logo
CanyamAI summaries for academic research
language
MobileMobile
  • Phone FeatureWeChat Mini Program
EnglishEnglish
noticeNotice
BlogBlog
delete
arrow
Back
S

Stanislas Lyonnet

universite paris cite

98H-index
652Paper Count
4.2WCitation Count
Published Papers 221
Publication Date
logo
Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies
errGenome Medicine
IF11.2
err2026-04-08
err0
errOAAI
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
errShare
errSave
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
errNature Genetics
IF29
err2026-03-30
err0
errOAAI
errElsa Leitão; Amandine Santini; Benjamin Cogne; Miriam Essid; Maria Athanasiadou; Christy W. LaFlamme; Pierre Marijon; Virginie Bernard; Kevin Jousselin; Nicolas Chatron; Giulia Barcia; Boris Keren; Cyril Mignot; Perrine Charles; Thomas Besnard; Robin Paluch; Jean-Madeleine de Sainte Agathe; Edith P. Almanza Fuerte; Soham Sengupta; Mathieu Milh; Francis Ramond; Talia Allan; Isabelle An; Camila Araujo; Stéphanie Arpin; Christina Austin-Tse; Stéphane Auvin; Sarah Baer; Nadia Bahi-Buisson; Mads Bak; Magalie Barth; Stéphanie Baulac; Nathalie Bednarek-Weirauch; Matthias Begemann; Mark F. Bennett; Uriel Bensabath; Stéphane Bézieau; Rakia Bhouri; Margaux Biehler; Trine Bjørg Hammer; Julie Bogoin; Emilie Bonanno; Simon Boussion; Céline Bris; Adelaide Brosseau-Beauvir; Ange-Line Bruel; Audrey Briand-Suleau; Julien Buratti; Tristan Celse; Pascal Chambon; Nicole Chemaly; Bertrand Chesneau; Estelle Colin; Maxime Colmard; Cindy Colson; Solène Conrad; Thomas Courtin; Isabelle Creveaux; Anne-Charlotte Cullier; Louis T. Dang; Anne de Saint Martin; Caroline de Vanssay de Blavous Legendre; Bénédicte Demeer; Anne-Sophie Denommé-Pichon; Philine Diekhoff; Stephanie DiTroia; Martine Doco-Fenzy; Christèle Dubourg; Charlotte Dubucs; Stéphanie Ducreux; Louis Dufour; Romain Duquet; Benjamin Durand; Salima El Chehadeh; Miriam Elbracht; Laurence Faivre; Marie Faoucher; Anne Faudet; Sylvie Forlani; Mélanie Fradin; Pauline Gaignard; Benjamin Ganne; Aurore Garde; Justine Géraud; Deepak Gill; Alice Goldenberg; David Grabli; Coraline Grisel; Sophie Gueden; Paul Gueguen; Anne-Marie Guerrot; Agnès Guichet; Tobias B. Haack; Nina Härting; Martin Georg Häusler; Solveig Heide; Theresia Herget; Bénédicte Héron; Delphine Héron; Johanna Herwig; Mathilde Heulin; Tess Holling; Clara Houdayer; Bertrand Isidor; Aurélia Jacquette; Louis Januel; Nolwenn Jean-Marçais; Frank J. Kaiser; Sabine Kaya; Chontelle King; Marina Konyukh; Florian Kraft; Jeremias Krause; Rémi Kirstetter; Alma Kuechler; Ingo Kurth; Kerstin Kutsche; Audrey Labalme; Jean-Serene Laloy; Vincent Laugel; Floriane Le Bricquir; Anne-Sophie Lèbre; Marine Lebrun; Eric Leguern; Jonathan Levy; Nico Lieffering; Stanislas Lyonnet; Kevin Lüthy; Sian M. W. Macdonald; Lamisse Mansour-Hendili; Julien Maraval; Iris Marquardt; Carolin Mattausch; Sandra Mercier; Olfa Messaoud; Godelieve Morel; Jérémie Mortreux; Arnold Munnich; Rima Nabbout; Sophie Nambot; Vincent Navarro; Ashana Neale; Laetitia