.png){kind=icon}
.png){kind=icon}
Back
A
Antonio Vitobello
inserm umr1231
36H-index
224Paper Count
4.6KCitation Count
Published Papers 104
Publication Date
- Publication Date
- Impact Factor
- Citations
.png){kind=icon}
De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.png)
Nature Communications.png)
2026-07-01
0
OAAI
Aleš Hnízda; Beatriz Martinez-Delgado; Diana Sanchez-Ponce; Javier Alonso; Jeanne Amiel; Tania Attie-Bitach; Ariadna Bada-Navarro; Beatriz Baladron; Eva Bermejo-Sanchez; Vítězslav Brinsa; Ivana Buková; Rosario Cazorla-Calleja; Sylvie Červenková; Shanshan Chow; Petr Dušek; Olha Fedosieieva; Marta Fernandez-Prieto; Sourav Ghosh; Gema Gomez-Mariano; Andrea Gřegořová; Mark James Hamilton; Hana Hartmannová; Esther Hernandez-SanMiguel; Marina Herrero-Matesanz; Kateřina Hodaňová; Alan Kádek; Jennifer Kerkhof; Tjitske Kleefstra; Didier Lacombe; Michael A. Levy; Estrella Lopez-Martin; Ruaud Lyse; Petr Man; Purificacion Marin-Reina; Ellen F. Macnamara; Haley McConkey; Petra Melenovská; Lidia M. Mielu; David Moore; Lenka Steiner Mrázová; Karolína Musilová; Kristýna Neffeová; Petr Nickl; David Pajuelo Reguera; Martina Pavlíková; Lea Pavlovičová; Manuel Posada; Jan Procházka; Kateryna Pysanenko; Sheila Ramos del Saz; Dmitrijs Rots; Jessica Rzasa; Radislav Sedláček; Viktor Stránecký; František Špoutil; Matthew L. Tedder; Louise Thompson; Cynthia J. Tifft; Frederic Tran Mau-Them; Helena Trešlová; Antonio Vitobello; Sarah Hilton; Christopher Campbell; Siddharth Banka; Daniel Jirák; Bekim Sadikovic; Jakub Sikora; Stanislav Kmoch; Maria J. Barrero; Lenka Nosková
Nature CommunicationsIF15.7
2026-07-010OAAIAleš Hnízda; Beatriz Martinez-Delgado; Diana Sanchez-Ponce; Javier Alonso; Jeanne Amiel; Tania Attie-Bitach; Ariadna Bada-Navarro; Beatriz Baladron; Eva Bermejo-Sanchez; Vítězslav Brinsa; Ivana Buková; Rosario Cazorla-Calleja; Sylvie Červenková; Shanshan Chow; Petr Dušek; Olha Fedosieieva; Marta Fernandez-Prieto; Sourav Ghosh; Gema Gomez-Mariano; Andrea Gřegořová; Mark James Hamilton; Hana Hartmannová; Esther Hernandez-SanMiguel; Marina Herrero-Matesanz; Kateřina Hodaňová; Alan Kádek; Jennifer Kerkhof; Tjitske Kleefstra; Didier Lacombe; Michael A. Levy; Estrella Lopez-Martin; Ruaud Lyse; Petr Man; Purificacion Marin-Reina; Ellen F. Macnamara; Haley McConkey; Petra Melenovská; Lidia M. Mielu; David Moore; Lenka Steiner Mrázová; Karolína Musilová; Kristýna Neffeová; Petr Nickl; David Pajuelo Reguera; Martina Pavlíková; Lea Pavlovičová; Manuel Posada; Jan Procházka; Kateryna Pysanenko; Sheila Ramos del Saz; Dmitrijs Rots; Jessica Rzasa; Radislav Sedláček; Viktor Stránecký; František Špoutil; Matthew L. Tedder; Louise Thompson; Cynthia J. Tifft; Frederic Tran Mau-Them; Helena Trešlová; Antonio Vitobello; Sarah Hilton; Christopher Campbell; Siddharth Banka; Daniel Jirák; Bekim Sadikovic; Jakub Sikora; Stanislav Kmoch; Maria J. Barrero; Lenka Nosková.png){kind=icon}
Share.png){kind=icon}
SaveDe novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disordersNature Communications2026-01-230
OAAIKevin Uguen; Tiffany Bergot; Marie-Pier Scott-Boyer; Solène Chapalain; Camille Desdouets; Séverine Commet; Changlian Zhu; Yiran Xu; Yangong Wang; Tony Roscioli; Frederic Tran-Mau-Them; Laurence Faivre; Julien Maraval; Julian Delanne; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Céline Jost; Marc Planes; Susan Hiatt; Patricia Wheeler; Claudia Gonzaga-Jauregui; Heng Wang; Baozhong Xin; Valerie Sency; Michael C. Kruer; Somayeh Bakhtiari; Patrick Sulem; Cynthia Curry; Trine Prescott; Gertrud Strobl-Wildemann; Theresa Brunet; Martine Doco Fenzy; Thomas Courtin; Céline Poirsier; Trine Bjørg Hammer; Christina D. Fenger; Melissa MacPherson; Kosuke Izumi; Jacqueline Leonard; Dong Li; Elaine H. Zackai; Ian A. Glass; Scott Ward; Philippe M. Campeau; Maria Carla Hermida Borroto; Laurence Le Moigno; Hilde Van Esch; Liesbeth De Waele; Daniel G. Calame; James R. Lupski; Giulia Barcia; Cristina Peduto; Pauline Planté-Bordeneuve; Lucie Dupuis; Roberto Mendoza-Londono; Dimitri J. Stavropoulos; Jennifer Gillibert-Duplantier; Thomas Besnard; Laura Do Souto Ferreira; Benjamin Cogné; Stéphane Bézieau; Arnaud Droit; Laurent Corcos; Eric Lippert; Claude Férec; Sebastien Küry; Delphine G. Bernard
Nature CommunicationsIF15.7
2026-01-230OAAIKevin Uguen; Tiffany Bergot; Marie-Pier Scott-Boyer; Solène Chapalain; Camille Desdouets; Séverine Commet; Changlian Zhu; Yiran Xu; Yangong Wang; Tony Roscioli; Frederic Tran-Mau-Them; Laurence Faivre; Julien Maraval; Julian Delanne; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Céline Jost; Marc Planes; Susan Hiatt; Patricia Wheeler; Claudia Gonzaga-Jauregui; Heng Wang; Baozhong Xin; Valerie Sency; Michael C. Kruer; Somayeh Bakhtiari; Patrick Sulem; Cynthia Curry; Trine Prescott; Gertrud Strobl-Wildemann; Theresa Brunet; Martine Doco Fenzy; Thomas Courtin; Céline Poirsier; Trine Bjørg Hammer; Christina D. Fenger; Melissa MacPherson; Kosuke Izumi; Jacqueline Leonard; Dong Li; Elaine H. Zackai; Ian A. Glass; Scott Ward; Philippe M. Campeau; Maria Carla Hermida Borroto; Laurence Le Moigno; Hilde Van Esch; Liesbeth De Waele; Daniel G. Calame; James R. Lupski; Giulia Barcia; Cristina Peduto; Pauline Planté-Bordeneuve; Lucie Dupuis; Roberto Mendoza-Londono; Dimitri J. Stavropoulos; Jennifer Gillibert-Duplantier; Thomas Besnard; Laura Do Souto Ferreira; Benjamin Cogné; Stéphane Bézieau; Arnaud Droit; Laurent Corcos; Eric Lippert; Claude Férec; Sebastien Küry; Delphine