| Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta P Lapunzina, M Aglan, S Temtamy, JA Caparrós-Martín, M Valencia, ... The American Journal of Human Genetics 87 (1), 110-114, 2010 | 340 | 2010 |
| Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta V Martínez‐Glez, M Valencia, JA Caparrós‐Martín, M Aglan, S Temtamy, ... Human mutation 33 (2), 343-350, 2012 | 242 | 2012 |
| New microdeletion and microduplication syndromes: A comprehensive review J Nevado, R Mergener, M Palomares-Bralo, KR Souza, E Vallespín, ... Genetics and molecular biology 37, 210-219, 2014 | 126 | 2014 |
| Mutations in PLOD2 cause autosomal‐recessive connective tissue disorders within the Bruck syndrome—Osteogenesis imperfecta phenotypic spectrum MT Puig‐Hervás, S Temtamy, M Aglan, M Valencia, V Martínez‐Glez, ... Human mutation 33 (10), 1444-1449, 2012 | 115 | 2012 |
| Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly L Rodriguez-Laguna, N Agra, K Ibañez, G Oliva-Molina, G Gordo, ... Journal of Experimental Medicine 216 (2), 407-418, 2019 | 113 | 2019 |
| Genetic and epigenetic alteration of the NF2 gene in sporadic meningiomas J Lomas, MJ Bello, D Arjona, ME Alonso, V Martinez‐Glez, I Lopez‐Marin, ... Genes, Chromosomes and Cancer 42 (3), 314-319, 2005 | 105 | 2005 |
| Simpson-Golabi-Behmel syndrome types I and II J Tenorio, P Arias, V Martínez-Glez, F Santos, S García-Miñaur, J Nevado, ... Orphanet Journal of Rare Diseases 9, 1-8, 2014 | 94 | 2014 |
| Macrocephaly–capillary malformation: Analysis of 13 patients and review of the diagnostic criteria V Martínez‐Glez, V Romanelli, MA Mori, R Gracia, M Segovia, ... American Journal of Medical Genetics Part A 152 (12), 3101-3106, 2010 | 79 | 2010 |
| CDKN1C (p57Kip2) analysis in Beckwith–Wiedemann syndrome (BWS) patients: Genotype–phenotype correlations, novel mutations, and polymorphisms V Romanelli, A Belinchon, S Benito‐Sanz, V Martínez‐Glez, ... American Journal of Medical Genetics Part A 152 (6), 1390-1397, 2010 | 77 | 2010 |
| 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 |
| CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype L Rodriguez-Laguna, K Ibañez, G Gordo, S Garcia-Minaur, ... Genetics in Medicine 20 (8), 882-889, 2018 | 70 | 2018 |
| CDKN1C mutations in HELLP/preeclamptic mothers of Beckwith–Wiedemann syndrome (BWS) patients V Romanelli, A Belinchon, A Campos-Barros, KE Heath, S Garcia-Minaur, ... Placenta 30 (6), 551-554, 2009 | 57 | 2009 |
| Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype–phenotype correlations JA Caparrós‐Martin, M Valencia, V Pulido, V Martínez‐Glez, ... American Journal of Medical Genetics Part A 161 (6), 1354-1369, 2013 | 56 | 2013 |
| mTOR mutations in Smith‐Kingsmore syndrome: Four additional patients and a review G Gordo, J Tenorio, P Arias, F Santos‐Simarro, S García‐Miñaur, ... Clinical genetics 93 (4), 762-775, 2018 | 55 | 2018 |
| Beckwith–Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques V Romanelli, HNM Meneses, L Fernández, V Martínez-Glez, ... European journal of human genetics 19 (4), 416-421, 2011 | 55 | 2011 |
| Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta E Guillén‐Navarro, MJ Ballesta‐Martínez, M Valencia, AM Bueno, ... American journal of medical genetics Part A 164 (5), 1136-1142, 2014 | 52 | 2014 |
| Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta JA Caparros‐Martin, MS Aglan, S Temtamy, GA Otaify, M Valencia, ... Molecular genetics & genomic medicine 5 (1), 28-39, 2017 | 51 | 2017 |
| Characterization of a 8q21. 11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype M Palomares, A Delicado, E Mansilla, ML de Torres, E Vallespín, ... The American Journal of Human Genetics 89 (2), 295-301, 2011 | 49 | 2011 |
| A six-attribute classification of geneticmosaicism V Martínez-Glez, J Tenorio, J Nevado, G Gordo, L Rodríguez-Laguna, ... Genetics in Medicine 22 (11), 1743-1757, 2020 | 46 | 2020 |
| Clinical and molecular analyses of Beckwith–Wiedemann syndrome: comparison between spontaneous conception and assisted reproduction techniques J Tenorio, V Romanelli, A Martin‐Trujillo, GM Fernández, M Segovia, ... American journal of medical genetics Part A 170 (10), 2740-2749, 2016 | 46 | 2016 |
Pablo LapunzinaProfessor of Human Genetics; Hospital Universitario La Paz and CIBERER Researcher; INGEMM在 salud.madrid.org 的电子邮件经过验证
