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| Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function C Pattaro, A Teumer, M Gorski, AY Chu, M Li, V Mijatovic, M Garnaas, ... Nature communications 7 (1), 10023, 2016 | 472 | 2016 |
| EDA2R is associated with androgenetic alopecia DA Prodi, N Pirastu, G Maninchedda, A Sassu, A Picciau, MA Palmas, ... Journal of Investigative Dermatology 128 (9), 2268-2270, 2008 | 123 | 2008 |
| A 24-bp duplication in exon 10 of human chitotriosidase gene from the sub-Saharan to the Mediterranean area: role of parasitic diseases and environmental conditions L Malaguarnera, J Simpore, DA Prodi, A Angius, A Sassu, I Persico, ... Genes & Immunity 4 (8), 570-574, 2003 | 109 | 2003 |
| A genomewide search using an original pairwise sampling approach for large genealogies identifies a new locus for total and low-density lipoprotein cholesterol in two … M Falchi, P Forabosco, E Mocci, CC Borlino, A Picciau, E Virdis, I Persico, ... The American Journal of Human Genetics 75 (6), 1015-1031, 2004 | 67 | 2004 |
| Identification of a founder BRCA2 mutation in Sardinia M Pisano, A Cossu, I Persico, G Palmieri, A Angius, G Casu, G Palomba, ... British journal of cancer 82 (3), 553-559, 2000 | 59 | 2000 |
| Extent of linkage disequilibrium in a Sardinian sub-isolate: sampling and methodological considerations A Tenesa, AF Wright, SA Knott, AD Carothers, C Hayward, A Angius, ... Human Molecular Genetics 13 (1), 25-33, 2004 | 45 | 2004 |
| Not all isolates are equal: linkage disequilibrium analysis on Xq13. 3 reveals different patterns in Sardinian sub-populations A Angius, D Bebbere, E Petretto, M Falchi, P Forabosco, G Maestrale, ... Human genetics 111, 9-15, 2002 | 45 | 2002 |
| Bi-allelic mutations in KLHL7 cause a Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa A Angius, P Uva, I Buers, M Oppo, A Puddu, S Onano, I Persico, A Loi, ... The American Journal of Human Genetics 99 (1), 236-245, 2016 | 42 | 2016 |
| High differentiation among eight villages in a secluded area of Sardinia revealed by genome-wide high density SNPs analysis G Pistis, I Piras, N Pirastu, I Persico, A Sassu, A Picciau, D Prodi, ... PloS one 4 (2), e4654, 2009 | 41 | 2009 |
| Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report RM Alves, P Uva, MF Veiga, M Oppo, FCR Zschaber, G Porcu, HP Porto, ... BMC Medical Genetics 20, 1-7, 2019 | 22 | 2019 |
| BRCA1 and BRCA2 germline mutations in Sardinian breast cancer families and their implications for genetic counseling G Palmieri, G Palomba, A Cossu, M Pisano, MF Dedola, MG Sarobba, ... Annals of oncology 13 (12), 1899-1907, 2002 | 22 | 2002 |
| Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP A Angius, P Uva, M Oppo, I Persico, S Onano, S Olla, V Pes, C Perria, ... American Journal of Medical Genetics Part A 179 (4), 634-638, 2019 | 20 | 2019 |
| Landscape of transcriptome variations uncovering known and novel driver events in colorectal carcinoma G Pira, P Uva, AM Scanu, PC Rocca, L Murgia, E Uleri, C Piu, A Porcu, ... Scientific Reports 10 (1), 432, 2020 | 19 | 2020 |
| Crisponi/cold‐induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts I Buers, I Persico, L Schöning, Y Nitschke, M Di Rocco, A Loi, PK Sahi, ... Clinical Genetics 97 (1), 209-221, 2020 | 18 | 2020 |
| Patterns of linkage disequilibrium between SNPs in a Sardinian population isolate and the selection of markers for association studies A Angius, FCL Hyland, I Persico, N Pirastu, T Woodage, M Pirastu, ... Human Heredity 65 (1), 9-22, 2007 | 18 | 2007 |
| Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome A Angius, S Cossu, P Uva, M Oppo, S Onano, I Persico, G Fotia, R Atzeni, ... Clinical genetics 93 (6), 1245-1247, 2018 | 17 | 2018 |
| Molecular characterization of β-thalassemia mutations in Central Vietnam MG Doro, G Casu, L Frogheri, I Persico, LPM Triet, PTT Hoa, NH Hoang, ... Hemoglobin 41 (2), 96-99, 2017 | 17 | 2017 |
| Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion IAM Schierz, G Serra, V Antona, I Persico, G Corsello, E Piro Clinical Dysmorphology 29 (3), 141-143, 2020 | 16 | 2020 |
| Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations E Mocci, MP Concas, M Fanciulli, N Pirastu, M Adamo, V Cabras, ... BMC Medical Genetics 10, 1-13, 2009 | 14 | 2009 |
