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Chu Sainte-Justine And University of Montreal
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2026-08-14
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OAAI
Sayeh Kazem; Kuldeep Kumar; Jane Yang; Florian Benitiere; Guillaume Huguet; Josephine Mollon; Thomas Renne; Laura M. Schultz; Emma E. M. Knowles; Worrawat Engchuan; Omar Shanta; Bhooma Thiruvahindrapuram; Jeffrey R. MacDonald; Celia M. T. Greenwood; Stephen W. Scherer; Laura Almasy; Jonathan Sebat; David C. Glahn; Guillaume Dumas; Sébastien Jacquemont
Nature CommunicationsIF15.7
2026-08-140OAAISayeh Kazem; Kuldeep Kumar; Jane Yang; Florian Benitiere; Guillaume Huguet; Josephine Mollon; Thomas Renne; Laura M. Schultz; Emma E. M. Knowles; Worrawat Engchuan; Omar Shanta; Bhooma Thiruvahindrapuram; Jeffrey R. MacDonald; Celia M. T. Greenwood; Stephen W. Scherer; Laura Almasy; Jonathan Sebat; David C. Glahn; Guillaume Dumas; Sébastien Jacquemont.png){kind=icon}
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SavePathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic functionNature Genetics2025-10-220
OAAIReza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa Lipstein
Nature GeneticsIF29
2025-10-220OAAIReza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa LipsteinShareSaveAuthor Correction: International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents2025-08-130Ruth T. Casey; Emile Hendriks; Cheri Deal; Steven G. Waguespack; Verena Wiegering; Antje Redlich; Scott Akker; Rathi Prasad; Martin Fassnacht; Roderick Clifton-Bligh; Laurence Amar; Stefan Bornstein; Letizia Canu; Evangelia Charmandari; Alexandra Chrisoulidou; Maria Currás Freixes; Ronald de Krijger; Luisa de Sanctis; Antonio Fojo; Amol J. Ghia; Angela Huebner; Vasilis Kosmoliaptsis; Michaela Kuhlen; Marco Raffaelli; Charlotte Lussey-Lepoutre; Stephen D. Marks; Naris Nilubol; Mirko Parasiliti-Caprino; Henri H.J.L.M. Timmers; Anna Lena Zietlow; Mercedes Robledo; Anne-Paule Gimenez-Roqueplo; Ashley B. Grossman; David Taïeb; Eamonn R. Maher; Jacques W. M. Lenders; Graeme Eisenhofer; Camilo Jimenez; Karel Pacak; Christina Pamporaki
2025-08-130PREAI
Ruth T. Casey; Emile Hendriks; Cheri Deal; Steven G. Waguespack; Verena Wiegering; Antje Redlich; Scott Akker; Rathi Prasad; Martin Fassnacht; Roderick Clifton-Bligh; Laurence Amar; Stefan Bornstein; Letizia Canu; Evangelia Charmandari; Alexandra Chrisoulidou; Maria Currás Freixes; Ronald de Krijger; Luisa de Sanctis; Antonio Fojo; Amol J. Ghia; Angela Huebner; Vasilis Kosmoliaptsis; Michaela Kuhlen; Marco Raffaelli; Charlotte Lussey-Lepoutre; Stephen D. Marks; Naris Nilubol; Mirko Parasiliti-Caprino; Henri H.J.L.M. Timmers; Anna Lena Zietlow; Mercedes Robledo; Anne-Paule Gimenez-Roqueplo; Ashley B. Grossman; David Taïeb; Eamonn R. Maher; Jacques W. M. Lenders; Graeme Eisenhofer; Camilo Jimenez; Karel Pacak; Christina PamporakiShareSave