F. Giuliano's Profile

Role	Title	Level	Year	L/R
🐜	Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments 61 auth. C. Leblond, C. Nava, A. Polge, J. Gauthier, G. Huguet, S. Lumbroso, F. Giuliano, C. Stordeur, C. Depienne, K. Mouzat, C. Leblond, D. Pinto, J. Howe, Nathalie Lemière, C. Durand, ... J. Guibert, Elodie Ey, R. Toro, H. Peyre, A. Mathieu, F. Amsellem, M. Råstam, I. Gillberg, G. Rappold, R. Holt, A. Monaco, E. Maestrini, P. Galan, D. Heron, A. Jacquette, A. Afenjar, Agnès Rastetter, A. Brice, F. Devillard, B. Assouline, F. Laffargue, J. Lespinasse, J. Chiésa, F. Rivier, D. Bonneau, B. Regnault, D. Zélénika, M. Delepine, M. Lathrop, D. Sanlaville, C. Schluth-Bolard, P. Edery, L. Perrin, A. Tabet, M. Schmeisser, T. Boeckers, M. Coleman, Daisuke Sato, P. Szatmari, S. Scherer, G. Rouleau, C. Betancur, M. Leboyer, C. Gillberg, R. Delorme, T. Bourgeron	9	2014	9 🐜
🐜	Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. 17 auth. C. Navarro, J. Cadiñanos, Annachiara De Sandre-Giovannoli, R. Bernard, S. Courrier, I. Boccaccio, A. Boyer, W. Kleijer, A. Wagner, F. Giuliano, ... F. Beemer, J. Freije, P. Cau, R. Hennekam, C. López-Otín, C. Badens, N. Lévy	8	2005	8 🐜
🐜	The three stages of epilepsy in patients with CDKL5 mutations 18 auth. N. Bahi-Buisson, A. Kaminska, N. Boddaert, M. Rio, A. Afenjar, M. Gérard, F. Giuliano, J. Motte, D. Heron, Marie Ange N'Guyen Morel, ... P. Plouin, C. Richelme, V. des Portes, O. Dulac, C. Philippe, C. Chiron, R. Nabbout, T. Bienvenu	7	2008	7 🐜
🐜	The genetic basis of DOORS syndrome: an exome-sequencing study 41 auth. Philippe M. Campeau, Dalia Kasperavičiūtė, James T. Lu, L. Burrage, Choel Kim, M. Hori, B. Powell, F. Stewart, T. Félix, J. van den Ende, M. Wiśniewska, H. Kayserili, P. Rump, S. Nampoothiri, S. Aftimos, ... A. Mey, L. D. Nair, M. Begleiter, I. De Bie, G. Meenakshi, Mitzi L. Murray, G. Repetto, M. Golabi, E. Blair, Alison M. Male, F. Giuliano, A. Kariminejad, W. Newman, S. Bhaskar, Jonathan E. Dickerson, B. Kerr, S. Banka, J. Giltay, D. Wieczorek, A. Tostevin, Joanna Wiszniewska, S. Cheung, R. Hennekam, R. Gibbs, Brendan H. Lee, S. Sisodiya	7	2014	7 🐜
🐜	Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2 41 auth. N. Bögershausen, V. Gatinois, V. Riehmer, H. Kayserili, J. Becker, M. Thoenes, P. Simsek-Kiper, M. Barat‐Houari, N. Elcioglu, D. Wieczorek, S. Tinschert, G. Sarrabay, T. Strom, A. Fabre, G. Baynam, ... E. Sanchez, G. Nürnberg, U. Altunoğlu, Y. Capri, B. Isidor, D. Lacombe, Carole Corsini, V. Cormier-Daire, D. Sanlaville, F. Giuliano, K. Le Quan Sang, H. Kayirangwa, P. Nürnberg, T. Meitinger, K. Boduroğlu, B. Zoll, S. Lyonnet, A. Tzschach, A. Verloes, N. Di Donato, I. Touitou, C. Netzer, Yun Li, D. Geneviève, G. Yigit, B. Wollnik	7	2016	7 🐜
🐜	Treacher Collins syndrome: a clinical and molecular study based on a large series of patients 56 auth. M. Vincent, D. Geneviève, A. Ostertag, S. Marlin, D. Lacombe, D. Martin‐Coignard, C. Coubes, A. David, S. Lyonnet, C. Vilain, A. Dieux-Coeslier, S. Manouvrier, B. Isidor, M. Jacquemont, S. Julia, ... V. Layet, Sophie Naudion, S. Odent, L. Pasquier, S. Pelras, N. Philip, G. Pierquin, F. Prieur, N. Aboussair, T. Attié-Bitach, G. Baujat, P. Blanchet, C. Blanchet, H. Dollfus, B. Doray, E. Schaefer, P. Edery, F. Giuliano, A. Goldenberg, C. Goizet, A. Guichet, C. Herlin, L. Lambert, B. Leheup, J. Martinovic, S. Mercier, C. Mignot, M. Moutard, M. Perez, L. Pinson, J. Puechberty, M. Willems, H. Randrianaivo, Kateline Szaskon, A. Toutain, A. Verloes, J. Vigneron, E. Sanchez, P. Sarda, J. Laplanche, C. Collet	7	2015	7 🐜
