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Antonio Vitobello (A Vitobello)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 39

Top Venues

European journal of human genetics : EJHG

Science advances

Clinical genetics

Human mutation

Centre Hospitalier Universitaire de Dijon

Friedrich Miescher Institute for Biomedical Research (PHD)

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

Affiliation History

Centre Hospitalier Universitaire de Dijon

France

Researcher :: Medical Genetics

Education History

Friedrich Miescher Institute for Biomedical Research

Switzerland

PHD :: Universität Basel

Publications

Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christèle Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frederic Tran Mau-Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Eleonore Viora-Dupont, Anne Sophie Denommé-Pichon, M Chevarin, O Patat, Marjolaine Willems, N Bourgon, A Bruel, M Aubert-Mucca, M Galinier, R Itier, S Decramer, A Piton, B Gerard, C Billon, X Jeunemaitre, Y Duffourd, P Callier, C Thauvin, C Philippe, Laurence Olivier-Faivre, J Albuisson, Antonio Vitobello
Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndrome. American journal of medical genetics. Part A (2023)
Robin Wijngaard, German Demidov, Luke O'Gorman, Jordi Corominas-Galbany, Burcu Yaldiz, Wouter Steyaert, Elke de Boer, Lisenka E L M Vissers, Erik-Jan Kamsteeg, Rolph Pfundt, Hilde Swinkels, Amber den Ouden, Iris B A W Te Paske, Richarda M de Voer, Laurence Faivre, Anne Sophie Denommé-Pichon, Yannis Duffourd, Antonio Vitobello, Martin Chevarin, Volker Straub, Ana Töpf, Anneke J van der Kooi, Francesca Magrinelli, Clarissa Rocca, Michael G Hanna, Jana Vandrovcova, null null, Stephan Ossowski, Steven Laurie, Christian Gilissen
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples. European journal of human genetics : EJHG (2023)
Victoria Patterson, Farid Ullah, Laura Bryant, John N Griffin, Alpa Sidhu, Sheila Saliganan, Mackenzie Blaile, Margarita Sifuentes Saenz, Rosemarie Smith, Sara Ellingwood, Dorothy K Grange, Xuyun Hu, Maimaiti Mireguli, Yanfei Luo, Yiping Shen, Maureen S Mulhern, Elaine Zackai, Alyssa L Ritter, Kosaki Izumi, Julia Hoefele, Matias Wagner, Korbinian Maria Riedhammer, Barbara Seitz, Nathaniel H Robin, Dana Goodloe, Cyril Mignot, Boris Keren, Helen Cox, Joanna Jarvis, Maja Hempel, Cynthia Forster Gibson, Frederic Tran Mau-Them, Antonio Vitobello, Ange-Line Bruel, Arthur Sorlin, Sarju G Mehta, F Lucy Raymond, Kelly Gilmore, Bradford C Powell, Karen E Weck, Chumei Li, Anneke T Vulto-van Silfhout, Thea Giacomini, Maria Margherita Mancardi, Andrea Accogli, Vincenzo Salpietro, Federico Zara, Neeta L Vora, Erica E Davis, Rebecca D Burdine, Elizabeth Joyce Bhoj
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish. Science advances 9 (17) (2023)
Victoria Patterson, Farid Ullah, Laura Bryant, John N Griffin, Alpa Sidhu, Sheila Saliganan, Mackenzie Blaile, Margarita Sifuentes Saenz, Rosemarie Smith, Sara Ellingwood, Dorothy K Grange, Xuyun Hu, Maimaiti Mireguli, Yanfei Luo, Yiping Shen, Maureen S Mulhern, Elaine Zackai, Alyssa L Ritter, Kosaki Izumi, Julia Hoefele, Matias Wagner, Korbinian Maria Riedhammer, Barbara Seitz, Nathaniel H Robin, Dana Goodloe, Cyril Mignot, Boris Keren, Helen Cox, Joanna Jarvis, Maja Hempel, Cynthia Forster Gibson, Frederic Tran Mau-Them, Antonio Vitobello, Ange-Line Bruel, Arthur Sorlin, Sarju G Mehta, F Lucy Raymond, Kelly Gilmore, Bradford C Powell, Karen E Weck, Chumei Li, Anneke T Vulto-van Silfhout, Thea Giacomini, Maria Margherita Mancardi, Andrea Accogli, Vincenzo Salpietro, Federico Zara, Neeta L Vora, Erica E Davis, Rebecca D Burdine, Elizabeth Joyce Bhoj
