| Progressive loss of function in a limb enhancer during snake evolution EZ Kvon, OK Kamneva, US Melo, I Barozzi, M Osterwalder, BJ Mannion, ... Cell 167 (3), 633-642. e11, 2016 | 317 | 2016 |
| Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells LC Caires-Júnior, E Goulart, US Melo, BHS Araujo, L Alvizi, ... Nature communications 9 (1), 475, 2018 | 119 | 2018 |
| Hi-C identifies complex genomic rearrangements and TAD-shuffling in developmental diseases US Melo, R Schöpflin, R Acuna-Hidalgo, MA Mensah, B Fischer-Zirnsak, ... The American Journal of Human Genetics 106 (6), 872-884, 2020 | 103 | 2020 |
| Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa SE de Bruijn, A Fiorentino, D Ottaviani, S Fanucchi, US Melo, ... The American Journal of Human Genetics 107 (5), 802-814, 2020 | 76 | 2020 |
| Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies EE Palmer, R Sachdev, R Macintosh, US Melo, S Mundlos, S Righetti, ... Neurology 96 (13), e1770-e1782, 2021 | 66 | 2021 |
| Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome US Melo, LI Macedo-Souza, T Figueiredo, AR Muotri, JG Gleeson, ... Human molecular genetics 24 (24), 6877-6885, 2015 | 56 | 2015 |
| Waardenburg syndrome: Novel mutations in a large Brazilian sample MAP Bocángel, US Melo, LU Alves, E Pardono, NCV Lourenço, ... European journal of medical genetics 61 (6), 348-354, 2018 | 36 | 2018 |
| Could endogamy explain the higher prevalence of disabilities in the population of the Brazilian Northeast? SC dos Santos, US Melo, SS dos Santos Lopes, M Weller, F Kok Ciencia & Saúde Coletiva 18 (4), 1141, 2013 | 34* | 2013 |
| A novel complex neurological phenotype due to a homozygous mutation in FDX2 J Gurgel-Giannetti, DS Lynch, ARB Paiva, LT Lucato, G Yamamoto, ... Brain 141 (8), 2289-2298, 2018 | 32 | 2018 |
| A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disability T Figueiredo, US Melo, ALS Pessoa, PR Nobrega, JP Kitajima, H Rusch, ... Molecular psychiatry 21 (8), 1125, 2016 | 29 | 2016 |
| Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family T Figueiredo, US Melo, ALS Pessoa, PR Nobrega, JP Kitajima, I Correa, ... Journal of Medical Genetics 52 (2), 123-127, 2015 | 29 | 2015 |
| Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes R Schöpflin, US Melo, H Moeinzadeh, D Heller, V Laupert, J Hertzberg, ... Nature Communications 13 (1), 6470, 2022 | 18 | 2022 |
| PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy ARB de Paiva, DS Lynch, US Melo, LT Lucato, F Freua, BDR de Assis, ... Neurology: Genetics 5 (1), e306, 2019 | 18 | 2019 |
| Different gene expression profiles in iPSC-derived motor neurons from ALS8 patients with variable clinical courses suggest mitigating pathways for neurodegeneration D Oliveira, DA Morales-Vicente, MS Amaral, L Luz, AL Sertié, FS Leite, ... Human Molecular Genetics 29 (9), 1465-1475, 2020 | 13 | 2020 |
| Strategies for genetic study of hearing loss in the Brazilian northeastern region US Melo, S Santos, HG Cavalcanti, WT Andrade, VG Dantas, MRD Rosa, ... International journal of molecular epidemiology and genetics 5 (1), 11, 2014 | 12 | 2014 |
| Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus US Melo, J Piard, B Fischer-Zirnsak, MK Klever, R Schöpflin, MA Mensah, ... Human genetics 140 (10), 1459-1469, 2021 | 10 | 2021 |
| Clinical aspects of hereditary spastic paraplegia 76 and novel CAPN1 mutations. US Melo, F Freua, DS Lynch, BD Ripa, RB Tenorio, JAM Saute, ... Clinical Genetics 94 (5), 2018 | 10 | 2018 |
| A fast method to reprogram and CRISPR/Cas9 gene editing from erythroblasts US Melo, F de Souza Leite, S Costa, C Rosenberg, M Zatz Stem cell research 31, 52-54, 2018 | 8 | 2018 |
| Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations AA de Farias, K Nunes, RB Lemes, R Moura, GR Fernandes, US Melo, ... Scientific Reports 8 (1), 16552, 2018 | 7 | 2018 |
| Loss-of-function mutation in inositol monophosphatase 1 (IMPA1) results in abnormal synchrony in resting-state EEG CP Walker, ALS Pessoa, T Figueiredo, M Rafferty, US Melo, PR Nóbrega, ... Orphanet Journal of Rare Diseases 14, 1-10, 2019 | 5 | 2019 |
Fernando KokProfessor Associado, Departamento de Neurologia da FMUSPEmail verificata su mendelics.com.br
