Daphne Lehalle (Daphné Lehalle)

ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 13

Top Venues

American journal of medical genetics. Part A

Journal of medical genetics

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

European journal of human genetics : EJHG

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)
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)
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)
Clara Velmans, Anne H O'Donnell-Luria, Emanuela Argilli, Frédéric 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, Daphne 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)
Daphne Lehalle, Pierre Vabres, Arthur Sorlin, Tatjana Bierhals, Magali Avila, Virginie Carmignac, Martin Chevarin, Erin Torti, Yuichi Abe, Tobias Bartolomaeus, Jill Clayton-Smith, Benjamin Cogné, Ivon Cusco, Laurence Duplomb, Eveline De Bont, Yannis Duffourd, Floor Duijkers, Orly Elpeleg, Aviva Fattal, David Geneviève, Maria J Guillen Sacoto, Anne Guimier, David J Harris, Maja Hempel, Bertrand Isidor, Thibaud Jouan, Paul Kuentz, Eriko Koshimizu, Klaske Lichtenbelt, Valerie Loik Ramey, Miriam Maik, Sakoto Miyakate, Yoshiko Murakami, Laurent Pasquier, Helio Pedro, Laurie Simone, Krista Sondergaard-Schatz, Judith St-Onge, Julien Thevenon, Irene Valenzuela, Rami Abou Jamra, Koen van Gassen, Mieke M van Haelst, Silvana van Koningsbruggen, Edgard Verdura, Christa Whelan Habela, Pia Zacher, Jean-Baptiste Rivière, Christel Thauvin-Robinet, Joerg Betschinger, Laurence Olivier-Faivre
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features. Journal of medical genetics 57 (12) (2020)
Aline Chassagne, Aurore Pélissier, Françoise Houdayer, Elodie Cretin, Elodie Gautier, Dominique Salvi, Sarah Kidri, Aurélie Godard, Christel Thauvin-Robinet, Alice Masurel, Daphne Lehalle, Nolwenn Jean-Marçais, Julien Thevenon, Gaetan Lesca, Audrey Putoux, Marie-Pierre Cordier, Sophie Dupuis-Girod, Marianne Till, Yannis Duffourd, Jean-Baptiste Rivière, Lorraine Joly, Christine Juif, Olivier Putois, Pierre Ancet, Anne-Sophie Lapointe, Paulette Morin, Patrick Edery, Massimiliano Rossi, Damien Sanlaville, Sophie Béjean, Christine Peyron, Laurence Faivre
Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study). European journal of human genetics : EJHG 27 (5) (2019)
Ash Zawerton, Cyril Mignot, Ashley Sigafoos, Patrick R Blackburn, Abdul Haseeb, Kirsty McWalter, Shoji Ichikawa, Caroline Nava, Boris Keren, Perrine Charles, Isabelle Marey, Anne-Claude Tabet, Jonathan Levy, Laurence Perrin, Andreas Hartmann, Gaetan Lesca, Caroline Schluth-Bolard, Pauline Monin, Sophie Dupuis-Girod, Maria J Guillen Sacoto, Rhonda E Schnur, Zehua Zhu, Alice Poisson, Salima El Chehadeh, Yves Alembik, Ange-Line Bruel, Daphne Lehalle, Sophie Nambot, Sébastien Moutton, Sylvie Odent, Sylvie Jaillard, Christele Dubourg, Yvonne Hilhorst-Hofstee, Tina Barbaro-Dieber, Lucia Ortega, Elizabeth J Bhoj, Diane Masser-Frye, Lynne M Bird, Kristin Lindstrom, Keri M Ramsey, Vinodh Narayanan, Emily Fassi, Marcia Willing, Trevor Cole, Claire G Salter, Rhoda Akilapa, Anthony Vandersteen, Natalie Canham, Patrick Rump, Erica H Gerkes, Jolien S Klein Wassink-Ruiter, Emilia Bijlsma, Mariëtte J V Hoffer, Marcelo Vargas, Antonina Wojcik, Florian Cherik, Christine Francannet, Jill Anne Rosenfeld, Keren Machol, Daryl A Scott, Carlos A Bacino, Xia Wang, Gary D Clark, Marta Bertoli, Simon Zwolinski, Rhys Huw Thomas, Ela Akay, Richard C Chang, Rebekah Bressi, Rossana Sanchez Russo, Myriam Srour, Laura Russell, Anne-Marie E Goyette, Lucie Dupuis, Roberto Mendoza-Londono, Catherine Karimov, Maries Joseph, Mathilde Nizon, Benjamin Cogné, Alma Kuechler, Amélie Piton, null null, Eric W Klee, Véronique Lefebvre, Karl J Clark, Christel Depienne
