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Laurence Faivre

centre de génétique

85H-index
712Paper Count
3.3WCitation Count
Published Papers 351
Publication Date
Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review
err2026-07-08
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errCéline Jost; Alessandro Mussa; Jean-Emmanuel Kurtz; Ashmika Gokhul; Ann Nordgren; Silvia Kalantari; Diana Carli; Andrea Gazzin; Claudio Isella; Enzo Medico; Anna Cassisa; Daniela Cantarella; Thirona Naicker; Antoinette Chateau; Jean-Baptiste Demoulin; Nikolas Herold; Yordi-Michaël Bouhatous; Liubinka Mirakovska; Agnès Maurer; Théo Gaumet; Tara Wenger; Helena Iznardo; Eulalia Baselga; José Manuel Mascaro; Cécilie Bredrup; Olav Aga Kildal; Titas Gladkauskas; Cecilie F. Rustad; Ingrid Voktor Svinvik; Dinel Pond; Elise Schaefer; Maxime Luu; Marc Bardou; Laurence Faivre
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Neurodevelopmental Phenotypes and Brain Anomalies in Individuals With Heterozygous SEMA6A Variants
err2026-06-23
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errOAAI
errEvan Burchfiel; Xiaonan Zhao; Nichole M. Owen; Tia Gordon; Mahshid S. Azamian; Eric C. Kao; Fan Xia; Xi Luo; Jill A. Rosenfeld; Seema R. Lalani; Allison P. Ortega; Steven B. Bleyl; Florence Petit; Sulekha Rajagopolan; Bénédicte Demeer; Meredith K. Gillespie; Lijia Huang; Matthew Osmond; Kym M. Boycott; Kyra E. Stuurman; Marjon A. van Slegtenhorst; Haley Soller; Céline Jost; Aurore Garde; Hana Safraou; Laurence Faivre; Victor Faundes; Daryl A. Scott
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Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB-Related Neurocutaneous Disease Spectrum
err2026-05-28
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errEstella Castillon; Paul Rollier; Didier Bessis; Laurent Pasquier; Caroline Racine; Alexis Praga; Pierre Vabres; Bertille Bonniaud; Paul Kuentz; Laurence Faivre
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Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies
err2026-04-08
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errAmandine Santini; Angelo Tognon; Anne-Claire Richard; Guillaume Velasco; Gilles Phan; Pauline Marzin; Fabien Maury; Angele May; Caroline Michot; Adela Chirita-Emandi; Jorge M. Saraiva; Maria Juliana Ballesta-Martinez; Stanislas Lyonnet; Ivona Sansović; Tahsin Stefan Barakat; Perrine Brunelle; Jamal Ghoumid; Xavier Le Guillou; Pauline Le Tanno; Marjolaine Willems; Martin Zenker; Ina Schanze; Stéphanie Moortgat; Bertrand Isidor; Alix Paulet; Alison Yeung; Jonathan Levy; Federica Ruscitti; Leticia Pias-Peleteiro; Marlène Rio; Thomas Courtin; Hamza Hadj Abdallah; Stéphanie Ducreux; Jean-Sérène Laloy; Paul Rollier; Anne-Marie Guerrot; Nicolas Chatron; Florence Demurger; Alice Goldenberg; Julian Delanne; Laurence Faivre; François Lecoquierre; Gaël Nicolas; Aurélie Coussement; Corinne Collet; Yvan Herenger; Matthieu Defrance; Valérie Cormier-Daire; Camille Charbonnier; Maud de Dieuleveult
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De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder
err2026-01-28
