Ange-Line Bruel (A-L Bruel)

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 43

Top Venues

Clinical genetics

European journal of human genetics : EJHG

Molecular genetics & genomic medicine

Journal of medical genetics

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

Publications

Hyoungjun Ham, Huie Jing, Ian T Lamborn, Megan M Kober, Alexey Koval, Yamina A Berchiche, D Eric Anderson, Kirk M Druey, Judith N Mandl, Bertrand Isidor, Carlos R Ferreira, Alexandra F Freeman, Sundar Ganesan, Meliha Karsak, Peter J Mustillo, Juliana Teo, Zarazuela Zolkipli-Cunningham, Nicolas Chatron, Francois Lecoquierre, Andrew J Oler, Jana Pachlopnik Schmid, Douglas B Kuhns, Xuehua Xu, Fabian H Hauck, Waleed Al Herz, Matias Wagner, Paulien Anna Terhal, Mari Muurinen, Vincent Barlogis, Phillip Cruz, Jeffrey Danielson, Helen Stewart, Petra Loid, Sebastian Rading, Boris Keren, Rolph Pfundt, Kol A Zarember, Katharina Vill, Lorraine Potocki, Kenneth N Olivier, Gaëtan Lesca, Laurence Olivier-Faivre, Melanie Wong, Anne Puel, Janet Chou, Maud Tusseau, Niki M Moutsopoulos, Helen F Matthews, Cas Simons, Ryan J Taft, Ariane G Soldatos, Etienne Masle-Farquhar, Stefania Pittaluga, Robert Brink, Danielle L Fink, Heidi H Kong, Juraj Kabat, Woo Sung Kim, Tatjana Bierhals, Kazuyuki Meguro, Amy P Hsu, Jingwen Gu, Jennifer Stoddard, Benito Banos-Pinero, Maria Slack, Giampaolo Trivellin, Benoit Mazel, Maarja Soomann, Samuel Li, Val J Watts, Constantine A Stratakis, Maria F Rodriguez-Quevedo, Ange-Line Bruel, Marita Lipsanen-Nyman, Paul Saultier, Rashmi Jain, Daphne Lehalle, Daniel Torres, Kathleen E Sullivan, Sébastien Barbarot, Axel Neu, Yannis Duffourd, Morgan N Similuk, Kirsty McWalter, Pierre Blanc, Stephane Bezieau, Tian Jin, Raif S Geha, Jean Laurent Casanova, Outimaija Mäkitie, Christian Kubisch, Patrick Edery, John Chrisodoulou, Ronald N Germain, Christopher C Goodnow, Thomas P Sakmar, Daniel D Billadeau, Sébastien Küry, Vladimir L Katanaev, Yu Zhang, Michael J Lenardo, Helen C Su
Germline mutations in a G protein identify signaling cross-talk in T cells. Science (New York, N.Y.) 385 (6715) (2024)
Valentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, Nathalie Ruiz, null null, Rami Abou Jamra, Alexandra Afenjar, Yves Alembik, Jean-Luc Alessandri, Stéphanie Arpin, Giulia Barcia, Šárka Bendová, Ange-Line Bruel, Perrine Charles, Nicolas Chatron, Maya Chopra, Solène Conrad, Valérie Cormier Daire, Auriane Cospain, Christine Coubes, Juliette Coursimault, Andrée Delahaye-Duriez, Martine Doco, William Dufour, Benjamin Durand, Camille Engel, Laurence Olivier-Faivre, Fanny Ferroul, Mélanie Fradin, Hélène Frenkiel, Carlo Fusco, Livia Garavelli, Aurore Garde, Bénédicte Gerard, David Germanaud, Louise Goujon, Aurélie Gouronc, Emmanuelle Ginglinger, Alice Goldenberg, Miroslava Hancarova, Markéta Havlovicová, Delphine Heron, Bertrand Isidor, Nolwenn Jean Marçais, Boris Keren, Margarete Koch-Hogrebe, Paul Kuentz, Victoria Lamure, Anne-Sophie Lebre, François Lecoquierre, Natacha Lehman, Gaetan Lesca, Stanislas Lyonnet, Delphine Martin, Cyril Mignot, Teresa M Neuhann, Gaël Nicolas, Mathilde Nizon, Florence Petit, Christophe Philippe, Amélie Piton, Marzia Pollazzon, Darina Prchalová, Audrey Putoux, Marlène Rio, Sophie Rondeau, Massimiliano Rossi, Quentin Sabbagh, Pascale Saugier-Veber, Ariane Schmetz, Julie Steffann, Christel Thauvin-Robinet, Annick Toutain, Frédéric Tran Mau Them, Gabriele Trimarchi, Marie Vincent, Markéta Vlčková, Dagmar Wieczorek, Marjolaine Willems, Kevin Yauy, Michaela Zelinová, Alban Ziegler, null null, Boris Chaumette, Bekim Sadikovic, Jean-Louis Mandel, David Geneviève