🐜	Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases 52 auth. A. Verloes, N. Di Donato, Julien Masliah-Planchon, M. Jongmans, Omar A Abdul-Raman, B. Albrecht, J. Allanson, H. Brunner, D. Bertola, N. Chassaing, A. David, K. Devriendt, P. Eftekhari, V. Drouin‐Garraud, F. Faravelli, ... L. Faivre, F. Giuliano, Leina Guion Almeida, J. Juncos, M. Kempers, H. K. Eker, D. Lacombe, A. Lin, G. Mancini, D. Melis, C. Lourenço, V. Siu, G. Morin, M. Nezarati, M. Nowaczyk, J. Ramer, S. Osimani, N. Philip, M. Pierpont, V. Procaccio, Zeichi-Seide Roseli, M. Rossi, C. Rusu, Y. Sznajer, L. Templin, V. Uliana, M. Klaus, B. V. van Bon, C. V. van Ravenswaaij, B. Wainer, A. Fry, A. Rump, A. Hoischen, S. Drunat, J. Rivière, W. Dobyns, D. Pilz	6	2014	6 🐜
🐜	Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype–Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome 35 auth. Mark T. Handley, D. Morris-Rosendahl, Stephen Brown, F. Macdonald, C. Hardy, D. Bem, Sarah M Carpanini, G. Borck, L. Martorell, C. Izzi, F. Faravelli, P. Accorsi, L. Pinelli, L. Basel‐Vanagaite, G. Peretz, ... G. Abdel-Salam, M. Zaki, A. Jansen, D. Mowat, I. Glass, H. Stewart, G. Mancini, D. Lederer, T. Roscioli, F. Giuliano, A. Plomp, A. Rolfs, J. Graham, E. Seemanová, P. Póo, À. García-Cazorla, P. Edery, I. Jackson, E. Maher, I. Aligianis	6	2013	6 🐜
🐜	Novel comprehensive diagnostic strategy in Pitt–Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum 37 auth. S. Whalen, D. Heron, Thierry Gaillon, O. Moldovan, M. Rossi, F. Devillard, F. Giuliano, G. Soares, M. Mathieu-Dramard, A. Afenjar, P. Charles, C. Mignot, L. Burglen, L. Van Maldergem, J. Piard, ... S. Aftimos, G. Mancini, P. Dias, N. Philip, A. Goldenberg, M. le Merrer, M. Rio, D. Josifova, J. M. van Hagen, D. Lacombe, P. Edery, S. Dupuis-Girod, A. Putoux, D. Sanlaville, R. Fischer, L. Drévillon, A. Briand-Suleau, C. Métay, M. Goossens, J. Amiel, A. Jacquette, I. Giurgea	6	2012	6 🐜
🐜	A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement 55 auth. Megana K. Prasad, Véronique Geoffroy, S. Vicaire, B. Jost, Michael Dumas, Stéphanie Le Gras, Marzena Switala, B. Gasse, V. Laugel-Haushalter, M. Paschaki, B. Leheup, D. Droz, Amélie Dalstein, A. Loing, B. Grollemund, ... M. Muller-Bolla, S. Lopez-Cazaux, Maryline Minoux, Sophie Jung, F. Obry, Vincent Vogt, J. Davideau, T. Davit‐Béal, Ann-Sophie Kaiser, U. Moog, Béatrice Richard, J. Morrier, J. Duprez, S. Odent, I. Bailleul-Forestier, M. Rousset, Laure Merametdijan, A. Toutain, C. Joseph, F. Giuliano, Jean-Christophe Dahlet, Aymeric Courval, M. El Alloussi, S. Laouina, S. Soskin, N. Guffon, A. Dieux, B. Doray, Stephanie Feierabend, E. Ginglinger, B. Fournier, Muriel de La Dure– Molla, Y. Alembik, C. Tardieu, F. Clauss, A. Berdal, C. Stoetzel, M. Manière, H. Dollfus, A. Bloch-Zupan	6	2015	6 🐜
🐜	Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia 30 auth. N. Chassaing, A. Causse, A. Vigouroux, A. Delahaye, A. Delahaye, J. Alessandri, O. Boespflug-Tanguy, O. Boute‐Bénéjean, H. Dollfus, B. Duban‐Bedu, B. Gilbert-Dussardier, F. Giuliano, Marie Gonzales, M. Holder‐Espinasse, B. Isidor, ... M. Jacquemont, Didier Lacombe, D. Martin‐Coignard, M. Mathieu-Dramard, S. Odent, Olivier Picone, L. Pinson, C. Quélin, S. Sigaudy, A. Toutain, Christel Thauvin-Robinet, Josseline Kaplan, Josseline Kaplan, Josseline Kaplan, P. Calvas	6	2014	6 🐜