Nguyen; Mathilde Nizon; Frédérique Nowak; Melanie C. O’Leary; Sylvie Odent; Naomi Meave Ojeda; Valérie Olin; Simone Olivieri; Katrin Õunap; Lynn S. Pais; Eleni Panagiotakaki; Olivier Patat; Laurence Perrin-Sabourin; Florence Petit; Christophe Philippe; Amélie Piton; Marc Planes; Céline Poirsier; Antoine Pouzet; Clément Prouteau; Sylvia Quéméner-Redon; Mathilde Renaud; Anne-Claire Richard; Marlène Rio; Clotilde Rivier; Florence Robin-Renaldo; Paul Rollier; Massimiliano Rossi; Agathe Roubertie; Valentin Ruault; Maïlys Rupin-Mas; Pascale Saugier-Veber; Aline Saunier; Russell Saneto; Elisabeth Sarrazin; Catherine Sarret; Elise Schaefer; Caroline Schluth-Bolard; Amy Schneider; Isabell Schumann; Vladimir B. Seplyarskiy; Stephanie Spranger; Thomas Smol; Marc Sturm; Shamil R. Sunyaev; Brian Sperelakis-Beedham; Sarah L. Stenton; Friedrich Stock; Mylène Tharreau; Deniz Torun; Joseph Toulouse; Harshini Thiyagarajah; Stéphanie Valence; Sophie Valleix; Julien Van-Gils; Laurent Villard; Dorothée Ville; Nathalie Villeneuve; Antonio Vitobello; Aurélie Waernessyckle; Jan Wagner; Yvonne Weber; Dagmar Wieczorek; Tom Witkowski; Manya Yadavilli; Tony Yammine; Khaoula Zaafrane-Khachnaoui; Maha S. Zaki; Alban Ziegler; Nuria C. Bramswig; Alban Lermine; Gael Nicolas; Joseph G. Gleeson; Lynette G. Sadleir; Michael S. Hildebrand; Ingrid E. Scheffer; Nicola Whiffin; Anne O’Donnell-Luria; Heather C. Mefford; Pierre Blanc; Julien Thevenon; Camille Charbonnier; Clément Charenton; Christel Depienne; Gaetan Lesca; Caroline Nava
errShare
errSave
Evaluation of a New Inclusive Next-Generation Synthetic Face Tool for Dysmorphology
errAmerican Journal of Medical Genetics Part A
IF1.7
err2025-11-01
err1
PREAI
errBenichou, Ludovic; Breton, Luan; Garcelon, Nicolas; Benichou, Benjamin; Lienhard, Olivier; Amiel, Jeanne; Bongibault, Thomas; Hidalgo, Ana-julia Bravo; Cormier-Daire, Valerie; Lyonnet, Stanislas; Picard, Arnaud; Rio, Marlene; Zaiter, Ahmed; Khonsari, Roman H.; Hennocq, Quentin
errShare
errSave
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study
errGenome Medicine
IF11.2
err2025-10-04
err0
errOAAI
errSalima El Chehadeh; Solveig Heide; Chloé Quélin; Marlène Rio; Henri Margot; David Geneviève; Bertrand Isidor; Alice Goldenberg; Caroline Guégan; Gaëtan Lesca; Marjolaine Willems; Clothilde Ormières; Roseline Caumes; Tiffany Busa; Dominique Bonneau; Anne-Marie Guerrot; Isabelle Marey; Gabriella Vera; Pauline Marzin; Anaïs Philippe; Aurore Garde; Christine Coubes; Marie Vincent; Vincent Michaud; Cyril Mignot; Perrine Charles; Sabine Sigaudy; Patrick Edery; Didier Lacombe; Anne Boland; Frédérique Nowak; Marion Bouctot; Marie-Laure Humbert-Asensio; Alban Simon; Kirsley Chennen; Niki Sabour; Christelle Delmas; Gaël Nicolas; Pascale Saugier-Veber; François Lecoquierre; Kévin Cassinari; Boris Keren; Thomas Courtin; Jean-Madeleine De Sainte Agathe; Valérie Malan; Giulia Barcia; Frédéric Tran Mau-Them; Hana Safraou; Christophe Philippe; Julien Thévenon; Nicolas Chatron; Louis Januel; Amélie Piton; Virginie Haushalter; Bénédicte Gérard; Catherine Lejeune; Laurence Faivre; Damien Sanlaville; Delphine Héron; Sylvie Odent; Patrick Nitschké; Caroline Schluth-Bolard; Stanislas Lyonnet; Jean-François Deleuze; Christine Binquet; Hélène Dollfus
