Pinson Lucile - CHU Montpellier, Hop Arnaud de Villeneuve

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论文共 41 篇作者统计合作学者相似作者

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Comprehensive EHMT1 Variants Analysis Broadens Genotype-Phenotype Associations and Molecular Mechanisms in Kleefstra Syndrome

Dmitrijs Rots,Arianne Bouman,Ayumi Yamada,Michael Levy,Alexander J. M. Dingemans,Bert B. A. de Vries,Martina Ruiterkamp-Versteeg,Nicole de Leeuw,Charlotte W. Ockeloen,Rolph Pfundt,Elke de Boer,Joost Kummeling,Bregje van Bon, Hans van Bokhoven,Nael Nadif Kasri,Hanka Venselaar,Marielle Alders,Jennifer Kerkhof,Haley McConkey,Alma Kuechler, Bart Elffers, Rixje van Beeck Calkoen, Susanna Hofman, Audrey Smith, Maria Irene Valenzuela, Siddharth Srivastava,Zoe Frazier,Isabelle Maystadt,Carmelo Piscopo, Giuseppe Merla, Meena Balasubramanian,Gijs W. E. Santen,Kay Metcalfe,Soo-Mi Park, Laurent Pasquier, Siddharth Banka, Dian Donnai,Daniel Weisberg, Gertrud Strobl-Wildemann,Annemieke Wagemans,Maaike Vreeburg, Diana Baralle,Nicola Foulds,Ingrid Scurr, Nicola Brunetti-Pierri,Johanna M. van Hagen, Emilia K. Bijlsma, Anna H. Hakonen,Carolina Courage, David Genevieve,Lucile Pinson, Francesca Forzano,Charu Deshpande, Maria L. Kluskens, Lindsey Welling,Astrid S. Plomp,Els K. Vanhoutte,Louisa Kalsner, Janna A. Hol,Audrey Putoux, Johanna Lazier,Pradeep Vasudevan, Elizabeth Ames, Jessica O'Shea,Damien Lederer,Julie Fleischer, Mary O'Connor, Melissa Pauly,Georgia Vasileiou, Andre Reis, Catherine Kiraly-Borri,Arjan Bouman, Chris Barnett,Marjan Nezarati, Lauren Borch,Gea Beunders, Kubra Ozcan, Stephanie Miot,Catharina M. L. Volker-Touw,Koen L. I. van Gassen, Gerarda Cappuccio, Katrien Janssens,Nofar Mor, Inna Shomer,Dan Dominissini,Matthew L. Tedder,Alison M. Muir, Bekim Sadikovic, Han G. Brunner, Lisenka E. L. M. Vissers, Yoichi Shinkai, Tjitske Kleefstra

AMERICAN JOURNAL OF HUMAN GENETICSno. 8 (2024): 1605-1625

引用0浏览0WOS引用

Uorf-Creating Mutations in Van Der Woude Syndrome: Why It is Important to Study 5′Utrs

Magalie Lodin, Julie Galimand,Florence Dastot-Le Moal,Bruno Copin,Sandra Mercier,Lucile Pinson,Nathalie Collot,Irina Giurgea,Serge Amselem,Marie Legendre

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 268-268

引用0浏览0引用

The Neurodevelopmental and Facial Phenotype in Individuals with a TRIP12 Variant

Mio Aerden,Anne-Sophie Denommé-Pichon,Dominique Bonneau,Ange-Line Bruel,Julian Delanne,Bénédicte Gérard,Benoît Mazel,Christophe Philippe,Lucile Pinson,Clément Prouteau,Audrey Putoux,Frédéric Tran Mau-Them,Éléonore Viora-Dupont,Antonio Vitobello,Alban Ziegler,Amélie Piton,Bertrand Isidor,Christine Francannet,Pierre-Yves Maillard,Sophie Julia,Anais Philippe,Elise Schaefer,Saskia Koene,Claudia Ruivenkamp,Mariette Hoffer,Eric Legius,Miel Theunis,Boris Keren,Julien Buratti,Perrine Charles,Thomas Courtin,Mala Misra-Isrie,Mieke 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

European Journal of Human Genetics（2023）

引用7浏览0WOSNATURE引用

Low Risk of Embryonic and Other Cancers in PIK3CA-related Overgrowth Spectrum: Impact on Screening Recommendations

Laurence Faivre,Jean-Charles Crepin,Manon Reda,Sophie Nambot,Virginie Carmignac,Caroline Abadie, Tristan Mirault,Cecile Faure-Conter,Juliette Mazereeuw-Hautier,Aude Maza,Eve Puzenat, Marie-Agnes Collonge-Rame,Anne-Claire Bursztejn,Christophe Philippe,Christel Thauvin-Robinet,Martin Chevarin,Claire Abasq-Thomas,Jeanne Amiel,Stephanie Arpin,Sebastien Barbarot,Genevieve 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,Daphne 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

Clinical Genetics（2023）

引用1浏览0WOS引用

First Evidence of SOX2 Mutations in Peters' Anomaly: Lessons from Molecular Screening of 95 Patients

Clinical Genetics（2022）

引用9浏览0WOS引用

1P36 Deletion Syndrome: Review and Mapping with Further Characterization of the Phenotype, a New Cohort of 86 Patients

American Journal of Medical Genetics Part Ano. 2 (2022): 445-458

引用5浏览0WOS引用

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