Fragile X spectrum disorders R Lozano, CA Rosero, RJ Hagerman Intractable & rare diseases research 3 (4), 134-146, 2014 | 189 | 2014 |
Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations S De Rubeis, PM Siper, A Durkin, J Weissman, F Muratet, D Halpern, ... Molecular autism 9, 1-20, 2018 | 164 | 2018 |
Fragile X syndrome: A review of clinical management R Lozano, A Azarang, T Wilaisakditipakorn, RJ Hagerman Intractable & rare diseases research 5 (3), 145-157, 2016 | 99 | 2016 |
Modulation of the GABAergic pathway for the treatment of fragile X syndrome R Lozano, EB Hare, RJ Hagerman Neuropsychiatric disease and treatment, 1769-1779, 2014 | 91 | 2014 |
Association of β-defensin 1 single nucleotide polymorphisms with atopic dermatitis E Prado-Montes de Oca, A García-Vargas, R Lozano-Inocencio, ... International archives of allergy and immunology 142 (3), 211-218, 2007 | 88 | 2007 |
Prospective investigation of FOXP1 syndrome PM Siper, S De Rubeis, MP Trelles, A Durkin, D Di Marino, F Muratet, ... Molecular autism 8, 1-16, 2017 | 78 | 2017 |
A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome A Ligsay, A Van Dijck, DV Nguyen, R Lozano, Y Chen, ES Bickel, D Hessl, ... Journal of neurodevelopmental disorders 9, 1-13, 2017 | 72 | 2017 |
Effectiveness and safety of levosulpiride in the treatment of dysmotility-like functional dyspepsia R Lozano, MGP Concha, A Montealegre, L De Leon, JO Villalba, ... Therapeutics and Clinical Risk Management 3 (1), 149-155, 2007 | 66 | 2007 |
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing SP Strom, R Lozano, H Lee, N Dorrani, J Mann, PF O’Lague, N Mans, ... BMC Medical Genetics 15, 1-8, 2014 | 64 | 2014 |
A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment R Lozano, A Vino, C Lozano, SE Fisher, P Deriziotis European journal of human genetics 23 (12), 1702-1707, 2015 | 63 | 2015 |
Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers DA Hall, E Robertson, AL Shelton, MC Losh, M Mila, EG Moreno, ... The Cerebellum 15, 578-586, 2016 | 48 | 2016 |
Addictive substances may induce a rapid neurological deterioration in fragile X-associated tremor ataxia syndrome: A report of two cases Z Muzar, PE Adams, A Schneider, RJ Hagerman, R Lozano Intractable & rare diseases research 3 (4), 162-165, 2014 | 45 | 2014 |
Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders J Campistol, M Díez‐Juan, L Callejón, A Fernandez‐De Miguel, ... Developmental Medicine & Child Neurology 58 (8), 842-847, 2016 | 43 | 2016 |
FOXP1 syndrome: a review of the literature and practice parameters for medical assessment and monitoring R Lozano, C Gbekie, PM Siper, S Srivastava, JM Saland, S Sethuram, ... Journal of Neurodevelopmental Disorders 13, 1-18, 2021 | 39 | 2021 |
Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium T Levy, JH Foss-Feig, C Betancur, PM Siper, MP Trelles-Thorne, ... Human molecular genetics 31 (4), 625-637, 2022 | 38 | 2022 |
A Novel ZRS Mutation Leads to Preaxial Polydactyly Type 2 in a Heterozygous Form and W erner Mesomelic Syndrome in a Homozygous Form JE VanderMeer, R Lozano, M Sun, Y Xue, D Daentl, EW Jabs, WR Wilcox, ... Human mutation 35 (8), 945-948, 2014 | 37 | 2014 |
Executive Dysfunction in Female FMR1 Premutation Carriers AL Shelton, KM Cornish, CM Kraan, R Lozano, M Bui, J Fielding The Cerebellum 15, 565-569, 2016 | 32 | 2016 |
Advances in the understanding of the gabaergic neurobiology of FMR1 expanded alleles leading to targeted treatments for fragile X spectrum disorder R Lozano, V Martinez-Cerdeno, R J Hagerman Current pharmaceutical design 21 (34), 4972-4979, 2015 | 29 | 2015 |
Methadone use in a male with the FMRI premutation and FXTAS Z Muzar, R Lozano, A Schneider, PE Adams, SMH Faradz, F Tassone, ... American Journal of Medical Genetics Part A 167 (6), 1354-1359, 2015 | 27 | 2015 |
Genomic studies in fragile X premutation carriers R Lozano, RJ Hagerman, M Duyzend, DB Budimirovic, EE Eichler, ... Journal of neurodevelopmental disorders 6, 1-8, 2014 | 27 | 2014 |