G. BernardShareSaveAuthor Correction: The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare diseaseNature Genetics2026-01-060OAAIVicente A. Yépez; German Demidov; Kornelia Ellwanger; Steven Laurie; Rebeka Luknárová; Midhuna Immaculate Joseph Maran; Thomas Hentrich; Lydia Sagath; Bart van der Sanden; Galuh Astuti; Kornelia Neveling; Laura Batlle-Masó; Danique Beijer; Felix Brechtmann; Andrés Caballero-Oteyza; Marc Dabad; Anne-Sophie Denommé-Pichon; Cenna Doornbos; Zakaria Eddafir; Berta Estévez-Arias; Ozge Aksel Kilicarslan; Ingrid H. M. Kolen; Leon Kraß; Katja Lohmann; Shubhankar Londhe; Estrella López-Martín; Kars Maassen; William Macken; Beatriz Martínez-Delgado; Davide Mei; Christian Mertes; Raffaella Minardi; Heba Morsy; Juliane S. Mueller; Daniel Natera-de Benito; Isabelle Nelson; Machteld M. Oud; Ida Paramonov; Daniel Picó; Davide Piscia; Kiran Polavarapu; Emanuele Raineri; Marco Savarese; Noor Smal; Marloes Steehouwer; Wouter Steyaert; Morris A. Swertz; Mirja Thomsen; Ana Töpf; Liedewei Van de Vondel; Gerben van der Vries; Antonio Vitobello; Carlo Wilke; Birte Zurek; Peter-Bram t’ Hoen; Leslie Matalonga; Lisenka E. L. M. Vissers; Christian Gilissen; Julia Schulze-Hentrich; Sergi Beltran; Anna Esteve-Codina; Alexander Hoischen; Julien Gagneur; Holm Graessner
Nature GeneticsIF29
2026-01-060OAAIVicente A. Yépez; German Demidov; Kornelia Ellwanger; Steven Laurie; Rebeka Luknárová; Midhuna Immaculate Joseph Maran; Thomas Hentrich; Lydia Sagath; Bart van der Sanden; Galuh Astuti; Kornelia Neveling; Laura Batlle-Masó; Danique Beijer; Felix Brechtmann; Andrés Caballero-Oteyza; Marc Dabad; Anne-Sophie Denommé-Pichon; Cenna Doornbos; Zakaria Eddafir; Berta Estévez-Arias; Ozge Aksel Kilicarslan; Ingrid H. M. Kolen; Leon Kraß; Katja Lohmann; Shubhankar Londhe; Estrella López-Martín; Kars Maassen; William Macken; Beatriz Martínez-Delgado; Davide Mei; Christian Mertes; Raffaella Minardi; Heba Morsy; Juliane S. Mueller; Daniel Natera-de Benito; Isabelle Nelson; Machteld M. Oud; Ida Paramonov; Daniel Picó; Davide Piscia; Kiran Polavarapu; Emanuele Raineri; Marco Savarese; Noor Smal; Marloes Steehouwer; Wouter Steyaert; Morris A. Swertz; Mirja Thomsen; Ana Töpf; Liedewei Van de Vondel; Gerben van der Vries; Antonio Vitobello; Carlo Wilke; Birte Zurek; Peter-Bram t’ Hoen; Leslie Matalonga; Lisenka E. L. M. Vissers; Christian Gilissen; Julia Schulze-Hentrich; Sergi Beltran; Anna Esteve-Codina; Alexander Hoischen; Julien Gagneur; Holm GraessnerShareSaveInvestigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathiesNature Communications2025-11-260OAAISébastien Küry; Janelle E. Stanton; Geeske M. van Woerden; Amélie Bosc-Rosati; Tzung-Chien Hsieh; Lise Bray; Marielle Oloudé; Cory Rosenfelt; Marie Pier Scott-Boyer; Victoria Most; Tianyun Wang; Jonas J. Papendorf; Charlotte de Konink; Wallid Deb; Virginie Vignard; Maja Studencka-Turski; Thomas Besnard; Anna M. Hajdukowicz; Franziska G. Thiel; Sophie Wolfgramm; Laëtitia Florenceau; Silvestre Cuinat; Sylvain Marsac; Yann Verrès; Audrey Dangoumau; Léa Poirier; Ingrid M. Wentzensen; Annabelle Tuttle; Cara Forster; Johanna Striesow; Richard Golnik; Damara Ortiz; Laura Jenkins; Jill A. Rosenfeld; Alban Ziegler; Clara Houdayer; Dominique Bonneau; Erin Torti; Amber Begtrup; Kristin G. Monaghan; Sureni V. Mullegama; Catharina M. L. Nienke Volker-Touw; Koen L. I. van Gassen; Renske Oegema; Mirjam S. de Pagter; Katharina Steindl; Anita Rauch; Ivan Ivanovski; Kimberly McDonald; Emily Boothe; Andrew Dauber; Janice Baker; Noelle Andrea V. Fabie; Raphael A. Bernier; Tychele N. Turner; Siddharth Srivastava; Kira A. Dies; Lindsay C. Swanson; Carrie Costin; Alali Abdulrazak; Rebekah K. Jobling; John Pappas; Rachel Rabin; Dmitriy Niyazov; Anne Chun-Hui Tsai; Karen Kovak; David B. Beck; May Christine V. Malicdan; David R. Adams; Lynne Wolfe; Rebecca D. Ganetzky; Colleen C. Muraresku; Davit Babikyan; Zdeněk Sedláček; Miroslava Hančárová; Andrew T. Timberlake; Hind Al Saif; Berkley Nestler; Kayla King; MJ Hajianpour; Gregory Costain; D’Arcy Prendergast; Chumei Li; David Geneviève; Antonio Vitobello; Arthur Sorlin; Christophe Philippe; Tamar Harel; Ori Toker; Ataf Sabir; Derek Lim; Mark J. Hamilton; Lisa J. Bryson; Elaine Cleary; Sacha Weber; Trevor L. Hoffman; Anna M. Cueto-González; Eduardo F. Tizzano; David Gómez-Andrés; Marta Codina-Solà; Athina Ververi; Efterpi Pavlidou; Alexandros Lambropoulos; Kyriakos Garganis; Marlène Rio; Jonathan Levy; Sarah J. Langas; Anne M. McRae; Mathieu K. Lessard; Maria Daniela D’Agostino; Isabelle De Bie; Meret Wegler; Rami Abou Jamra; Susanne B. Kamphausen; Viktoria Bothe; Lorraine Potocki; Eric Olinger; Yves Sznajer; Elsa Wiame; Michelle L. Thompson; Molly C. Schroeder; Catherine Gooch; Raphael A. Smith; Arti Pandya; Larissa M. Busch; Uwe Völker; Elke Hammer; Kristian Wende; Benjamin Cogné; Bertrand Isidor; Jens Meiler; Clémentine Ripoll; Stéphanie Bigou; Frédéric Laumonnier; Peter W. Hildebrand; Evan E. Eichler; Kirsty McWalter; Peter M. Krawitz; Florence Roux-Dalvai; Ype Elgersma; Julien Marcoux; Marie-Pierre Bousquet; Arnaud Droit; Jeremie Poschmann; Andreas M. Grabrucker; Francois V. Bolduc; Stéphane Bézieau; Frédéric Ebstein; Elke Krüger
Nature CommunicationsIF15.7