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders. Molecular genetics & genomic medicine 12 (1) (2024)
Marlène Malbos, Gabriella Vera, Harsh J Sheth, Rhonda E Schnur, Aurélien Juven, Anne-Claire Brehin, Jayesh Sheth, Ajit Gandhi, Faye L Shapiro, Ange-Line Bruel, Florent Marguet, Amber Begtrup, Kristin G Monaghan, Hana Safraou, Marie Brasseur-Daudruy, Frédéric Tran Mau-Them, Yannis Duffourd, Laurence Faivre, Christel Thauvin-Robinet, Paul J Benke, Christophe Philippe
SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond? Clinical genetics (2024)
Valentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, Nathalie Ruiz, null null, Rami Abou Jamra, Alexandra Afenjar, Yves Alembik, Jean-Luc Alessandri, Stéphanie Arpin, Giulia Barcia, Šárka Bendová, Ange-Line Bruel, Perrine Charles, Nicolas Chatron, Maya Chopra, Solène Conrad, Valérie Cormier Daire, Auriane Cospain, Christine Coubes, Juliette Coursimault, Andrée Delahaye-Duriez, Martine Doco, William Dufour, Benjamin Durand, Camille Engel, Laurence Olivier-Faivre, Fanny Ferroul, Mélanie Fradin, Hélène Frenkiel, Carlo Fusco, Livia Garavelli, Aurore Garde, Bénédicte Gerard, David Germanaud, Louise Goujon, Aurélie Gouronc, Emmanuelle Ginglinger, Alice Goldenberg, Miroslava Hancarova, Markéta Havlovicová, Delphine Heron, Bertrand Isidor, Nolwenn Jean Marçais, Boris Keren, Margarete Koch-Hogrebe, Paul Kuentz, Victoria Lamure, Anne-Sophie Lebre, François Lecoquierre, Natacha Lehman, Gaetan Lesca, Stanislas Lyonnet, Delphine Martin, Cyril Mignot, Teresa M Neuhann, Gaël Nicolas, Mathilde Nizon, Florence Petit, Christophe Philippe, Amélie Piton, Marzia Pollazzon, Darina Prchalová, Audrey Putoux, Marlène Rio, Sophie Rondeau, Massimiliano Rossi, Quentin Sabbagh, Pascale Saugier-Veber, Ariane Schmetz, Julie Steffann, Christel Thauvin-Robinet, Annick Toutain, Frédéric Tran Mau Them, Gabriele Trimarchi, Marie Vincent, Markéta Vlčková, Dagmar Wieczorek, Marjolaine Willems, Kevin Yauy, Michaela Zelinová, Alban Ziegler, null null, Boris Chaumette, Bekim Sadikovic, Jean-Louis Mandel, David Geneviève
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders. Molecular genetics & genomic medicine 12 (1) (2024)
Eleonore Viora-Dupont, Françoise Robert, Aline Chassagne, Aurore Pélissier, Stéphanie Staraci, Damien Sanlaville, Patrick Edery, Gaëtan Lesca, Audrey Putoux, Linda Pons, Amandine Cadenes, Amandine Baurand, Caroline Sawka, Geoffrey Bertolone, Myrtille Spetchian, Meriem Yousfi, Dominique Salvi, Elodie Gautier, Antonio Vitobello, Anne Sophie Denommé-Pichon, Ange-Line Bruel, Frédéric Tran Mau Them, Anne Faudet, Boris Keren, Audrey Labalme, Nicolas Chatron, Carine Abel, Sophie Dupuis-Girod, Alice Poisson, Julien Buratti, Cyril Mignot, Alexandra Afenjar, Sandra Whalen, Perrine Charles, Solveig Heide, Linda Mouthon, Sebastien Moutton, Arthur Sorlin, Sophie Nambot, Anne-Sophie Briffaut, Marie-Laure Asensio, Christophe Philippe, Christel Thauvin-Robinet, Delphine Héron, Massimiliano Rossi, Nicolas Meunier-Bellard, Marcela Gargiulo, Christine Peyron, Christine Binquet, Laurence Olivier-Faivre
