, Nicolas; Duyckaerts, Charles; Vermeiren, Yannick; Pape, Sarah E.; Nicolas, Gael; Laquerriere, Annie; De Deyn, Peter Paul; Wallon, David; Blennow, Kaj; Strydom, Andre; Zetterberg, Henrik; Potier, Marie-Claude
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HUMAN GENETICSIF3.6
2024-05-243OAAIVos, Niels; Haghshenas, Sadegheh; van der Laan, Liselot; Russel, Perle K. M.; Rooney, Kathleen; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Maas, Saskia M.; Vissers, Lisenka E. L. M.; de Vries, Bert B. A.; Pfundt, Rolph; Elting, Mariet W.; van Hagen, Johanna M.; Verbeek, Nienke E.; Jongmans, Marjolijn C. J.; Lakeman, Phillis; Rumping, Lynne; Bosch, Danielle G. M.; Vitobello, Antonio; Thauvin-Robinet, Christel; Faivre, Laurence; Nambot, Sophie; Garde, Aurore; Willems, Marjolaine; Genevieve, David; Nicolas, Gael; Busa, Tiffany; Toutain, Annick; Gerard, Marion; Bizaoui, Varoona; Isidor, Bertrand; Merla, Giuseppe; Accadia, Maria; Schwartz, Charles E.; Ounap, Katrin; Hoffer, Mariette J. V.; Nezarati, Marjan M.; van den Boogaard, Marie-Jose H.; Tedder, Matthew L.; Rogers, Curtis; Brusco, Alfredo; Ferrero, Giovanni B.; Spodenkiewicz, Marta; Sidlow, Richard; Mussa, Alessandro; Trajkova, Slavica; McCann, Emma; Mroczkowski, Henry J.; Jansen, Sandra; Donker-Kaat, Laura; Duijkers, Floor A. M.; Stuurman, Kyra E.; Mannens, Marcel M. A. M.; Alders, Marielle; Henneman, Peter; White, Susan M.; Sadikovic, Bekim; van Haelst, Mieke M.分享收藏Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening阿尔茨海默病的孟德尔和危险因素基因评估: 一项前瞻性全国临床效用研究和遗传筛查建议GENETICS IN MEDICINE2024-05-013OAAINicolas, Gael; Zarea, Aline; Lacour, Morgane; Quenez, Olivier; Rousseau, Stephane; Richard, Anne-Claire; Bonnevalle, Antoine; Schramm, Catherine; Olaso, Robert; Sandron, Florian; Boland, Anne; Deleuze, Jean-Francois; Andriuta, Daniela; Anthony, Pierre; Auriacombe, Sophie; Balageas, Anna-Chloe; Ballan, Guillaume; Barbay, Melanie; Beiot, Yannick; Belliard, Serge; Benaiteau, Marie; Bennys, Karim; Bombois, Stephanie; Boutoleau-Bretonniere, Claire; Branger, Pierre; Carlier, Jasmine; Cartz-Piver, Leslie; Cassagnaud, Pascaline; Ceccaldi, Mathieu-Pierre; Chauvire, Valerie; Chen, Yaohua; Cogez, Julien; Cognat, Emmanuel; Contegal-Callier, Fabienne; Corneille, Lea; Couratier, Philippe; Cretin, Benjamin; Crinquette, Charlotte; Dauriat, Benjamin; Dautricourt, Sophie; de la Sayette, Vincent; de Liege, Astrid; Deffond, Didier; Demurger, Florence; Deramecourt, Vincent; Derollez, Celine; Dionet, Elsa; Fenzy, Martine Doco; Dumurgier, Julien; Dutray, Anais; Etcharry-Bouyx, Frederique; Formaglio, Maite; Gabelle, Audrey; Gainche-Salmon, Anne; Godefroy, Olivier; Graber, Mathilde; Gregoire, Chloe; Grimaldi, Stephan; Gueniat, Julien; Gueriot, Claude; Guillet-Pichon, Virginie; Haffen, Sophie; Hanta, Cezara-Roxana; Hardy, Clemence; Hautecloque, Geoffroy; Heitz, Camille; Hourregue, Claire; Jonveaux, Therese; Jurici, Snejana; Koric, Lejla; Krolak-Salmon, Pierre; Lagarde, Julien; Lanoiselee, Helene-Marie; Laurens, Brice; Le Ber, Isabelle; Le