2025-11-260OAAISébastien Küry; Janelle E. Stanton; Geeske M. van Woerden; Amélie Bosc-Rosati; Tzung-Chien Hsieh; Lise Bray; Marielle Oloudé; Cory Rosenfelt; Marie Pier Scott-Boyer; Victoria Most; Tianyun Wang; Jonas J. Papendorf; Charlotte de Konink; Wallid Deb; Virginie Vignard; Maja Studencka-Turski; Thomas Besnard; Anna M. Hajdukowicz; Franziska G. Thiel; Sophie Wolfgramm; Laëtitia Florenceau; Silvestre Cuinat; Sylvain Marsac; Yann Verrès; Audrey Dangoumau; Léa Poirier; Ingrid M. Wentzensen; Annabelle Tuttle; Cara Forster; Johanna Striesow; Richard Golnik; Damara Ortiz; Laura Jenkins; Jill A. Rosenfeld; Alban Ziegler; Clara Houdayer; Dominique Bonneau; Erin Torti; Amber Begtrup; Kristin G. Monaghan; Sureni V. Mullegama; Catharina M. L. Nienke Volker-Touw; Koen L. I. van Gassen; Renske Oegema; Mirjam S. de Pagter; Katharina Steindl; Anita Rauch; Ivan Ivanovski; Kimberly McDonald; Emily Boothe; Andrew Dauber; Janice Baker; Noelle Andrea V. Fabie; Raphael A. Bernier; Tychele N. Turner; Siddharth Srivastava; Kira A. Dies; Lindsay C. Swanson; Carrie Costin; Alali Abdulrazak; Rebekah K. Jobling; John Pappas; Rachel Rabin; Dmitriy Niyazov; Anne Chun-Hui Tsai; Karen Kovak; David B. Beck; May Christine V. Malicdan; David R. Adams; Lynne Wolfe; Rebecca D. Ganetzky; Colleen C. Muraresku; Davit Babikyan; Zdeněk Sedláček; Miroslava Hančárová; Andrew T. Timberlake; Hind Al Saif; Berkley Nestler; Kayla King; MJ Hajianpour; Gregory Costain; D’Arcy Prendergast; Chumei Li; David Geneviève; Antonio Vitobello; Arthur Sorlin; Christophe Philippe; Tamar Harel; Ori Toker; Ataf Sabir; Derek Lim; Mark J. Hamilton; Lisa J. Bryson; Elaine Cleary; Sacha Weber; Trevor L. Hoffman; Anna M. Cueto-González; Eduardo F. Tizzano; David Gómez-Andrés; Marta Codina-Solà; Athina Ververi; Efterpi Pavlidou; Alexandros Lambropoulos; Kyriakos Garganis; Marlène Rio; Jonathan Levy; Sarah J. Langas; Anne M. McRae; Mathieu K. Lessard; Maria Daniela D’Agostino; Isabelle De Bie; Meret Wegler; Rami Abou Jamra; Susanne B. Kamphausen; Viktoria Bothe; Lorraine Potocki; Eric Olinger; Yves Sznajer; Elsa Wiame; Michelle L. Thompson; Molly C. Schroeder; Catherine Gooch; Raphael A. Smith; Arti Pandya; Larissa M. Busch; Uwe Völker; Elke Hammer; Kristian Wende; Benjamin Cogné; Bertrand Isidor; Jens Meiler; Clémentine Ripoll; Stéphanie Bigou; Frédéric Laumonnier; Peter W. Hildebrand; Evan E. Eichler; Kirsty McWalter; Peter M. Krawitz; Florence Roux-Dalvai; Ype Elgersma; Julien Marcoux; Marie-Pierre Bousquet; Arnaud Droit; Jeremie Poschmann; Andreas M. Grabrucker; Francois V. Bolduc; Stéphane Bézieau; Frédéric Ebstein; Elke KrügerShareSaveIdentification of an episignature for the MEF2C-associated syndrome2025-11-250Ananília Silva; Sadegheh Haghshenas; Liselot van der Laan; Michael A. Levy; Raissa Relator; Haley McConkey; Jennifer Kerkhof; Steve A. Skinner; Laurence Faivre; James Lespinasse; Antonio Vitobello; Irene Valenzuela; Ingrid E. Scheffer; Sophie J. Russ-Hall; Kenneth A. Myers; Matthew L. Tedder; Bekim Sadikovic; Jessica A. Cooley Coleman
2025-11-250PREAI
Ananília Silva; Sadegheh Haghshenas; Liselot van der Laan; Michael A. Levy; Raissa Relator; Haley McConkey; Jennifer Kerkhof; Steve A. Skinner; Laurence Faivre; James Lespinasse; Antonio Vitobello; Irene Valenzuela; Ingrid E. Scheffer; Sophie J. Russ-Hall; Kenneth A. Myers; Matthew L. Tedder; Bekim Sadikovic; Jessica A. Cooley ColemanShareSavePast, present, and future of genomic technologies in cerebellar ataxiasJournal of Neurology2025-11-080OAAIMarie Lucain; Yannis Duffourd; Marlene Malbos; Antonio Vitobello; Christel Thauvin-Robinet; Quentin Thomas
Journal of NeurologyIF4.6
2025-11-080OAAIMarie Lucain; Yannis Duffourd; Marlene Malbos; Antonio Vitobello; Christel Thauvin-Robinet; Quentin ThomasShareSaveExome sequencing in severe non-syndromic specific learning and language disorders in a French cohortMolecular Autism2025-11-010OAAIEléonore Viora-Dupont; Julian Delanne; Aurore Garde; Sophie Nambot; Estelle Colin; Marie Bournez; Clémence Fauconnier-Fatus; Caroline Racine; Clément Simao De Souza; Céline Bernard; Agnès Maurer; Aurélie Espitalier; Christine Binquet; Marion Bouctot; Marie-Laure Humbert; Anne-Sophie Briffaut; Véronique Darmency; Patricia Plumet; Audrey Cotinaud-Ricou; Noémie Relin; Patrick Callier; Anne-Laure Mosca-Boidron; Nathalie Marle; Frederic Tran Mau-Them; Anne-Sophie Denommé-Pichon; Hana Safraou; Antonio Vitobello; Christophe Philippe; Yannis Duffourd; Ange-Line Bruel; Christel Thauvin-Robinet; Laurence Faivre
Molecular AutismIF5.5
2025-11-010OAAIEléonore Viora-Dupont; Julian Delanne; Aurore Garde; Sophie Nambot; Estelle Colin; Marie Bournez; Clémence Fauconnier-Fatus; Caroline Racine; Clément Simao De Souza; Céline Bernard; Agnès Maurer; Aurélie Espitalier; Christine Binquet; Marion Bouctot; Marie-Laure Humbert; Anne-Sophie Briffaut; Véronique Darmency; Patricia Plumet; Audrey Cotinaud-Ricou; Noémie Relin; Patrick Callier; Anne-Laure Mosca-Boidron; Nathalie Marle; Frederic Tran Mau-Them; Anne-Sophie Denommé-Pichon; Hana Safraou; Antonio Vitobello; Christophe Philippe; Yannis Duffourd; Ange-Line Bruel; Christel Thauvin-Robinet; Laurence FaivreShareSaveThe clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder2025-10-180Dmitrijs Rots; Taryn E. Jakub; Crystal Keung; Adam Jackson; Siddharth Banka; Rolph Pfundt; Bert B.A. de Vries; Richard H. van Jaarsveld; Saskia M.J. Hopman; Ellen van Binsbergen; Irene Valenzuela; Maja Hempel; Tatjana Bierhals; Fanny Kortüm; Francois Lecoquierre; Alice Goldenberg; Jens Michael Hertz; Charlotte Brasch Andersen; Maria Kibæk; Eloise J. Prijoles; Roger E. Stevenson; David B. Everman; Wesley G. Patterson; Linyan Meng; Charul Gijavanekar; Karl De Dios; Shenela Lakhani; Tess Levy; Matias Wagner; Dagmar