Florence Petit

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 40

Top Venues

Nature communications

Human mutation

Clinical genetics

Genetics in medicine : official journal of the American College of Medical Genetics

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

Publications

Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka E L M Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M Butler, Michael J Lyons, Claudia M B Carvalho, Chaofan Zhang, James R. Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane Mccormick, Mary K Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Felicia Operto, Federico Zara, Karin Writzl, Ales Maver, Maria K Haanpää, Pia Pohjola, Harri Arikka, Christian Iseli, Nicolas Guex, Alexandre Reymond
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. medRxiv : the preprint server for health sciences (2024)
Manon Baudic, Hiroshige Murata, Fernanda M Bosada, Uirá Souto Melo, Takanori Aizawa, Pierre Lindenbaum, Lieve E van der Maarel, Amaury Guedon, Estelle Baron, Enora Fremy, Adrien Foucal, Taisuke Ishikawa, Hiroya Ushinohama, Sean Joseph Jurgens, Seung Hoan Choi, Florence Kyndt, Solena Le Scouarnec, Vincent Wakker, Aurélie Thollet, Annabelle Rajalu, Tadashi Takaki, Seiko Ohno, Wataru Shimizu, Minoru Horie, Takeshi Kimura, Patrick T Ellinor, Florence Petit, Yves Dulac, Paul Bru, Anne Boland, Jean-François Deleuze, Richard Redon, Hervé Le Marec, Thierry Le Tourneau, Jean-Baptiste Gourraud, Yoshinori Yoshida, Naomasa Makita, Claude Vieyres, Takeru Makiyama, Stephan Mundlos, Vincent M Christoffels, Vincent Probst, Jean-Jacques Schott, Julien Barc
TAD boundary deletion causes PITX2-related cardiac electrical and structural defects. Nature communications 15 (1) (2024)
Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka E L M Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M Butler, Michael J Lyons, Claudia M B Carvalho, Chaofan Zhang, James R. Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane Mccormick, Mary K Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Felicia Operto, Federico Zara, Karin Writzl, Ales Maver, Maria K Haanpää, Pia Pohjola, Harri Arikka, Christian Iseli, Nicolas Guex, Alexandre Reymond
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. medRxiv : the preprint server for health sciences (2024)
Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka E L M Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M Butler, Michael J Lyons, Claudia M B Carvalho, Chaofan Zhang, James R. Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane Mccormick, Mary K Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Felicia Operto, Federico Zara, Karin Writzl, Ales Maver, Maria K Haanpää, Pia Pohjola, Harri Arikka, Christian Iseli, Nicolas Guex, Alexandre Reymond
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. medRxiv : the preprint server for health sciences (2024)