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish. Science advances 9 (17) (2023)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christèle Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frederic Tran Mau-Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Mio Aerden, Anne Sophie Denommé-Pichon, Dominique Bonneau, Ange-Line Bruel, Julian Delanne, Bénédicte Gérard, Benoit Mazel, Christophe Philippe, Lucile Pinson, Clément Prouteau, Audrey Putoux, Frederic Tran Mau-Them, Eleonore Viora-Dupont, Antonio Vitobello, Alban Ziegler, Amelie Piton, Bertrand Isidor, Christine Francannet, Pierre-Yves Maillard, Sophie Julia, Anais Philippe, Elise Schaefer, Saskia Koene, Claudia Ruivenkamp, Mariette J V Hoffer, Eric Legius, Miel Theunis, Boris Keren, Julien Buratti, Perrine Charles, Thomas Courtin, Mala Misra-Isrie, Mieke M van Haelst, Quinten Waisfisz, Dagmar Wieczorek, Ariane Schmetz, Theresia Herget, Fanny Kortüm, Jasmin Lisfeld, François-Guillaume Debray, Nuria C Bramswig, Isis Atallah, Heidi Fodstad, Guillaume Jouret, Berta Almoguera, Saoud Tahsin Swafiri, Fernando Santos-Simarro, Maria Palomares-Bralo, Vanesa López-González, Maria Kibaek, Pernille M Tørring, Alessandra Renieri, Lucia Pia Bruno, Katrin Õunap, Monica Wojcik, Tzung-Chien Hsieh, Peter Krawitz, Hilde Van Esch
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant. European journal of human genetics : EJHG (2023)
Camille Engel, Stéphanie Valence, Geoffroy Delplancq, Reza Maroofian, Andrea Accogli, Emanuele Agolini, Fowzan Sami Alkuraya, Valentina Baglioni, Irene Bagnasco, Mathilde Becmeur-Lefebvre, Enrico Silvio Bertini, Ingo Borggraefe, Elise Brischoux-Boucher, Ange-Line Bruel, Alfredo Brusco, Dalal K Bubshait, Christelle Cabrol, Maria Roberta Cilio, Marie-Coralie Cornet, Christine Coubes, Olivier Danhaive, Valérie Delague, Anne Sophie Denommé-Pichon, Marilena Carmela Di Giacomo, Martine Doco-Fenzy, Hartmut Engels, Kirsten Cremer, Marion Gérard, Joseph G Gleeson, Delphine Heron, Joanna Goffeney, Anne Guimier, Frederike L Harms, Henry Houlden, Michele Iacomino, Rauan Kaiyrzhanov, Benjamin Kamien, Ehsan Ghayoor Karimiani, Dror Kraus, Paul Kuentz, Kerstin Kutsche, Damien Lederer, Lauren Massingham, Cyril Mignot, Deborah J Morris-Rosendahl, Lakshmi Nagarajan, Sylvie Odent, Clothilde Ormières, Jennifer Neil Partlow, Laurent Pasquier, Lynette Penney, Christophe Philippe, Gianluca Piccolo, Cathryn Poulton, Audrey Putoux, Marlène Rio, Christelle Rougeot, Vincenzo Salpietro, Ingrid Scheffer, Amy L Schneider, Siddharth Srivastava, Rachel Straussberg, Pasquale Striano, Enza Maria Valente, Perrine Venot, Laurent Villard, Antonio Vitobello, Johanna Wagner, Matias Wagner, Maha Saad Zaki, Federizo Zara, Gaëtan Lesca, Vahid Reza Yassaee, Mohammad Miryounesi, Feyzollah Hashemi-Gorji, Mehran Beiraghi, Farah Ashrafzadeh, Hamid Galehdari, Christopher A Walsh, Antonio Novelli, Moritz Tacke, Dinara Sadykova, Yerdan Maidyrov, Kairgali Koneev, Chingiz Shashkin, Valeria Capra, Mina Zamani, Lionel Van Maldergem, Lydie Burglen, Juliette Piard