Wieczorek; Paul J. Benke; María Soledad Lopez Garcia; Renee Perrier; Sergio B. Sousa; Pedro M. Almeida; Maria José Simões; Bertrand Isidor; Wallid Deb; Andrew A. Schmanski; Omar Abdul-Rahman; Christophe Philippe; Ange-Line Bruel; Laurence Faivre; Antonio Vitobello; Christel Thauvin; Jeroen J. Smits; Livia Garavelli; Stefano G. Caraffi; Francesca Peluso; Laura Davis-Keppen; Dylan Platt; Erin Royer; Lisette Leeuwen; Margje Sinnema; Alexander P.A. Stegmann; Constance T.R.M. Stumpel; George E. Tiller; Daniëlle G.M. Bosch; Stephanus T. Potgieter; Shelagh Joss; Miranda Splitt; Simon Holden; Matina Prapa; Nicola Foulds; Sofia Douzgou; Kaija Puura; Regina Waltes; Andreas G. Chiocchetti; Christine M. Freitag; F. Kyle Satterstrom; Silvia De Rubeis; Joseph Buxbaum; Bruce D. Gelb; Aleksic Branko; Itaru Kushima; Jennifer Howe; Stephen W. Scherer; Alessia Arado; Chiara Baldo; Olivier Patat; Demeer Bénédicte; Diego Lopergolo; Filippo M. Santorelli; Tobias B. Haack; Andreas Dufke; Miriam Bertrand; Ruth J. Falb; Angelika Rieß; Peter Krieg; Stephanie Spranger; Maria Francesca Bedeschi; Maria Iascone; Sarah Josephi-Taylor; Tony Roscioli; Michael F. Buckley; Jan Liebelt; Aditi I. Dagli; Emmelien Aten; Anna C.E. Hurst; Alesha Hicks; Mohnish Suri; Ermal Aliu; Sunil Naik; Richard Sidlow; Juliette Coursimault; Gaël Nicolas; Hanna Küpper; Florence Petit; Veyan Ibrahim; Deniz Top; Francesca Di Cara; Raymond J. Louie; Elliot Stolerman; Han G. Brunner; Lisenka E.L.M. Vissers; Jamie M. Kramer; Tjitske Kleefstra
2025-10-180PREAI
Dmitrijs Rots; Taryn E. Jakub; Crystal Keung; Adam Jackson; Siddharth Banka; Rolph Pfundt; Bert B.A. de Vries; Richard H. van Jaarsveld; Saskia M.J. Hopman; Ellen van Binsbergen; Irene Valenzuela; Maja Hempel; Tatjana Bierhals; Fanny Kortüm; Francois Lecoquierre; Alice Goldenberg; Jens Michael Hertz; Charlotte Brasch Andersen; Maria Kibæk; Eloise J. Prijoles; Roger E. Stevenson; David B. Everman; Wesley G. Patterson; Linyan Meng; Charul Gijavanekar; Karl De Dios; Shenela Lakhani; Tess Levy; Matias Wagner; Dagmar Wieczorek; Paul J. Benke; María Soledad Lopez Garcia; Renee Perrier; Sergio B. Sousa; Pedro M. Almeida; Maria José Simões; Bertrand Isidor; Wallid Deb; Andrew A. Schmanski; Omar Abdul-Rahman; Christophe Philippe; Ange-Line Bruel; Laurence Faivre; Antonio Vitobello; Christel Thauvin; Jeroen J. Smits; Livia Garavelli; Stefano G. Caraffi; Francesca Peluso; Laura Davis-Keppen; Dylan Platt; Erin Royer; Lisette Leeuwen; Margje Sinnema; Alexander P.A. Stegmann; Constance T.R.M. Stumpel; George E. Tiller; Daniëlle G.M. Bosch; Stephanus T. Potgieter; Shelagh Joss; Miranda Splitt; Simon Holden; Matina Prapa; Nicola Foulds; Sofia Douzgou; Kaija Puura; Regina Waltes; Andreas G. Chiocchetti; Christine M. Freitag; F. Kyle Satterstrom; Silvia De Rubeis; Joseph Buxbaum; Bruce D. Gelb; Aleksic Branko; Itaru Kushima; Jennifer Howe; Stephen W. Scherer; Alessia Arado; Chiara Baldo; Olivier Patat; Demeer Bénédicte; Diego Lopergolo; Filippo M. Santorelli; Tobias B. Haack; Andreas Dufke; Miriam Bertrand; Ruth J. Falb; Angelika Rieß; Peter Krieg; Stephanie Spranger; Maria Francesca Bedeschi; Maria Iascone; Sarah Josephi-Taylor; Tony Roscioli; Michael F. Buckley; Jan Liebelt; Aditi I. Dagli; Emmelien Aten; Anna C.E. Hurst; Alesha Hicks; Mohnish Suri; Ermal Aliu; Sunil Naik; Richard Sidlow; Juliette Coursimault; Gaël Nicolas; Hanna Küpper; Florence Petit; Veyan Ibrahim; Deniz Top; Francesca Di Cara; Raymond J. Louie; Elliot Stolerman; Han G. Brunner; Lisenka E.L.M. Vissers; Jamie M. Kramer; Tjitske KleefstraShareSaveEIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defectsBrain2025-10-070Saikat Ghosh; Jaskaran Singh; Nadirah S Damseh; Mariasavina Severino; Raffaella De Pace; Adriana E Golding; Michal Jarnik; Poonam Thakran; Laurence Faivre; Jade Heitz; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Lama AlAbdi; Firdous Abdulwahab; Safia Sumayli; Mashael Alqahtani; Huma Arshad Cheema; Iram Javed; JiHye Kim; Hanns Lochmüller; Hagar Mor-Shaked; Jennifer E Neil; Ganeshwaran H Mochida; Giovanni Zifarelli; Peter Bauer; Ehsan Barkhordari; Ehsan Ghayoor Karimiani; Henry Houlden; Bassam Abu-Libdeh; Simon Edvardson; Orly Elpeleg; Reza Maroofian; Shunmoogum A Patten; Juan S Bonifacino
BrainIF11.7
2025-10-070PREAI
Saikat Ghosh; Jaskaran Singh; Nadirah S Damseh; Mariasavina Severino; Raffaella De Pace; Adriana E Golding; Michal Jarnik; Poonam Thakran; Laurence Faivre; Jade Heitz; Anne-Sophie Denommé-Pichon; Antonio Vitobello; Lama AlAbdi; Firdous Abdulwahab; Safia Sumayli; Mashael Alqahtani; Huma Arshad Cheema; Iram Javed; JiHye Kim; Hanns Lochmüller; Hagar Mor-Shaked; Jennifer E Neil; Ganeshwaran H Mochida; Giovanni Zifarelli; Peter Bauer; Ehsan Barkhordari; Ehsan Ghayoor Karimiani; Henry Houlden; Bassam Abu-Libdeh; Simon Edvardson; Orly Elpeleg; Reza Maroofian; Shunmoogum A Patten; Juan S BonifacinoShareSaveFurther phenotypical delineation of DLG3-related neurodevelopmental disorders2025-09-220OAAIMarlène Malbos; Thierry Gautier; Amelle Shillington; Estelle Colin; Xavier Le Guillou; Oana Caluseriu; Bertrand Isidor; Benjamin Cogné; Cyril Mignot; Boris Keren; Sacha Weber; Clémence Jacquin; Tracy Dudding; Daniel Calame; Juliette Piard; Jonathan Levy; Xenia Latypova; Alain Verloes; Tanguy Niclass; Aurélia Jacquette; Lori White; Marie-Pierre Moizard; Hélène Dollfus; Sébastien Moutton; Julian Delanne; Caroline Racine; Quentin Thomas; Anne-Sophie Denommé-Pichon; Frédéric Tran Mau-Them; Ange-Line Bruel; Hana Safraou; Christophe Philippe; Yannis Duffourd; Christel Thauvin-Robinet; Jérôme Govin; Antonio Vitobello; Laurence Faivre