Manon Baudic, Hiroshige Murata, Fernanda M Bosada, Uirá Souto Melo, Takanori Aizawa, Pierre Lindenbaum, Lieve E van der Maarel, Amaury Guedon, Estelle Baron, Enora Fremy, Adrien Foucal, Taisuke Ishikawa, Hiroya Ushinohama, Sean Joseph Jurgens, Seung Hoan Choi, Florence Kyndt, Solena Le Scouarnec, Vincent Wakker, Aurélie Thollet, Annabelle Rajalu, Tadashi Takaki, Seiko Ohno, Wataru Shimizu, Minoru Horie, Takeshi Kimura, Patrick T Ellinor, Florence Petit, Yves Dulac, Paul Bru, Anne Boland, Jean-François Deleuze, Richard Redon, Hervé Le Marec, Thierry Le Tourneau, Jean-Baptiste Gourraud, Yoshinori Yoshida, Naomasa Makita, Claude Vieyres, Takeru Makiyama, Stephan Mundlos, Vincent M Christoffels, Vincent Probst, Jean-Jacques Schott, Julien Barc
TAD boundary deletion causes PITX2-related cardiac electrical and structural defects. Nature communications 15 (1) (2024)
Manon Baudic, Hiroshige Murata, Fernanda M Bosada, Uirá Souto Melo, Takanori Aizawa, Pierre Lindenbaum, Lieve E van der Maarel, Amaury Guedon, Estelle Baron, Enora Fremy, Adrien Foucal, Taisuke Ishikawa, Hiroya Ushinohama, Sean Joseph Jurgens, Seung Hoan Choi, Florence Kyndt, Solena Le Scouarnec, Vincent Wakker, Aurélie Thollet, Annabelle Rajalu, Tadashi Takaki, Seiko Ohno, Wataru Shimizu, Minoru Horie, Takeshi Kimura, Patrick T Ellinor, Florence Petit, Yves Dulac, Paul Bru, Anne Boland, Jean-François Deleuze, Richard Redon, Hervé Le Marec, Thierry Le Tourneau, Jean-Baptiste Gourraud, Yoshinori Yoshida, Naomasa Makita, Claude Vieyres, Takeru Makiyama, Stephan Mundlos, Vincent M Christoffels, Vincent Probst, Jean-Jacques Schott, Julien Barc
TAD boundary deletion causes PITX2-related cardiac electrical and structural defects. Nature communications 15 (1) (2024)
Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco, Fabio Sirchia, Lydia Turban, Susanna Schubert, Rami Abou Jamra, Jan-Ulrich Schlump, Desiree DeMille, Pinar Bayrak-Toydemir, Gary Rex Nelson, Kristen Nicole Wong, Laura Duncan, Mackenzie Mosera, Christian Gilissen, Lisenka E L M Vissers, Rolph Pfundt, Rogier Kersseboom, Hilde Yttervik, Geir Åsmund Myge Hansen, Marie Falkenberg Smeland, Kameryn M Butler, Michael J Lyons, Claudia M B Carvalho, Chaofan Zhang, James R. Lupski, Lorraine Potocki, Leticia Flores-Gallegos, Rodrigo Morales-Toquero, Florence Petit, Binnaz Yalcin, Annabelle Tuttle, Houda Zghal Elloumi, Lane Mccormick, Mary K Kukolich, Oliver Klaas, Judit Horvath, Marcello Scala, Michele Iacomino, Francesca Felicia Operto, Federico Zara, Karin Writzl, Ales Maver, Maria K Haanpää, Pia Pohjola, Harri Arikka, Christian Iseli, Nicolas Guex, Alexandre Reymond
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. medRxiv : the preprint server for health sciences (2024)
Manon Baudic, Hiroshige Murata, Fernanda M Bosada, Uirá Souto Melo, Takanori Aizawa, Pierre Lindenbaum, Lieve E van der Maarel, Amaury Guedon, Estelle Baron, Enora Fremy, Adrien Foucal, Taisuke Ishikawa, Hiroya Ushinohama, Sean Joseph Jurgens, Seung Hoan Choi, Florence Kyndt, Solena Le Scouarnec, Vincent Wakker, Aurélie Thollet, Annabelle Rajalu, Tadashi Takaki, Seiko Ohno, Wataru Shimizu, Minoru Horie, Takeshi Kimura, Patrick T Ellinor, Florence Petit, Yves Dulac, Paul Bru, Anne Boland, Jean-François Deleuze, Richard Redon, Hervé Le Marec, Thierry Le Tourneau, Jean-Baptiste Gourraud, Yoshinori Yoshida, Naomasa Makita, Claude Vieyres, Takeru Makiyama, Stephan Mundlos, Vincent M Christoffels, Vincent Probst, Jean-Jacques Schott, Julien Barc
TAD boundary deletion causes PITX2-related cardiac electrical and structural defects. Nature communications 15 (1) (2024)
