| Expert consensus document: clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement F Brioude, JM Kalish, A Mussa, AC Foster, J Bliek, GB Ferrero, ... Nature Reviews Endocrinology 14 (4), 229, 2018 | 552* | 2018 |
| PROREPAIR-B: a prospective cohort study of the impact of germline DNA repair mutations on the outcomes of patients with metastatic castration-resistant prostate cancer E Castro, N Romero-Laorden, A Del Pozo, R Lozano, A Medina, J Puente, ... Journal of Clinical Oncology 37 (6), 490-503, 2019 | 389 | 2019 |
| Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis N Huang, AV Pandey, V Agrawal, W Reardon, PD Lapunzina, D Mowat, ... The American Journal of Human Genetics 76 (5), 729-749, 2005 | 368 | 2005 |
| 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 | 347 | 2010 |
| Extending the phenotype of recurrent rearrangements of 16p11. 2: deletions in mentally retarded patients without autism and in normal individuals EK Bijlsma, ACJ Gijsbers, JHM Schuurs-Hoeijmakers, A Van Haeringen, ... European journal of medical genetics 52 (2-3), 77-87, 2009 | 327 | 2009 |
| Mutations in WNT1 cause different forms of bone fragility K Keupp, F Beleggia, H Kayserili, AM Barnes, M Steiner, O Semler, ... The American Journal of Human Genetics 92 (4), 565-574, 2013 | 318 | 2013 |
| Risk of tumorigenesis in overgrowth syndromes: a comprehensive review P Lapunzina American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2005 | 318 | 2005 |
| Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment C Tayama, V Romanelli, A Martin-Trujillo, I Iglesias-Platas, K Okamura, ... Genome research 24 (4), 554-569, 2014 | 290 | 2014 |
| NOTCH2 mutations in Alagille syndrome BM Kamath, RC Bauer, KM Loomes, G Chao, J Gerfen, A Hutchinson, ... Journal of medical genetics 49 (2), 138-144, 2012 | 254 | 2012 |
| 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 | 246 | 2012 |
| Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome VL Ruiz-Perez, WJS Tompson, JH Blair, C Espinoza-Valdez, P Lapunzina, ... The American Journal of Human Genetics 72 (3), 728-732, 2003 | 246 | 2003 |
| Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma M Berdasco, S Ropero, F Setien, MF Fraga, P Lapunzina, R Losson, ... Proceedings of the National Academy of Sciences 106 (51), 21830-21835, 2009 | 237 | 2009 |
| HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation KW Gripp, AE Lin, DL Stabley, L Nicholson, CI Scott Jr, D Doyle, Y Aoki, ... American Journal of Medical Genetics Part A 140 (1), 1-7, 2006 | 226 | 2006 |
| Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy M Yuen, SA Sandaradura, JJ Dowling, AS Kostyukova, N Moroz, ... The Journal of clinical investigation 124 (11), 4693-4708, 2014 | 184 | 2014 |
| 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 | 158 | 2010 |
| Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome D Beysen, J Raes, BP Leroy, A Lucassen, JRW Yates, J Clayton-Smith, ... The American Journal of Human Genetics 77 (2), 205-218, 2005 | 156 | 2005 |
| Epigenetic biomarkers: current strategies and future challenges for their use in the clinical laboratory JL García-Giménez, M Seco-Cervera, TO Tollefsbol, C Romá-Mateo, ... Critical reviews in clinical laboratory sciences 54 (7-8), 529-550, 2017 | 152 | 2017 |
| Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant … T Kobayashi, Y Aoki, T Niihori, H Cavé, A Verloes, N Okamoto, H Kawame, ... Human mutation 31 (3), 284-294, 2010 | 143 | 2010 |
| Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1 L Alvarez, P Jara, E Sánchez-Sabate, L Hierro, J Larrauri, MC Díaz, ... Human molecular genetics 13 (20), 2451-2460, 2004 | 142 | 2004 |
| GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19 E Pairo-Castineira, K Rawlik, AD Bretherick, T Qi, Y Wu, I Nassiri, ... Nature 617 (7962), 764-768, 2023 | 134 | 2023 |