2025-09-220OAAIMarlène Malbos; Thierry Gautier; Amelle Shillington; Estelle Colin; Xavier Le Guillou; Oana Caluseriu; Bertrand Isidor; Benjamin Cogné; Cyril Mignot; Boris Keren; Sacha Weber; Clémence Jacquin; Tracy Dudding; Daniel Calame; Juliette Piard; Jonathan Levy; Xenia Latypova; Alain Verloes; Tanguy Niclass; Aurélia Jacquette; Lori White; Marie-Pierre Moizard; Hélène Dollfus; Sébastien Moutton; Julian Delanne; Caroline Racine; Quentin Thomas; Anne-Sophie Denommé-Pichon; Frédéric Tran Mau-Them; Ange-Line Bruel; Hana Safraou; Christophe Philippe; Yannis Duffourd; Christel Thauvin-Robinet; Jérôme Govin; Antonio Vitobello; Laurence FaivreShareSaveA clinical and genotype-phenotype analysis of MACF1 variants2025-09-080Jordy Dekker; Rachel Schot; Kimberly A. Aldinger; David B. Everman; Camerun Washington; Julie R. Jones; Jennifer A. Sullivan; Rebecca C. Spillmann; Vandana Shashi; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Anne-Laure Mosca-Boidron; Laurence Perrin; Stéphane Auvin; Maha S. Zaki; Joseph G. Gleeson; Naomi Meave; Cassidy Wallace; Sophie Nambot; Julian Delanne; Sarah M. Ruggiero; Ingo Helbig; Mark P. Fitzgerald; Richard J. Leventer; Dorothy K. Grange; Emanuela Argilli; Elliott H. Sherr; Supraja Prakash; Derek E. Neilson; Francesco Nicita; Antonella Sferra; Enrico S. Bertini; Chiara Aiello; Knut Brockmann; Alexander B. Kuranov; Silke Kaulfuss; Sulman Basit; Majed Alluqmani; Ahmad Almatrafi; Jan M. Friedman; Colleen Guimond; Faruq Mohammed; Pooja Sharma; Divya Goel; Thomas Wirth; Mathieu Anheim; Paulina Bahena; Asuman Koparir; Konstantinos Kolokotronis; Barbara Vona; Thomas Haaf; Erdmute Kunstmann; Reza Maroofian; Henrike L. Sczakiel; Felix Boschann; Mala Misra-Isrie; Raymond J. Louie; Elliot S. Stolerman; Pedro A. Sanchez-Lara; Sandra Mergler; Renske Oegema; Yuri A. Zarate; Ariana Kariminejad; Homa Tajsharghi; Shimriet Zeidler; Anneke J.A. Kievit; Arjan Bouman; Gerarda Cappuccio; Nicola Brunetti-Pierri; Kyra E. Stuurman; Dayna Morel Swols; Mustafa Tekin; Jariya Upadia; Donna M. Martin; Daniel Craven; Susan M. Hiatt; Laura A. van de Pol; Felice D'Arco; Henri Margot; Martina Wilke; Soheil Yousefi; Tahsin Stefan Barakat; Monique M. van Veghel-Plandsoen; Eleonora Aronica; Jasper Anink; Stephen L. Rogers; Kevin C. Slep; Dan Doherty; William B. Dobyns; Grazia M.S. Mancini
2025-09-080PREAI
Jordy Dekker; Rachel Schot; Kimberly A. Aldinger; David B. Everman; Camerun Washington; Julie R. Jones; Jennifer A. Sullivan; Rebecca C. Spillmann; Vandana Shashi; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Anne-Laure Mosca-Boidron; Laurence Perrin; Stéphane Auvin; Maha S. Zaki; Joseph G. Gleeson; Naomi Meave; Cassidy Wallace; Sophie Nambot; Julian Delanne; Sarah M. Ruggiero; Ingo Helbig; Mark P. Fitzgerald; Richard J. Leventer; Dorothy K. Grange; Emanuela Argilli; Elliott H. Sherr; Supraja Prakash; Derek E. Neilson; Francesco Nicita; Antonella Sferra; Enrico S. Bertini; Chiara Aiello; Knut Brockmann; Alexander B. Kuranov; Silke Kaulfuss; Sulman Basit; Majed Alluqmani; Ahmad Almatrafi; Jan M. Friedman; Colleen Guimond; Faruq Mohammed; Pooja Sharma; Divya Goel; Thomas Wirth; Mathieu Anheim; Paulina Bahena; Asuman Koparir; Konstantinos Kolokotronis; Barbara Vona; Thomas Haaf; Erdmute Kunstmann; Reza Maroofian; Henrike L. Sczakiel; Felix Boschann; Mala Misra-Isrie; Raymond J. Louie; Elliot S. Stolerman; Pedro A. Sanchez-Lara; Sandra Mergler; Renske Oegema; Yuri A. Zarate; Ariana Kariminejad; Homa Tajsharghi; Shimriet Zeidler; Anneke J.A. Kievit; Arjan Bouman; Gerarda Cappuccio; Nicola Brunetti-Pierri; Kyra E. Stuurman; Dayna Morel Swols; Mustafa Tekin; Jariya Upadia; Donna M. Martin; Daniel Craven; Susan M. Hiatt; Laura A. van de Pol; Felice D'Arco; Henri Margot; Martina Wilke; Soheil Yousefi; Tahsin Stefan Barakat; Monique M. van Veghel-Plandsoen; Eleonora Aronica; Jasper Anink; Stephen L. Rogers; Kevin C. Slep; Dan Doherty; William B. Dobyns; Grazia M.S. ManciniShareSaveAn HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome2025-08-070OAAISanaa Choufani; Vanda McNiven; Cheryl Cytrynbaum; Maryam Jangjoo; Margaret P. Adam; Hans T. Bjornsson; Jacqueline Harris; David A. Dyment; Gail E. Graham; Marjan M. Nezarati; Ritu B. Aul; Claudia Castiglioni; Jeroen Breckpot; Koen Devriendt; Helen Stewart; Benito Banos-Pinero; Sarju Mehta; Richard Sandford; Carolyn Dunn; Remi Mathevet; Lionel van Maldergem; Juliette Piard; Elise Brischoux-Boucher; Antonio Vitobello; Laurence Faivre; Marie Bournez; Frederic Tran-Mau; Isabelle Maystadt; Alberto Fernández-Jaén; Sara Alvarez; Irene Díez García-Prieto; Fowzan S. Alkuraya; Hessa S. Alsaif; Zuhair Rahbeeni; Karen El-Akouri; Mariam Al-Mureikhi; Rebecca C. Spillmann; Vandana Shashi; Pedro A. Sanchez-Lara; John M. Graham; Amy Roberts; Odelia Chorin; Gilad D. Evrony; Minna Kraatari-Tiri; Tracy Dudding-Byth; Anamaria Richardson; David Hunt; Laura Hamilton; Sarah Dyack; Bryce A. Mendelsohn; Nicolás Rodríguez; Rosario Sánchez-Martínez; Jair Tenorio-Castaño; Julián Nevado; Pablo Lapunzina; Pilar Tirado; Maria-Teresa Carminho Amaro Rodrigues; Lina Quteineh; A. Micheil Innes; Antonie D. Kline; P.Y. Billie Au; Rosanna Weksberg
