| Endothelial dysfunction and preeclampsia: role of oxidative stress LC Sánchez-Aranguren, CE Prada, CE Riaño-Medina, M Lopez Frontiers in physiology 5, 99092, 2014 | 503 | 2014 |
| Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder AJ Abrams, RB Hufnagel, A Rebelo, C Zanna, N Patel, MA Gonzalez, ... Nature genetics 47 (8), 926-932, 2015 | 210 | 2015 |
| Pediatric plexiform neurofibromas: impact on morbidity and mortality in neurofibromatosis type 1 CE Prada, FA Rangwala, LJ Martin, AM Lovell, HM Saal, EK Schorry, ... The Journal of pediatrics 160 (3), 461-467, 2012 | 182 | 2012 |
| ZAP-70 is a novel conditional heat shock protein 90 (Hsp90) client: inhibition of Hsp90 leads to ZAP-70 degradation, apoptosis, and impaired signaling in chronic lymphocytic … JE Castro, CE Prada, O Loria, A Kamal, L Chen, FJ Burrows, TJ Kipps Blood 106 (7), 2506-2512, 2005 | 164 | 2005 |
| Neurofibroma-associated macrophages play roles in tumor growth and response to pharmacological inhibition CE Prada, E Jousma, TA Rizvi, J Wu, RS Dunn, DA Mayes, JA Cancelas, ... Acta neuropathologica 125, 159-168, 2013 | 132 | 2013 |
| TAF1 variants are associated with dysmorphic features, intellectual disability, and neurological manifestations JA O’Rawe, Y Wu, MJ Dörfel, AF Rope, PYB Au, JS Parboosingh, S Moon, ... The American Journal of Human Genetics 97 (6), 922-932, 2015 | 124 | 2015 |
| The use of magnetic resonance imaging screening for optic pathway gliomas in children with neurofibromatosis type 1 CE Prada, RB Hufnagel, TR Hummel, AM Lovell, RJ Hopkin, HM Saal, ... The Journal of pediatrics 167 (4), 851-856. e1, 2015 | 113 | 2015 |
| Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships KL Sund, SL Zimmerman, C Thomas, AL Mitchell, CE Prada, L Grote, ... Genetics in Medicine 15 (1), 70-78, 2013 | 92 | 2013 |
| Mutations in the neuronal vesicular SNARE VAMP2 affect synaptic membrane fusion and impair human neurodevelopment V Salpietro, NT Malintan, I Llano-Rivas, CG Spaeth, S Efthymiou, ... The American Journal of Human Genetics 104 (4), 721-730, 2019 | 89 | 2019 |
| The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants K Tatton-Brown, A Zachariou, C Loveday, A Renwick, S Mahamdallie, ... Wellcome open research 3, 2018 | 85 | 2018 |
| Loss-or gain-of-function mutations in ACOX1 cause axonal loss via different mechanisms H Chung, MF Wangler, PC Marcogliese, J Jo, TA Ravenscroft, Z Zuo, ... Neuron 106 (4), 589-606. e6, 2020 | 84 | 2020 |
| Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome S Kantarci, D Casavant, C Prada, M Russell, J Byrne, LW Haug, ... American Journal of Medical Genetics Part A 140 (1), 17-23, 2006 | 78 | 2006 |
| Enhanced MAPK1 function causes a neurodevelopmental disorder within the RASopathy clinical spectrum M Motta, L Pannone, F Pantaleoni, G Bocchinfuso, FC Radio, S Cecchetti, ... The American Journal of Human Genetics 107 (3), 499-513, 2020 | 69 | 2020 |
| CNS, lung, and lymph node involvement in Gaucher disease type 3 after 11 years of therapy: clinical, histopathologic, and biochemical findings TA Burrow, Y Sun, CE Prada, L Bailey, W Zhang, A Brewer, SW Wu, ... Molecular genetics and metabolism 114 (2), 233-241, 2015 | 63 | 2015 |
| CD154 induces p73 to overcome the resistance to apoptosis of chronic lymphocytic leukemia cells lacking functional p53 F Dicker, AP Kater, CE Prada, T Fukuda, JE Castro, G Sun, JY Wang, ... Blood 108 (10), 3450-3457, 2006 | 62 | 2006 |
| Cardiac disease in methylmalonic acidemia CE Prada, F Al Jasmi, EP Kirk, M Hopp, O Jones, ND Leslie, TA Burrow The Journal of pediatrics 159 (5), 862-864, 2011 | 61 | 2011 |
| Evaluation of clinical manifestations in patients with severe lymphedema with and without CCBE1 mutations M Alders, A Mendola, L Adès, L Al Gazali, C Bellini, B Dallapiccola, ... Molecular syndromology 4 (3), 107-113, 2013 | 57 | 2013 |
| Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy CP Diggle, IM Carr, E Zitt, K Wusik, RJ Hopkin, CE Prada, O Calabrese, ... Rheumatology 49 (6), 1056-1062, 2010 | 57 | 2010 |
| Genetic causes of macroglossia: diagnostic approach CE Prada, YA Zarate, RJ Hopkin Pediatrics 129 (2), e431-e437, 2012 | 53 | 2012 |
| Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15 H Cheng, L Gottlieb, E Marchi, R Kleyner, P Bhardwaj, AF Rope, ... Human Molecular Genetics 28 (17), 2900-2919, 2019 | 51 | 2019 |