errShare
errSave
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2025-04-01
err0
PREAI
errGuillouet, Charlotte; Agostini, Valeria; Baujat, Genevieve; Cocciadiferro, Dario; Pippucci, Tommaso; Lesieur-Sebellin, Marion; Georget, Mathieu; Schatz, Ulrich; Fauth, Christine; Louie, Raymond J.; Rogers, Curtis; Davis, Jessica M.; Konstantopoulou, Vassiliki; Mayr, Johannes A.; Bouman, Arjan; Wilke, Martina; VanNoy, Grace E.; England, Eleina M.; Park, Kristen L.; Brown, Kathleen; Saenz, Margarita; Novelli, Antonio; Digilio, Maria Cristina; Mastromoro, Gioia; Rongioletti, Mauro Ciro Antonio; Piacentini, Gerardo; Kaiyrzhanov, Rauan; Guliyeva, Sughra; Hasanova, Lala; Shears, Deborah; Bhatnagar, Ishita; Stals, Karen; Klaas, Oliver; Horvath, Judit; Bouvagnet, Patrice; Witmer, P. Dane; MacCarrick, Gretchen; Cisarova, Katarina; Good, Jean-Marc; Gorokhova, Svetlana; Boute, Odile; Smol, Thomas; Bruel, Ange-Line; Patat, Olivier; Broadbent, Julia R.; Tan, Tiong Y.; Tan, Natalie B.; Lyonnet, Stanislas; Busa, Tiffany; Graziano, Claudio; Amiel, Jeanne; Gordon, Christopher T.
errShare
errSave
Expanding PIGM-related disorders to coding mutations
errJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
IF8
err2025-02-06
err0
PREAI
errRomain Nicolle; Laura Russell; Véronique Abadie; Patrick Nitschke; Christine Bole; Simon-Pierre Guay; Thi Tuyet Mai Nguyen; Stéphanie Leclerc-Mercier; Stanislas Lyonnet; Julie Steffann; Philippe M. Campeau; Jacob Mashiah; Christine Bodemer; Smail Hadj-Rabia; Jeanne Amiel
errShare
errSave
Digenic Inheritance Mode in Congenital Hypothyroidism Due to Thyroid Dysgenesis: HYPOTYGEN Translational Cohort Study
errJOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
IF5.1
err2025-01-09
err0
errOAAI
errStoupa, Athanasia; Kariyawasam, Dulanjalee; Jabot-Hanin, Fabienne; Nguyen-Quoc, Adrien; Hanein, Sylvain; Rabeony, Tioka; Elie, Caroline; Colas, Sandra; Thalassinos, Caroline; Oliver-Petit, Isabelle; Houang, Muriel; Coutant, Regis; Barat, Pascal; Nicolino, Marc; Reynaud, Rachel; de Kerdanet, Marc; Bensignor, Candace; Baron, Sabine; Raynaud-Ravni, Catherine; Souchon, Pierre-Francois; Leger, Juliane; Castanet, Mireille; Bole-Feysot, Christine; Nitschke, Patrick; Lyonnet, Stanislas; Polak, Michel; Carre, Aurore
errShare
errSave
Identifying News Genes Involved in Unexplained Erythrocytosis Throught a Clinical Database
errBLOOD
IF23.1
err2024-11-05
err0
PREAI
errZanchetta-Balint, Fabian; Maaziz, Nada; Garcelon, Nicolas; Cormier-Daire, Valerie; Gardie, Betty; Canaud, Guillaume; Rahal, Ilhem; Joseph, Laure; Lefrere, Francois; Lyonnet, Stanislas; Maciel, Thiago Trovati; Girodon, Francois; Hermine, Olivier
errShare
errSave
Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-08-01
err1
PREAI
