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M

Massimiliano Rossi

hospices civils de lyon

41H-index
177Paper Count
4.8KCitation Count
Published Papers 58
Publication Date
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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
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DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals
errEuropean Journal of Human Genetics
IF4.6
err2026-03-25
err0
PREAI
errQuentin Sabbagh; Camille Cenni; Sadegheh Haghshenas; Jean-Luc Alessandri; Mads Bak; Allan Bayat; Mouna Barat-Houari; Alfredo Brusco; Tiffany Busa; Anaïs Calaya; Paige Calvert; Valérie Cormier-Daire; Christine Coubes; Yannis Duffourd; Giovanni B. Ferrero; Anne Guimier; Damien Haye; Tina Duelund Hjortshøj; Laetitia Lambert; Karen Bonde Larsen; Carolyn Lauzon-Young; Gaetan Lesca; Nicolas Chatron; Michael A. Levy; Diego Lopergolo; Henri Margot; Haley McConkey; Pauline Monin; Godelieve Morel; Sophie Naudion; Mathilde Nizon; Sylvie Odent; Lucile Pinson; Linda Pons; Audrey Putoux; Marlène Rio; Massimiliano Rossi; Lucie Rouaux; Flavien Rouxel; Nathalie Ruiz-Pallares; Elodie Sanchez; Stefano Pagano; Filippo M. Santorelli; Clément Sauvestre; Jennifer C. Schymick; Victoria Mok Siu; Marta Spodenkiewicz; Matthew Tedder; Mylène Tharreau; Frédéric Tran Mau-Them; Zeynep Tümer; Irene Valenzuela; Julien Van Gils; Marjolaine Willems; Aron Kirchhoff; Peter Krawitz; Jennifer Kerkhof; Janneke H. M. Schuurs-Hoeijmakers; Bekim Sadikovic; David Geneviève
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Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans
errNature Communications
IF15.7
err2026-01-13
err0
errOAAI
errClaudia M. Bonardi; Rikke S. Møller; Nuria Ruiz-Reig; Guoliang Chai; Camilla G. Madsen; Allan Bayat; Trine B. Hammer; Christina D. Fenger; Elena Gardella; Pawel Gawlinski; Mateusz Dawidziuk; Wojciech Wiszniewski; Monika Bekiesinska-Figatowska; Sara Cabet; Massimiliano Rossi; Gaetan Lesca; Evan Gouy; Birgit Jepsen; Tomasz S. Mieszczanek; Rossana Sanchez Russo; Eileen E. Barr; Katrin Õunap; Pilvi Ilves; Monica H. Wojcik; Mohamed Aittaleb; Klaus Brusgaard; Fadel Tissir; Guido Rubboli
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Impact of SMAD6 Variants on Neurodevelopment in Craniosynostosis
errJOURNAL OF CRANIOFACIAL SURGERY
IF1
err2025-11-01
err0
PREAI
errVerlut, Isabelle; Guernouche, Sofia; Rossi, Massimiliano; Szathmari, Alexandru; Beuriat, Pierre A.; Chatron, Nicolas; Chauvel-Picard, Julie; Mottolese, Carmine; Monin, Pauline; Vinchon, Matthieu; Collet, Corinne; Di Rocco, Federico
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Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene
errCALCIFIED TISSUE INTERNATIONAL
IF3.2
err2024-09-24
err0
PREAI
errMancini, Maxence; Chapurlat, Roland; Isidor, Bertrand; Desjonqueres, Marine; Couture, Guillaume; Guggenbuhl, Pascal; Coutant, Regis; El Chehadeh, Salima; Fradin, Melanie; Frazier, Aline; Goldenberg, Alice; Guillot, Pascaline; Koumakis, Eugenie; Mehsen-Cetre, Nadia; Rossi, Massimiliano; Schaefer, Elise; Sigaudy, Sabine; Porquet-Bordes, Valerie; Fontanges, Elisabeth; Letard, Pauline; Edouard, Thomas; Javier, Rose-Marie; Cohen-Solal, Martine; Funck-Brentano, Thomas; Collet, Corinne
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Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-05-27
err0
