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Page 1
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
Owen MJ, Lefebvre S, Hansen C, Kunard CM, Dimmock DP, Smith LD, Scharer G, Mardach R, Willis MJ, Feigenbaum A, Niemi AK, Ding Y, Van Der Kraan L, Ellsworth K, Guidugli L, Lajoie BR, McPhail TK, Mehtalia SS, Chau KK, Kwon YH, Zhu Z, Batalov S, Chowdhury S, Rego S, Perry J, Speziale M, Nespeca M, Wright MS, Reese MG, De La Vega FM, Azure J, Frise E, Rigby CS, White S, Hobbs CA, Gilmer S, Knight G, Oriol A, Lenberg J, Nahas SA, Perofsky K, Kim K, Carroll J, Coufal NG, Sanford E, Wigby K, Weir J, Thomson VS, Fraser L, Lazare SS, Shin YH, Grunenwald H, Lee R, Jones D, Tran D, Gross A, Daigle P, Case A, Lue M, Richardson JA, Reynders J, Defay T, Hall KP, Veeraraghavan N, Kingsmore SF. Owen MJ, et al. Among authors: speziale m. Nat Commun. 2022 Jul 26;13(1):4057. doi: 10.1038/s41467-022-31446-6. Nat Commun. 2022. PMID: 35882841 Free PMC article.
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.
Dimmock DP, Clark MM, Gaughran M, Cakici JA, Caylor SA, Clarke C, Feddock M, Chowdhury S, Salz L, Cheung C, Bird LM, Hobbs C, Wigby K, Farnaes L, Bloss CS, Kingsmore SF; RCIGM Investigators. Dimmock DP, et al. Am J Hum Genet. 2020 Nov 5;107(5):942-952. doi: 10.1016/j.ajhg.2020.10.003. Am J Hum Genet. 2020. PMID: 33157007 Free PMC article. Clinical Trial.
Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome.
Owen MJ, Niemi AK, Dimmock DP, Speziale M, Nespeca M, Chau KK, Van Der Kraan L, Wright MS, Hansen C, Veeraraghavan N, Ding Y, Lenberg J, Chowdhury S, Hobbs CA, Batalov S, Zhu Z, Nahas SA, Gilmer S, Knight G, Lefebvre S, Reynders J, Defay T, Weir J, Thomson VS, Fraser L, Lajoie BR, McPhail TK, Mehtalia SS, Kunard CM, Hall KP, Kingsmore SF. Owen MJ, et al. Among authors: speziale m. N Engl J Med. 2021 Jun 3;384(22):2159-2161. doi: 10.1056/NEJMc2100365. N Engl J Med. 2021. PMID: 34077649 Free PMC article. No abstract available.
Medical and surgical interventions and outcomes for infants with trisomy 18 (T18) or trisomy 13 (T13) at children's hospitals neonatal intensive care units (NICUs).
Acharya K, Leuthner SR, Zaniletti I, Niehaus JZ, Bishop CE, Coghill CH, Datta A, Dereddy N, DiGeronimo R, Jackson L, Ling CY, Matoba N, Natarajan G, Nayak SP, Schlegel AB, Seale J, Shah A, Weiner J, Williams HO, Wojcik MH, Fry JT, Sullivan K; Palliative Care and Ethics Focus Group of the Children’s Hospital Neonatal Consortium (CHNC). Acharya K, et al. J Perinatol. 2021 Jul;41(7):1745-1754. doi: 10.1038/s41372-021-01111-9. Epub 2021 Jun 10. J Perinatol. 2021. PMID: 34112961 Free PMC article.
Withdrawal of artificial nutrition and hydration: a survey of level IV neonatal intensive care units.
Saoud R, Locke D, Fry JT, Matoba N, Datta A, DiGeronimo R, Leuthner SR, Coghill CH, Natarajan G, Niehaus JZ, Schlegel AB, Weiner J, Dereddy N, Shah A, Sullivan KM; Children’s Hospitals Neonatal Consortium (CHNC). Saoud R, et al. J Perinatol. 2021 Sep;41(9):2372-2374. doi: 10.1038/s41372-021-01011-y. Epub 2021 Mar 23. J Perinatol. 2021. PMID: 33758396 No abstract available.
Predictive Models of Neurodevelopmental Outcomes After Neonatal Hypoxic-Ischemic Encephalopathy.
Peeples ES, Rao R, Dizon MLV, Johnson YR, Joe P, Flibotte J, Hossain T, Smith D, Hamrick S, DiGeronimo R, Natarajan G, Lee KS, Yanowitz TD, Mietzsch U, Wu TW, Maitre NL, Pallotto EK, Speziale M, Mathur AM, Zaniletti I, Massaro A; Children’s Hospitals Neonatal Consortium Hypoxic-Ischemic Encephalopathy Focus Group. Peeples ES, et al. Among authors: speziale m. Pediatrics. 2021 Feb;147(2):e2020022962. doi: 10.1542/peds.2020-022962. Epub 2021 Jan 15. Pediatrics. 2021. PMID: 33452064 Clinical Trial.
Venovenous versus venoarterial extracorporeal membrane oxygenation among infants with hypoxic-ischemic encephalopathy: is there a difference in outcome?
Agarwal P, Natarajan G, Sullivan K, Rao R, Rintoul N, Zaniletti I, Keene S, Mietzsch U, Massaro AN, Billimoria Z, Dirnberger D, Hamrick S, Seabrook RB, Weems MF, Cleary JP, Gray BW, DiGeronimo R; Children’s Hospital Neonatal Consortium (CHNC) ECMO and HIE focus groups. Agarwal P, et al. J Perinatol. 2021 Aug;41(8):1916-1923. doi: 10.1038/s41372-021-01089-4. Epub 2021 May 19. J Perinatol. 2021. PMID: 34012056
Predicting treatment of pulmonary hypertension at discharge in infants with congenital diaphragmatic hernia.
Mahmood B, Murthy K, Rintoul N, Weems M, Keene S, Brozanski B, DiGeronimo R, Haberman B, Hedrick H, Gien J, Seabrook R, Ali N, Chapman R, Daniel J, Harrison A, Johnson Y, Porta NFM, Uhing M, Zaniletti I, Grover TR; Children’s Hospitals Neonatal Consortium. Mahmood B, et al. J Perinatol. 2022 Jan;42(1):45-52. doi: 10.1038/s41372-021-01249-6. Epub 2021 Oct 28. J Perinatol. 2022. PMID: 34711937
24 results