errHaghshenas, Sadegheh; Karimi, Karim; Stevenson, Roger E.; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; Rzasa, Jessica; McConkey, Haley; Lauzon-Young, Carolyn; Balci, Tugce B.; White-Brown, Alexandre M.; Carter, Melissa T.; Richer, Julie; Armour, Christine M.; Sawyer, Sarah L.; Bhola, Priya T.; Tedder, Matthew L.; Skinner, Cindy D.; van Rooij, Iris A. L. M.; van de Putte, Romy; de Blaauw, Ivo; Koeck, Rebekka M.; Hoischen, Alexander; Brunner, Han; Esteki, Masoud Zamani; Pelet, Anna; Lyonnet, Stanislas; Amiel, Jeanne; Boycott, Kym M.; Sadikovic, Bekim
errShare
errSave
Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies
errBMC MEDICAL INFORMATICS AND DECISION MAKING
IF3.8
err2024-05-24
err1
errOAAI
errFaviez, Carole; Chen, Xiaoyi; Garcelon, Nicolas; Zaidan, Mohamad; Billot, Katy; Petzold, Friederike; Faour, Hassan; Douillet, Maxime; Rozet, Jean-Michel; Cormier-Daire, Valerie; Attie-Bitach, Tania; Lyonnet, Stanislas; Saunier, Sophie; Burgun, Anita
errShare
errSave
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome
errGENETICS IN MEDICINE
IF6.2
err2024-04-01
err1
PREAI
errHannes, Laurens; Atzori, Marta; Goldenberg, Alice; Argente, Jesus; Attie-Bitach, Tania; Amiel, Jeanne; Attanasio, Catia; Braslavsky, Debora G.; Bruel, Ange-Line; Castanet, Mireille; Dubourg, Christele; Jacobs, An; Lyonnet, Stanislas; Martinez-Mayer, Julian; Millan, Maria Ines Perez; Pezzella, Nunziana; Pelgrims, Elise; Aerden, Mio; Bauters, Marijke; Rochtus, Anne; Scaglia, Paula; Swillen, Ann; Sifrim, Alejandro; Tammaro, Roberta; Mau-Them, Frederic Tran; Odent, Sylvie; Thauvin-Robinet, Christel; Franco, Brunella; Breckpot, Jeroen
errShare
errSave
Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome
errSCIENTIFIC REPORTS
IF3.9
err2024-01-28
err6
errOAAI
errHennocq, Quentin; Willems, Marjolaine; Amiel, Jeanne; Arpin, Stephanie; Attie-Bitach, Tania; Bongibault, Thomas; Bouygues, Thomas; Cormier-Daire, Valerie; Corre, Pierre; Dieterich, Klaus; Douillet, Maxime; Feydy, Jean; Galliani, Eva; Giuliano, Fabienne; Lyonnet, Stanislas; Picard, Arnaud; Porntaveetus, Thantrira; Rio, Marlene; Rouxel, Flavien; Shotelersuk, Vorasuk; Toutain, Annick; Yauy, Kevin; Genevieve, David; Khonsari, Roman H.; Garcelon, Nicolas
errShare
errSave
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals
errGENETICS IN MEDICINE
IF6.2
err2024-01-01
err2
PREAI
errSabbagh, Quentin; Haghshenas, Sadegheh; Piard, Juliette; Trouve, Chloe; Amiel, Jeanne; Attie-Bitach, Tania; Balci, Tugce; Barat-Houari, Mouna; Belonis, Alyce; Boute, Odile; Brightman, Diana S.; Bruel, Ange-Line; Caraffi, Stefano Giuseppe; Chatron, Nicolas; Collet, Corinne; Dufour, William; Edery, Patrick; Fong, Chin-To; Fusco, Carlo; Gatinois, Vincent; Gouy, Evan; Guerrot, Anne-Marie; Heide, Solveig; Joshi, Aakash; Karp, Natalya; Keren, Boris; Lesieur-Sebellin, Marion; Levy, Jonathan; Levy, Michael A.; Lozano, Claire; Lyonnet, Stanislas; Margot, Henri; Marzin, Pauline; Mcconkey, Haley; Michaud, Vincent; Nicolas, Gael; Nizard, Mevyn; Paulet, Alix; Peluso, Francesca; Pernin, Vincent; Perrin, Laurence; Philippe, Christophe; Prasad, Chitra; Prasad, Madhavi; Relator, Raissa; Rio, Marlene; Rondeau, Sophie; Ruault, Valentin; Ruiz-Pallares, Nathalie; Sanchez, Elodie; Shears, Debbie; Siu, Victoria Mok; Sorlin, Arthur; Tedder, Matthew; Tharreau, Mylene; Mau-Them, Frederic Tran; Laan, Liselot van der; Van Gils, Julien; Verloes, Alain; Whalen, Sandra; Willems, Marjolaine; Yauy, Kevin; Zuntini, Roberta; Kerkhof, Jennifer; Sadikovic, Bekim; Genevieve, David