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errOAAI
errCéline Jost; Tiffany Busa; Daniel Wegner; Marwan Shinawi; Elise Schaefer; Amélie Piton; Caroline Schluth-Bolard; Perrine Charles; Boris Keren; Katharina Mayerhanser; Theresa Brunet; Ulrich Schatz; Jennifer E. Neil; Christopher A. Walsh; Kathleen Sisco; Alexander J. Paul; Chung Lee; Natalie Dykzeul; Devon Bonner; Jonathan A. Bernstein; Erin Sutcliffe; Ingrid M. Wentzensen; Catherine Froehlich; Kaleigh Liebler; Patricia Galvin Parton; Jody Weiss-Burns; Chloé Sagnol; Julian Delanne; Caroline Racine; Christel Thauvin-Robinet; Hana Safraou; Frédéric Tran Mau-Them; Yannis Duffourd; Ange-Line Bruel; Laurence Faivre
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Genomic pathway managers: a novel role in the genomic medicine care pathway in France—overview and perspectives
err2025-12-09
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PREAI
errLéa Gaudillat; Léa Patay; Juliette Santenard; Amandine Baurand; Amandine Beaudouin; Dominique Salvi; Camille Level; Laurence Faivre; Frédérique Nowak; Christine Peyron; Christel Thauvin-Robinet
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Identification of an episignature for the MEF2C-associated syndrome
err2025-11-25
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PREAI
errAnanília Silva; Sadegheh Haghshenas; Liselot van der Laan; Michael A. Levy; Raissa Relator; Haley McConkey; Jennifer Kerkhof; Steve A. Skinner; Laurence Faivre; James Lespinasse; Antonio Vitobello; Irene Valenzuela; Ingrid E. Scheffer; Sophie J. Russ-Hall; Kenneth A. Myers; Matthew L. Tedder; Bekim Sadikovic; Jessica A. Cooley Coleman
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PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France
err2025-10-23
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errLevel, Camille; Thauvin-Robinet, Christel; Binquet, Christine; Duffourd, Yannis; Davoine, Emeline; Chevarin, Martin; Tran-Mau-Them, Frederic; Lemaitre, Margot; Bruel, Ange-Line; Safraou, Hana; Salvi, Dominique; Tisserant, Emilie; Lecommandeur, Emmanuelle; Charreton, Amandine; Hassine, Amir; de Tayrac, Marie; Redon, Richard; Barc, Julien; Schmitt, Sebatien; Piard, Juliette; Kuentz, Paul; Cormier, Coline; Malbos, Marlene; Racine, Caroline; Chabrol, Brigitte; Cheillan, David; Tardy, Veronique; Colin, Estelle; Bris, Celine; Mercier, Sandra; Nizon, Mathilde; Gaudillat, Lea; Loizeau, Virginie; Lenelle, Camille; Mottet, Nicolas; Simon, Emmanuel; Arnoux, Jean-Baptiste; Carpentier, Maud; Renaud, Catherine; Ziegler, Alban; Lejeune, Catherine; Jannot, Anne-Sophie; Asensio, Marie-Laure; Rollier, Paul; Odent, Sylvie; Bezieau, Stephane; Pasquier, Laurent; Huet, Frederic; Faivre, Laurence
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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
err2025-10-18
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PREAI