Laurence Faivre, Jean-Charles Crépin, Manon Reda, Sophie Nambot, Virginie Carmignac, Caroline Abadie, Tristan Mirault, Cécile Faure-Conter, Juliette Mazereeuw-Hautier, Aude Maza, Eve Puzenat, Marie-Agnès Collonge-Rame, Anne-Claire Bursztejn, Christophe Philippe, Christel Thauvin-Robinet, Martin Chevarin, Claire Abasq-Thomas, Jeanne Amiel, Stéphanie Arpin, Sébastien Barbarot, Geneviève Baujat, Didier Bessis, Emmanuelle Bourrat, Odile Boute, Nicolas Chassaing, Christine Coubes, Benedicte Demeer, Patrick Edery, Salima El Chehadeh, Alice Goldenberg, Smail Hadj-Rabia, Damien Haye, Bertrand Isidor, Marie-Line Jacquemont, Philippe Khau Van Kien, Didier Lacombe, Daphné Lehalle, Laetitia Lambert, Ludovic Martin, Annabel Maruani, Fanny Morice-Picard, Florence Petit, Alice Phan, Lucile Pinson, Massimiliano Rossi, Renaud Touraine, Clemence Vanlerberghe, Marie Vincent, Catherine Vincent-Delorme, Sandra Whalen, Marjolaine Willems, Nathalie Marle, Virginie Verkarre, Christine Devalland, Mojgan Devouassoux-Shisheboran, Marine Abad, Nathalie Rioux-Leclercq, Bertille Bonniaud, Yannis Duffourd, Jehanne Martel, Christine Binquet, Paul Kuentz, Pierre Vabres
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations. Clinical genetics (2023)
Florence Riant, Lydie Burglen, Michaelle Corpechot, Julien Robert, Alexandra Durr, Guilhem Solé, Florence Petit, Cécile Freihuber, Olivier De Marco, Catherine Sarret, Giovanni Castelnovo, Françoise Devillard, Alexandra Afenjar, Bénédicte Héron, Elisabeth Tournier Lasserve
Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxia. Clinical genetics (2023)
Guillaume Jouret, Solveig Heide, Arthur Sorlin, Laurence Faivre, Sandra Chantot-Bastaraud, Claire Beneteau, Marie Denis-Musquer, Peter D Turnpenny, Charles Coutton, Gaëlle Vieville, Julien Thevenon, Austin Larson, Florence Petit, Elise Boudry, Thomas Smol, Bruno Delobel, Bénédicte Duban-Bedu, Chiara Fallerini, Francesca Mari, Caterina Lo Rizzo, Alessandra Renieri, Jean-Hubert Caberg, Anne Sophie Denommé-Pichon, Frédéric Tran Mau-Them, Isabelle Maystadt, Thomas Courtin, Boris Keren, Linda Mouthon, Perrine Charles, Silvestre Cuinat, Bertrand Isidor, Philippe Theis, Christian Müller, Marizela Kulisic, Seval Türkmen, Daniel Stieber, Dominique Bourgeois, Emmanuel Scalais, Barbara Klink
Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study. Clinical genetics 102 (2) (2022)
Julie Leclerc, Marie Beaumont, Roseline Vibert, Stéphane Pinson, Catherine Vermaut, Cathy Flament, Tonio Lovecchio, Lucie Delattre, Christophe Demay, Florence Coulet, Erell Guillerm, Nadim Hamzaoui, Patrick R Benusiglio, Afane Brahimi, François Cornelis, Hélène Delhomelle, Sandra Fert-Ferrer, Benjamin Philippe Fournier, Alain Hovnanian, Clémentine Legrand, Alain Lortholary, David Malka, Florence Petit, Jean-Christophe Saurin, Sophie Lejeune, Chrystelle Colas, Marie-Pierre Buisine
AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer. Genes, chromosomes & cancer 62 (4) (2022)
Delfina M Romero, Karine Poirier, Richard Belvindrah, Imane Moutkine, Anne Houllier, Anne-Gaëlle LeMoing, Florence Petit, Anne Boland-Auge, Stephan C Collins, Mariano Soiza-Reilly, Binnaz Yalcin, Jamel Chelly, Jean François Deleuze, Nadia Bahi-Buisson, Fiona Francis
Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development. Nature communications 13 (1) (2022)
Julie Leclerc, Marie Beaumont, Roseline Vibert, Stéphane Pinson, Catherine Vermaut, Cathy Flament, Tonio Lovecchio, Lucie Delattre, Christophe Demay, Florence Coulet, Erell Guillerm, Nadim Hamzaoui, Patrick R Benusiglio, Afane Brahimi, François Cornelis, Hélène Delhomelle, Sandra Fert-Ferrer, Benjamin Philippe Fournier, Alain Hovnanian, Clémentine Legrand, Alain Lortholary, David Malka, Florence Petit, Jean-Christophe Saurin, Sophie Lejeune, Chrystelle Colas, Marie-Pierre Buisine
AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer. Genes, chromosomes & cancer 62 (4) (2022)
Julie Leclerc, Marie Beaumont, Roseline Vibert, Stéphane Pinson, Catherine Vermaut, Cathy Flament, Tonio Lovecchio, Lucie Delattre, Christophe Demay, Florence Coulet, Erell Guillerm, Nadim Hamzaoui, Patrick R Benusiglio, Afane Brahimi, François Cornelis, Hélène Delhomelle, Sandra Fert-Ferrer, Benjamin Philippe Fournier, Alain Hovnanian, Clémentine Legrand, Alain Lortholary, David Malka, Florence Petit, Jean-Christophe Saurin, Sophie Lejeune, Chrystelle Colas, Marie-Pierre Buisine
AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer. Genes, chromosomes & cancer (2022)
Julie Leclerc, Marie Beaumont, Roseline Vibert, Stéphane Pinson, Catherine Vermaut, Cathy Flament, Tonio Lovecchio, Lucie Delattre, Christophe Demay, Florence Coulet, Erell Guillerm, Nadim Hamzaoui, Patrick R Benusiglio, Afane Brahimi, François Cornelis, Hélène Delhomelle, Sandra Fert-Ferrer, Benjamin Philippe Fournier, Alain Hovnanian, Clémentine Legrand, Alain Lortholary, David Malka, Florence Petit, Jean-Christophe Saurin, Sophie Lejeune, Chrystelle Colas, Marie-Pierre Buisine
AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer. Genes, chromosomes & cancer 62 (4) (2022)
Gabriel Morin, Caroline Degrugillier-Chopinet, Marie Vincent, Antoine Fraissenon, Hélène Aubert, Célia Chapelle, Clément Hoguin, François Dubos, Benoit Catteau, Florence Petit, Aurélie Mezel, Olivia Domanski, Guillaume Herbreteau, Marie Alesandrini, Nathalie Boddaert, Nathalie Boutry, Christine Broissand, Tianxiang Kevin Han, Fabrice Branle, Sabine Sarnacki, Thomas Blanc, Laurent Guibaud, Guillaume Canaud
Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib. The Journal of experimental medicine 219 (3) (2022)
Nancy Vegas, Zeynep Demir, Christopher T Gordon, Sylvain Breton, Vanessa L Romanelli Tavares, Hugo Moisset, Roseli Zechi-Ceide, Nancy M Kokitsu-Nakata, Yasuhiro Kido, Sandrine Marlin, Souad Gherbi Halem, Ilse Meerschaut, Bert Callewaert, Brian Hon-Yin Chung, Nicole Revencu, Daphné Lehalle, Florence Petit, Evan J Propst, Blake C Papsin, John H Phillips, Linda Jakobsen, Pauline Le Tanno, Julien Thévenon, Julie McGaughran, Erica H Gerkes, Chiara Leoni, Peter Kroisel, Tiong Y Tan, Alex Henderson, Paulien Terhal, Lina Basel-Salmon, Adila Alkindy, Susan M White, Maria R Passos-Bueno, Véronique Pingault, Loïc De Pontual, Jeanne Amiel
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases. Human mutation 43 (5) (2022)
Ilaria Parenti, Daphne 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)