errShare
errSave
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2023-12-01
err6
errOAAI
errEngal, Eden; Oja, Kaisa Teele; Maroofian, Reza; Geminder, Ophir; Le, Thuy-Linh; Marzin, Pauline; Guimier, Anne; Mor, Evyatar; Zvi, Naama; Elefant, Naama; Zaki, Maha S.; Gleeson, Joseph G.; Muru, Kai; Pajusalu, Sander; Wojcik, Monica H.; Pachat, Divya; Elmaksoud, Marwa Abd; Jeong, Won Chan; Lee, Hane; Bauer, Peter; Zifarelli, Giovanni; Houlden, Henry; Daana, Muhannad; Elpeleg, Orly; Amiel, Jeanne; Lyonnet, Stanislas; Gordon, Christopher T.; Harel, Tamar; Ounap, Katrin; Salton, Maayan; Mor-Shaked, Hagar
errShare
errSave
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2023-10-23
err11
errOAAI
errHusson, Thomas; Lecoquierre, Francois; Nicolas, Gael; Richard, Anne-Claire; Afenjar, Alexandra; Audebert-Bellanger, Severine; Badens, Catherine; Bilan, Frederic; Bizaoui, Varoona; Boland, Anne; Bonnet-Dupeyron, Marie-Noelle; Brischoux-Boucher, Elise; Bonnet, Celine; Bournez, Marie; Boute, Odile; Brunelle, Perrine; Caumes, Roseline; Charles, Perrine; Chassaing, Nicolas; Chatron, Nicolas; Cogne, Benjamin; Colin, Estelle; Cormier-Daire, Valerie; Dard, Rodolphe; Dauriat, Benjamin; Delanne, Julian; Deleuze, Jean-Francois; Demurger, Florence; Denomme-Pichon, Anne-Sophie; Depienne, Christel; Dieux, Anne; Dubourg, Christele; Edery, Patrick; El Chehadeh, Salima; Faivre, Laurence; Fergelot, Patricia; Fradin, Melanie; Garde, Aurore; Genevieve, David; Gilbert-Dussardier, Brigitte; Goizet, Cyril; Goldenberg, Alice; Gouy, Evan; Guerrot, Anne-Marie; Guimier, Anne; Harzalla, Ines; Heron, Delphine; Isidor, Bertrand; Lacombe, Didier; Horn, Xavier Le Guillou; Keren, Boris; Kuechler, Alma; Lacaze, Elodie; Lavillaureix, Alinoe; Lehalle, Daphne; Lesca, Gaetan; Lespinasse, James; Levy, Jonathan; Lyonnet, Stanislas; Morel, Godelieve; Jean-Marcais, Nolwenn; Marlin, Sandrine; Marsili, Luisa; Mignot, Cyril; Nambot, Sophie; Nizon, Mathilde; Olaso, Robert; Pasquier, Laurent; Perrin, Laurine; Petit, Florence; Pingault, Veronique; Piton, Amelie; Prieur, Fabienne; Putoux, Audrey; Planes, Marc; Odent, Sylvie; Quelin, Chloe; Quemener-Redon, Sylvia; Rama, Melanie; Rio, Marlene; Rossi, Massimiliano; Schaefer, Elise; Rondeau, Sophie; Saugier-Veber, Pascale; Smol, Thomas; Sigaudy, Sabine; Touraine, Renaud; Mau-Them, Frederic Tran; Trimouille, Aurelien; Van Gils, Julien; Vanlerberghe, Clemence; Vantalon, Valerie; Vera, Gabriella; Vincent, Marie; Ziegler, Alban; Guillin, Olivier; Campion, Dominique; Charbonnier, Camille
errShare
errSave
