| A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4) CJ Gallione, GM Repetto, E Legius, AK Rustgi, SL Schelley, S Tejpar, ... The Lancet 363 (9412), 852-859, 2004 | 868 | 2004 |
| Direct Gene Transfer into Nonhuman Primate Myofibers In Vivo S Jiao, P Williams, RK Berg, BA Hodgeman, L Liu, G Repetto, JA Wolff Human Gene Therapy 3 (1), 21-33, 1992 | 404 | 1992 |
| Genetic modifiers of liver disease in cystic fibrosis JR Bartlett, KJ Friedman, SC Ling, RG Pace, SC Bell, B Bourke, ... Jama 302 (10), 1076-1083, 2009 | 351 | 2009 |
| Practical guidelines for managing adults with 22q11. 2 deletion syndrome WLA Fung, NJ Butcher, G Costain, DM Andrade, E Boot, EWC Chow, ... Genetics in Medicine 17 (8), 599-609, 2015 | 312 | 2015 |
| The genetic basis of DOORS syndrome: an exome-sequencing study PM Campeau, D Kasperaviciute, JT Lu, LC Burrage, C Kim, M Hori, ... The Lancet Neurology 13 (1), 44-58, 2014 | 294 | 2014 |
| Expression of naked plasmids by cultured myotubes and entry of plasmids into T tubules and caveolae of mammalian skeletal muscle JA Wolff, ME Dowty, S Jiao, G Repetto, RK Berg, JJ Ludtke, P Williams, ... Journal of Cell Science 103 (4), 1249-1261, 1992 | 292 | 1992 |
| Pathogenesis of preeclampsia: the genetic component FJ Valenzuela, A Pérez-Sepúlveda, MJ Torres, P Correa, GM Repetto, ... Journal of pregnancy 2012 (1), 632732, 2012 | 213 | 2012 |
| Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes HE Shamseldin, M Alshammari, T Al-Sheddi, MA Salih, H Alkhalidi, ... Journal of medical genetics 49 (4), 234-241, 2012 | 205 | 2012 |
| Genetic structure characterization of Chileans reflects historical immigration patterns S Eyheramendy, FI Martinez, F Manevy, C Vial, GM Repetto Nature communications 6 (1), 6472, 2015 | 168 | 2015 |
| TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features S Balestrini, M Milh, C Castiglioni, K Lüthy, MJ Finelli, P Verstreken, ... Neurology 87 (1), 77-85, 2016 | 129 | 2016 |
| Genetic contributors to risk of schizophrenia in the presence of a 22q11. 2 deletion I Cleynen, W Engchuan, MS Hestand, T Heung, AM Holleman, ... Molecular psychiatry 26 (8), 4496-4510, 2021 | 125 | 2021 |
| Using common genetic variation to examine phenotypic expression and risk prediction in 22q11. 2 deletion syndrome RW Davies, AM Fiksinski, EJ Breetvelt, NM Williams, SR Hooper, ... Nature medicine 26 (12), 1912-1918, 2020 | 122 | 2020 |
| Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization GM Repetto, LM White, PJ Bader, D Johnson, JHM Knoll American journal of medical genetics 79 (2), 82-89, 1998 | 116 | 1998 |
| Rare genome-wide copy number variation and expression of schizophrenia in 22q11. 2 deletion syndrome AS Bassett, C Lowther, D Merico, G Costain, EWC Chow, ... American Journal of Psychiatry 174 (11), 1054-1063, 2017 | 99 | 2017 |
| Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study GM Repetto, ML Guzmán, I Delgado, H Loyola, M Palomares, G Lay-Son, ... BMJ open 4 (11), e005041, 2014 | 79 | 2014 |
| Mapping subcortical brain alterations in 22q11. 2 deletion syndrome: Effects of deletion size and convergence with idiopathic neuropsychiatric illness CRK Ching, BA Gutman, D Sun, J Villalon Reina, A Ragothaman, D Isaev, ... American Journal of Psychiatry 177 (7), 589-600, 2020 | 74 | 2020 |
| Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes RKSM Isabel Huang-Doran, Louise S. Bicknell, Francis M Diabetes 60 (3), 925-935, 2011 | 73 | 2011 |
| Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping results R Dorfman, W Li, L Sun, F Lin, Y Wang, A Sandford, PD Paré, K McKay, ... Human genetics 126, 763-778, 2009 | 73 | 2009 |
| Consenso nacional de fibrosis quística I Sánchez, MA Pérez, ML Boza, V Lezana, MA Vila, G Repetto, ... Revista chilena de pediatría 72 (4), 356-380, 2001 | 68 | 2001 |
| Later‐onset congenital central hypoventilation syndrome due to a heterozygous 24‐polyalanine repeat expansion mutation in the PHOX2B gene GM Repetto, RJ Corrales, SG Abara, L Zhou, EM Berry‐Kravis, CM Rand, ... Acta paediatrica 98 (1), 192-195, 2009 | 65 | 2009 |
Cecilia VialAssociate Professor, Universidad del DesarrolloVerified email at udd.cl