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The BabySeq project: implementing genomic sequencing in newborns.
Holm IA, Agrawal PB, Ceyhan-Birsoy O, Christensen KD, Fayer S, Frankel LA, Genetti CA, Krier JB, LaMay RC, Levy HL, McGuire AL, Parad RB, Park PJ, Pereira S, Rehm HL, Schwartz TS, Waisbren SE, Yu TW; BabySeq Project Team; Green RC, Beggs AH. Holm IA, et al. Among authors: fayer s. BMC Pediatr. 2018 Jul 9;18(1):225. doi: 10.1186/s12887-018-1200-1. BMC Pediatr. 2018. PMID: 29986673 Free PMC article. Clinical Trial.
Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report.
Murry JB, Machini K, Ceyhan-Birsoy O, Kritzer A, Krier JB, Lebo MS, Fayer S, Genetti CA, VanNoy GE, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Beggs AH, Rehm HL; BabySeq Project Team. Murry JB, et al. Among authors: fayer s. Cold Spring Harb Mol Case Stud. 2018 Aug 1;4(4):a002873. doi: 10.1101/mcs.a002873. Print 2018 Aug. Cold Spring Harb Mol Case Stud. 2018. PMID: 29728376 Free PMC article.
Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project.
Genetti CA, Schwartz TS, Robinson JO, VanNoy GE, Petersen D, Pereira S, Fayer S, Peoples HA, Agrawal PB, Betting WN, Holm IA, McGuire AL, Waisbren SE, Yu TW, Green RC, Beggs AH, Parad RB; BabySeq Project Team. Genetti CA, et al. Among authors: fayer s. Genet Med. 2019 Mar;21(3):622-630. doi: 10.1038/s41436-018-0105-6. Epub 2018 Sep 13. Genet Med. 2019. PMID: 30209271 Free PMC article.
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.
Ceyhan-Birsoy O, Murry JB, Machini K, Lebo MS, Yu TW, Fayer S, Genetti CA, Schwartz TS, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Rehm HL, Beggs AH; BabySeq Project Team. Ceyhan-Birsoy O, et al. Among authors: fayer s. Am J Hum Genet. 2019 Jan 3;104(1):76-93. doi: 10.1016/j.ajhg.2018.11.016. Am J Hum Genet. 2019. PMID: 30609409 Free PMC article.
Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing.
Mackay ZP, Dukhovny D, Phillips KA, Beggs AH, Green RC, Parad RB, Christensen KD; BabySeq Project Team. Mackay ZP, et al. Value Health. 2020 May;23(5):559-565. doi: 10.1016/j.jval.2020.01.017. Epub 2020 Mar 20. Value Health. 2020. PMID: 32389220 Free PMC article. Clinical Trial.
Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial.
Pereira S, Smith HS, Frankel LA, Christensen KD, Islam R, Robinson JO, Genetti CA, Blout Zawatsky CL, Zettler B, Parad RB, Waisbren SE, Beggs AH, Green RC, Holm IA, McGuire AL; BabySeq Project Team. Pereira S, et al. JAMA Pediatr. 2021 Nov 1;175(11):1132-1141. doi: 10.1001/jamapediatrics.2021.2829. JAMA Pediatr. 2021. PMID: 34424265 Free PMC article. Clinical Trial.
Parents' decision-making regarding whether to receive adult-onset only genetic findings for their children: Findings from the BabySeq Project.
Pereira S, Gutierrez AM, Robinson JO, Christensen KD, Genetti CA, Blout Zawatsky CL, Hsu RL, Zettler B, Uveges MK, Parad RB, Beggs AH, Holm IA, Green RC, McGuire AL; BabySeq Project Team. Pereira S, et al. Genet Med. 2023 Mar;25(3):100002. doi: 10.1016/j.gim.2022.100002. Epub 2022 Dec 20. Genet Med. 2023. PMID: 36549595 Free PMC article.
Search for exotic decays of the Higgs boson to a pair of pseudoscalars in the μμbb and ττbb final states.
CMS Collaboration; Hayrapetyan A, Tumasyan A, Adam W, Andrejkovic JW, Bergauer T, Chatterjee S, Damanakis K, Dragicevic M, Del Valle AE, Hussain PS, Jeitler M, Krammer N, Liko D, Mikulec I, Schieck J, Schöfbeck R, Schwarz D, Sonawane M, Templ S, Waltenberger W, Wulz CE, Darwish MR, Janssen T, Van Mechelen P, Bols ES, D'Hondt J, Dansana S, De Moor A, Delcourt M, El Faham H, Lowette S, Makarenko I, Müller D, Sahasransu AR, Tavernier S, Tytgat M, Van Putte S, Vannerom D, Clerbaux B, De Lentdecker G, Favart L, Hohov D, Jaramillo J, Khalilzadeh A, Lee K, Mahdavikhorrami M, Malara A, Paredes S, Pétré L, Postiau N, Thomas L, Bemden MV, Velde CV, Vanlaer P, De Coen M, Dobur D, Hong Y, Knolle J, Lambrecht L, Mestdach G, Rendón C, Samalan A, Skovpen K, Van Den Bossche N, Wezenbeek L, Benecke A, Bruno G, Caputo C, Delaere C, Donertas IS, Giammanco A, Jaffel K, Jain S, Lemaitre V, Lidrych J, Mastrapasqua P, Mondal K, Tran TT, Wertz S, Alves GA, Coelho E, Hensel C, Menezes De Oliveira T, Moraes A, Rebello Teles P, Soeiro M, Aldá Júnior WL, Alves Gallo Pereira M, Barroso Ferreira Filho M, Brandao Malbouisson H, Carvalho W, Chinellato J, Da Costa EM, Da Silveira GG, De Jesus Damiao D, Fonseca De… See abstract for full author list ➔ CMS Collaboration, et al. Among authors: fayer s. Eur Phys J C Part Fields. 2024;84(5):493. doi: 10.1140/epjc/s10052-024-12727-4. Epub 2024 May 14. Eur Phys J C Part Fields. 2024. PMID: 38757620 Free PMC article.
75 results