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. European journal of human genetics : EJHG (2023)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christèle Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frederic Tran Mau-Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christèle Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frederic Tran Mau-Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Robin Wijngaard, German Demidov, Luke O'Gorman, Jordi Corominas-Galbany, Burcu Yaldiz, Wouter Steyaert, Elke de Boer, Lisenka E L M Vissers, Erik-Jan Kamsteeg, Rolph Pfundt, Hilde Swinkels, Amber den Ouden, Iris B A W Te Paske, Richarda M de Voer, Laurence Faivre, Anne Sophie Denommé-Pichon, Yannis Duffourd, Antonio Vitobello, Martin Chevarin, Volker Straub, Ana Töpf, Anneke J van der Kooi, Francesca Magrinelli, Clarissa Rocca, Michael G Hanna, Jana Vandrovcova, null null, Stephan Ossowski, Steven Laurie, Christian Gilissen
Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples. European journal of human genetics : EJHG (2023)
Johannes Luppe, Heinrich Sticht, François Lecoquierre, Alice Goldenberg, Kathleen M Gorman, Ben Molloy, Emanuele Agolini, Antonio Novelli, Silvana Briuglia, Outi Kuismin, Carlo Marcelis, Antonio Vitobello, Anne Sophie Denommé-Pichon, Sophie Julia, Johannes R Lemke, Rami Abou Jamra, Konrad Platzer
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy. European journal of human genetics : EJHG 31 (3) (2022)
Emilie Tisserant, Antonio Vitobello, Davide Callegarin, Simon Verdez, Ange-Line Bruel, Ludwig Serge Aho Glele, Arthur Sorlin, Eleonore Viora-Dupont, Marina Konyukh, Nathalie Marle, Sophie Nambot, Sebastien Moutton, Caroline Racine, Aurore Garde, Julian Delanne, Frederic Tran Mau-Them, Christophe Philippe, Paul Kuentz, Marlène Poulleau, Muriel Payet, Charlotte Poe, Christel Thauvin-Robinet, Laurence Olivier-Faivre, Anne-Laure Mosca-Boidron, Julien Thevenon, Yannis Duffourd, Patrick Callier
Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH. Annals of human genetics 86 (4) (2022)
Johannes Luppe, Heinrich Sticht, François Lecoquierre, Alice Goldenberg, Kathleen M Gorman, Ben Molloy, Emanuele Agolini, Antonio Novelli, Silvana Briuglia, Outi Kuismin, Carlo Marcelis, Antonio Vitobello, Anne Sophie Denommé-Pichon, Sophie Julia, Johannes R Lemke, Rami Abou Jamra, Konrad Platzer
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy. European journal of human genetics : EJHG 31 (3) (2022)
Philippine Garret, Martin Chevarin, Antonio Vitobello, Simon Verdez, Cyril Fournier, Alain Verloes, Emilie Tisserant, Pierre Vabres, Orlane Prevel, Christophe Philippe, Anne Sophie Denommé-Pichon, Ange-Line Bruel, Frederic Tran Mau-Them, Hana Safraou, Aïcha Boughalem, Jean-Marc Costa, Detlef Trost, Christel Thauvin-Robinet, Laurence Faivre, Yannis Duffourd
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort. European journal of human genetics : EJHG (2022)
Johannes Luppe, Heinrich Sticht, François Lecoquierre, Alice Goldenberg, Kathleen M Gorman, Ben Molloy, Emanuele Agolini, Antonio Novelli, Silvana Briuglia, Outi Kuismin, Carlo Marcelis, Antonio Vitobello, Anne Sophie Denommé-Pichon, Sophie Julia, Johannes R Lemke, Rami Abou Jamra, Konrad Platzer
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy. European journal of human genetics : EJHG 31 (3) (2022)
