| 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 | 816 | 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 | 718 | 2014 |
| 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 | 647 | 1999 |
| 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 | 644 | 2009 |
| 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 | 632 | 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 | 627 | 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 | 570 | 2014 |
| 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 | 498 | 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 | 479 | 2006 |
| 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 | 435 | 2017 |
| 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 | 341 | 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 | 325 | 2007 |
| 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 | 298 | 2014 |
| 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 | 294 | 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 | 278 | 2008 |
| Prevalence of methylenetetrahydrofolate reductase 677T and 1298C alleles and folate status: a comparative study in Mexican, West African, and European … RM Guéant-Rodriguez, JL Guéant, R Debard, S Thirion, LX Hong, ... The American journal of clinical nutrition 83 (3), 701-707, 2006 | 275 | 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 | 266 | 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 | 244 | 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 | 236 | 2003 |
| 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 | 235 | 2015 |
Carmelo SchepisDirettore U.O.S.D. Dermatologia, IRCCS Oasi Maria SS.TroinaVerified email at oasi.en.it