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study). European journal of human genetics : EJHG (2024)
Marlène Malbos, Emma Wakeling, Thierry Gautier, Odile Boespflug-Tanguy, Louise Busby, Tashunka Taylor-Miller, Benjamin Dudoignon, Plamen Bokov, Jérôme Govin, Margot Grisval, Adélaïde Rega, Marie-Gabrielle Mourot De Rougemont, Marie-Hélène Aubriot-Lorton, Véronique Darmency, Candace Bensignor, Anne Houzel, Frédéric Huet, Anne Sophie Denommé-Pichon, Julian Delanne, Frédéric Tran Mau-Them, Ange-Line Bruel, Hana Safraou, Sophie Nambot, Aurore Garde, Christophe Philippe, Yannis Duffourd, Antonio Vitobello, Laurence Faivre, Christel Thauvin-Robinet
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene. Clinical genetics (2024)
Marlène Malbos, Emma Wakeling, Thierry Gautier, Odile Boespflug-Tanguy, Louise Busby, Tashunka Taylor-Miller, Benjamin Dudoignon, Plamen Bokov, Jérôme Govin, Margot Grisval, Adélaïde Rega, Marie-Gabrielle Mourot De Rougemont, Marie-Hélène Aubriot-Lorton, Véronique Darmency, Candace Bensignor, Anne Houzel, Frédéric Huet, Anne Sophie Denommé-Pichon, Julian Delanne, Frédéric Tran Mau-Them, Ange-Line Bruel, Hana Safraou, Sophie Nambot, Aurore Garde, Christophe Philippe, Yannis Duffourd, Antonio Vitobello, Laurence Faivre, Christel Thauvin-Robinet
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene. Clinical genetics 105 (5) (2024)
Valentin Ruault, Pauline Burger, Johanna Gradels-Hauguel, Nathalie Ruiz, null null, Rami Abou Jamra, Alexandra Afenjar, Yves Alembik, Jean-Luc Alessandri, Stéphanie Arpin, Giulia Barcia, Šárka Bendová, Ange-Line Bruel, Perrine Charles, Nicolas Chatron, Maya Chopra, Solène Conrad, Valérie Cormier Daire, Auriane Cospain, Christine Coubes, Juliette Coursimault, Andrée Delahaye-Duriez, Martine Doco, William Dufour, Benjamin Durand, Camille Engel, Laurence Olivier-Faivre, Fanny Ferroul, Mélanie Fradin, Hélène Frenkiel, Carlo Fusco, Livia Garavelli, Aurore Garde, Bénédicte Gerard, David Germanaud, Louise Goujon, Aurélie Gouronc, Emmanuelle Ginglinger, Alice Goldenberg, Miroslava Hancarova, Markéta Havlovicová, Delphine Heron, Bertrand Isidor, Nolwenn Jean Marçais, Boris Keren, Margarete Koch-Hogrebe, Paul Kuentz, Victoria Lamure, Anne-Sophie Lebre, François Lecoquierre, Natacha Lehman, Gaetan Lesca, Stanislas Lyonnet, Delphine Martin, Cyril Mignot, Teresa M Neuhann, Gaël Nicolas, Mathilde Nizon, Florence Petit, Christophe Philippe, Amélie Piton, Marzia Pollazzon, Darina Prchalová, Audrey Putoux, Marlène Rio, Sophie Rondeau, Massimiliano Rossi, Quentin Sabbagh, Pascale Saugier-Veber, Ariane Schmetz, Julie Steffann, Christel Thauvin-Robinet, Annick Toutain, Frédéric Tran Mau Them, Gabriele Trimarchi, Marie Vincent, Markéta Vlčková, Dagmar Wieczorek, Marjolaine Willems, Kevin Yauy, Michaela Zelinová, Alban Ziegler, null null, Boris Chaumette, Bekim Sadikovic, Jean-Louis Mandel, David Geneviève
