X‐linked intellectual disability related genes disrupted by balanced X‐autosome translocations M Moysés‐Oliveira, RS Guilherme, VA Meloni, A Di Battista, CB de Mello, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 168 …, 2015 | 53 | 2015 |
New gene discoveries highlight functional convergence in autism and related neurodevelopmental disorders M Moyses-Oliveira, R Yadav, S Erdin, ME Talkowski Current Opinion in Genetics & Development 65, 195-206, 2020 | 42 | 2020 |
Genetics of premature ovarian insufficiency and the association with X-autosome translocations A Di-Battista, M Moysés-Oliveira, MI Melaragno Reproduction 160 (4), R55-R64, 2020 | 35 | 2020 |
Genetic mechanisms leading to primary amenorrhea in balanced X-autosome translocations M Moysés-Oliveira, R dos Santos Guilherme, AG Dantas, R Ueta, ... Fertility and Sterility 103 (5), 1289-1296. e2, 2015 | 29 | 2015 |
The Natural History of a Man With Ovotesticular 46,XX DSD Caused by a Novel 3-Mb 15q26.2 Deletion Containing NR2F2 Gene G Carvalheira, AM Malinverni, M Moysés-Oliveira, R Ueta, L Cardili, ... Journal of the Endocrine Society 3 (11), 2107-2113, 2019 | 25 | 2019 |
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models K Mohajeri, R Yadav, E D'haene, PM Boone, S Erdin, D Gao, ... The American Journal of Human Genetics 109 (11), 2049-2067, 2022 | 23 | 2022 |
Incorporation of 5-ethynyl-2′-deoxyuridine (EdU) as a novel strategy for identification of the skewed X inactivation pattern in balanced and unbalanced X-rearrangements L Sisdelli, AC Vidi, M Moysés-Oliveira, A Di Battista, A Bortolai, ... Human genetics 135, 185-192, 2016 | 19 | 2016 |
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 |
Sclerocornea in a patient with van den Ende–Gupta syndrome homozygous for a SCARF2 microdeletion MP Migliavacca, NLM Sobreira, GPM Antonialli, MM Oliveira, ... American journal of medical genetics Part A 164 (5), 1170-1174, 2014 | 16 | 2014 |
Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes M Moysés-Oliveira, A Di-Battista, M Zamariolli, VA Meloni, S Bragagnolo, ... European journal of human genetics 27 (5), 760-771, 2019 | 15 | 2019 |
Rare single‐nucleotide variants in oculo‐auriculo‐vertebral spectrum (OAVS) M Zamariolli, M Colovati, M Moysés‐Oliveira, N Nunes, ... Molecular genetics & genomic medicine 7 (10), e00959, 2019 | 14 | 2019 |
19q13. 33→ qter trisomy in a girl with intellectual impairment and seizures G Carvalheira, MM Oliveira, S Takeno, FT de Lima, VA Meloni, ... Meta gene 2, 799-806, 2014 | 14 | 2014 |
Copy number variation (CNV) identification, interpretation, and database from Brazilian patients VCSM Godoy, FT Bellucco, M Colovati, HR Oliveira-Junior, ... Genetics and Molecular Biology 43, e20190218, 2020 | 11 | 2020 |
Search for appropriate reference genes for quantitative reverse transcription PCR studies in somite, prosencephalon and heart of early mouse embryo M Moyses-Oliveira, V Cabral, CO Gigek, DC de Carvalho Correa, ... Gene 710, 148-155, 2019 | 9 | 2019 |
Autistic disorder phenotype associated to a complex 15q intrachromosomal rearrangement DM Christofolini, VA Meloni, MA de Paula Ramos, MM Oliveira, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 159 …, 2012 | 9 | 2012 |
Genetic basis of sleep phenotypes and rare neurodevelopmental syndromes reveal shared molecular pathways M Moysés‐Oliveira, M Paschalidis, LA Souza‐Cunha, ... Journal of Neuroscience Research 101 (7), 1058-1067, 2023 | 8 | 2023 |
Premature ovarian insufficiency is associated with global alterations in the regulatory landscape and gene expression in balanced X-autosome translocations A Di-Battista, BP Favilla, M Zamariolli, N Nunes, A Defelicibus, ... Epigenetics & chromatin 16 (1), 19, 2023 | 8 | 2023 |
Convergent coexpression of autism-associated genes suggests some novel risk genes may not be detectable in large-scale genetic studies C Liao, M Moyses-Oliveira, CEF De Esch, R Bhavsar, X Nuttle, A Li, A Yu, ... Cell Genomics 3 (4), 2023 | 8* | 2023 |
Novel MYT1 variants expose the complexity of oculo‐auriculo‐vertebral spectrum genetic mechanisms M Zamariolli, B Burssed, M Moysés‐Oliveira, M Colovati, FTS Bellucco, ... American Journal of Medical Genetics Part A 185 (7), 2056-2064, 2021 | 8 | 2021 |