| Mapping the human genetic architecture of COVID-19 Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ... Nature 600 (7889), 472-477, 2021 | 478 | 2021 |
| A mutant tropomyosin that causes hypertrophic cardiomyopathy is expressed in vivo and associated with an increased calcium sensitivity R Bottinelli, DA Coviello, CS Redwood, MA Pellegrino, BJ Maron, ... Circulation Research 82 (1), 106-115, 1998 | 207 | 1998 |
| The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues S Soini, D Ibarreta, V Anastasiadou, S Aymé, S Braga, M Cornel, ... European Journal of Human Genetics 14 (5), 588-645, 2006 | 198 | 2006 |
| Clinical features of hypertrophic cardiomyopathy caused by mutation of a “hot spot” in the alpha-tropomyosin gene DA Coviello, BJ Maron, P Spirito, H Watkins, HP Vosberg, L Thierfelder, ... Journal of the American College of Cardiology 29 (3), 635-640, 1997 | 166 | 1997 |
| Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe H Skirton, C Lewis, A Kent, DA Coviello European Journal of Human Genetics 18 (9), 972-977, 2010 | 164 | 2010 |
| Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up F Magri, A Govoni, MG D’Angelo, R Del Bo, S Ghezzi, G Sandra, ... Journal of neurology 258, 1610-1623, 2011 | 163 | 2011 |
| Androgen and estrogen receptors are present in primary cultures of human synovial macrophages M Cutolo, S Accardo, B Villaggio, A Barone, A Sulli, DA Coviello, ... The Journal of Clinical Endocrinology & Metabolism 81 (2), 820-827, 1996 | 160 | 1996 |
| R990G polymorphism of calcium-sensing receptor does produce a gain-of-function and predispose to primary hypercalciuria G Vezzoli, A Terranegra, T Arcidiacono, R Biasion, D Coviello, ML Syren, ... Kidney international 71 (11), 1155-1162, 2007 | 146 | 2007 |
| Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance F Zara, N Specchio, P Striano, A Robbiano, E Gennaro, R Paravidino, ... Epilepsia 54 (3), 425-436, 2013 | 136 | 2013 |
| Banking together: a unified model of informed consent for biobanking E Salvaterra, L Lecchi, S Giovanelli, B Butti, MT Bardella, PA Bertazzi, ... EMBO reports 9 (4), 307-313, 2008 | 129 | 2008 |
| Mutation frequencies of GNAQ, GNA11, BAP1, SF3B1, EIF1AX and TERT in uveal melanoma: detection of an activating mutation in the TERT gene promoter … M Dono, G Angelini, M Cecconi, A Amaro, AI Esposito, V Mirisola, I Maric, ... British journal of cancer 110 (4), 1058-1065, 2014 | 116 | 2014 |
| ELOVL5 mutations cause spinocerebellar ataxia 38 E Di Gregorio, B Borroni, E Giorgio, D Lacerenza, M Ferrero, NL Buono, ... The American Journal of Human Genetics 95 (2), 209-217, 2014 | 115 | 2014 |
| First characterization of human amniotic fluid stem cell extracellular vesicles as a powerful paracrine tool endowed with regenerative potential C Balbi, M Piccoli, L Barile, A Papait, A Armirotti, E Principi, D Reverberi, ... Stem cells translational medicine 6 (5), 1340-1355, 2017 | 108 | 2017 |
| Whole-genome sequencing reveals host factors underlying critical COVID-19 A Kousathanas, E Pairo-Castineira, K Rawlik, A Stuckey, CA Odhams, ... Nature 607 (7917), 97-103, 2022 | 107 | 2022 |
| Provision of genetic services in Europe: current practices and issues B Godard, H Kääriäinen, U Kristoffersson, L Tranebjaerg, D Coviello, ... European Journal of Human Genetics 11 (2), S13-S48, 2003 | 105 | 2003 |
| Estradiol inhibits growth of hormone-nonresponsive PC3 human prostate cancer cells G Carruba, U Pfeffer, E Fecarotta, DA Coviello, E D'Amato, ML Casto, ... Cancer Research 54 (5), 1190-1193, 1994 | 102 | 1994 |
| Presence of estrogen‐binding sites on macrophage‐like synoviocytes and CD8+, CD29+, CD45RO+ T lymphocytes in normal and rheumatoid synovium M Cutolo, S Accardo, B Villaggio, P Clerico, M Bagnasco, DA Coviello, ... Arthritis & Rheumatism: Official Journal of the American College of …, 1993 | 101 | 1993 |
| Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3) D Degiorgio, C Colombo, M Seia, L Porcaro, L Costantino, L Zazzeron, ... European Journal of Human Genetics 15 (12), 1230-1238, 2007 | 97 | 2007 |
| A de novo mutation in α-tropomyosin that causes hypertrophic cardiomyopathy H Watkins, R Anan, DA Coviello, P Spirito, JG Seidman, CE Seidman Circulation 91 (9), 2302-2305, 1995 | 90 | 1995 |
| De novo balanced chromosome rearrangements in prenatal diagnosis D Giardino, C Corti, L Ballarati, D Colombo, E Sala, N Villa, G Piombo, ... Prenatal diagnosis 29 (3), 257-265, 2009 | 88 | 2009 |
Ulrich PfefferOspedale Policlinico San Martino, Genova, ItalyVerified email at hsanmartino.it