Nicolas Bourgon, Aurore Garde, Ange-Line Bruel, Mathilde Lefebvre, Frederic Tran Mau-Them, Sebastien Moutton, Arthur Sorlin, Sophie Nambot, Julian Delanne, Martin Chevarin, Charlotte Pöe, Julien Thevenon, Daphné Lehalle, Nolween Jean-Marçais, Paul Kuentz, Laetitia Lambert, Salima El Chehadeh, Elise Schaefer, Marjolaine Willems, Fanny Laffargue, Christine Francannet, Mélanie Fradin, Dominique Gaillard, Sophie Blesson, Alice Goldenberg, Yline Capri, Paul Sagot, Thierry Rousseau, Emmanuel Simon, Christine Binquet, Marie-Laure Ascencio, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Antonio Vitobello, Christel Thauvin-Robinet
Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis? European journal of human genetics : EJHG 30 (8) (2022)
Johannes Luppe, Heinrich Sticht, François Lecoquierre, Alice Goldenberg, Kathleen M Gorman, Ben Molloy, Emanuele Agolini, Antonio Novelli, Silvana Briuglia, Outi Kuismin, Carlo Marcelis, Antonio Vitobello, Anne Sophie Denommé-Pichon, Sophie Julia, Johannes R Lemke, Rami Abou Jamra, Konrad Platzer
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy. European journal of human genetics : EJHG 31 (3) (2022)
Simon Verdez, Quentin Thomas, Philippine Garret, Céline Verstuyft, Emilie Tisserant, Antonio Vitobello, Frederic Tran Mau-Them, Christophe Philippe, Marc Bardou, Maxime Luu, Abderrahmane Bourredjem, Patrick Callier, Christel Thauvin-Robinet, Nicolas Picard, Laurence Faivre, Yannis Duffourd
Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients. The pharmacogenomics journal 22 (5-6) (2022)
Robert Schöpflin, Uirá Souto Melo, Hossein Moeinzadeh, David Heller, Verena Laupert, Jakob Hertzberg, Manuel Holtgrewe, Nico Alavi, Marius-Konstantin Klever, Julius Jungnitsch, Emel Comak, Seval Türkmen, Denise Horn, Yannis Duffourd, Laurence Faivre, Patrick Callier, Damien Sanlaville, Orsetta Zuffardi, Romano Tenconi, Nehir Edibe Kurtas, Sabrina Giglio, Bettina Prager, Anna Latos-Bielenska, Ida Vogel, Merete Bugge, Niels Tommerup, Malte Spielmann, Antonio Vitobello, Vera M Kalscheuer, Martin Vingron, Stefan Mundlos
Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes. Nature communications 13 (1) (2022)
Aidin Foroutan, Sadegheh Haghshenas, Pratibha Bhai, Michael A Levy, Jennifer Kerkhof, Haley McConkey, Marcello Niceta, Andrea Ciolfi, Lucia Pedace, Evelina Miele, David Genevieve, Solveig Heide, Mariëlle Alders, Giuseppe Zampino, Giuseppe Merla, Mélanie Fradin, Eric Bieth, Dominique Bonneau, Klaus Dieterich, Patricia Fergelot, Elise Schaefer, Laurence Faivre, Antonio Vitobello, Silvia Maitz, Rita Fischetto, Cristina Gervasini, Maria Piccione, Ingrid M B H van de Laar, Tartaglia Marco, Bekim Sadikovic, Anne-Sophie Lèbre
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A -Related Syndrome. International journal of molecular sciences 23 (3) (2022)
Johannes Luppe, Heinrich Sticht, François Lecoquierre, Alice Goldenberg, Kathleen M Gorman, Ben Molloy, Emanuele Agolini, Antonio Novelli, Silvana Briuglia, Outi Kuismin, Carlo Marcelis, Antonio Vitobello, Anne Sophie Denommé-Pichon, Sophie Julia, Johannes R Lemke, Rami Abou Jamra, Konrad Platzer
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy. European journal of human genetics : EJHG 31 (3) (2022)
Johannes Luppe, Heinrich Sticht, François Lecoquierre, Alice Goldenberg, Kathleen M Gorman, Ben Molloy, Emanuele Agolini, Antonio Novelli, Silvana Briuglia, Outi Kuismin, Carlo Marcelis, Antonio Vitobello, Anne Sophie Denommé-Pichon, Sophie Julia, Johannes R Lemke, Rami Abou Jamra, Konrad Platzer
Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy. European journal of human genetics : EJHG (2022)