Endika Haro, Florence Petit, Charmaine U Pira, Conor D Spady, Sara Lucas-Toca, Lauren I Yorozuya, Austin L Gray, Fabienne Escande, Anne-Sophie Jourdain, Andy Nguyen, Florence Fellmann, Jean-Marc Good, Christine Francannet, Sylvie Manouvrier-Hanu, Marian A Ros, Kerby C Oberg
Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity. Nature communications 12 (1) (2021)
Aki Ushiki, Yichi Zhang, Chenling Xiong, Jingjing Zhao, Ilias Georgakopoulos-Soares, Lauren Kane, Kirsty Jamieson, Michael J Bamshad, Deborah A Nickerson, null null, Yin Shen, Laura A Lettice, Elizabeth Lemos Silveira-Lucas, Florence Petit, Nadav Ahituv
Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia. Nature communications 12 (1) (2021)
Aurore Garde, Laurent Guibaud, Alice Goldenberg, Florence Petit, Rodolphe Dard, Joelle Roume, Juliette Mazereeuw-Hautier, Nicolas Chassaing, Didier Lacombe, Fanny Morice-Picard, Annick Toutain, Stéphanie Arpin, Olivia Boccara, Renaud Touraine, Patricia Blanchet, Christine Coubes, Marjolaine Willems, Lucile Pinson, Philippe Khau Van Kien, Christine Chiaverini, Fabienne Giuliano, Jean-Luc Alessandri, Michèle Mathieu-Dramard, Gilles Morin, Anne-Claire Bursztejn, Cyril Mignot, Diane Doummar, Frederico Di Rocco, Jenny Cornaton, Claire Nicolas, Elodie Gautier, Maxime Luu, Marc Bardou, Arthur Sorlin, Christophe Philippe, Patrick Edery, Massimiliano Rossi, Virginie Carmignac, Christel Thauvin-Robinet, Pierre Vabres, Laurence Faivre
Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials. Clinical genetics 99 (5) (2021)
Hui Liu, Anna-Gaëlle Giguet-Valard, Thomas Simonet, Emmanuelle Szenker-Ravi, Laetitia Lambert, Catherine Vincent-Delorme, Sophie Scheidecker, Mélanie Fradin, Fanny Morice-Picard, Sophie Naudion, Viorica Ciorna-Monferrato, Estelle Colin, Florence Fellmann, Sophie Blesson, Pierre-Simon Jouk, Christine Francannet, Florence Petit, Sébastien Moutton, Daphné Lehalle, Nicolas Chassaing, Loubna El Zein, Anne Bazin, Claire Bénéteau, Tania Attié-Bitach, Sylvie M Hanu, Marie-Pierre Brechard, Jean Chiesa, Laurent Pasquier, Caroline Rooryck-Thambo, Lionel Van Maldergem, Christelle Cabrol, Salima El Chehadeh, Alexandre Vasiljevic, Bertrand Isidor, Carine Abel, Julien Thevenon, Sylvie Di Filippo, Adeline Vigouroux-Castera, Jocelyne Attia, Chloé Quelin, Sylvie Odent, Juliette Piard, Fabienne Giuliano, Audrey Putoux, Philippe Khau Van Kien, Catherine Yardin, Renaud Touraine, Bruno Reversade, Patrice Bouvagnet
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy. Human mutation 41 (12) (2020)
Simon Boussion, Fabienne Escande, Anne-Sophie Jourdain, Thomas Smol, Perrine Brunelle, Céline Duhamel, Yves Alembik, Tania Attie-Bitach, Geneviève Baujat, Anne Bazin, Maryse Bonnière, Philippe Carassou, Dominique Carles, Louise Devisme, Cyril Goizet, Alice Goldenberg, Sarah Grotto, Agnès Guichet, Pierre-Simon Jouk, Laurence Loeuillet, Charlotte Mechler, Caroline Michot, Fanny Pelluard, Audrey Putoux, Sandra Whalen, Jamal Ghoumid, Sylvie Manouvrier-Hanu, Florence Petit
TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A. Human mutation 41 (7) (2020)
Marine Tessarech, Marie-Claire Malinge, Virginie Carmignac, Pierre Vabres, Florence Petit
Limb overgrowth associated with a mosaic TSC2 second-hit in tuberous sclerosis complex. American journal of medical genetics. Part A 182 (11) (2020)