errDmitrijs Rots; Taryn E. Jakub; Crystal Keung; Adam Jackson; Siddharth Banka; Rolph Pfundt; Bert B.A. de Vries; Richard H. van Jaarsveld; Saskia M.J. Hopman; Ellen van Binsbergen; Irene Valenzuela; Maja Hempel; Tatjana Bierhals; Fanny Kortüm; Francois Lecoquierre; Alice Goldenberg; Jens Michael Hertz; Charlotte Brasch Andersen; Maria Kibæk; Eloise J. Prijoles; Roger E. Stevenson; David B. Everman; Wesley G. Patterson; Linyan Meng; Charul Gijavanekar; Karl De Dios; Shenela Lakhani; Tess Levy; Matias Wagner; Dagmar Wieczorek; Paul J. Benke; María Soledad Lopez Garcia; Renee Perrier; Sergio B. Sousa; Pedro M. Almeida; Maria José Simões; Bertrand Isidor; Wallid Deb; Andrew A. Schmanski; Omar Abdul-Rahman; Christophe Philippe; Ange-Line Bruel; Laurence Faivre; Antonio Vitobello; Christel Thauvin; Jeroen J. Smits; Livia Garavelli; Stefano G. Caraffi; Francesca Peluso; Laura Davis-Keppen; Dylan Platt; Erin Royer; Lisette Leeuwen; Margje Sinnema; Alexander P.A. Stegmann; Constance T.R.M. Stumpel; George E. Tiller; Daniëlle G.M. Bosch; Stephanus T. Potgieter; Shelagh Joss; Miranda Splitt; Simon Holden; Matina Prapa; Nicola Foulds; Sofia Douzgou; Kaija Puura; Regina Waltes; Andreas G. Chiocchetti; Christine M. Freitag; F. Kyle Satterstrom; Silvia De Rubeis; Joseph Buxbaum; Bruce D. Gelb; Aleksic Branko; Itaru Kushima; Jennifer Howe; Stephen W. Scherer; Alessia Arado; Chiara Baldo; Olivier Patat; Demeer Bénédicte; Diego Lopergolo; Filippo M. Santorelli; Tobias B. Haack; Andreas Dufke; Miriam Bertrand; Ruth J. Falb; Angelika Rieß; Peter Krieg; Stephanie Spranger; Maria Francesca Bedeschi; Maria Iascone; Sarah Josephi-Taylor; Tony Roscioli; Michael F. Buckley; Jan Liebelt; Aditi I. Dagli; Emmelien Aten; Anna C.E. Hurst; Alesha Hicks; Mohnish Suri; Ermal Aliu; Sunil Naik; Richard Sidlow; Juliette Coursimault; Gaël Nicolas; Hanna Küpper; Florence Petit; Veyan Ibrahim; Deniz Top; Francesca Di Cara; Raymond J. Louie; Elliot Stolerman; Han G. Brunner; Lisenka E.L.M. Vissers; Jamie M. Kramer; Tjitske Kleefstra
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Genetic modifiers and ascertainment drive variable expressivity of complex disorders
errCell
IF42.5
err2025-10-07
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errOAAI
errMatthew Jensen; Corrine Smolen; Anastasia Tyryshkina; Lucilla Pizzo; Jiawan Sun; Serena Noss; Deepro Banerjee; Matthew Oetjens; Hermela Shimelis; Cora M. Taylor; Vijay Kumar Pounraja; Hyebin Song; Laura Rohan; Emily Huber; Laila El Khattabi; Ingrid van de Laar; Rafik Tadros; Connie R. Bezzina; Marjon van Slegtenhorst; Janneke Kammeraad; Paolo Prontera; Jean-Hubert Caberg; Harry Fraser; Siddharth Banka; Anke Van Dijck; Charles Schwartz; Els Voorhoeve; Patrick Callier; Anne-Laure Mosca-Boidron; Nathalie Marle; Mathilde Lefebvre; Kate Pope; Penny Snell; Amber Boys; Paul J. Lockhart; Myla Ashfaq; Elizabeth McCready; Margaret Nowacyzk; Lucia Castiglia; Ornella Galesi; Emanuela Avola; Teresa Mattina; Marco Fichera; Maria Grazia Bruccheri; Giuseppa Maria Luana Mandarà; Francesca Mari; Flavia Privitera; Ilaria Longo; Aurora Curró; Alessandra Renieri; Boris Keren; Perrine Charles; Silvestre Cuinat; Mathilde Nizon; Olivier Pichon; Claire Bénéteau; Radka Stoeva; Dominique Martin-Coignard; Sophia Blesson; Cedric Le Caignec; Sandra Mercier; Marie Vincent; Christa L. Martin; Katrin Mannik; Alexandre Reymond; Laurence Faivre; Erik Sistermans; R. Frank Kooy; David J. Amor; Corrado Romano; Joris Andrieux; Santhosh Girirajan