Marcello Scala, Masashi Nishikawa, Hidenori Ito, Hidenori Tabata, Tayyaba Khan, Andrea Accogli, Laura Davids, Anna Ruiz, Pietro Chiurazzi, Gabriella Cericola, Björn Schulte, Kristin G Monaghan, Amber Begtrup, Annalaura Torella, Michele Pinelli, Anne Sophie Denommé-Pichon, Antonio Vitobello, Caroline Racine, Maria Margherita Mancardi, Courtney Kiss, Andrea Guerin, Wendy Wu, Elisabeth Gabau Vila, Bryan C Mak, Julian A Martinez-Agosto, Michael B Gorin, Bugrahan Duz, Yavuz Bayram, Claudia M B Carvalho, Jaime E Vengoechea, David Chitayat, Tiong Yang Tan, Bert Callewaert, Bernd Kruse, Lynne M Bird, Laurence Faivre, Marcella Zollino, Saskia Biskup, null null, null null, Pasquale Striano, Vincenzo Nigro, Mariasavina Severino, Valeria Capra, Gregory Costain, Caroline Racine
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes. Brain : a journal of neurology 145 (9) (2022)
Ange-Line Bruel, Antonio Vitobello, Isabelle Thiffault, Linda Manwaring, Marcia Willing, Pankaj B Agrawal, Carolina Alvarez, Thomas M Kitzler, Catherine A Brownstein, Casie A Genetti, Joseph Gonzalez-Heydrich, Parul Jayakar, Jacob W Zyskind, Zehua Zhu, Clemence Vachet, Gena R Wilson, Brianna Pruniski, Anne-Marie Goyette, Yannis Duffourd, Christel Thauvin-Robinet, Christophe Philippe, Laurence Faivre
ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum. European journal of human genetics : EJHG (2021)
Anne Sophie Denommé-Pichon, Antonio Vitobello, Robert Olaso, Alban Ziegler, Médéric Jeanne, Frédéric Tran Mau-Them, Victor Couturier, Caroline Racine, Bertrand Isidor, Charlotte Poë, Thibaud Jouan, Anne Boland-Auge, Bertrand Fin, Delphine Bacq-Daian, Céline Besse, Aurore Garde, Adeline Prost, Philippine Garret, Émilie Tisserant, Julian Delanne, Sophie Nambot, Aurélien Juven, Magali Gorce, Mathilde Nizon, Marie Vincent, Sebastien Moutton, Mélanie Fradin, Alinoë Lavillaureix, Paul Rollier, Yline Capri, Julien Van-Gils, Tiffany Busa, Sabine Sigaudy, Laurent Pasquier, Magalie Barth, Ange-Line Bruel, Cyril Flamant, Clément Prouteau, Dominique Bonneau, Annick Toutain, Corinne Chantegret, Patrick Callier, Christophe Philippe, Yannis Duffourd, Jean-François Deleuze, Arthur Sorlin, Laurence Faivre, Christel Thauvin-Robinet
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network. European journal of human genetics : EJHG (2021)
Ilaria Parenti, Daphné Lehalle, Caroline Nava, Erin Torti, Elsa Leitão, Richard Person, Takeshi Mizuguchi, Naomichi Matsumoto, Mitsuhiro Kato, Kazuyuki Nakamura, Stella A de Man, Heidi Cope, Vandana Shashi, null null, Jennifer Friedman, Pascal Joset, Katharina Steindl, Anita Rauch, Irena Muffels, Peter M van Hasselt, Florence Petit, Thomas Smol, Gwenaël Le Guyader, Frederic Bilan, Arthur Sorlin, Antonio Vitobello, Christophe Philippe, Ingrid M B H van de Laar, Marjon A van Slegtenhorst, Philippe M Campeau, Ping Yee Billie Au, Mitsuko Nakashima, Hirotomo Saitsu, Tatsuya Yamamoto, Yumiko Nomura, Raymond J Louie, Michael J Lyons, Amy Dobson, Astrid S Plomp, M Mahdi Motazacker, Frank J Kaiser, Andrew T Timberlake, Sabine A Fuchs, Christel Depienne, Mignot Cyril
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy. Human genetics 140 (7) (2021)