Godelieve Morel, Céline Duhamel, Simon Boussion, Frédéric Frénois, Gaetan Lesca, Nicolas Chatron, Audrey Labalme, Damien Sanlaville, Patrick Edery, Julien Thevenon, Laurence Faivre, Alice Fassier, Olivier Prodhomme, Fabienne Escande, Sylvie Manouvrier, Florence Petit, David Geneviève, Massimiliano Rossi
Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability. Human mutation 41 (9) (2020)
François Lecoquierre, Anne-Claire Brehin, Sophie Coutant, Juliette Coursimault, Anne Bazin, Wilfrid Finck, Guillaume Benoist, Marianne Begorre, Claire Beneteau, Daniel Cailliez, Pierre Chenal, Mirjam De Jong, Sophie Degré, Louise Devisme, Christine Francannet, Bénédicte Gérard, Corinne Jeanne, Madeleine Joubert, Hubert Journel, Hélène Laurichesse Delmas, Valérie Layet, Alain Liquier, Raphaele Mangione, Sophie Patrier, Fanny Pelluard, Florence Petit, Nadia Tillouche, Conny van Ravenswaaij-Arts, Thierry Frebourg, Pascale Saugier-Veber, Nicolas Gruchy, Gaël Nicolas, Marion Gerard
Exome sequencing identifies the first genetic determinants of sirenomelia in humans. Human mutation 41 (5) (2020)
Sophie Nambot, Laurence Faivre, Ghayda Mirzaa, Julien Thevenon, Ange-Line Bruel, Anne-Laure Mosca-Boidron, Alice Masurel-Paulet, Alice Goldenberg, Nathalie Le Meur, Aude Charollais, Cyril Mignot, Florence Petit, Massimiliano Rossi, Julia Metreau, Valérie Layet, Daniel Amram, Odile Boute-Bénéjean, Elizabeth Bhoj, Margot A Cousin, Teresa M Kruisselbrink, Brendan C Lanpher, Eric W Klee, Elise Fiala, Dorothy K Grange, Wendy S Meschino, Susan M Hiatt, Gregory M Cooper, Hilde Olivié, Wendy E Smith, Meghan Dumas, Anna Lehman, null null, Cara Inglese, Mathilde Nizon, Renzo Guerrini, Annalisa Vetro, Eitan S Kaplan, Dolores Miramar, Julien Van Gils, Patricia Fergelot, Olaf Bodamer, Johanna C Herkert, Sander Pajusalu, Katrin Õunap, James J Filiano, Thomas Smol, Amelie Piton, Bénédicte Gérard, Sandra Chantot-Bastaraud, Thierry Bienvenu, Dong Li, Jane Juusola, Koen Devriendt, Frederic Bilan, Charlotte Poé, Martin Chevarin, Thibaud Jouan, Emilie Tisserant, Jean-Baptiste Rivière, Frédéric Tran Mau-Them, Christophe Philippe, Yannis Duffourd, William B Dobyns, Robert F Hevner, Christel Thauvin-Robinet
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature. European journal of human genetics : EJHG 28 (6) (2020)
Jan Hendrik Niemann, Chen Du, Susanne Morlot, Gunnar Schmidt, Bernd Auber, Beate Kaune, Gudrun Göhring, Tim Ripperger, Brigitte Schlegelberger, Winfried Hofmann, Thomas Smol, Emilie Ait-Yahya, Anna Raimbault, Anne Lambilliotte, Florence Petit, Doris Steinemann
De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia. Clinical genetics 98 (4) (2020)
Lena-Luise Becker, Hormos Salimi Dafsari, Jens Schallner, Dalia Abdin, Michael Seifert, Florence Petit, Thomas Smol, Levinus Bok, Lance Rodan, Ingrid Krapels, Stephanie Spranger, Bernhard Weschke, Katherine Johnson, Volker Straub, Angela M Kaindl, Nataliya Di Donato, Maja von der Hagen, Sebahattin Cirak
The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification. Journal of human genetics 65 (11) (2020)
