| Epigenetic differences arise during the lifetime of monozygotic twins MF Fraga, E Ballestar, MF Paz, S Ropero, F Setien, ML Ballestar, ... Proceedings of the National Academy of Sciences 102 (30), 10604-10609, 2005 | 4373 | 2005 |
| Practical guidelines for managing patients with 22q11. 2 deletion syndrome AS Bassett, DM McDonald-McGinn, K Devriendt, MC Digilio, ... The Journal of pediatrics 159 (2), 332-339. e1, 2011 | 678 | 2011 |
| 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 | 109 | 2021 |
| Spectrum of Mutations in the CFTR Gene in Cystic Fibrosis Patients of Spanish Ancestry MJ Alonso, D Heine‐Suñer, M Calvo, J Rosell, J Giménez, MD Ramos, ... Annals of human genetics 71 (2), 194-201, 2007 | 103 | 2007 |
| 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 | 101 | 2020 |
| 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 | 94 | 2017 |
| Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo‐cardio‐facial/digeorge/22q11.2 deletion syndrome patients T Guo, D McDonald‐McGinn, A Blonska, A Shanske, AS Bassett, E Chow, ... Human mutation 32 (11), 1278-1289, 2011 | 86 | 2011 |
| Enhanced maternal origin of the 22q11. 2 deletion in velocardiofacial and DiGeorge syndromes M Delio, T Guo, DM McDonald-McGinn, E Zackai, S Herman, ... The American Journal of Human Genetics 92 (3), 439-447, 2013 | 83 | 2013 |
| A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11. 2 Deletion Syndrome Brain Behavior Consortium RE Gur, AS Bassett, DM McDonald-McGinn, CE Bearden, E Chow, ... Molecular psychiatry 22 (12), 1664-1672, 2017 | 81 | 2017 |
| Clinical and Molecular Evaluation of SHOX/PAR1 Duplications in Léri-Weill Dyschondrosteosis (LWD) and Idiopathic Short Stature (ISS) S Benito-Sanz, E Barroso, D Heine-Suñer, A Hisado-Oliva, V Romanelli, ... The Journal of Clinical Endocrinology & Metabolism 96 (2), E404-E412, 2011 | 81 | 2011 |
| Mutations in TBX1 genocopy the 22q11. 2 deletion and duplication syndromes: a new susceptibility factor for mental retardation L Torres-Juan, J Rosell, M Morla, C Vidal-Pou, F García-Algas, ... European journal of human genetics 15 (6), 658-663, 2007 | 81 | 2007 |
| Exome sequencing identifies ATP4A gene as responsible of an atypical familial type I gastric neuroendocrine tumour O Calvete, J Reyes, S Zuñiga, B Paumard-Hernández, V Fernández, ... Human molecular genetics 24 (10), 2914-2922, 2015 | 77 | 2015 |
| A radiation hybrid map of complement factor H and factor H-related genes MA Díaz-Guillén, S Rodríguez de Córdoba, D Heine-Suñer Immunogenetics 49, 549-552, 1999 | 76 | 1999 |
| Copy-number variation of the glucose transporter gene SLC2A3 and congenital heart defects in the 22q11. 2 deletion syndrome EE Mlynarski, MB Sheridan, M Xie, T Guo, SE Racedo, ... The American Journal of Human Genetics 96 (5), 753-764, 2015 | 74 | 2015 |
| A deletion and a duplication in distal 22q11. 2 deletion syndrome region. Clinical implications and review L Fernández, J Nevado, F Santos, D Heine-Suñer, V Martinez-Glez, ... BMC Medical Genetics 10, 1-13, 2009 | 71 | 2009 |
| An integrated map of the human regulator of complement activation (RCA) gene cluster on 1q32. S Rodríguez de Córdoba, MA Díaz-Guillén, D Heine-Suñer Molecular immunology 36 (13-14), 803-808, 1999 | 70 | 1999 |
| A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency N Martinez-Pomar, I Munoz-Saa, D Heine-Suner, A Martin, A Smahi, ... Human genetics 118, 458-465, 2005 | 69 | 2005 |
| Rare copy number variants and congenital heart defects in the 22q11. 2 deletion syndrome EE Mlynarski, M Xie, D Taylor, MB Sheridan, T Guo, SE Racedo, ... Human genetics 135, 273-285, 2016 | 65 | 2016 |
| Incidence of fragile X in 5,000 consecutive newborn males M Rife, C Badenas, J Mallolas, L Jiménez, R Cervera, A Maya, G Glover, ... Genetic testing 7 (4), 339-343, 2003 | 63 | 2003 |
| Complete sequence of the 22q11. 2 allele in 1,053 subjects with 22q11. 2 deletion syndrome reveals modifiers of conotruncal heart defects Y Zhao, A Diacou, HR Johnston, FI Musfee, DM McDonald-McGinn, ... The American Journal of Human Genetics 106 (1), 26-40, 2020 | 56 | 2020 |
Santiago Rodriguez de CordobaCentro de Investigaciones Biologicas Margarita Salas (CSIC)Verified email at cib.csic.es
