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Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability.
Malinowski J, Miller DT, Demmer L, Gannon J, Pereira EM, Schroeder MC, Scheuner MT, Tsai AC, Hickey SE, Shen J; ACMG Professional Practice and Guidelines Committee. Malinowski J, et al. Among authors: pereira em. Genet Med. 2020 Jun;22(6):986-1004. doi: 10.1038/s41436-020-0771-z. Epub 2020 Mar 23. Genet Med. 2020. PMID: 32203227 Free PMC article.
Chromosome 22q11.2 deletion syndrome.
Pereira E, Marion R. Pereira E, et al. Pediatr Rev. 2015 Jun;36(6):270-2; discussion 272. doi: 10.1542/pir.36-6-270. Pediatr Rev. 2015. PMID: 26034260 No abstract available.
Contiguous Gene Syndromes.
Pereira E, Marion R. Pereira E, et al. Pediatr Rev. 2018 Jan;39(1):46-49. doi: 10.1542/pir.2016-0073. Pediatr Rev. 2018. PMID: 29292292 Review. No abstract available.
COVID-19's Impact on Genetics at One Medical Center in New York.
Pereira EM; Columbia University Clinical Genetics Professionals; Chung WK. Pereira EM, et al. Genet Med. 2020 Sep;22(9):1467-1469. doi: 10.1038/s41436-020-0857-7. Epub 2020 Jun 5. Genet Med. 2020. PMID: 32499605 Free PMC article. No abstract available.
Hepatoblastoma in a mosaic trisomy 18 patient.
Pereira EM, Marion R, Ramesh KH, Kim JS, Ewart M, Ricafort R. Pereira EM, et al. J Pediatr Hematol Oncol. 2012 May;34(4):e145-8. doi: 10.1097/MPH.0b013e3182459ee8. J Pediatr Hematol Oncol. 2012. PMID: 22469941 Review.
Achondroplasia.
Pereira E. Pereira E. Pediatr Rev. 2019 Jun;40(6):316-318. doi: 10.1542/pir.2018-0009. Pediatr Rev. 2019. PMID: 31152107 No abstract available.
Gene Therapy Update.
Pereira EM. Pereira EM. Pediatr Rev. 2022 Sep 1;43(9):536-537. doi: 10.1542/pir.2021-005091. Pediatr Rev. 2022. PMID: 36045154 No abstract available.
170 results