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Further phenotypical delineation of DLG3-related neurodevelopmental disorders
err2025-09-22
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errMarlène Malbos; Thierry Gautier; Amelle Shillington; Estelle Colin; Xavier Le Guillou; Oana Caluseriu; Bertrand Isidor; Benjamin Cogné; Cyril Mignot; Boris Keren; Sacha Weber; Clémence Jacquin; Tracy Dudding; Daniel Calame; Juliette Piard; Jonathan Levy; Xenia Latypova; Alain Verloes; Tanguy Niclass; Aurélia Jacquette; Lori White; Marie-Pierre Moizard; Hélène Dollfus; Sébastien Moutton; Julian Delanne; Caroline Racine; Quentin Thomas; Anne-Sophie Denommé-Pichon; Frédéric Tran Mau-Them; Ange-Line Bruel; Hana Safraou; Christophe Philippe; Yannis Duffourd; Christel Thauvin-Robinet; Jérôme Govin; Antonio Vitobello; Laurence Faivre
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Double nonallelic somatic activating oncogene variants in a series of mosaic vascular anomalies
err2025-09-01
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PREAI
errKuentz, Paul; Hubiche, Thomas; Mallet, Stephanie; Severino-Freire, Maella; Maruani, Annabel; Boccara, Olivia; El Chehadeh, Salima; Dadone-Montaudie, Berengere; Martel, Jehanne; Amsallem, Daniel; Piard, Juliette; Coste, Victor; Puzenat, Eve; Thauvin-Robinet, Christel; Faivre, Laurence; Bonniaud, Bertille; Vabres, Pierre
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An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
err2025-08-07
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errSanaa Choufani; Vanda McNiven; Cheryl Cytrynbaum; Maryam Jangjoo; Margaret P. Adam; Hans T. Bjornsson; Jacqueline Harris; David A. Dyment; Gail E. Graham; Marjan M. Nezarati; Ritu B. Aul; Claudia Castiglioni; Jeroen Breckpot; Koen Devriendt; Helen Stewart; Benito Banos-Pinero; Sarju Mehta; Richard Sandford; Carolyn Dunn; Remi Mathevet; Lionel van Maldergem; Juliette Piard; Elise Brischoux-Boucher; Antonio Vitobello; Laurence Faivre; Marie Bournez; Frederic Tran-Mau; Isabelle Maystadt; Alberto Fernández-Jaén; Sara Alvarez; Irene Díez García-Prieto; Fowzan S. Alkuraya; Hessa S. Alsaif; Zuhair Rahbeeni; Karen El-Akouri; Mariam Al-Mureikhi; Rebecca C. Spillmann; Vandana Shashi; Pedro A. Sanchez-Lara; John M. Graham; Amy Roberts; Odelia Chorin; Gilad D. Evrony; Minna Kraatari-Tiri; Tracy Dudding-Byth; Anamaria Richardson; David Hunt; Laura Hamilton; Sarah Dyack; Bryce A. Mendelsohn; Nicolás Rodríguez; Rosario Sánchez-Martínez; Jair Tenorio-Castaño; Julián Nevado; Pablo Lapunzina; Pilar Tirado; Maria-Teresa Carminho Amaro Rodrigues; Lina Quteineh; A. Micheil Innes; Antonie D. Kline; P.Y. Billie Au; Rosanna Weksberg
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The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome-SHS
err2025-07-22
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errOAAI
