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Page 1
Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Malhotra A, Thorpe E, Coffey AJ, Rajkumar R, Adjeman J, Naa Adjeley Adjetey ND, Aglobitse S, Allotey F, Arsov T, Ashong J, Badoe EV, Basel D, Brew Y, Brown C, Bosfield K, Casas K, Cornejo-Olivas M, Davis-Keppen L, Freed A, Gibson K, Jayakar P, Jones MC, Kawome M, Lumaka A, Maier U, Makay P, Manassero G, Marbell-Wilson M, Marcuccilli C, Masser-Frye D, McCarrier J, Mills HS, Montoya JB, Mubungu G, Ngole M, Perez J, Pivnick E, Duenas-Roque MM, Pena Salguero H, Serize A, Shinawi M, Sirchia F, Soler-Alfonso C, Taylor A, Thompson L, Vance G, Vanderver A, Vaux K, Velasco D, Wiafe S; Illumina Laboratory Services Interpretation and Reporting Team; Taft RJ, Perry DL, Kesari A. Malhotra A, et al. Among authors: serize a. HGG Adv. 2025 Apr 7;6(3):100430. doi: 10.1016/j.xhgg.2025.100430. Online ahead of print. HGG Adv. 2025. PMID: 40195116 Free PMC article.
The impact of clinical genome sequencing in a global population with suspected rare genetic disease.
Thorpe E, Williams T, Shaw C, Chekalin E, Ortega J, Robinson K, Button J, Jones MC, Campo MD, Basel D, McCarrier J, Keppen LD, Royer E, Foster-Bonds R, Duenas-Roque MM, Urraca N, Bosfield K, Brown CW, Lydigsen H, Mroczkowski HJ, Ward J, Sirchia F, Giorgio E, Vaux K, Salguero HP, Lumaka A, Mubungu G, Makay P, Ngole M, Lukusa PT, Vanderver A, Muirhead K, Sherbini O, Lah MD, Anderson K, Bazalar-Montoya J, Rodriguez RS, Cornejo-Olivas M, Milla-Neyra K, Shinawi M, Magoulas P, Henry D, Gibson K, Wiafe S, Jayakar P, Salyakina D, Masser-Frye D, Serize A, Perez JE, Taylor A, Shenbagam S, Abou Tayoun A, Malhotra A, Bennett M, Rajan V, Avecilla J, Warren A, Arseneault M, Kalista T, Crawford A, Ajay SS, Perry DL, Belmont J, Taft RJ. Thorpe E, et al. Among authors: serize a. Am J Hum Genet. 2024 Jul 11;111(7):1271-1281. doi: 10.1016/j.ajhg.2024.05.006. Epub 2024 Jun 5. Am J Hum Genet. 2024. PMID: 38843839 Free PMC article.
The Impact of Erythropoietin on Short- and Long-Term Kidney-Related Outcomes in Neonates of Extremely Low Gestational Age. Results of a Multicenter, Double-Blind, Placebo-Controlled Randomized Clinical Trial.
Askenazi DJ, Heagerty PJ, Schmicker RH, Brophy P, Juul SE, Goldstein SL, Hingorani S; PENUT Trial Consortium. Askenazi DJ, et al. J Pediatr. 2021 May;232:65-72.e7. doi: 10.1016/j.jpeds.2021.01.031. Epub 2021 Jan 20. J Pediatr. 2021. PMID: 33484699 Free PMC article. Clinical Trial.
Prolonged Tracheal Intubation and the Association Between Patent Ductus Arteriosus and Bronchopulmonary Dysplasia: A Secondary Analysis of the PDA-TOLERATE trial.
Clyman RI, Kaempf J, Liebowitz M, Erdeve O, Bulbul A, Håkansson S, Lindqvist J, Farooqi A, Katheria A, Sauberan J, Singh J, Nelson K, Wickremasinghe A, Dong L, Hassinger DC, Aucott SW, Hayashi M, Heuchan AM, Carey WA, Derrick M, Fernandez E, Sankar M, Leone T, Perez J, Serize A; PDA-TOLERATE Trial Investigators. Clyman RI, et al. Among authors: serize a. J Pediatr. 2021 Feb;229:283-288.e2. doi: 10.1016/j.jpeds.2020.09.047. Epub 2020 Oct 28. J Pediatr. 2021. PMID: 32979387 Free PMC article. Clinical Trial.
A Randomized Trial of Erythropoietin for Neuroprotection in Preterm Infants.
Juul SE, Comstock BA, Wadhawan R, Mayock DE, Courtney SE, Robinson T, Ahmad KA, Bendel-Stenzel E, Baserga M, LaGamma EF, Downey LC, Rao R, Fahim N, Lampland A, Frantz ID III, Khan JY, Weiss M, Gilmore MM, Ohls RK, Srinivasan N, Perez JE, McKay V, Vu PT, Lowe J, Kuban K, O'Shea TM, Hartman AL, Heagerty PJ; PENUT Trial Consortium. Juul SE, et al. N Engl J Med. 2020 Jan 16;382(3):233-243. doi: 10.1056/NEJMoa1907423. N Engl J Med. 2020. PMID: 31940698 Free PMC article. Clinical Trial.
Lack of Equipoise in the PDA-TOLERATE Trial: A Comparison of Eligible Infants Enrolled in the Trial and Those Treated Outside the Trial.
Liebowitz M, Katheria A, Sauberan J, Singh J, Nelson K, Hassinger DC, Aucott SW, Kaempf J, Kimball A, Fernandez E, Carey WA, Perez J, Serize A, Wickremasinghe A, Dong L, Derrick M, Wolf IS, Heuchan AM, Sankar M, Bulbul A, Clyman RI; PDA-TOLERATE (PDA: TOLEave it alone or Respond And Treat Early) Trial Investigators. Liebowitz M, et al. Among authors: serize a. J Pediatr. 2019 Oct;213:222-226.e2. doi: 10.1016/j.jpeds.2019.05.049. Epub 2019 Jun 27. J Pediatr. 2019. PMID: 31255386 Free PMC article.
12 results