errOAAI
errViora-Dupont, Eleonore; Robert, Francoise; Chassagne, Aline; Pelissier, Aurore; Staraci, Stephanie; Sanlaville, Damien; Edery, Patrick; Lesca, Gaetan; Putoux, Audrey; Pons, Linda; Cadenes, Amandine; Baurand, Amandine; Sawka, Caroline; Bertolone, Geoffrey; Spetchian, Myrtille; Yousfi, Meriem; Salvi, Dominique; Gautier, Elodie; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie; Bruel, Ange-Line; Tran Mau-Them, Frederic; Faudet, Anne; Keren, Boris; Labalme, Audrey; Chatron, Nicolas; Abel, Carine; Dupuis-Girod, Sophie; Poisson, Alice; Buratti, Julien; Mignot, Cyril; Afenjar, Alexandra; Whalen, Sandra; Charles, Perrine; Heide, Solveig; Mouthon, Linda; Moutton, Sebastien; Sorlin, Arthur; Nambot, Sophie; Briffaut, Anne-Sophie; Asensio, Marie-Laure; Philippe, Christophe; Thauvin-Robinet, Christel; Heron, Delphine; Rossi, Massimiliano; Meunier-Bellard, Nicolas; Gargiulo, Marcela; Peyron, Christine; Binquet, Christine; Faivre, Laurence
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Long-term follow-up of severe autosomal recessive SP7-related bone disorder
errBONE
IF3.6
err2024-02-01
err2
PREAI
errGauthier, Lucas W.; Fontanges, Elisabeth; Chapurlat, Roland; Collet, Corinne; Rossi, Massimiliano
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Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome
errMOLECULAR PSYCHIATRY
IF10.1
err2023-11-29
err1
errOAAI
errCourraud, Jeremie; Engel, Camille; Quartier, Angelique; Drouot, Nathalie; Houessou, Ursula; Plassard, Damien; Sorlin, Arthur; Brischoux-Boucher, Elise; Gouy, Evan; Van Maldergem, Lionel; Rossi, Massimiliano; Lesca, Gaetan; Edery, Patrick; Putoux, Audrey; Bilan, Frederic; Gilbert-Dussardier, Brigitte; Atallah, Isis; Kalscheuer, Vera M.; Mandel, Jean-Louis; Piton, Amelie
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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
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Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2023-09-21
err7
PREAI
errMarzin, Pauline; Rondeau, Sophie; Alessandri, Jean-Luc; Dieterich, Klaus; le Goff, Carine; Mahaut, Clementine; Mercier, Sandra; Michot, Caroline; Moldovan, Oana; Miolo, Gianmaria; Rossi, Massimiliano; Van-Gils, Julien; Francannet, Christine; Robert, Matthieu; Jais, Jean-Philippe; Huber, Celine; Cormier-Daire, Valerie
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Clinical interest of molecular study in cases of isolated midline craniosynostosis
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2023-02-03
err9
errOAAI
errDi Rocco, Federico; Rossi, Massimiliano; Verlut, Isabelle; Szathmari, Alexandru; Beuriat, Pierre Aurelien; Chatron, Nicolas; Chauvel-Picard, Julie; Mottolese, Carmine; Monin, Pauline; Vinchon, Matthieu; Guernouche, Sofia; Collet, Corinne
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CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature
errGENETICS IN MEDICINE
IF6.2
err2022-05-01
err10
errOAAI
errRouxel, Flavien; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Levy, Michael; Dias, Patricia; Barat-Houari, Mouna; Bednarek, Nathalie; Boute, Odile; Chatron, Nicolas; Cherik, Florian; Delahaye-Duriez, Andree; Doco-Fenzy, Martine; Faivre, Laurence; Gauthier, Lucas W.; Heron, Delphine; Hildebrand, Michael S.; Lesca, Gaetan; Lespinasse, James; Mazel, Benoit; Menke, Leonie A.; Morgan, Angela T.; Pinson, Lucile; Quelin, Chloe; Rossi, Massimiliano; Ruiz-Pallares, Nathalie; Tran-Mau-Them, Frederic; Van Kessel, Imke N.; Vincent, Marie; Weber, Mathys; Willems, Marjolaine; Leguyader, Gwenael; Sadikovic, Bekim; Genevieve, David
