Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits E Evangelou, HR Warren, D Mosen-Ansorena, B Mifsud, R Pazoki, H Gao, ... Nature genetics 50 (10), 1412, 2018 | 1362 | 2018 |
Rare and low-frequency coding variants alter human adult height E Marouli, M Graff, C Medina-Gomez, KS Lo, AR Wood, TR Kjaer, RS Fine, ... Nature 542 (7640), 186-190, 2017 | 679 | 2017 |
Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk HR Warren, E Evangelou, CP Cabrera, H Gao, M Ren, B Mifsud, I Ntalla, ... Nature genetics 49 (3), 403, 2017 | 624 | 2017 |
Novel blood pressure locus and gene discovery using genome-wide association study and expression data sets from blood and the kidney LV Wain, A Vaez, R Jansen, R Joehanes, PJ van der Most, ... Hypertension, HYPERTENSIONAHA. 117.09438, 2017 | 197 | 2017 |
Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients D Vozzi, A Morgan, D Vuckovic, A D'Eustacchio, K Abdulhadi, E Rubinato, ... Gene 542 (2), 209-216, 2014 | 64 | 2014 |
A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta E Rubinato, A Morgan, A D'Eustacchio, V Pecile, G Gortani, P Gasparini, ... Gene 545 (2), 290-292, 2014 | 60 | 2014 |
Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection E Athanasakis, D Licastro, F Faletra, A Fabretto, S Dipresa, D Vozzi, ... American Journal of Medical Genetics Part A 164 (1), 170-176, 2014 | 52 | 2014 |
Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss D Vuckovic, S Dawson, DI Scheffer, T Rantanen, A Morgan, M Di Stazio, ... Human molecular genetics 24 (19), 5655-5664, 2015 | 51 | 2015 |
A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways T Agnew, M Goldsworthy, C Aguilar, A Morgan, M Simon, H Hilton, ... Cell reports 25 (12), 3315-3328. e6, 2018 | 43 | 2018 |
A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss F Faletra, G Girotto, AP D'Adamo, D Vozzi, A Morgan, P Gasparini Gene 534 (2), 236-239, 2014 | 41 | 2014 |
Usher syndrome: An effective sequencing approach to establish a genetic and clinical diagnosis GG S Lenarduzzi, D Vozzi, A Morgan, E Rubinato, A D'Eustacchio, TM Osland, C ... Hearing research 320, 18-23, 2015 | 39 | 2015 |
Whole-genome sequencing reveals new insights into age-related hearing loss: cumulative effects, pleiotropy and the role of selection D Vuckovic, M Mezzavilla, M Cocca, A Morgan, M Brumat, E Catamo, ... European Journal of Human Genetics, 1, 2018 | 30 | 2018 |
Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families MK Alkowari, D Vozzi, S Bhagat, N Krishnamoorthy, A Morgan, Y Hayder, ... Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 800, 29-36, 2017 | 30 | 2017 |
Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort F Faletra, E Athanasakis, A Morgan, X Biarnés, F Fornasier, R Parini, ... Gene 521 (1), 160-165, 2013 | 30 | 2013 |
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss A Morgan, DC Koboldt, ES Barrie, ER Crist, G García García, ... Human mutation 40 (12), 2286-2295, 2019 | 29 | 2019 |
Genomic studies in a large cohort of hearing impaired Italian patients revealed several new alleles, a rare case of uniparental disomy (UPD) and the importance to search for … A Morgan, S Lenarduzzi, S Cappellani, V Pecile, M Morgutti, E Orzan, ... Frontiers in Genetics 9, 681, 2018 | 28 | 2018 |
Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss A Morgan, D Vuckovic, N Krishnamoorthy, E Rubinato, U Ambrosetti, ... European Journal of Human Genetics, 1, 2018 | 25 | 2018 |
TBL1Y: a new gene involved in syndromic hearing loss M Di Stazio, C Collesi, D Vozzi, W Liu, M Myers, A Morgan, PA D Adamo, ... European journal of human genetics: EJHG, 2018 | 23 | 2018 |
The p. Cys169Tyr variant of connexin 26 is not a polymorphism F Zonta, G Girotto, D Buratto, G Crispino, A Morgan, K Abdulhadi, ... Human molecular genetics 24 (9), 2641-2648, 2015 | 17 | 2015 |
Genetic analysis of over one million people identifies 535 novel loci for blood pressure. E Evangelou, HR Warren, D Mosen-Ansorena, B Mifsud, R Pazoki, H Gao, ... bioRxiv, 198234, 2017 | 14 | 2017 |