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Page 1
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: machini k. 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.
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. 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.
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. 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: machini k. 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.
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.
A curated gene list for reporting results of newborn genomic sequencing.
Ceyhan-Birsoy O, Machini K, Lebo MS, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire A, Green RC, Beggs AH, Rehm HL. Ceyhan-Birsoy O, et al. Among authors: machini k. Genet Med. 2017 Jul;19(7):809-818. doi: 10.1038/gim.2016.193. Epub 2017 Jan 12. Genet Med. 2017. PMID: 28079900 Free PMC article.
Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project.
Machini K, Ceyhan-Birsoy O, Azzariti DR, Sharma H, Rossetti P, Mahanta L, Hutchinson L, McLaughlin H; MedSeq Project; Green RC, Lebo M, Rehm HL. Machini K, et al. Am J Hum Genet. 2019 Jul 3;105(1):177-188. doi: 10.1016/j.ajhg.2019.05.017. Epub 2019 Jun 27. Am J Hum Genet. 2019. PMID: 31256874 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.
The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.
Vassy JL, Christensen KD, Schonman EF, Blout CL, Robinson JO, Krier JB, Diamond PM, Lebo M, Machini K, Azzariti DR, Dukhovny D, Bates DW, MacRae CA, Murray MF, Rehm HL, McGuire AL, Green RC; MedSeq Project. Vassy JL, et al. Among authors: machini k. Ann Intern Med. 2017 Jun 27;167(3):159-169. doi: 10.7326/M17-0188. Print 2017 Aug 1. Ann Intern Med. 2017. PMID: 28654958 Free PMC article. Clinical Trial.
30 results