| Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families L Rodriguez-Revenga, I Madrigal, J Pagonabarraga, M Xuncla, ... European journal of human genetics 17 (10), 1359-1362, 2009 | 299 | 2009 |
| Fragile X syndrome: An overview and update of the FMR1 gene M Mila, MI Alvarez‐Mora, I Madrigal, L Rodriguez‐Revenga Clinical genetics 93 (2), 197-205, 2018 | 122 | 2018 |
| A novel mutation in JARID1C gene associated with mental retardation C Santos, L Rodriguez-Revenga, I Madrigal, C Badenas, M Pineda, ... European journal of human genetics 14 (5), 583-586, 2006 | 98 | 2006 |
| Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination J Vandewalle, H Van Esch, K Govaerts, J Verbeeck, C Zweier, I Madrigal, ... The American Journal of Human Genetics 85 (6), 809-822, 2009 | 92 | 2009 |
| X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation I Madrigal, L Rodríguez-Revenga, L Armengol, E González, B Rodriguez, ... BMC genomics 8, 1-10, 2007 | 78 | 2007 |
| Coamplified and overexpressed genes at ERBB2 locus in gastric cancer A Varis, A Zaika, P Puolakkainen, B Nagy, I Madrigal, A Kokkola, ... International journal of cancer 109 (4), 548-553, 2004 | 77 | 2004 |
| Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations? N Gómez-Fernández, S Castellví-Bel, C Fernández-Rozadilla, F Balaguer, ... BMC medical genetics 10, 1-12, 2009 | 73 | 2009 |
| New insights into the regulatory function of CYFIP1 in the context of WAVE-and FMRP-containing complexes S Abekhoukh, HB Sahin, M Grossi, S Zongaro, T Maurin, I Madrigal, ... Disease Models & Mechanisms 10 (4), 463-474, 2017 | 67 | 2017 |
| Evidence of depressive symptoms in fragile-X syndrome premutated females L Rodriguez-Revenga, I Madrigal, M Alegret, M Santos, M Milà Psychiatric genetics 18 (4), 153-155, 2008 | 63 | 2008 |
| A genome-wide DNA methylation signature for SETD1B-related syndrome IM Krzyzewska, SM Maas, P Henneman, K Lip, A Venema, K Baranano, ... Clinical epigenetics 11, 1-15, 2019 | 58 | 2019 |
| MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation I Madrigal, L Rodríguez-Revenga, C Badenas, A Sánchez, F Martinez, ... Genetics in Medicine 9 (2), 117-122, 2007 | 49 | 2007 |
| Impaired mitochondrial function and dynamics in the pathogenesis of FXTAS MI Alvarez-Mora, L Rodriguez-Revenga, I Madrigal, M Guitart-Mampel, ... Molecular Neurobiology 54, 6896-6902, 2017 | 47 | 2017 |
| Atypical XX male with the SRY gene located at the long arm of chromosome 1 and a 1qter microdeletion R Queralt, I Madrigal, MA Vallecillos, C Morales, JL Ballescá, R Oliva, ... American Journal of Medical Genetics Part A 146 (10), 1335-1340, 2008 | 42 | 2008 |
| Premature ovarian failure and fragile X female premutation carriers: no evidence for a skewed X-chromosome inactivation pattern L Rodriguez-Revenga, I Madrigal, C Badenas, M Xunclà, L Jiménez, ... Menopause 16 (5), 944-949, 2009 | 39 | 2009 |
| Comprehensive molecular testing in patients with high functioning autism spectrum disorder MI Alvarez-Mora, RC Escalona, OP Navarro, I Madrigal, I Quintela, ... Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 784, 46-52, 2016 | 38 | 2016 |
| Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy L Rodriguez‐Revenga, I Madrigal, LS Alkhalidi, L Armengol, E Gonzalez, ... American Journal of Medical Genetics Part A 143 (9), 916-920, 2007 | 36 | 2007 |
| MicroRNA expression profiling in blood from fragile X‐associated tremor/ataxia syndrome patients MI Alvarez‐Mora, L Rodriguez‐Revenga, I Madrigal, F Torres‐Silva, ... Genes, Brain and Behavior 12 (6), 595-603, 2013 | 30 | 2013 |
| 15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism I Madrigal, L Rodríguez-Revenga, M Xunclà, M Milà Gene 508 (1), 92-95, 2012 | 29 | 2012 |
| Motor and mental dysfunction in mother–daughter transmitted FXTAS L Rodriguez-Revenga, J Pagonabarraga, B Gomez-Anson, ... Neurology 75 (15), 1370-1376, 2010 | 28 | 2010 |
| Added value of chromosomal microarray analysis over conventional karyotyping in stillbirth work‐up: Systematic review and meta‐analysis RJ Martinez‐Portilla, M Pauta, A Hawkins‐Villarreal, M Rial‐Crestelo, ... Ultrasound in Obstetrics & Gynecology 53 (5), 590-597, 2019 | 25 | 2019 |