Laura Mary, Kirsley Chennen, Corinne Stoetzel, Manuela Antin, Anne Leuvrey, Elsa Nourisson, Elisabeth Alanio-Detton, Maria C Antal, Tania Attié-Bitach, Patrice Bouvagnet, Raymonde Bouvier, Annie Buenerd, Alix Clémenson, Louise Devisme, Bernard Gasser, Brigitte Gilbert-Dussardier, Fabien Guimiot, Philippe Khau Van Kien, Brigitte Leroy, Philippe Loget, Jelena Martinovic, Fanny Pelluard, Marie-Josée Perez, Florence Petit, Lucile Pinson, Caroline Rooryck-Thambo, Olivier Poch, Hélène Dollfus, Elise Schaefer, Jean Muller
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes. Clinical genetics 95 (3) (2020)
Sarah Delbaere, Tibbe Dhooge, Delfien Syx, Florence Petit, Nathalie Goemans, Anne Destrée, Olivier M Vanakker, Teddy Jégu, Sofie Symoens, Fransiska Malfait
Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix. Genetics in medicine : official journal of the American College of Medical Genetics 22 (1) (2019)
Henri Margot, Guilaine Boursier, Claire Duflos, Elodie Sanchez, Jeanne Amiel, Jean-Christophe Andrau, Stéphanie Arpin, Elise Brischoux-Boucher, Odile Boute, Lydie Burglen, Charlotte Caille, Yline Capri, Patrick Collignon, Solène Conrad, Valérie Cormier-Daire, Geoffroy Delplancq, Klaus Dieterich, Hélène Dollfus, Mélanie Fradin, Laurence Faivre, Helder Fernandes, Christine Francannet, Vincent Gatinois, Marion Gerard, Alice Goldenberg, Jamal Ghoumid, Sarah Grotto, Anne-Marie Guerrot, Agnès Guichet, Bertrand Isidor, Marie-Line Jacquemont, Sophie Julia, Philippe Khau Van Kien, Marine Legendre, K H Le Quan Sang, Bruno Leheup, Stanislas Lyonnet, Virginie Magry, Sylvie Manouvrier, Dominique Martin, Godelieve Morel, Arnold Munnich, Sophie Naudion, Sylvie Odent, Laurence Perrin, Florence Petit, Nicole Philip, Marlène Rio, Julie Robbe, Massimiliano Rossi, Elisabeth Sarrazin, Annick Toutain, Julien Van Gils, Gabriella Vera, Alain Verloes, Sacha Weber, Sandra Whalen, Damien Sanlaville, Didier Lacombe, Nathalie Aladjidi, David Geneviève
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals. Genetics in medicine : official journal of the American College of Medical Genetics 22 (1) (2019)
Perrine Brunelle, Anne-Sophie Jourdain, Fabienne Escande, Jelena Martinovic, Juliette Dupont, Tiffany Busa, Anne Moncla, Frédéric Frénois, Morgane Stichelbout, Sylvie Manouvrier-Hanu, Florence Petit
WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature. American journal of medical genetics. Part A 179 (7) (2019)
Anne-Sophie Jourdain, Florence Petit, Marie-Françoise Odou, Malika Balduyck, Perrine Brunelle, William Dufour, Simon Boussion, Elise Brischoux-Boucher, Cindy Colson, Anne Dieux, Marion Gérard, Jamal Ghoumid, Fabienne Giuliano, Alice Goldenberg, Philippe Khau Van Kien, Daphné Lehalle, Gilles Morin, Sébastien Moutton, Thomas Smol, Clémence Vanlerberghe, Sylvie Manouvrier-Hanu, Fabienne Escande
Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations. Human mutation 41 (1) (2019)
Ilse Meerschaut, Shana De Coninck, Wouter Steyaert, Angela Barnicoat, Allan Bayat, Francesco Benedicenti, Siren Berland, Edward M Blair, Jeroen Breckpot, Anna de Burca, Anne Destrée, Sixto García-Miñaúr, Andrew J Green, Bernadette C Hanna, Kathelijn Keymolen, Marije Koopmans, Damien Lederer, Sally Ann Lynch, Cheryl Longman, Sally Ann Lynch, Alison M Male, Fiona McKenzie, Isabelle Migeotte, Ercan Mihci, Banu Nur, Florence Petit, Juliette Piard, Frank S Plasschaert, Anita Rauch, Pascale Ribaï, Iratxe Salcedo Pacheco, Franco Stanzial, Irene Stolte-Dijkstra, Irene Valenzuela, Vinod Varghese, Pradeep C Vasudevan, Emma L Wakeling, Carina Wallgren-Pettersson, Paul Coucke, Anne De Paepe, Daniël De Wolf, Sofie Symoens, Bert Callewaert
