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 | 288 | 2005 |
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 | 265 | 2009 |
Risk of tumorigenesis in overgrowth syndromes: a comprehensive review P Lapunzina American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2005 | 262 | 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 | 257 | 2010 |
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 | 213 | 2013 |
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 | 202 | 2003 |
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 | 199 | 2006 |
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 | 184 | 2012 |
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 | 178 | 2012 |
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 | 173 | 2009 |
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 | 152 | 2014 |
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 | 148 | 2018 |
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 | 142 | 2005 |
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 | 141 | 2014 |
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 | 121 | 2004 |
Molecular and clinical characterization of cardio‐facio‐cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome Y Narumi, Y Aoki, T Niihori, G Neri, H Cavé, A Verloes, C Nava, ... American Journal of Medical Genetics Part A 143 (8), 799-807, 2007 | 105 | 2007 |
Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis L Armengol, J Nevado, C Serra-Juhé, A Plaja, C Mediano, ... Human genetics 131 (3), 513-523, 2012 | 101 | 2012 |
Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11. 2 deletion syndrome L Fernandez, P Lapunzina, D Arjona, I López Pajares, L García‐Guereta, ... Clinical genetics 68 (4), 373-378, 2005 | 99 | 2005 |
Stratification of Wilms tumor by genetic and epigenetic analysis RH Scott, A Murray, L Baskcomb, C Turnbull, C Loveday, R Al-Saadi, ... Oncotarget 3 (3), 327, 2012 | 98 | 2012 |
Cancer genes hypermethylated in human embryonic stem cells V Calvanese, A Horrillo, A Hmadcha, B Suarez-Álvarez, AF Fernandez, ... PloS one 3 (9), e3294, 2008 | 94 | 2008 |