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Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies
errTHERAPEUTIC ADVANCES IN MUSCULOSKELETAL DISEASE
IF4.1
err2022-03-21
err27
errOAAI
errSavarirayan, Ravi; De Bergua, Josep Maria; Arundel, Paul; McDevitt, Helen; Cormier-Daire, Valerie; Saraff, Vrinda; Skae, Mars; Delgado, Borja; Leiva-Gea, Antonio; Santos-Simarro, Fernando; Salles, Jean Pierre; Nicolino, Marc; Rossi, Massimiliano; Kannu, Peter; Bober, Michael B.; Phillips, John, III; Saal, Howard; Harmatz, Paul; Burren, Christine; Gotway, Garrett; Cho, Terry; Muslimova, Elena; Weng, Richard; Rogoff, Daniela; Hoover-Fong, Julie; Irving, Melita
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10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2021-08-04
err1
errOAAI
errMessiaen, Claude; Racin, Caroline; Khatim, Ahlem; Soussand, Louis; Odent, Sylvie; Lacombe, Didier; Manouvrier, Sylvie; Edery, Patrick; Sigaudy, Sabine; Genevieve, David; Thauvin-Robinet, Christel; Pasquier, Laurent; Petit, Florence; Rossi, Massimiliano; Willems, Marjolaine; Attie-Bitach, Tania; Roux-Levy, Pierre-Henry; Demougeot, Laurent; Ben Slama, Lilia; Landais, Paul; Jannot, Anne-Sophie; Binquet, Christine; Sandrin, Arnaud; Verloes, Alain; Faivre, Laurence
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Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review
errBMC PSYCHIATRY
IF3.6
err2021-07-17
err1
errOAAI
errGauld, Christophe; Poisson, Alice; Reversat, Julie; Peyroux, Elodie; Houdayer-robert, Francoise; Rossi, Massimiliano; Lesca, Gaetan; Sanlaville, Damien; Demily, Caroline
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KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum
errBRAIN
IF11.7
err2021-06-11
err40
errOAAI
errBonardi, Claudia M.; Heyne, Henrike O.; Fiannacca, Martina; Fitzgerald, Mark P.; Gardella, Elena; Gunning, Boudewijn; Olofsson, Kern; Lesca, Gaetan; Verbeek, Nienke; Stamberger, Hannah; Striano, Pasquale; Zara, Federico; Mancardi, Maria M.; Nava, Caroline; Syrbe, Steffen; Buono, Salvatore; Baulac, Stephanie; Coppola, Antonietta; Weckhuysen, Sarah; Schoonjans, An-Sofie; Ceulemans, Berten; Sarret, Catherine; Baumgartner, Tobias; Muhle, Hiltrud; des Portes, Vincent; Toulouse, Joseph; Nougues, Marie-Christine; Rossi, Massimiliano; Demarquay, Genevieve; Ville, Dorothee; Hirsch, Edouard; Maurey, Helene; Willems, Marjolaine; de Bellescize, Julitta; Altuzarra, Cecilia Desmettre; Villeneuve, Nathalie; Bartolomei, Fabrice; Picard, Fabienne; Hornemann, Frauke; Koolen, David A.; Kroes, Hester Y.; Reale, Chiara; Fenger, Christina D.; Tan, Wen-Hann; Dibbens, Leanne; Bearden, David R.; Moller, Rikke S.; Rubboli, Guido
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Clinical delineation of SETBP1 haploinsufficiency disorder
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2021-04-19
err20
errOAAI
errJansen, Nadieh A.; Braden, Ruth O.; Srivastava, Siddharth; Otness, Erin F.; Lesca, Gaetan; Rossi, Massimiliano; Nizon, Mathilde; Bernier, Raphael A.; Quelin, Chloe; van Haeringen, Arie; Kleefstra, Tjitske; Wong, Maggie M. K.; Whalen, Sandra; Fisher, Simon E.; Morgan, Angela T.; van Bon, Bregje W.