2025-08-070OAAISanaa Choufani; Vanda McNiven; Cheryl Cytrynbaum; Maryam Jangjoo; Margaret P. Adam; Hans T. Bjornsson; Jacqueline Harris; David A. Dyment; Gail E. Graham; Marjan M. Nezarati; Ritu B. Aul; Claudia Castiglioni; Jeroen Breckpot; Koen Devriendt; Helen Stewart; Benito Banos-Pinero; Sarju Mehta; Richard Sandford; Carolyn Dunn; Remi Mathevet; Lionel van Maldergem; Juliette Piard; Elise Brischoux-Boucher; Antonio Vitobello; Laurence Faivre; Marie Bournez; Frederic Tran-Mau; Isabelle Maystadt; Alberto Fernández-Jaén; Sara Alvarez; Irene Díez García-Prieto; Fowzan S. Alkuraya; Hessa S. Alsaif; Zuhair Rahbeeni; Karen El-Akouri; Mariam Al-Mureikhi; Rebecca C. Spillmann; Vandana Shashi; Pedro A. Sanchez-Lara; John M. Graham; Amy Roberts; Odelia Chorin; Gilad D. Evrony; Minna Kraatari-Tiri; Tracy Dudding-Byth; Anamaria Richardson; David Hunt; Laura Hamilton; Sarah Dyack; Bryce A. Mendelsohn; Nicolás Rodríguez; Rosario Sánchez-Martínez; Jair Tenorio-Castaño; Julián Nevado; Pablo Lapunzina; Pilar Tirado; Maria-Teresa Carminho Amaro Rodrigues; Lina Quteineh; A. Micheil Innes; Antonie D. Kline; P.Y. Billie Au; Rosanna WeksbergShareSaveReanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features2025-04-010OAAIThauvin-Robinet, Christel; Garde, Aurore; Favier, Maud; Delanne, Julian; Racine, Caroline; Rousseau, Thierry; Nambot, Sophie; Bruel, Ange-Line; Moutton, Sebastien; Quelin, Chloe; Colson, Cindy; Brehin, Anne-Claire; Guerrot, Anne-Marie; Rooryck, Caroline; Putoux, Audrey; Blanchet, Patricia; Odent, Sylvie; Schaefer, Elise; Boute, Odile; Goldenberg, Alice; Guichet, Agnes; Abel, Carine; Morel, Godelieve; Fradin, Melanie; Isidor, Bertrand; Vincent, Marie; Francannet, Christine; Vera, Gabriella; Petit, Florence; Nizon, Mathilde; Wells, Constance; Jeanne, Mederic; Deiller, Caroline; Ziegler, Alban; Godin, Manon; Saugier-Veber, Pascale; Cassinari, Kevin; Blanc, Pierre; Simon, Emmanuel; Binquet, Christine; Duffourd, Yannis; Safraou, Hana; Denomme-Pichon, Anne-Sophie; Vitobello, Antonio; Philippe, Christophe; Faivre, Laurence; Tran-Mau-Them, Frederic; Bourgon, Nicolas
2025-04-010OAAIThauvin-Robinet, Christel; Garde, Aurore; Favier, Maud; Delanne, Julian; Racine, Caroline; Rousseau, Thierry; Nambot, Sophie; Bruel, Ange-Line; Moutton, Sebastien; Quelin, Chloe; Colson, Cindy; Brehin, Anne-Claire; Guerrot, Anne-Marie; Rooryck, Caroline; Putoux, Audrey; Blanchet, Patricia; Odent, Sylvie; Schaefer, Elise; Boute, Odile; Goldenberg, Alice; Guichet, Agnes; Abel, Carine; Morel, Godelieve; Fradin, Melanie; Isidor, Bertrand; Vincent, Marie; Francannet, Christine; Vera, Gabriella; Petit, Florence; Nizon, Mathilde; Wells, Constance; Jeanne, Mederic; Deiller, Caroline; Ziegler, Alban; Godin, Manon; Saugier-Veber, Pascale; Cassinari, Kevin; Blanc, Pierre; Simon, Emmanuel; Binquet, Christine; Duffourd, Yannis; Safraou, Hana; Denomme-Pichon, Anne-Sophie; Vitobello, Antonio; Philippe, Christophe; Faivre, Laurence; Tran-Mau-Them, Frederic; Bourgon, NicolasShareSaveARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature2025-03-010OAAIHoudayer, Clara; Rooney, Kathleen; van der Laan, Liselot; Bris, Celine; Alders, Marielle; Bahr, Angela; Barcia, Giulia; Battault, Clarisse; Begemann, Anais; Bonneau, Dominique; Bonnevalle, Antoine; Boughalem, Aicha; Bourges, Alice; Bournez, Marie; Bruel, Ange-Line; Buhas, Daniela; Carallis, Floriane; Cogne, Benjamin; Cormier-Daire, Valerie; Delanne, Julian; Demaret, Tanguy; Denomme-Pichon, Anne-Sophie; Desir, Julie; Dubourg, Christele; Fradin, Melanie; Genevieve, David; Goel, Himanshu; Goldenberg, Alice; Gripp, Karen W.; Guichet, Agnes; Guimier, Anne; Jacquinet, Adeline; Keren, Boris; Legoff, Louis; Levy, Michael A.; Mcconkey, Haley; Mendelsohn, Bryce A.; Mignot, Cyril; Milon, Vincent; Nizon, Mathilde; Oneda, Beatrice; Pasquier, Laurent; Patat, Olivier; Philippe, Christophe; Procaccio, Vincent; Procopio, Rebecca; Prouteau, Clement; Rambaud, Thomas; Rauch, Anita; Relator, Raissa; Rondeau, Sophie; Santen, Gijs W. E.; Schleit, Jennifer; Sorlin, Arthur; Steindl, Katharina; Tedder, Matt; Tessarech, Marine; Mau-Them, Frederic Tran; Trost, Detlef; van der Sluijs, Pleuntje J.; Vincent, Marie; Whalen, Sandra; Thauvin-Robinet, Christel; Isidor, Bertrand; Sadikovic, Bekim; Vitobello, Antonio; Colin, Estelle
2025-03-010OAAIHoudayer, Clara; Rooney, Kathleen; van der Laan, Liselot; Bris, Celine; Alders, Marielle; Bahr, Angela; Barcia, Giulia; Battault, Clarisse; Begemann, Anais; Bonneau, Dominique; Bonnevalle, Antoine; Boughalem, Aicha; Bourges, Alice; Bournez, Marie; Bruel, Ange-Line; Buhas, Daniela; Carallis, Floriane; Cogne, Benjamin; Cormier-Daire, Valerie; Delanne, Julian; Demaret, Tanguy; Denomme-Pichon, Anne-Sophie; Desir, Julie; Dubourg, Christele; Fradin, Melanie; Genevieve, David; Goel, Himanshu; Goldenberg, Alice; Gripp, Karen W.; Guichet, Agnes; Guimier, Anne; Jacquinet, Adeline; Keren, Boris; Legoff, Louis; Levy, Michael A.; Mcconkey, Haley; Mendelsohn, Bryce A.; Mignot, Cyril; Milon, Vincent; Nizon, Mathilde; Oneda, Beatrice; Pasquier, Laurent; Patat, Olivier; Philippe, Christophe; Procaccio, Vincent; Procopio, Rebecca; Prouteau, Clement; Rambaud, Thomas; Rauch, Anita; Relator, Raissa; Rondeau, Sophie; Santen, Gijs W. E.; Schleit, Jennifer; Sorlin, Arthur; Steindl, Katharina; Tedder, Matt; Tessarech, Marine; Mau-Them, Frederic Tran; Trost, Detlef; van der Sluijs, Pleuntje J.; Vincent, Marie; Whalen, Sandra; Thauvin-Robinet, Christel; Isidor, Bertrand; Sadikovic, Bekim; Vitobello, Antonio; Colin, EstelleShareSaveHeterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity2025-03-010Bruel, Ange-Line; Vulto-vanSilfhout, Anneke T.; Bilan, Frederic; Le Guyader, Gwenael; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Rondeau, Sophie; Rio, Marlene; Lee, Kristen N.; Beil, Adelyn; Suri, Mohnish; Guerin, Francois; Ruault, Valentin; Goldenberg, Alice; Lecoquierre, Francois; Bertsch, Nicole; Anderson, Rhonda; Yang, Xiao-Ru; Inness, Micheil; Rikeros-Orozco, Emi; Palomares-Bralo, Maria; Hayek, Jennifer Cassady; Cech, Jennifer; Jhuraney, Ankita; Kumar, Runjun D.; Mercimek-Andrews, Saadet; Ambrose, Anastasia; Wakeling, Erin N.; Wentzensen, Ingrid M.; Torti, Erin; Gooch, Catherine; Faivre, Laurence; Philippe, Christophe; Duffourd, Yannis; Vitobello, Antonio; Thauvin-Robinet, Christel