errCharlène Daval; Nicolas Meunier-Beillard; Eléonore Viora-Dupont; Julian Delanne; Aurore Garde; Caroline Racine; Frédéric Tran Mau-Them; Anne-Sophie Denommé-Pichon; Christophe Philippe; Ange-Line Bruel; Hana Safraou; Sylvie Odent; Chloé Quélin; Marine Legendre; Sophie Naudion; Médéric Jeanne; Marie-Line Jacquemont; Agnès Guichet; Camille Saldana; Anne-Marie Guerrot; Alice Goldenberg; Caroline Guégan; Marie Vincent; Audrey Putoux; Christine Francannet; Constance Wells; Chloé Arthuis; Elodie Alexandre; Thierry Rousseau; Olivia Martz; Emilie Simon; Ornella Magnien; Fanny Bobert; Sophie Bert; Frédéric Coatleven; Fanny Reveyaz; Perrine Moulinié; Christine Binquet; Christel Thauvin-Robinet; Laurence Faivre
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Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features
err2025-04-01
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errThauvin-Robinet, Christel; Garde, Aurore; Favier, Maud; Delanne, Julian; Racine, Caroline; Rousseau, Thierry; Nambot, Sophie; Bruel, Ange-Line; Moutton, Sebastien; Quelin, Chloe; Colson, Cindy; Brehin, Anne-Claire; Guerrot, Anne-Marie; Rooryck, Caroline; Putoux, Audrey; Blanchet, Patricia; Odent, Sylvie; Schaefer, Elise; Boute, Odile; Goldenberg, Alice; Guichet, Agnes; Abel, Carine; Morel, Godelieve; Fradin, Melanie; Isidor, Bertrand; Vincent, Marie; Francannet, Christine; Vera, Gabriella; Petit, Florence; Nizon, Mathilde; Wells, Constance; Jeanne, Mederic; Deiller, Caroline; Ziegler, Alban; Godin, Manon; Saugier-Veber, Pascale; Cassinari, Kevin; Blanc, Pierre; Simon, Emmanuel; Binquet, Christine; Duffourd, Yannis; Safraou, Hana; Denomme-Pichon, Anne-Sophie; Vitobello, Antonio; Philippe, Christophe; Faivre, Laurence; Tran-Mau-Them, Frederic; Bourgon, Nicolas
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Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity
err2025-03-01
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PREAI
errBruel, Ange-Line; Vulto-vanSilfhout, Anneke T.; Bilan, Frederic; Le Guyader, Gwenael; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Rondeau, Sophie; Rio, Marlene; Lee, Kristen N.; Beil, Adelyn; Suri, Mohnish; Guerin, Francois; Ruault, Valentin; Goldenberg, Alice; Lecoquierre, Francois; Bertsch, Nicole; Anderson, Rhonda; Yang, Xiao-Ru; Inness, Micheil; Rikeros-Orozco, Emi; Palomares-Bralo, Maria; Hayek, Jennifer Cassady; Cech, Jennifer; Jhuraney, Ankita; Kumar, Runjun D.; Mercimek-Andrews, Saadet; Ambrose, Anastasia; Wakeling, Erin N.; Wentzensen, Ingrid M.; Torti, Erin; Gooch, Catherine; Faivre, Laurence; Philippe, Christophe; Duffourd, Yannis; Vitobello, Antonio; Thauvin-Robinet, Christel
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Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum
err2025-02-01
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PREAI
errVerbinnen, Iris; Houge, Sofia Douzgou; Hsieh, Tzung-Chien; Lesmann, Hellen; Kirchhoff, Aron; Genevieve, David; Brimble, Elise; Lenaerts, Lisa; Haesen, Dorien; Levy, Rebecca J.; Thevenon, Julien; Faivre, Laurence; Marco, Elysa; Chong, Jessica X.; Bamshad, Mike; Patterson, Karynne; Mirzaa, Ghayda M.; Foss, Kimberly; Dobyns, William; White, Susan M.; Pais, Lynn; O'Heir, Emily; Itzikowitz, Raphaela; Donald, Kirsten A.; van der Merwe, Celia; Mussa, Alessandro; Cervini, Raffaela; Giorgio, Elisa; Roscioli, Tony; Dias, Kerith-Rae; Evans, Carey-Anne; Brown, Natasha J.; Ruiz, Anna; Quintero, Juan