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NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
errGENETICS IN MEDICINE
IF6.2
err2021-02-01
err41
errOAAI
errStamberger, Hannah; Hammer, Trine B.; Gardella, Elena; Vlaskamp, Danique R. M.; Bertelsen, Birgitte; Mandelstam, Simone; de Lange, Iris; Zhang, Jing; Myers, Candace T.; Fenger, Christina; Afawi, Zaid; Fuerte, Edith P. Almanza; Andrade, Danielle M.; Balcik, Yunus; Ben Zeev, Bruria; Bennett, Mark F.; Berkovic, Samuel F.; Isidor, Bertrand; Bouman, Arjan; Brilstra, Eva; Busk, Oyvind L.; Cairns, Anita; Caumes, Roseline; Chatron, Nicolas; Dale, Russell C.; de Geus, Christa; Edery, Patrick; Gill, Deepak; Granild-Jensen, Jacob Bie; Gunderson, Lauren; Gunning, Boudewijn; Heimer, Gali; Helle, Johan R.; Hildebrand, Michael S.; Hollingsworth, Georgie; Kharytonov, Volodymyr; Klee, Eric W.; Koeleman, Bobby P. C.; Koolen, David A.; Korff, Christian; Kury, Sebastien; Lesca, Gaetan; Lev, Dorit; Leventer, Richard J.; Mackay, Mark T.; Macke, Erica L.; McEntagart, Meriel; Mohammad, Shekeeb S.; Monin, Pauline; Montomoli, Martino; Morava, Eva; Moutton, Sebastien; Muir, Alison M.; Parrini, Elena; Procopis, Peter; Ranza, Emmanuelle; Reed, Laura; Reif, Philipp S.; Rosenow, Felix; Rossi, Massimiliano; Sadleir, Lynette G.; Sadoway, Tara; Schelhaas, Helenius J.; Schneider, Amy L.; Shah, Krati; Shalev, Ruth; Sisodiya, Sanjay M.; Smol, Thomas; Stumpel, Connie T. R. M.; Stuurman, Kyra; Symonds, Joseph D.; Mau-Them, Frederic Tran; Verbeek, Nienke; Verhoeven, Judith S.; Wallace, Geoffrey; Yosovich, Keren; Zarate, Yuri A.; Zerem, Ayelet; Zuberi, Sameer M.; Guerrini, Renzo; Mefford, Heather C.; Patel, Chirag; Zhang, Yue-Hua; Moller, Rikke S.; Scheffer, Ingrid E.
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Mandibular-pelvic-patellar syndrome is a novelPITX1-related disorder due to alteration of PITX1 transactivation ability
errHUMAN MUTATION
IF3.7
err2020-07-15
err3
PREAI
errMorel, Godelieve; Duhamel, Celine; Boussion, Simon; Frenois, Frederic; Lesca, Gaetan; Chatron, Nicolas; Labalme, Audrey; Sanlaville, Damien; Edery, Patrick; Thevenon, Julien; Faivre, Laurence; Fassier, Alice; Prodhomme, Olivier; Escande, Fabienne; Manouvrier, Sylvie; Petit, Florence; Genevieve, David; Rossi, Massimiliano
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Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2020-04-25
err22
errOAAI
errSmith, Michael; Alexander, Elizabeth; Marcinkute, Ruta; Dan, Dorica; Rawson, Myfanwy; Banka, Siddharth; Gavin, Jason; Mina, Hany; Hennessy, Con; Riccardi, Florence; Radio, Francesca Clementina; Havlovicova, Marketa; Cassina, Matteo; Chirita-Emandi, Adela; Fradin, Melanie; Gompertz, Lianne; Nordgren, Ann; Traberg, Rasa; Rossi, Massimiliano; Trimouille, Aurelien; Sowmyalakshmi, Rasika; Dallapiccola, Bruno; Renieri, Alessandra; Faivre, Laurence; Kerr, Bronwyn; Verloes, Alain; Clayton-Smith, Jill; Douzgou, Sofia
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Research Directions

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Co-authors
Cooperation Journals
A
Arnold Münnich
H-index: 129 · Papers: 959
X
Xavier Estivill
H-index: 128 · Papers: 869
W
William B. Dobyns
H-index: 127 · Papers: 600
A
Andrea Ballabio
H-index: 120 · Papers: 586
V
Valérie Cormier‐Daire
H-index: 99 · Papers: 1.1K
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