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Genetics in medicine : official journal of the American College of Medical Genetics 22 (3) (2019)
Daphne Lehalle, Roberto Colombo, Michael O'Grady, Bénédicte Héron, Nada Houcinat, Paul Kuentz, Sebastien Moutton, Arthur Sorlin, Julien Thevenon, Julian Delanne, Sebastien Gay, Caroline Racine, Aurore Garde, Frédéric Tran Mau-Them, Christophe Philippe, Antonio Vitobello, Sophie Nambot, Frédéric Huet, Yannis Duffourd, François Feillet, Christel Thauvin-Robinet, Sandrine Marlin, Laurence Olivier-Faivre
Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases. American journal of medical genetics. Part A 179 (9) (2019)
Daphne Lehalle, Umut Altunoglu, Ange-Line Bruel, Eric Arnaud, Patricia Blanchet, Jong-Woo Choi, Julie Désir, Esra Kiliç, Damien Lederer, Lucile Pinson, Christel Thauvin-Robinet, Amihood Singer, Julien Thevenon, Patrick Callier, Hulya Kayserili, Laurence Olivier-Faivre
Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients. American journal of medical genetics. Part A 173 (12) (2018)
Daphne Lehalle, Umut Altunoglu, Ange-Line Bruel, Mirna Assoum, Yannis Duffourd, Alice Masurel, Geneviève Baujat, Bettina Bessieres, Guillaume Captier, Patrick Edery, Nursel H Elçioğlu, David Geneviève, Alice Goldenberg, Delphine Héron, Sarah Grotto, Sandrine Marlin, Audrey Putoux, Massimiliano Rossi, Pascale Saugier-Veber, Stéphane Triau, Christelle Cabrol, Myriam Vézain, Catherine Vincent-Delorme, Christel Thauvin-Robinet, Julien Thevenon, Pierre Vabres, Patrick Callier, Hülya Kayserili, Laurence Olivier-Faivre
The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance. American journal of medical genetics. Part A 176 (12) (2018)
Daphne Lehalle, Anne-Laure Mosca-Boidron, Amber Begtrup, Odile Boute-Benejean, Perrine Charles, Megan T Cho, Amanda Clarkson, Orrin Devinsky, Yannis Duffourd, Laurence Duplomb-Jego, Bénédicte Gérard, Aurélia Jacquette, Paul Kuentz, Alice Masurel-Paulet, Carey McDougall, Sébastien Moutton, Hilde Olivié, Soo-Mi Park, Anita Rauch, Nicole Revencu, Jean-Baptiste Rivière, Karol Rubin, Ingrid Simonic, Deborah J Shears, Thomas Smol, Ana Lisa Taylor Tavares, Paulien Terhal, Julien Thevenon, Koen Van Gassen, Catherine Vincent-Delorme, Marjolein H Willemsen, Golder N Wilson, Elaine Zackai, Christiane Zweier, Patrick Callier, Christel Thauvin-Robinet, Laurence Faivre
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability. Journal of medical genetics 54 (7) (2017)
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)
Marie Bidart, Michèle El Atifi, Sarra Miladi, John Rendu, Véronique Satre, Pierre F Ray, Caroline Bosson, Françoise Devillard, Daphne Lehalle, Valérie Malan, Jeanne Amiel, Maria Antonietta Mencarelli, Margherita Baldassarri, Alessandra Renieri, Jill Clayton-Smith, Gaëlle Vieville, Julien Thevenon, Florence Amblard, François Berger, Pierre-Simon Jouk, Charles Coutton
Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features. Genetics in medicine : official journal of the American College of Medical Genetics 19 (6) (2016)

Daphne Lehalle.css-eqlu8i{font-size:small;padding-left:4px;} (Daphné Lehalle)

Publication Activity (10 Years)

Top Topics

Top Venues

Daphne Lehalle (Daphné Lehalle)