| Mechanisms of ring chromosome formation, ring instability and clinical consequences RS Guilherme, VF Ayres Meloni, CA Kim, R Pellegrino, SS Takeno, ... BMC medical genetics 12, 1-7, 2011 | 147 | 2011 |
| Attention Deficit Hyperactivity Disorder in the Light of the Epigenetic Paradigm. MM Schuch V, Utsumi DA, Costa TV , Kulikowski LD Front Psychiatry 7 (doi: 10.3389/fpsyt.2015.00126. eCollect), 126, 2015 | 92* | 2015 |
| Ring chromosome instability evaluation in six patients with autosomal rings CP Sodré, RS Guilherme, VF Meloni, D Brunoni, Y Juliano, JA Andrade, ... Genet Mol Res 9, 134-43, 2010 | 84 | 2010 |
| Severe brain involvement in 5q spinal muscular atrophy type 0 RH Mendonça, AJ Rocha, A Lozano‐Arango, AB Diaz, C Castiglioni, ... Annals of neurology 86 (3), 458-462, 2019 | 49 | 2019 |
| I Diretriz de insuficiência cardíaca (IC) e transplante cardíaco, no feto, na criança e em adultos com cardiopatia congênita, da Sociedade Brasileira de Cardiologia E Azeka, MB Jatene, IB Jatene, ESK Horowitz, KC Branco, JD Souza, ... Arquivos Brasileiros de Cardiologia 103, 1-126, 2014 | 46 | 2014 |
| Duplication 9p and their implication to phenotype RS Guilherme, VA Meloni, ABA Perez, AL Pilla, MAP de Ramos, ... BMC Medical Genetics 15, 1-8, 2014 | 43 | 2014 |
| Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy RH Mendonça, C Matsui Jr, GJ Polido, AMS Silva, L Kulikowski, ... Neurology: Genetics 6 (5), e505, 2020 | 41 | 2020 |
| Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA CAK Rachel Sayuri Honjo, Roberta Lelis Dutra, Erika Arai Furusawa, Evelin ... BioMed Research International, 2015 | 41 | 2015 |
| Pure duplication 1q41‐qter: Further delineation of trisomy 1q syndromes LD Kulikowski, FTS Bellucco, SI Nogueira, DM Christofolini, MAC Smith, ... American Journal of Medical Genetics Part A 146 (20), 2663-2667, 2008 | 34 | 2008 |
| Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries RL Dutra, RS Honjo, LD Kulikowski, FM Fonseca, PC Pieri, FS Jehee, ... BMC research notes 5, 1-5, 2012 | 32 | 2012 |
| Congenital heart disease as a warning sign for the diagnosis of the 22q11. 2 deletion MS Grassi, C Jacob, LD Kulikowski, AC Pastorino, RL Dutra, N Miura, ... Arquivos brasileiros de cardiologia 103, 382-390, 2014 | 30 | 2014 |
| Cytogenetic instability of dental pulp stem cell lines MT Duailibi, LD Kulikowski, SE Duailibi, MVN Lipay, MI Melaragno, ... Journal of molecular histology, 1-6, 2012 | 29 | 2012 |
| Investigation of copy number variation in children with conotruncal heart defects CMR Campos, EA Zanardo, RL Dutra, LD Kulikowski, C Kim Arquivos brasileiros de cardiologia 104, 24-31, 2015 | 26 | 2015 |
| Atypical 22q11. 2 deletion in a patient with DGS/VCFS spectrum SI Nogueira, AM Hacker, FTS Bellucco, DM Christofolini, LD Kulikowski, ... European journal of medical genetics 51 (3), 226-230, 2008 | 24 | 2008 |
| Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11. 2 deletion RS Guilherme, KC Soares, M Simioni, TP Vieira, VL Gil‐da‐Silva‐Lopes, ... American Journal of Medical Genetics Part A 164 (7), 1659-1665, 2014 | 22 | 2014 |
| Deletion of RUNX1 exons 1 and 2 associated with familial platelet disorder with propensity to acute myeloid leukemia MC de Andrade Silva, ACV Krepischi, LD Kulikowski, EA Zanardo, ... Cancer genetics 222, 32-37, 2018 | 21 | 2018 |
| Application of whole-exome sequencing in detecting copy number variants in patients with developmental delay and/or multiple congenital malformations ÉA Zanardo, FP Monteiro, SN Chehimi, YG Oliveira, AT Dias, LA Costa, ... The Journal of Molecular Diagnostics 22 (8), 1041-1049, 2020 | 18 | 2020 |
| Global DNA methylation of peripheral blood leukocytes from dogs bearing multicentric non-Hodgkin lymphomas and healthy dogs: A comparative study TMF Epiphanio, NCCA Fernandes, TF de Oliveira, PA Lopes, RA Réssio, ... PLoS One 14 (3), e0211898, 2019 | 18 | 2019 |
| Inactivation of AMMECR1 is associated with growth, bone, and heart alterations M Moysés‐Oliveira, G Giannuzzi, RJ Fish, JA Rosenfeld, F Petit, ... Human mutation 39 (2), 281-291, 2018 | 18 | 2018 |
| Position effect modifying gene expression in a patient with ring chromosome 14 RS Guilherme, M Moysés-Oliveira, AG Dantas, VA Meloni, ME Colovati, ... Journal of applied genetics 57, 183-187, 2016 | 18 | 2016 |