Corrado Romano

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Coauteurs

Carmelo SchepisDirettore U.O.S.D. Dermatologia, IRCCS Oasi Maria SS.TroinaAdresse e-mail validée de oasi.en.it
Maurizio EliaOasi Research Institute - IRCCS, Troina, ItalyAdresse e-mail validée de oasi.en.it
Filippo CaraciProfessore di Farmacologia, Università di CataniaAdresse e-mail validée de unict.it
Raffaele FerriOasi Research InstituteAdresse e-mail validée de oasi.en.it
Evan EichlerProfessor of Genome Sciences, University of WashingtonAdresse e-mail validée de gs.washington.edu
jean-louis gueantInserm et Université de LorraineAdresse e-mail validée de univ-lorraine.fr
Francesco CalìAssociazione OASI M SS IRCCS Troina EN ItalyAdresse e-mail validée de oasi.en.it
Bradley P CoeLaboratory Scientist, BC Children's and Women's HospitalAdresse e-mail validée de cw.bc.ca
Frank KooyProfessor in Cognitive GeneticsAdresse e-mail validée de uantwerpen.be
lo giudice mariangelabiologo collaboratoreAdresse e-mail validée de oasi.en.it
Raphael BernierUniversity of WashingtonAdresse e-mail validée de u.washington.edu
Giovanni Battista Ferrero, D PhDProfessor of Pediatrics, Department of Clinical nd Biological Sciences, University of TorinoAdresse e-mail validée de unito.it
Joris VeltmanBiosciences Institute, Newcastle University, United KingdomAdresse e-mail validée de newcastle.ac.uk
Ambaliou SANNIProfesseur de Biochimie et de Biologie Moleculaire, Universite d'Abomey-Calvi (UAC)Adresse e-mail validée de dges-benin.net
ENRICO BERTINIHead of the Research Unit of Neuromuscular and Neurodegenerative Disorders, Ospedale PediatricoAdresse e-mail validée de opbg.net
Joseph G. GleesonUniversity of California, San DiegoAdresse e-mail validée de ucsd.edu
Regina ReganGenomics Medicine IrelandAdresse e-mail validée de genomicsmed.ie
Maria Clara BonagliaScientific Institute Eugenio MedeaAdresse e-mail validée de bp.lnf.it
Orsetta ZuffardiProfessor Emeritus of Human Genetics Department of Molecular Medicine University of Pavia ViaAdresse e-mail validée de unipv.it
Geert VandeweyerUniversity of AntwerpAdresse e-mail validée de uantwerpen.be

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Corrado Romano

Associate Professor of Medical Genetics, University of Catania

Adresse e-mail validée de oasi.en.it - Page d'accueil

Clinical Genetics Pediatrics Intellectual Disability Rare Diseases Down syndrome


Titre Trier par citations Trier par année Trier par titre	Citée par Citée par	Année
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	857	2008
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	840	2014
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	689	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	682	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	680	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	666	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	561	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	529	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	514	2006
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	373	2011
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	372	2014
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	351	2007
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	316	2008
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	315	2009
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	293	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	290	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	287	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	247	1999
Methionine synthase (MTR) 2756 (A→ G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia … P Bosco, RM Guéant‐Rodriguez, G Anello, C Barone, F Namour, F Caraci, ... American Journal of Medical Genetics Part A 121 (3), 219-224, 2003	243	2003

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