Functional Effects of PTPN11 (SHP2) Mutations Causing LEOPARD Syndrome on Epidermal Growth Factor-Induced Phosphoinositide 3-Kinase/AKT/Glycogen Synthase Kinase 3β Signaling
errMOLECULAR AND CELLULAR BIOLOGY
IF2.7
err2023-03-20
err87
errOAAI
errEdouard, Thomas; Combier, Jean-Philippe; Nedelec, Audrey; Bel-Vialar, Sophie; Metrich, Melanie; Conte-Auriol, Francoise; Lyonnet, Stanislas; Parfait, Beatrice; Tauber, Maithe; Salles, Jean-Pierre; Lezoualc'h, Frank; Yart, Armelle; Raynal, Patrick
errShare
errSave
Neurodevelopmental disorders (NDD) without boundaries: research and interventions beyond classifications
errJOURNAL OF NEURAL TRANSMISSION
IF4
err2023-01-31
err1
PREAI
errLouveau, Cecile; Ellul, Pierre; Iftimovici, Anton; Dubreucq, Julien; Laidi, Charles; Leyrolle, Quentin; Purper-Ouakil, Diane; Jacquemont, Sebastien; Lyonnet, Stanislas; Barthelemy, Catherine; Krebs, Marie-Odile; Bai, Jing; Olivier, Paul; Chaumette, Boris
errShare
errSave
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology (vol 3, 100102, 2022)
errHUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
err2023-01-01
err1
errOAAI
errSobering, Andrew K.; Bryant, Laura M.; Li, Dong; McGaughran, Julie; Maystadt, Isabelle; Moortgat, Stephanie; Graham, John M., Jr.; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Vogt, Julie; Morton, Jenny; Brasch-Andersen, Charlotte; Steenhof, Maria; Hansen, Lars Kjaersgaard; Adler, Elodie; Lyonnet, Stanislas; Pingault, Veronique; Sandrine, Marlin; Ziegler, Alban; Donald, Tyhiesia; Nelson, Beverly; Holt, Brandon; Petryna, Oleksandra; Firth, Helen; McWalter, Kirsty; Zyskind, Jacob; Telegrafi, Aida; Juusola, Jane; Person, Richard; Bamshad, Michael J.; Earl, Dawn; Tsai, Anne Chun-Hui; Yearwood, Katherine R.; Marco, Elysa; Nowak, Catherine; Douglas, Jessica; Hakonarson, Hakon; Bhoj, Elizabeth J.
errShare
errSave
Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction method
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2022-08-20
err3
errOAAI
errFriedlander, Lisa; Vincent, Marc; Berdal, Ariane; Cormier-Daire, Valerie; Lyonnet, Stanislas; Garcelon, Nicolas
errShare
errSave
Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling
errGENETICS IN MEDICINE
IF6.2
err2022-08-01
err8
errOAAI
errDufour, William; Alawbathani, Salem; Jourdain, Anne-Sophie; Asif, Maria; Baujat, Genevieve; Becker, Christian; Budde, Birgit; Gallacher, Lyndon; Georgomanolis, Theodoros; Ghoumid, Jamal; Hoehne, Wolfgang; Lyonnet, Stanislas; Ba-Saddik, Iman Ali; Manouvrier-Hanu, Sylvie; Motameny, Susanne; Noegel, Angelika A.; Pais, Lynn; Vanlerberghe, Clemence; Wagle, Prerana; White, Susan M.; Willems, Marjolaine; Nuernberg, Peter; Escande, Fabienne; Petit, Florence; Hussain, Muhammad Sajid
errShare
errSave

Research Directions

No research directions
Co-authors
Cooperation Journals
D
Didier Raoult
H-index: 198 · Papers: 4.0K
M
Michel C. Nussenzweig
H-index: 183 · Papers: 617
P
Philippe Gabríel Steg
H-index: 180 · Papers: 2.1K
J
Jean‐Laurent Casanova
H-index: 171 · Papers: 1.4K
T
Thomas Meitinger
H-index: 168 · Papers: 957
View more