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders. Molecular genetics & genomic medicine 12 (1) (2024)
Julien Maraval, Andrée Delahaye-Duriez, Caroline Racine, Ange-Line Bruel, Anne Sophie Denommé-Pichon, Léa Gaudillat, Christel Thauvin-Robinet, Marie Lucain, Véronique Satre, Charles Coutton, null null, Jean-Madelaine de Sainte Agathe, Boris Keren, Laurence Olivier-Faivre
Expanding MNS1 Heterotaxy Phenotype. American journal of medical genetics. Part A (2024)
Silvestre Cuinat, Chloé Quélin, Claire Effray, Christèle Dubourg, Gwenaelle Le Bouar, Anne-Sophie Cabaret-Dufour, Philippe Loget, Maia Proisy, Fanny Sauvestre, Mélie Sarreau, Sophie Martin-Berenguer, Claire Beneteau, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Aurélien Trimouille, Pierre Macé, Sabine Sigaudy, Olga Glazunova, Julia Torrents, Laure Raymond, Marie-Hélène Saint-Frison, Tania Attié-Bitach, Mathilde Becmeur-Lefebvre, Yline Capri, Nicolas Bourgon, Christel Thauvin-Robinet, Frédéric Tran Mau Them, Ange-Line Bruel, Antonio Vitobello, Anne Sophie Denommé-Pichon, Laurence Olivier-Faivre, Anne-Claire Brehin, Alice Goldenberg, Sophie Patrier-Sallebert, Alexandre Perani, Benjamin Dauriat, Sylvie Bourthoumieu, Catherine Yardin, Valentine Marquet, Marion Barnique, Maryse Fiorenza-Gasq, Isabelle Marey, Danielle Tournadre, Raïa Doumit, Frédérique Nugues, Tahsin Stefan Barakat, Francisco Bustos, Sylvie Jaillard, Erika Launay, Laurent Pasquier, Sylvie Odent
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective. Journal of medical genetics 61 (9) (2024)
Marlène Malbos, Emma Wakeling, Thierry Gautier, Odile Boespflug-Tanguy, Louise Busby, Tashunka Taylor-Miller, Benjamin Dudoignon, Plamen Bokov, Jérôme Govin, Margot Grisval, Adélaïde Rega, Marie-Gabrielle Mourot De Rougemont, Marie-Hélène Aubriot-Lorton, Véronique Darmency, Candace Bensignor, Anne Houzel, Frédéric Huet, Anne Sophie Denommé-Pichon, Julian Delanne, Frédéric Tran Mau-Them, Ange-Line Bruel, Hana Safraou, Sophie Nambot, Aurore Garde, Christophe Philippe, Yannis Duffourd, Antonio Vitobello, Laurence Faivre, Christel Thauvin-Robinet
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene. Clinical genetics 105 (5) (2024)
Marlène Malbos, Emma Wakeling, Thierry Gautier, Odile Boespflug-Tanguy, Louise Busby, Tashunka Taylor-Miller, Benjamin Dudoignon, Plamen Bokov, Jérôme Govin, Margot Grisval, Adélaïde Rega, Marie-Gabrielle Mourot De Rougemont, Marie-Hélène Aubriot-Lorton, Véronique Darmency, Candace Bensignor, Anne Houzel, Frédéric Huet, Anne Sophie Denommé-Pichon, Julian Delanne, Frédéric Tran Mau-Them, Ange-Line Bruel, Hana Safraou, Sophie Nambot, Aurore Garde, Christophe Philippe, Yannis Duffourd, Antonio Vitobello, Laurence Faivre, Christel Thauvin-Robinet
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene. Clinical genetics 105 (5) (2024)