Pablo Trujillo; Rabin, Rachel; Pappas, John; Yuan, Hai; Lachlan, Katherine; Thomas, Simon; Devlin, Anita; Wright, Michael; Martin, Richard; Karwowska, Joanna; Posmyk, Renata; Chatron, Nicolas; Stark, Zornitza; Heath, Oliver; Delatycki, Martin; Buchert, Rebecca; Korenke, Georg-Christoph; Ramsey, Keri; Narayanan, Vinodh; Grange, Dorothy K.; Weisenberg, Judith L.; Haack, Tobias B.; Karch, Stephanie; Kipkemoi, Patricia; Mangi, Moses; Heus, Karen G. C. B. Bindels de; Wit, Marie-Claire Y. de; Barakat, Tahsin Stefan; Lim, Derek; Van Winckel, Geraldine; Spillmann, Rebecca C.; Shashi, Vandana; Jacob, Maureen; Stehr, Antonia M.; Houge, Gunnar Douzgos; Janssens, Veerle
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Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability
err2025-01-01
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errOAAI
errCordovado, Amelie; Herenger, Yvan; Cormier, Coline; Lopez-Martin, Estrella; Stamberger, Hannah; Faivre, Laurence; Denomme-Pichon, Anne-Sophie; Vitobello, Antonio; Abdallah, Hamza Hadj; Barcia, Giulia; Courtin, Thomas; Martinez-Delgado, Beatriz; Bermejo-Sanchez, Eva; Barrero, Maria J.; Gasser, Brooklynn; Bezieau, Stephane; Kury, Sebastien; Weckhuysen, Sarah; Laumonnier, Frederic; Toutain, Annick; Vuillaume, Marie-Laure
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Correspondence on The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2 by Lai et al
err2024-11-01
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PREAI
errHorta, Edgar; Dahlen, Eric; Engel, Camille; Piard, Juliette; Thauvin-Robinet, Christel; Faivre, Laurence; Vabres, Pierre; Kuentz, Paul
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BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
err2024-10-24
err3
errOAAI
errPeron, Angela; D'Arco, Felice; Aldinger, Kimberly A.; Smith-Hicks, Constance; Zweier, Christiane; Gradek, Gyri A.; Bradbury, Kimberley; Accogli, Andrea; Andersen, Erica F.; Au, Ping Yee Billie; Battini, Roberta; Beleford, Daniah; Bird, Lynne M.; Bouman, Arjan; Bruel, Ange-Line; Busk, Oyvind Lovold; Campeau, Philippe M.; Capra, Valeria; Carlston, Colleen; Carmichael, Jenny; Chassevent, Anna; Clayton-Smith, Jill; Bamshad, Michael J.; Earl, Dawn L.; Faivre, Laurence; Philippe, Christophe; Ferreira, Patrick; Graul-Neumann, Luitgard; Green, Mary J.; Haffner, Darrah; Haldipur, Parthiv; Hanna, Suhair; Houge, Gunnar; Jones, Wendy D.; Kraus, Cornelia; Kristiansen, Birgit Elisabeth; Lespinasse, James; Low, Karen J.; Lynch, Sally Ann; Maia, Sofia; Mao, Rong; Kalinauskiene, Ruta; Melver, Catherine; McDonald, Kimberly; Montgomery, Tara; Morleo, Manuela; Motter, Constance; Openshaw, Amanda S.; Palumbos, Janice Cox; Parikh, Aditi Shah; Perilla-Young, Yezmin; Powell, Cynthia M.; Person, Richard; Desai, Megha; Piard, Juliette; Pfundt, Rolph; Scala, Marcello; Serey-Gaut, Margaux; Shears, Deborah; Slavotinek, Anne; Suri, Mohnish; Turner, Claire; Tvrdik, Tatiana; Weiss, Karin; Wentzensen, Ingrid M.; Zollino, Marcella; Hsieh, Tzung-Chien; de Vries, Bert B. A.; Guillemot, Francois; Dobyns, William B.; Viskochil, David; Dias, Cristina
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