| Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities … CS D'Angelo, JA Da Paz, CA Kim, DR Bertola, CIE Castro, MC Varela, ... European journal of medical genetics 49 (6), 451-460, 2006 | 68 | 2006 |
| Copy number variants in obesity‐related syndromes: review and perspectives on novel molecular approaches CS D′ Angelo, CP Koiffmann Journal of obesity 2012 (1), 845480, 2012 | 58 | 2012 |
| Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia CS D'Angelo, I Kohl, MC Varela, CIE de Castro, CA Kim, DR Bertola, ... American Journal of Medical Genetics Part A 152 (1), 102-110, 2010 | 48 | 2010 |
| Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity CS D’Angelo, MC Varela, CIE de Castro, PA Otto, ABA Perez, ... Molecular Cytogenetics 11, 1-18, 2018 | 44 | 2018 |
| High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis … FS Jehee, ACV Krepischi-Santos, KM Rocha, DP Cavalcanti, CA Kim, ... Journal of medical genetics 45 (7), 447-450, 2008 | 42 | 2008 |
| Barriers and considerations for diagnosing rare diseases in indigenous populations CS D'Angelo, A Hermes, CR McMaster, E Prichep, É Richer, ... Frontiers in Pediatrics 8, 579924, 2020 | 40 | 2020 |
| Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: report of novel pathogenic copy number variants CS D'Angelo, I Kohl, MC Varela, CIE de Castro, CA Kim, DR Bertola, ... American Journal of Medical Genetics Part A 161 (3), 479-486, 2013 | 34 | 2013 |
| Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor J Breckpot, M Vercruyssen, E Weyts, S Vandevoort, G D'Haenens, ... European journal of medical genetics 59 (9), 436-443, 2016 | 31 | 2016 |
| An inherited atypical 1 Mb 22q11. 2 deletion within the DGS/VCFS 3 Mb region in a child with obesity and aggressive behavior CS D'Angelo, FS Jehee, CP Koiffmann American Journal of Medical Genetics Part A 143 (16), 1928-1932, 2007 | 30 | 2007 |
| Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements CS D’Angelo, M Gajecka, CA Kim, AJ Gentles, CD Glotzbach, LG Shaffer, ... Human genetics 125, 551-563, 2009 | 26 | 2009 |
| Two new cases of 1p21. 3 deletions and an unbalanced translocation t (8; 12) among individuals with syndromic obesity CS D'angelo, MF Moller dos Santos, LG Alonso, CP Koiffmann Molecular syndromology 6 (2), 63-70, 2015 | 22 | 2015 |
| Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification … CS D’Angelo, MC Varela, CIE de Castro, CA Kim, DR Bertola, ... Molecular cytogenetics 7, 1-13, 2014 | 17 | 2014 |
| A novel MYT1L mutation in a boy with syndromic obesity: case report and literature review LML Carvalho, CS D’Angelo, Z Mustacchi, IT da Silva, ACV Krepischi, ... Obesity Research & Clinical Practice 15 (2), 124-132, 2021 | 12 | 2021 |
| Atypical presentation of COVID-19 incidentally detected at 18F-FDG PET/CT in an asymptomatic oncological patient MV Mattoli, S Taralli, E Pennese, C D’Angelo, F Angrilli, C Villano Clinical Nuclear Medicine 45 (8), e383-e385, 2020 | 11 | 2020 |
| Genetic investigation of syndromic forms of obesity LML Carvalho, CS D’Angelo, D Villela, SS da Costa, AA de Lima Jorge, ... International Journal of Obesity 46 (9), 1582-1586, 2022 | 8 | 2022 |
| Molecular cytogenetic characterization of an inherited maternal duplication 20p11. 21p13 associated with a small 20p11. 21 deletion CS D’Angelo, MA de Oliveira, CIE de Castro, CP Koiffmann Am J Med Genet. A 152, 3197-202, 2010 | 6 | 2010 |
| Does germ-line deletion of the PIP gene constitute a widespread risk for cancer? AG Silva, ACV Krepischi, GT Torrezan, LP Capelli, DM Carraro, ... European Journal of Human Genetics 22 (3), 307-309, 2014 | 4 | 2014 |
| Accurate, fast and cost‐effective diagnostic test for monosomy 1p36 using real‐time quantitative PCR PS Cunha, HB Pena, CS D’Angelo, CP Koiffmann, JA Rosenfeld, ... Disease Markers 2014 (1), 836082, 2014 | 4 | 2014 |
| EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders A Atalaia, D Wandrei, N Lalout, R Thompson, A Tassoni, PAC ’t Hoen, ... Orphanet journal of rare diseases 19 (1), 66, 2024 | 3 | 2024 |
| Pesquisa dos mecanismos de rearranjos cromossômicos subteloméricos na monossomia 1p36, expansão do espectro da variabilidade fenotípica e comportamental, diagnósticos … CS D'Angelo Universidade de São Paulo, 2009 | 2 | 2009 |