A clinical scoring system for congenital contractural arachnodactyly. Genetics in medicine : official journal of the American College of Medical Genetics 22 (1) (2019)
Muriel Holder-Espinasse, Aleksander Jamsheer, Fabienne Escande, Joris Andrieux, Florence Petit, Anna Sowinska-Seidler, Magdalena Socha, Anna Jakubiuk-Tomaszuk, Marion Gerard, Michèle Mathieu-Dramard, Valérie Cormier-Daire, Alain Verloes, Annick Toutain, Ghislaine Plessis, Philippe Jonveaux, Clarisse Baumann, Albert David, Chantal Farra, Estelle Colin, Sébastien Jacquemont, Annick Rossi, Sahar Mansour, Neeti Ghali, Anne Moncla, Nayana Lahiri, Jane Hurst, Elena Pollina, Christine Patch, Joo Wook Ahn, Anne-Sylvie Valat, Aurélie Mezel, Philippe Bourgeot, David Zhang, Sylvie Manouvrier-Hanu
Duplication of 10q24 locus: broadening the clinical and radiological spectrum. European journal of human genetics : EJHG 27 (4) (2019)
Clemence Vanlerberghe, Anne-Sophie Jourdain, Jamal Ghoumid, Frédéric Frenois, Aurélie Mezel, Guy Vaksmann, Bruno Lenne, Bruno Delobel, Nicole Porchet, Valérie Cormier-Daire, Thomas Smol, Fabienne Escande, Sylvie Manouvrier-Hanu, Florence Petit
Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants. European journal of human genetics : EJHG 27 (3) (2018)
Paul Kuentz, Judith St-Onge, Yannis Duffourd, Jean-Benoît Courcet, Virginie Carmignac, Thibaud Jouan, Arthur Sorlin, Claire Abasq-Thomas, Juliette Albuisson, Jeanne Amiel, Daniel Amram, Stéphanie Arpin, Tania Attie-Bitach, Nadia Bahi-Buisson, Sébastien Barbarot, Geneviève Baujat, Didier Bessis, Olivia Boccara, Maryse Bonnière, Odile Boute, Anne-Claire Bursztejn, Christine Chiaverini, Valerie Cormier-Daire, Christine Coubes, Bruno Delobel, Patrick Edery, Salima El Chehadeh, Christine Francannet, David Genevieve, Alice Goldenberg, Damien Haye, Bertrand Isidor, Marie-Line Jacquemont, Philippe Khau Van Kien, Didier Lacombe, Ludovic Martin, Jelena Martinovic, Annabel Maruani, Michèle Mathieu-Dramard, Juliette Mazereeuw-Hautier, Caroline Michot, Mignot Cyril, Juliette Miquel, Fanny Morice-Picard, Florence Petit, Alice Phan, Massimiliano Rossi, Renaud Touraine, Alain Verloes, Marie Vincent, Catherine Vincent-Delorme, Sandra Whalen, Marjolaine Willems, Nathalie Marle, Daphne Lehalle, Julien Thevenon, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Laurence Faivre, Pierre Vabres, Jean-Baptiste Rivière
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing. Genetics in medicine : official journal of the American College of Medical Genetics 19 (9) (2017)
Jamal Ghoumid, Morgane Stichelbout, Anne-Sophie Jourdain, Frederic Frenois, Sophie Lejeune-Dumoulin, Marie-Pierre Alex-Cordier, Marine Lebrun, Pierre Guerreschi, Veronique Duquennoy-Martinot, Matthieu Vinchon, Joel Ferri, Matthieu Jung, Serge Vicaire, Clemence Vanlerberghe, Fabienne Escande, Florence Petit, Sylvie Manouvrier-Hanu
Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1. Genetics in medicine : official journal of the American College of Medical Genetics 19 (9) (2017)

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Florence Petit