Guyader, Gwenael; Leblanc, Amelie; Lebouvier, Thibaud; Levy, Richard; Lippi, Anais; Mackowiak, Marie-Anne; Magnin, Eloi; Marelli, Cecilia; Martinaud, Olivier; Maureille, Aurelien; Migliaccio, Raffaella; Milongo-Rigal, Emilie; Mohr, Sophie; Mollion, Helene; Morin, Alexandre; Nivelle, Julia; Noiray, Camille; Olivieri, Pauline; Paquet, Claire; Pariente, Jeremie; Pasquier, Florence; Perron, Alexandre; Philippi, Nathalie; Planche, Vincent; Pouclet-Courtemanche, Helene; Rafiq, Marie; Rollin-Sillaire, Adeline; Roue-Jagot, Carole; Saracino, Dario; Sarazin, Marie; Sauvee, Mathilde; Sellal, Francois; Teichmann, Marc; Thauvin, Christel; Thomas, Quentin; Tisserand, Camille; Turpinat, Cedric; Van Damme, Laurene; Vercruysse, Olivier; Villain, Nicolas; Wagemann, Nathalie; Charbonnier, Camille; Wallon, David
GENETICS IN MEDICINEIF6.2
2024-05-013OAAINicolas, Gael; Zarea, Aline; Lacour, Morgane; Quenez, Olivier; Rousseau, Stephane; Richard, Anne-Claire; Bonnevalle, Antoine; Schramm, Catherine; Olaso, Robert; Sandron, Florian; Boland, Anne; Deleuze, Jean-Francois; Andriuta, Daniela; Anthony, Pierre; Auriacombe, Sophie; Balageas, Anna-Chloe; Ballan, Guillaume; Barbay, Melanie; Beiot, Yannick; Belliard, Serge; Benaiteau, Marie; Bennys, Karim; Bombois, Stephanie; Boutoleau-Bretonniere, Claire; Branger, Pierre; Carlier, Jasmine; Cartz-Piver, Leslie; Cassagnaud, Pascaline; Ceccaldi, Mathieu-Pierre; Chauvire, Valerie; Chen, Yaohua; Cogez, Julien; Cognat, Emmanuel; Contegal-Callier, Fabienne; Corneille, Lea; Couratier, Philippe; Cretin, Benjamin; Crinquette, Charlotte; Dauriat, Benjamin; Dautricourt, Sophie; de la Sayette, Vincent; de Liege, Astrid; Deffond, Didier; Demurger, Florence; Deramecourt, Vincent; Derollez, Celine; Dionet, Elsa; Fenzy, Martine Doco; Dumurgier, Julien; Dutray, Anais; Etcharry-Bouyx, Frederique; Formaglio, Maite; Gabelle, Audrey; Gainche-Salmon, Anne; Godefroy, Olivier; Graber, Mathilde; Gregoire, Chloe; Grimaldi, Stephan; Gueniat, Julien; Gueriot, Claude; Guillet-Pichon, Virginie; Haffen, Sophie; Hanta, Cezara-Roxana; Hardy, Clemence; Hautecloque, Geoffroy; Heitz, Camille; Hourregue, Claire; Jonveaux, Therese; Jurici, Snejana; Koric, Lejla; Krolak-Salmon, Pierre; Lagarde, Julien; Lanoiselee, Helene-Marie; Laurens, Brice; Le Ber, Isabelle; Le Guyader, Gwenael; Leblanc, Amelie; Lebouvier, Thibaud; Levy, Richard; Lippi, Anais; Mackowiak, Marie-Anne; Magnin, Eloi; Marelli, Cecilia; Martinaud, Olivier; Maureille, Aurelien; Migliaccio, Raffaella; Milongo-Rigal, Emilie; Mohr, Sophie; Mollion, Helene; Morin, Alexandre; Nivelle, Julia; Noiray, Camille; Olivieri, Pauline; Paquet, Claire; Pariente, Jeremie; Pasquier, Florence; Perron, Alexandre; Philippi, Nathalie; Planche, Vincent; Pouclet-Courtemanche, Helene; Rafiq, Marie; Rollin-Sillaire, Adeline; Roue-Jagot, Carole; Saracino, Dario; Sarazin, Marie; Sauvee, Mathilde; Sellal, Francois; Teichmann, Marc; Thauvin, Christel; Thomas, Quentin; Tisserand, Camille; Turpinat, Cedric; Van Damme, Laurene; Vercruysse, Olivier; Villain, Nicolas; Wagemann, Nathalie; Charbonnier, Camille; Wallon, David分享收藏