2025-03-010PREAI
Bruel, Ange-Line; Vulto-vanSilfhout, Anneke T.; Bilan, Frederic; Le Guyader, Gwenael; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Rondeau, Sophie; Rio, Marlene; Lee, Kristen N.; Beil, Adelyn; Suri, Mohnish; Guerin, Francois; Ruault, Valentin; Goldenberg, Alice; Lecoquierre, Francois; Bertsch, Nicole; Anderson, Rhonda; Yang, Xiao-Ru; Inness, Micheil; Rikeros-Orozco, Emi; Palomares-Bralo, Maria; Hayek, Jennifer Cassady; Cech, Jennifer; Jhuraney, Ankita; Kumar, Runjun D.; Mercimek-Andrews, Saadet; Ambrose, Anastasia; Wakeling, Erin N.; Wentzensen, Ingrid M.; Torti, Erin; Gooch, Catherine; Faivre, Laurence; Philippe, Christophe; Duffourd, Yannis; Vitobello, Antonio; Thauvin-Robinet, ChristelShareSaveHeterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual DisabilityHUMAN MUTATION2025-01-010OAAICordovado, Amelie; Herenger, Yvan; Cormier, Coline; Lopez-Martin, Estrella; Stamberger, Hannah; Faivre, Laurence; Denomme-Pichon, Anne-Sophie; Vitobello, Antonio; Abdallah, Hamza Hadj; Barcia, Giulia; Courtin, Thomas; Martinez-Delgado, Beatriz; Bermejo-Sanchez, Eva; Barrero, Maria J.; Gasser, Brooklynn; Bezieau, Stephane; Kury, Sebastien; Weckhuysen, Sarah; Laumonnier, Frederic; Toutain, Annick; Vuillaume, Marie-Laure
HUMAN MUTATIONIF3.7
2025-01-010OAAICordovado, Amelie; Herenger, Yvan; Cormier, Coline; Lopez-Martin, Estrella; Stamberger, Hannah; Faivre, Laurence; Denomme-Pichon, Anne-Sophie; Vitobello, Antonio; Abdallah, Hamza Hadj; Barcia, Giulia; Courtin, Thomas; Martinez-Delgado, Beatriz; Bermejo-Sanchez, Eva; Barrero, Maria J.; Gasser, Brooklynn; Bezieau, Stephane; Kury, Sebastien; Weckhuysen, Sarah; Laumonnier, Frederic; Toutain, Annick; Vuillaume, Marie-LaureShareSaveBiallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial gliaBRAIN2024-07-312OAAINakamura, Yuji; Shimada, Issei S.; Maroofian, Reza; Falabella, Micol; Zaki, Maha S.; Fujimoto, Masanori; Sato, Emi; Takase, Hiroshi; Aoki, Shiho; Miyauchi, Akihiko; Koshimizu, Eriko; Miyatake, Satoko; Arioka, Yuko; Honda, Mizuki; Higashi, Takayoshi; Miya, Fuyuki; Okubo, Yukimune; Ogawa, Isamu; Scardamaglia, Annarita; Miryounesi, Mohammad; Alijanpour, Sahar; Ahmadabadi, Farzad; Herkenrath, Peter; Dafsari, Hormos Salimi; Velmans, Clara; Al Balwi, Mohammed; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie; Jeanne, Mederic; Civit, Antoine; Abdel-Hamid, Mohamed S.; Naderi, Hamed; Darvish, Hossein; Bakhtiari, Somayeh; Kruer, Michael C.; Carroll, Christopher J.; Karimiani, Ehsan Ghayoor; Khailany, Rozhgar A.; Abdulqadir, Talib Adil; Ozaslan, Mehmet; Bauer, Peter; Zifarelli, Giovanni; Seifi, Tahere; Zamani, Mina; Al Alam, Chadi; Alvi, Javeria Raza; Sultan, Tipu; Efthymiou, Stephanie; Pope, Simon A. S.; Haginoya, Kazuhiro; Matsunaga, Tamihide; Osaka, Hitoshi; Matsumoto, Naomichi; Ozaki, Norio; Ohkawa, Yasuyuki; Oki, Shinya; Tsunoda, Tatsuhiko; Pitceathly, Robert D. S.; Taketomi, Yoshitaka; Houlden, Henry; Murakami, Makoto; Kato, Yoichi; Saitoh, Shinji
BRAINIF11.7
2024-07-312OAAINakamura, Yuji; Shimada, Issei S.; Maroofian, Reza; Falabella, Micol; Zaki, Maha S.; Fujimoto, Masanori; Sato, Emi; Takase, Hiroshi; Aoki, Shiho; Miyauchi, Akihiko; Koshimizu, Eriko; Miyatake, Satoko; Arioka, Yuko; Honda, Mizuki; Higashi, Takayoshi; Miya, Fuyuki; Okubo, Yukimune; Ogawa, Isamu; Scardamaglia, Annarita; Miryounesi, Mohammad; Alijanpour, Sahar; Ahmadabadi, Farzad; Herkenrath, Peter; Dafsari, Hormos Salimi; Velmans, Clara; Al Balwi, Mohammed; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie; Jeanne, Mederic; Civit, Antoine; Abdel-Hamid, Mohamed S.; Naderi, Hamed; Darvish, Hossein; Bakhtiari, Somayeh; Kruer, Michael C.; Carroll, Christopher J.; Karimiani, Ehsan Ghayoor; Khailany, Rozhgar A.; Abdulqadir, Talib Adil; Ozaslan, Mehmet; Bauer, Peter; Zifarelli, Giovanni; Seifi, Tahere; Zamani, Mina; Al Alam, Chadi; Alvi, Javeria Raza; Sultan, Tipu; Efthymiou, Stephanie; Pope, Simon A. S.; Haginoya, Kazuhiro; Matsunaga, Tamihide; Osaka, Hitoshi; Matsumoto, Naomichi; Ozaki, Norio; Ohkawa, Yasuyuki; Oki, Shinya; Tsunoda, Tatsuhiko; Pitceathly, Robert D. S.; Taketomi, Yoshitaka; Houlden, Henry; Murakami, Makoto; Kato, Yoichi; Saitoh, ShinjiShareSaveDNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants2024-07-012OAAIvan der Laan, Liselot; Lauffer, Peter; Rooney, Kathleen; Silva, Ananilia; Haghshenas, Sadegheh; Relator, Raissa; Levy, Michael A.; Trajkova, Slavica; Huisman, Sylvia A.; Bijlsma, Emilia K.; Kleefstra, Tjitske; van Bon, Bregje W.; Baysal, Ozlem; Zweier, Christiane; Palomares-Bralo, Maria; Fischer, Jan; Szakszon, Katalin; Faivre, Laurence; Piton, Amelie; Mesman, Simone; Hochstenbach, Ron; Elting, Mariet W.; van Hagen, Johanna M.; Plomp, Astrid S.; Mannens, Marcel M. A. M.; Alders, Marielle; van Haelst, Mieke M.; Ferrero, Giovanni B.; Brusco, Alfredo; Henneman, Peter; Sweetser, David A.; Sadikovic, Bekim; Vitobello, Antonio; Menke, Leonie A.