Silvestre Cuinat, Chloé Quélin, Claire Effray, Christèle Dubourg, Gwenaelle Le Bouar, Anne-Sophie Cabaret-Dufour, Philippe Loget, Maia Proisy, Fanny Sauvestre, Mélie Sarreau, Sophie Martin-Berenguer, Claire Beneteau, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Aurélien Trimouille, Pierre Macé, Sabine Sigaudy, Olga Glazunova, Julia Torrents, Laure Raymond, Marie-Hélène Saint-Frison, Tania Attié-Bitach, Mathilde Becmeur-Lefebvre, Yline Capri, Nicolas Bourgon, Christel Thauvin-Robinet, Frédéric Tran Mau Them, Ange-Line Bruel, Antonio Vitobello, Anne Sophie Denommé-Pichon, Laurence Olivier-Faivre, Anne-Claire Brehin, Alice Goldenberg, Sophie Patrier-Sallebert, Alexandre Perani, Benjamin Dauriat, Sylvie Bourthoumieu, Catherine Yardin, Valentine Marquet, Marion Barnique, Maryse Fiorenza-Gasq, Isabelle Marey, Danielle Tournadre, Raïa Doumit, Frédérique Nugues, Tahsin Stefan Barakat, Francisco Bustos, Sylvie Jaillard, Erika Launay, Laurent Pasquier, Sylvie Odent
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective. Journal of medical genetics 61 (9) (2024)
Eleonore Viora-Dupont, Françoise Robert, Aline Chassagne, Aurore Pélissier, Stéphanie Staraci, Damien Sanlaville, Patrick Edery, Gaëtan Lesca, Audrey Putoux, Linda Pons, Amandine Cadenes, Amandine Baurand, Caroline Sawka, Geoffrey Bertolone, Myrtille Spetchian, Meriem Yousfi, Dominique Salvi, Elodie Gautier, Antonio Vitobello, Anne Sophie Denommé-Pichon, Ange-Line Bruel, Frédéric Tran Mau Them, Anne Faudet, Boris Keren, Audrey Labalme, Nicolas Chatron, Carine Abel, Sophie Dupuis-Girod, Alice Poisson, Julien Buratti, Cyril Mignot, Alexandra Afenjar, Sandra Whalen, Perrine Charles, Solveig Heide, Linda Mouthon, Sebastien Moutton, Arthur Sorlin, Sophie Nambot, Anne-Sophie Briffaut, Marie-Laure Asensio, Christophe Philippe, Christel Thauvin-Robinet, Delphine Héron, Massimiliano Rossi, Nicolas Meunier-Bellard, Marcela Gargiulo, Christine Peyron, Christine Binquet, Laurence Olivier-Faivre
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study). European journal of human genetics : EJHG 32 (9) (2024)
Silvestre Cuinat, Chloé Quélin, Claire Effray, Christèle Dubourg, Gwenaelle Le Bouar, Anne-Sophie Cabaret-Dufour, Philippe Loget, Maia Proisy, Fanny Sauvestre, Mélie Sarreau, Sophie Martin-Berenguer, Claire Beneteau, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Aurélien Trimouille, Pierre Macé, Sabine Sigaudy, Olga Glazunova, Julia Torrents, Laure Raymond, Marie-Hélène Saint-Frison, Tania Attié-Bitach, Mathilde Becmeur-Lefebvre, Yline Capri, Nicolas Bourgon, Christel Thauvin-Robinet, Frédéric Tran Mau Them, Ange-Line Bruel, Antonio Vitobello, Anne Sophie Denommé-Pichon, Laurence Olivier-Faivre, Anne-Claire Brehin, Alice Goldenberg, Sophie Patrier-Sallebert, Alexandre Perani, Benjamin Dauriat, Sylvie Bourthoumieu, Catherine Yardin, Valentine Marquet, Marion Barnique, Maryse Fiorenza-Gasq, Isabelle Marey, Danielle Tournadre, Raïa Doumit, Frédérique Nugues, Tahsin Stefan Barakat, Francisco Bustos, Sylvie Jaillard, Erika Launay, Laurent Pasquier, Sylvie Odent
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective. Journal of medical genetics (2024)
Marlène Malbos, Emma Wakeling, Thierry Gautier, Odile Boespflug-Tanguy, Louise Busby, Tashunka Taylor-Miller, Benjamin Dudoignon, Plamen Bokov, Jérôme Govin, Margot Grisval, Adélaïde Rega, Marie-Gabrielle Mourot De Rougemont, Marie-Hélène Aubriot-Lorton, Véronique Darmency, Candace Bensignor, Anne Houzel, Frédéric Huet, Anne Sophie Denommé-Pichon, Julian Delanne, Frédéric Tran Mau-Them, Ange-Line Bruel, Hana Safraou, Sophie Nambot, Aurore Garde, Christophe Philippe, Yannis Duffourd, Antonio Vitobello, Laurence Faivre, Christel Thauvin-Robinet
