| Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein L McGregor, V Makela, SM Darling, S Vrontou, G Chalepakis, C Roberts, ... Nature genetics 34 (2), 203-208, 2003 | 264 | 2003 |
| Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs S Jadeja, I Smyth, JE Pitera, MS Taylor, M Van Haelst, E Bentley, ... Nature genetics 37 (5), 520-525, 2005 | 181 | 2005 |
| Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked … FJ Kaiser, M Ansari, D Braunholz, M Concepción Gil-Rodríguez, ... Human molecular genetics 23 (11), 2888-2900, 2014 | 177 | 2014 |
| In utero exposure to mycophenolate mofetil: a characteristic phenotype? A Perez‐Aytes, A Ledo, V Boso, P Sáenz, E Roma, JL Poveda, M Vento American Journal of Medical Genetics Part A 146 (1), 1-7, 2008 | 171 | 2008 |
| Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46, XY disorder of sex development L Audí, M Fernández-Cancio, A Carrascosa, P Andaluz, N Torán, C Piró, ... The Journal of Clinical Endocrinology & Metabolism 95 (4), 1876-1888, 2010 | 155 | 2010 |
| The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia JA Caparrós-Martín, M Valencia, E Reytor, M Pacheco, M Fernandez, ... Human molecular genetics 22 (1), 124-139, 2013 | 122 | 2013 |
| Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis P Hermanns, S Unger, A Rossi, A Perez-Aytes, H Cortina, L Bonafé, ... The American Journal of Human Genetics 82 (6), 1368-1374, 2008 | 108 | 2008 |
| De novo mutations in PLXND1 and REV3L cause Möbius syndrome L Tomas-Roca, A Tsaalbi-Shtylik, JG Jansen, MK Singh, JA Epstein, ... Nature communications 6 (1), 7199, 2015 | 107 | 2015 |
| Mycophenolate mofetil embryopathy: a newly recognized teratogenic syndrome A Perez-Aytes, P Marin-Reina, V Boso, A Ledo, JC Carey, M Vento European journal of medical genetics 60 (1), 16-21, 2017 | 87 | 2017 |
| Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features S Unger, E Lausch, A Rossi, A Mégarbané, D Sillence, M Alcausin, ... American journal of medical genetics Part A 152 (10), 2543-2549, 2010 | 80 | 2010 |
| Non‐immunological hydrops fetalis and intrapericardial teratoma: case report and review A Perez‐Aytes, N Sanchis, A Barbal, MJ Artés, J Domene, M Chirivella, ... Prenatal diagnosis 15 (9), 859-863, 1995 | 46 | 1995 |
| Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes F Martinez, P Marín-Reina, A Sanchis-Calvo, A Perez-Aytés, S Oltra, ... Pediatric research 78 (5), 533-539, 2015 | 43 | 2015 |
| Single aberrant umbilical artery in a fetus with severe caudal defects: sirenomelia or caudal dysgenesis A Perez‐Aytes, L Montero, J Gomez, A Paya American journal of medical genetics 69 (4), 409-412, 1997 | 39 | 1997 |
| Preaxial hallucal polydactyly as a marker for diabetic embryopathy MP Adam, L Hudgins, JC Carey, BD Hall, K Coleman, KW Gripp, ... Birth Defects Research Part A: Clinical and Molecular Teratology 85 (1), 13-19, 2009 | 37 | 2009 |
| Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy B Ezquieta, JL Santomé, A Carcavilla, E Guillen-Navarro, A Pérez-Aytés, ... Revista Española de Cardiología (English Edition) 65 (5), 447-455, 2012 | 35 | 2012 |
| Mycophenolate mofetil during pregnancy: some words of caution M Vento, A Perez Aytes, A Ledo, V Boso, JC Carey Pediatrics 122 (1), 184-185, 2008 | 35 | 2008 |
| Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature PC Vasudevan, S Garcia-Minaur, MP Botella, A Perez-Aytes, NL Shannon, ... Clinical Dysmorphology 14 (3), 109-116, 2005 | 27 | 2005 |
| Síndrome de Moebius AP Aytés Protoc diagn ter pediatr 1, 80-84, 2010 | 22 | 2010 |
| Möbius sequence, hypogenitalism, cerebral, and skeletal malformations in two brothers GR Criado, AP Aytés American journal of medical genetics 86 (5), 492-496, 1999 | 22 | 1999 |
| Grupo de Apoyo al Síndrome de Insensibilidad a los Andrógenos (GrApSIA). Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46 … L Audi, M Fernández-Cancio, A Carrascosa, P Andaluz, N Torán, C Piró, ... J Clin Endocrinol Metab 95 (4), 1876-88, 2010 | 20 | 2010 |