2024-07-012OAAIvan der Laan, Liselot; Lauffer, Peter; Rooney, Kathleen; Silva, Ananilia; Haghshenas, Sadegheh; Relator, Raissa; Levy, Michael A.; Trajkova, Slavica; Huisman, Sylvia A.; Bijlsma, Emilia K.; Kleefstra, Tjitske; van Bon, Bregje W.; Baysal, Ozlem; Zweier, Christiane; Palomares-Bralo, Maria; Fischer, Jan; Szakszon, Katalin; Faivre, Laurence; Piton, Amelie; Mesman, Simone; Hochstenbach, Ron; Elting, Mariet W.; van Hagen, Johanna M.; Plomp, Astrid S.; Mannens, Marcel M. A. M.; Alders, Marielle; van Haelst, Mieke M.; Ferrero, Giovanni B.; Brusco, Alfredo; Henneman, Peter; Sweetser, David A.; Sadikovic, Bekim; Vitobello, Antonio; Menke, Leonie A.ShareSaveModel matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe)LAB ANIMAL2024-06-240OAAIEllwanger, Kornelia; Brill, Julie A.; de Boer, Elke; Efthymiou, Stephanie; Elgersma, Ype; Icmat, Marynelle; Lecoquierre, Francois; Lobato, Amanda G.; Morleo, Manuela; Ori, Michela; Schaffer, Ashleigh E.; Vitobello, Antonio; Wells, Sara; Yalcin, Binnaz; Zhai, R. Grace; Sturm, Marc; Zurek, Birte; Graessner, Holm; Bermejo-Sanchez, Eva; Evangelista, Teresinha; Hoogerbrugge, Nicoline; Nigro, Vincenzo; Schuele, Rebecca; Verloes, Alain; Brunner, Han; Campeau, Philippe M.; Lasko, Paul; Riess, Olaf
LAB ANIMALIF3.9
2024-06-240OAAIEllwanger, Kornelia; Brill, Julie A.; de Boer, Elke; Efthymiou, Stephanie; Elgersma, Ype; Icmat, Marynelle; Lecoquierre, Francois; Lobato, Amanda G.; Morleo, Manuela; Ori, Michela; Schaffer, Ashleigh E.; Vitobello, Antonio; Wells, Sara; Yalcin, Binnaz; Zhai, R. Grace; Sturm, Marc; Zurek, Birte; Graessner, Holm; Bermejo-Sanchez, Eva; Evangelista, Teresinha; Hoogerbrugge, Nicoline; Nigro, Vincenzo; Schuele, Rebecca; Verloes, Alain; Brunner, Han; Campeau, Philippe M.; Lasko, Paul; Riess, OlafShareSaveExtending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective2024-06-070OAAICuinat, Silvestre; Quelin, Chloe; Effray, Claire; Dubourg, Christele; Le Bouar, Gwenaelle; Cabaret-Dufour, Anne-Sophie; Loget, Philippe; Proisy, Maia; Sauvestre, Fanny; Sarreau, Melie; Martin-Berenguer, Sophie; Beneteau, Claire; Naudion, Sophie; Michaud, Vincent; Arveiler, Benoit; Trimouille, Aurelien; Mace, Pierre; Sigaudy, Sabine; Glazunova, Olga; Torrents, Julia; Raymond, Laure; Saint-Frison, Marie-Helene; Attie-Bitach, Tania; Lefebvre, Mathilde; Capri, Yline; Bourgon, Nicolas; Thauvin-Robinet, Christel; Tran Mau-Them, Frederic; Bruel, Ange-Line; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie; Faivre, Laurence; Brehin, Anne-Claire; Goldenberg, Alice; Patrier-Sallebert, Sophie; Perani, Alexandre; Dauriat, Benjamin; Bourthoumieu, Sylvie; Yardin, Catherine; Marquet, Valentine; Barnique, Marion; Fiorenza-Gasq, Maryse; Marey, Isabelle; Tournadre, Danielle; Doumit, Raia; Nugues, Frederique; Barakat, Tahsin Stefan; Bustos, Francisco; Jaillard, Sylvie; Launay, Erika; Pasquier, Laurent; Odent, Sylvie
2024-06-070OAAICuinat, Silvestre; Quelin, Chloe; Effray, Claire; Dubourg, Christele; Le Bouar, Gwenaelle; Cabaret-Dufour, Anne-Sophie; Loget, Philippe; Proisy, Maia; Sauvestre, Fanny; Sarreau, Melie; Martin-Berenguer, Sophie; Beneteau, Claire; Naudion, Sophie; Michaud, Vincent; Arveiler, Benoit; Trimouille, Aurelien; Mace, Pierre; Sigaudy, Sabine; Glazunova, Olga; Torrents, Julia; Raymond, Laure; Saint-Frison, Marie-Helene; Attie-Bitach, Tania; Lefebvre, Mathilde; Capri, Yline; Bourgon, Nicolas; Thauvin-Robinet, Christel; Tran Mau-Them, Frederic; Bruel, Ange-Line; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie; Faivre, Laurence; Brehin, Anne-Claire; Goldenberg, Alice; Patrier-Sallebert, Sophie; Perani, Alexandre; Dauriat, Benjamin; Bourthoumieu, Sylvie; Yardin, Catherine; Marquet, Valentine; Barnique, Marion; Fiorenza-Gasq, Maryse; Marey, Isabelle; Tournadre, Danielle; Doumit, Raia; Nugues, Frederique; Barakat, Tahsin Stefan; Bustos, Francisco; Jaillard, Sylvie; Launay, Erika; Pasquier, Laurent; Odent, SylvieShareSaveResearch Directions
No research directions