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene. Clinical genetics 105 (5) (2024)
Caroline Racine, Anne Sophie Denommé-Pichon, Camille Engel, Frédéric Tran Mau Them, Ange-Line Bruel, Antonio Vitobello, Hana Safraou, Arthur Sorlin, Sophie Nambot, Julian Delanne, Aurore Garde, Estelle Colin, Sébastien Moutton, Julien Thevenon, Nolwenn Jean-Marçais, Marjolaine Willems, David Geneviève, Lucile Pinson, Laurence Perrin, Fanny Laffargue, James Lespinasse, Elodie Lacaze, Arnaud Molin, Marion Gerard, Laetitia Lambert, Charlotte Benigni, Olivier Patat, null null, Valentin Bourgeois, Charlotte Poe, Martin Chevarin, Victor Couturier, Philippine Garret, Christophe Philippe, Yannis Duffourd, Laurence Olivier-Faivre, Christel Thauvin-Robinet
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases. Journal of medical genetics (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, Frédéric 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)
Natacha Sloboda, Laetitia Lambert, Viorica Ciorna, Ange-Line Bruel, Frédéric Tran Mau-Them, Vladimir Gomola, Jean-Louis Lemelle, Olivier Klein, Marie-Christine Camoin-Schweitzer, Marie Magnavacca, Carole Legagneur, Marie-Laure Ezsto, Céline Bonnet, Christophe Philippe, Bruno Leheup
Atypical phenotype of a patient with Bardet-Biedl syndrome type 4. Molecular genetics & genomic medicine 10 (5) (2022)
Emilie Tisserant, Antonio Vitobello, Davide Callegarin, Simon Verdez, Ange-Line Bruel, Ludwig Serge Aho Glélé, Arthur Sorlin, Eleonore Viora-Dupont, Marina Konyukh, Nathalie Marle, Sophie Nambot, Sebastien Moutton, Caroline Racine, Aurore Garde, Julian Delanne, Frédéric 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)
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, Frédéric 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)
Nicolas Bourgon, Aurore Garde, Ange-Line Bruel, Mathilde Lefebvre, Frédéric 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)
James Taylor, Michael Spiller, Kara Ranguin, Antonio Vitobello, Christophe Philippe, Ange-Line Bruel, Gerarda Cappuccio, Nicola Brunetti-Pierri, Marjolaine Willems, Bertrand Isidor, Kristen Park, Meena Balasubramanian
Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literature. American journal of medical genetics. Part A 188 (5) (2022)
Daphne Lehalle, Ange-Line Bruel, Antonio Vitobello, Anne Sophie Denommé-Pichon, Yannis Duffourd, Mirna Assoum, Jeanne Amiel, Geneviève Baujat, Bettina Bessieres, Stefania Bigoni, Lydie Burglen, Guillaume Captier, Rodolphe Dard, Patrick Edery, Fernanda Fortunato, David Geneviève, Alice Goldenberg, Laurent Guibaud, Delphine Héron, Muriel Holder-Espinasse, Damien Lederer, Fermina Lopez Grondona, Sarah Grotto, Sandrine Marlin, Gwenaël Nadeau, Arnaud Picard, Massimiliano Rossi, Joëlle Roume, Damien Sanlaville, Pascale Saugier-Veber, Stéphane Triau, Maria Irene Valenzuela Palafoll, Clémence Vanlerberghe, Lionel Van Maldergem, Myriam Vezain, Catherine Vincent-Delorme, Einat Zivi, Julien Thevenon, Pierre Vabres, Christel Thauvin-Robinet, Patrick Callier, Laurence Olivier-Faivre