Birte Zurek, Kornelia Ellwanger, Lisenka E L M Vissers, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Richarda M de Voer, Steven Laurie, Leslie Matalonga, Christian Gilissen, Stephan Ossowski, Peter A C 't Hoen, Antonio Vitobello, Julia M Schulze-Hentrich, Olaf Riess, Han G Brunner, Anthony J Brookes, Ana Rath, Gisèle Bonne, Gulcin Gumus, Alain Verloes, Nicoline Hoogerbrugge, Teresinha Evangelista, Tina Harmuth, Morris Swertz, J Dylan Spalding, Alexander Hoischen, Sergi Beltran, Holm Graessner, null null
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. European journal of human genetics : EJHG 29 (9) (2021)
Memoona Ramzan, Christophe Philippe, Inna A Belyantseva, Yoko Nakano, Cristina Fenollar-Ferrer, Risa Tona, Rizwan Yousaf, Rasheeda Basheer, Ayesha Imtiaz, Rabia Faridi, Zunaira Munir, Hafiza Idrees, Midhat Salman, Sophie Nambot, Antonio Vitobello, Souad Kartti, Oumaima Zarrik, P Dane Witmer, Nara Lygia de Macena Sobreira, Azeddine Ibrahimi, Botond Banfi, Sebastien Moutton, Thomas B Friedman, Sadaf Naz
Variants of human CLDN9 cause mild to profound hearing loss. Human mutation 42 (10) (2021)
Clara Velmans, Anne H O'Donnell-Luria, Emanuela Argilli, Frederic Tran Mau-Them, Antonio Vitobello, Marcus Cy Chan, Jasmine Lee-Fong Fung, Megan Rech, Angela Abicht, Marion Aubert-Mucca, Jason Carmichael, Nicolas Chassaing, Robin Clark, Christine Coubes, Anne Sophie Denommé-Pichon, John Karl de Dios, Eleina England, Benoit Funalot, Marion Gerard, Maries Joseph, Colleen Kennedy, Camille Kumps, Marjolaine Willems, Ingrid M B H van de Laar, Coranne Aarts-Tesselaar, Marjon van Slegtenhorst, Daphné Lehalle, Kathleen Leppig, Lennart Lessmeier, Lynn S Pais, Heather Paterson, Subhadra Ramanathan, Lance H Rodan, Andrea Superti-Furga, Brian Hon-Yin Chung, Elliott Sherr, Christian Netzer, Christian Patrick Schaaf, Florian Erger
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. Journal of medical genetics (2021)
Virginie Carmignac, Sophie Nambot, Daphné Lehalle, Patrick Callier, Stephanie Moortgat, Valérie Benoit, Jamal Ghoumid, Bruno Delobel, Thomas Smol, Caroline Thuillier, Cécile Zordan, Sophie Naudion, Thierry Bienvenu, Renaud Touraine, Francis Ramond, Christiane Zweier, André Reis, Cornelia Kraus, Mathilde Nizon, Benjamin Cogné, Alain Verloes, Frédéric Tran Mau-Them, Arthur Sorlin, Thibaud Jouan, Yannis Duffourd, Emilie Tisserant, Christophe Philippe, Antonio Vitobello, Julien Thevenon, Laurence Faivre, Christel Thauvin-Robinet
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature. Clinical genetics 98 (1) (2020)
Mathilde Becmeur-Lefebvre, Ange-Line Bruel, Emilie Tisserant, Nicolas Bourgon, Yannis Duffourd, Sophie Collardeau-Frachon, Tania Attie-Bitach, Paul Kuentz, Mirna Assoum, Elise Schaefer, Salima El Chehadeh, Maria Cristina Antal, Valérie Kremer, Françoise Girard-Lemaitre, Jean-Louis Mandel, Daphne Lehalle, Sophie Nambot, Nolwenn Jean-Marçais, Nada Houcinat, Sébastien Moutton, Nathalie Marle, Laetita Lambert, Philippe Jonveaux, Bernard Foliguet, Jean-Pierre Mazutti, Dominique Gaillard, Elisabeth Alanio, Celine Poirisier, Anne-Sophie Lebre, Marion Aubert-Lenoir, Francine Arbez-Gindre, Sylvie Odent, Chloé Quélin, Philippe Loget, Melanie Fradin, Marjolaine Willems, Nicole Bigi, Marie-José Perez, Sophie Blesson, Christine Francannet, Anne-Marie Beaufrere, Sophie Patrier-Sallebert, Anne-Marie Guerrot, Alice Goldenberg, Anne-Claire Brehin, James Lespinasse, Renaud Touraine, Yline Capri, Marie-Hélène Saint-Frison, Nicole Laurent, Christophe Philippe, Frederic Tran Mau-Them, Julien Thevenon, Laurence Olivier-Faivre, Christel Thauvin-Robinet, Antonio Vitobello
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations. Journal of medical genetics 58 (6) (2020)
