Corrado Romano

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Carmelo SchepisDirettore U.O.S.D. Dermatologia, IRCCS Oasi Maria SS.TroinaE-mail confirmado em oasi.en.it
Maurizio EliaOasi Research Institute - IRCCS, Troina, ItalyE-mail confirmado em oasi.en.it
Filippo CaraciProfessore di Farmacologia, Università di CataniaE-mail confirmado em unict.it
Raffaele FerriOasi Research InstituteE-mail confirmado em oasi.en.it
Evan EichlerProfessor of Genome Sciences, University of WashingtonE-mail confirmado em gs.washington.edu
jean-louis gueantInserm et Université de LorraineE-mail confirmado em univ-lorraine.fr
Francesco CalìAssociazione OASI M SS IRCCS Troina EN ItalyE-mail confirmado em oasi.en.it
Bradley P CoeLaboratory Scientist, BC Children's and Women's HospitalE-mail confirmado em cw.bc.ca
Frank KooyProfessor in Cognitive GeneticsE-mail confirmado em uantwerpen.be
lo giudice mariangelabiologo collaboratoreE-mail confirmado em oasi.en.it
Raphael BernierUniversity of WashingtonE-mail confirmado em u.washington.edu
Giovanni Battista Ferrero, D PhDProfessor of Pediatrics, Department of Clinical nd Biological Sciences, University of TorinoE-mail confirmado em unito.it
Joris VeltmanInstitute of Genetics & Cancer, University of Edinburgh, United KingdomE-mail confirmado em ed.ac.uk
Ambaliou SANNIProfesseur de Biochimie et de Biologie Moleculaire, Universite d'Abomey-Calvi (UAC)E-mail confirmado em dges-benin.net
ENRICO BERTINIHead of the Research Unit of Neuromuscular and Neurodegenerative Disorders, Ospedale PediatricoE-mail confirmado em opbg.net
Joseph G. GleesonUniversity of California, San DiegoE-mail confirmado em ucsd.edu
Regina ReganGenomics Medicine IrelandE-mail confirmado em genomicsmed.ie
Maria Clara BonagliaScientific Institute Eugenio MedeaE-mail confirmado em bp.lnf.it
Geert VandeweyerUniversity of AntwerpE-mail confirmado em uantwerpen.be
Céline HelsmoortelDepartment of Medical Genetics, University of Antwerp, Antwerp, BelgiumE-mail confirmado em uantwerpen.be

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Corrado Romano

Associate Professor of Medical Genetics, University of Catania

E-mail confirmado em oasi.en.it - Página inicial

Clinical Genetics Pediatrics Intellectual Disability Rare Diseases Down syndrome


Título Ordenar por citações Ordenar por ano Ordenar por título	Citado por Citado por	Ano
Disruptive CHD8 mutations define a subtype of autism early in development R Bernier, C Golzio, B Xiong, HA Stessman, BP Coe, O Penn, ... Cell 158 (2), 263-276, 2014	859	2014
Recurrent rearrangements of chromosome 1q21. 1 and variable pediatric phenotypes HC Mefford, AJ Sharp, C Baker, A Itsara, Z Jiang, K Buysse, S Huang, ... New England Journal of Medicine 359 (16), 1685-1699, 2008	858	2008
Refining analyses of copy number variation identifies specific genes associated with developmental delay BP Coe, K Witherspoon, JA Rosenfeld, BWM Van Bon, ... Nature genetics 46 (10), 1063-1071, 2014	698	2014
15q13. 3 microdeletions increase risk of idiopathic generalized epilepsy I Helbig, HC Mefford, AJ Sharp, M Guipponi, M Fichera, A Franke, ... Nature genetics 41 (2), 160-162, 2009	688	2009
PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome DJ Marsh, JB Kum, KL Lunetta, MJ Bennett, RJ Gorlin, SF Ahmed, ... Human molecular genetics 8 (8), 1461-1472, 1999	686	1999
A recurrent 16p12. 1 microdeletion supports a two-hit model for severe developmental delay S Girirajan, JA Rosenfeld, GM Cooper, F Antonacci, P Siswara, A Itsara, ... Nature genetics 42 (3), 203-209, 2010	676	2010
A recurrent 15q13. 3 microdeletion syndrome associated with mental retardation and seizures AJ Sharp, HC Mefford, K Li, C Baker, C Skinner, RE Stevenson, ... Nature genetics 40 (3), 322-328, 2008	674	2008
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases HAF Stessman, BO Xiong, BP Coe, T Wang, K Hoekzema, M Fenckova, ... Nature genetics 49 (4), 515-526, 2017	580	2017
A new chromosome 17q21. 31 microdeletion syndrome associated with a common inversion polymorphism DA Koolen, LELM Vissers, R Pfundt, N De Leeuw, SJL Knight, R Regan, ... Nature genetics 38 (9), 999-1001, 2006	524	2006
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome EM Valente, JL Silhavy, F Brancati, G Barrano, SR Krishnaswami, ... Nature genetics 38 (6), 623-625, 2006	517	2006
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP C Helsmoortel, AT Vulto-van Silfhout, BP Coe, G Vandeweyer, L Rooms, ... Nature genetics 46 (4), 380-384, 2014	378	2014
Relative burden of large CNVs on a range of neurodevelopmental phenotypes S Girirajan, Z Brkanac, BP Coe, C Baker, L Vives, TH Vu, N Shafer, ... PLoS genetics 7 (11), e1002334, 2011	374	2011
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients M De Gregori, R Ciccone, P Magini, T Pramparo, S Gimelli, J Messa, ... Journal of medical genetics 44 (12), 750-762, 2007	350	2007
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome BWM Van Bon, HC Mefford, B Menten, DA Koolen, AJ Sharp, ... Journal of medical genetics 46 (8), 511-523, 2009	319	2009
Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation A Battaglia, HE Hoyme, B Dallapiccola, E Zackai, L Hudgins, ... Pediatrics 121 (2), 404-410, 2008	313	2008
Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling LS Blok, E Madsen, J Juusola, C Gilissen, D Baralle, MRF Reijnders, ... The American Journal of Human Genetics 97 (2), 343-352, 2015	307	2015
Prevalence of methylenetetrahydrofolate reductase 677T and 1298C alleles and folate status: a comparative study in Mexican, West African, and European populations RM Guéant-Rodriguez, JL Guéant, R Debard, S Thirion, LX Hong, ... The American journal of clinical nutrition 83 (3), 701-707, 2006	291	2006
Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1 AE Lin, PH Birch, BR Korf, R Tenconi, M Niimura, M Poyhonen, ... American journal of medical genetics 95 (2), 108-117, 2000	289	2000
Sulphation deficit in “low-functioning” autistic children: a pilot study A Alberti, P Pirrone, M Elia, RH Waring, C Romano Biological psychiatry 46 (3), 420-424, 1999	260	1999
Assessment of 2q23. 1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder ME Talkowski, SV Mullegama, JA Rosenfeld, BWM Van Bon, Y Shen, ... The American Journal of human genetics 89 (4), 551-563, 2011	251	2011

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