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients. American journal of medical genetics. Part A 188 (7) (2022)
Geeske M van Woerden, Melanie Bos, Charlotte de Konink, Ben Distel, Rossella Avagliano Trezza, Natasha E Shur, Kristin Barañano, Sonal Mahida, Anna Chassevent, Allison Schreiber, Angelika L Erwin, Karen W Gripp, Fatima Rehman, Saskia Brulleman, Róisín McCormack, Gwynna de Geus, Louisa Kalsner, Arthur Sorlin, Ange-Line Bruel, David A Koolen, Melissa K Gabriel, Mari Rossi, David R Fitzpatrick, Andrew O M Wilkie, Eduardo Calpena, David Johnson, Alice Brooks, Marjon van Slegtenhorst, Julie Fleischer, Daniel Groepper, Kristin Lindstrom, A Micheil Innes, Allison Goodwin, Jennifer Humberson, Amanda Noyes, Katherine G Langley, Aida Telegrafi, Amy Blevins, Jessica Hoffman, Maria J Guillen Sacoto, Jane Juusola, Kristin G Monaghan, Sumit Punj, Marleen Simon, Rolph Pfundt, Ype Elgersma, Tjitske Kleefstra
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development. Human mutation 42 (4) (2021)
Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, Maria J Guillen Sacoto, Francisca Milan Zamora, Yue Si, Rachel Rabin, John Pappas, Deborah L Renaud, Natalie S Hauser, Evan Reid, Patricia Blanchet, Nichola Foulds, Abhijit Dixit, Richard Fisher, Ruth Armstrong, Bertrand Isidor, Benjamin Cogne, Samantha A Schrier Vergano, Serwet Demirdas, Natalie Dykzeul, Julie S Cohen, Katheryn Grand, Dayna Morel, Anne Slavotinek, Hessa F Albassam, Swati Naik, John Dean, Nicola Ragge, Costa Cinzia, Maria Giovanna Tedesco, Rachel E Harrison, Arjan Bouman, Emily Palen, Thomas D Challman, Marjolein H Willemsen, Julie Vogt, Christopher M Cunniff, Katherine L Bergstrom, Jagdeep S Walia, Ange-Line Bruel, Usha Kini, Fowzan Sami Alkuraya, Valerie Slegesky, Naomi Meeks, Paula Girotto, Diana Johnson, null null, Ruth Newbury-Ecob, Charlotte W Ockeloen, Paolo Prontera, Sally Ann Lynch, Dong Li, John M Graham, Meena Balasubramanian
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3. American journal of medical genetics. Part A 185 (11) (2021)
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)
Quentin Thomas, Antonio Vitobello, Frederic Tran Mau-Them, Yannis Duffourd, Agnès Fromont, Maurice Giroud, Benoit Daubail, Agnès Jacquin-Piques, Marie Hervieu-Begue, Thibault Moreau, Guy-Victor Osseby, Philippine Garret, Sophie Nambot, Julian Delanne, Ange-Line Bruel, Arthur Sorlin, Patrick Callier, Anne-Sophie Denomme-Pichon, Laurence Olivier-Faivre, Yannick Béjot, Christophe Philippe, Christel Thauvin-Robinet, Sébastien Moutton
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics. Journal of medical genetics (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)
Leila Ghesh, Thomas Besnard, Mathilde Nizon, Eva Trochu, Gaëlle Landeau-Trottier, Flora Breheret, Christel Thauvin-Robinet, Ange-Line Bruel, Paul Kuentz, Christine Coubes, Laurence Cuisset, Cyril Mignot, Boris Keren, Stéphane Bézieau, Benjamin Cogné
Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorder. Human mutation 42 (5) (2021)