Ange-Line Bruel, Antonio Vitobello, Frédéric Tran Mau-Them, Sophie Nambot, Arthur Sorlin, Anne Sophie Denommé-Pichon, Julian Delanne, Sébastien Moutton, Patrick Callier, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Christel Thauvin-Robinet
Next-generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability. Clinical genetics 98 (5) (2020)
Philippine Garret, Frédéric Ebstein, Geoffroy Delplancq, Blandine Dozieres-Puyravel, Aïcha Boughalem, Stéphane Auvin, Yannis Duffourd, Sandro Klafack, Barbara A Zieba, Sana Mahmoudi, Karun K Singh, Laurence Duplomb, Christel Thauvin-Robinet, Jean-Marc Costa, Elke Krüger, Detlef Trost, Alain Verloes, Laurence Faivre, Antonio Vitobello
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction. Clinical genetics 97 (4) (2020)
Aurore Garde, Jenny Cornaton, Arthur Sorlin, Sébastien Moutton, Claire Nicolas, Christine Juif, David Geneviève, Laurence Perrin, Philippe Khau-Van-Kien, Thomas Smol, Catherine Vincent-Delorme, Bertrand Isidor, Benjamin Cogné, Alexandra Afenjar, Boris Keren, Christine Coubes, Fabienne Prieur, Annick Toutain, Yann Trousselet, Solène Bourgouin, Coralie Gonin-Olympiade, Kim Giraudat, Amélie Piton, Bénédicte Gérard, Sylvie Odent, Fanny Tessier, Lola Lemasson, Solveig Heide, Anne-Claire Gelineau, Catherine Sarret, Anne Miret, Elise Schaefer, Juliette Piard, Rémi Mathevet, Marion Boucon, Ange-Line Bruel, Frederic Tran Mau-Them, Martin Chevarin, Antonio Vitobello, Christophe Philippe, Christel Thauvin-Robinet, Laurence Faivre
Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations. Clinical genetics 99 (3) (2020)
Francois Lecoquierre, Yannis Duffourd, Antonio Vitobello, Ange-Line Bruel, Benoit Urteaga, Christine Coubes, Philippine Garret, Sophie Nambot, Martin Chevarin, Thibaud Jouan, Sebastien Moutton, null null, Frédéric Tran-Mau-Them, Christophe Philippe, Arthur Sorlin, Laurence Olivier-Faivre, Christel Thauvin-Robinet
Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants. Genetics in medicine : official journal of the American College of Medical Genetics 21 (11) (2019)
Philippine Garret, Céline Bris, Vincent Procaccio, Patrizia Amati-Bonneau, Pierre Vabres, Nada Houcinat, Emilie Tisserant, François Feillet, Ange-Line Bruel, Virginie Carmignac, Christophe Philippe, Arthur Sorlin, Frédéric Tran Mau-Them, Antonio Vitobello, Jean-Marc Costa, Aïcha Boughalem, Detlef Trost, Laurence Olivier-Faivre, Christel Thauvin-Robinet, Yannis Duffourd
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light. Human mutation 40 (12) (2019)
Antonio Vitobello, Juliane Perner, Johanna Beil, Jiang Zhu, Alberto Del Río-Espínola, Laurent Morawiec, Magdalena Westphal, Valérie Dubost, Marc Altorfer, Ulrike Naumann, Arne Mueller, Karen Kapur, Mark Borowsky, Lesley A McLaughlin, C Roland Wolf, Michael Schwarz, Jonathan Moggs, Remi Terranova
Drug-induced chromatin accessibility changes associate with sensitivity to liver tumor promotion. Life science alliance 2 (5) (2019)
Maryline Minoux, Sjoerd Holwerda, Antonio Vitobello, Taro Kitazawa, Hubertus Kohler, Michael B Stadler, Filippo M Rijli
Gene bivalency at Polycomb domains regulates cranial neural crest positional identity. Science (New York, N.Y.) 355 (6332) (2017)

Antonio Vitobello.css-eqlu8i{font-size:small;padding-left:4px;} (A Vitobello)

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Antonio Vitobello (A Vitobello)