Auriane Cospain, Elise Schaefer, Marie Faoucher, Christèle Dubourg, Wilfrid Carré, Varoona Bizaoui, Jessica Assoumani, Lionel Van Maldergem, Amélie Piton, Bénédicte Gérard, Frédéric Tran Mau-Them, Ange-Line Bruel, Laurence Faivre, Florence Demurger, Laurent Pasquier, Sylvie Odent, Mélanie Fradin, Alinoë Lavillaureix
Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype. Clinical genetics 99 (5) (2021)
Frederic Tran Mau-Them, Yannis Duffourd, Antonio Vitobello, Ange-Line Bruel, Anne-Sophie Denommé-Pichon, Sophie Nambot, Julian Delanne, Sebastien Moutton, Arthur Sorlin, null null, Victor Couturier, Valentin Bourgeois, Martin Chevarin, Charlotte Poe, Anne-Laure Mosca-Boidron, Patrick Callier, Hana Safraou, Laurence Olivier-Faivre, Christophe Philippe, Christel Thauvin-Robinet
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases. Molecular genetics & genomic medicine (2021)
Alison Foster, Basile Chalot, Thalia Antoniadi, Elise Schaefer, Rebecca Keelagher, Gavin Ryan, Quentin Thomas, Christophe Philippe, Ange-Line Bruel, Arthur Sorlin, Christel Thauvin-Robinet, Marc Bardou, Maxime Luu, Veronique Quenardelle, Valerie Wolff, Jessica Woodley, Pierre Vabres, Derek Lim, Rebecca Igbokwe, Annie Joseph, Harriet Walker, Andrea Jester, Jonathan Ellenbogen, Diana Johnson, Bethanie Rooke, Celia Moss, Trevor Cole, Laurence Faivre
Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications. Clinical genetics 98 (1) (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)
Aude Tessier, Lucile Boutaud, Ange-Line Bruel, Christel Thauvin-Robinet, Philippe Roth, Valérie Malan, Marie-Paule Beaujard, Amale Achaiaa, Judite de Oliveira, Julie Steffann, Ferechte Encha-Razavi, Laurence Faivre, Bettina Bessières, Tania Attie-Bitach
Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype? Clinical genetics 98 (6) (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)
A T G Chiu, S L C Pei, C C Y Mak, G K C Leung, M H C Yu, S L Lee, M Vreeburg, R Pfundt, I van der Burgt, T Kleefstra, T M-T Frederic, Sophie Nambot, L Faivre, Ange-Line Bruel, M Rossi, B Isidor, Sébastien Küry, B Cogne, T Besnard, M Willems, M R F Reijnders, Brian Hon-Yin Chung
Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion. Clinical genetics 93 (4) (2018)
Ange-Line Bruel, Julien Thevenon, F Huet, N Jean-Marcais, S Odent, C Dubourg, D Lehalle, F Tran Mau-Them, C Philippe, S Moutton, N Houcinat, S Gay, L Guibaud, Y Duffourd, J-B Rivière, L Faivre, C Thauvin-Robinet
Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly. Clinical genetics 94 (1) (2018)
Sebastien Moutton, Ange-Line Bruel, M Assoum, M Chevarin, E Sarrazin, C Goizet, A-M Guerrot, A Charollais, P Charles, D Heron, A Faudet, N Houcinat, A Vitobello, F Tran-Mau-Them, C Philippe, Y Duffourd, C Thauvin-Robinet, L Faivre
Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid features. Clinical genetics 93 (6) (2018)
Ange-Line Bruel, Jonathan Lévy, N Elenga, A Defo, A Favre, H Lucron, Y Capri, L Perrin, S Passemard, Y Vial, A-C Tabet, L Faivre, C Thauvin-Robinet, Alain Verloes
INTU-related oral-facial-digital syndrome type VI: A confirmatory report. Clinical genetics 93 (6) (2018)

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Ange-Line Bruel (A-L Bruel)