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2012 1
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2018 13
2019 18
2020 6
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Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.
Saunders CJ, Miller NA, Soden SE, Dinwiddie DL, Noll A, Alnadi NA, Andraws N, Patterson ML, Krivohlavek LA, Fellis J, Humphray S, Saffrey P, Kingsbury Z, Weir JC, Betley J, Grocock RJ, Margulies EH, Farrow EG, Artman M, Safina NP, Petrikin JE, Hall KP, Kingsmore SF. Saunders CJ, et al. Sci Transl Med. 2012 Oct 3;4(154):154ra135. doi: 10.1126/scitranslmed.3004041. Sci Transl Med. 2012. PMID: 23035047 Free PMC article.
We describe 50-hour differential diagnosis of genetic disorders by whole-genome sequencing (WGS) that features automated bioinformatic analysis and is intended to be a prototype for use in neonatal intensive care units. ...Sequencing of parents
We describe 50-hour differential diagnosis of genetic disorders by whole-genome sequencing (WGS) that features automate …
Parents' interest in whole-genome sequencing of newborns.
Goldenberg AJ, Dodson DS, Davis MM, Tarini BA. Goldenberg AJ, et al. Genet Med. 2014 Jan;16(1):78-84. doi: 10.1038/gim.2013.76. Epub 2013 Jun 6. Genet Med. 2014. PMID: 23743552 Free PMC article.
PURPOSE: The aim of this study was to assess parents' interest in whole-genome sequencing for newborns. METHODS: We conducted a survey of a nationally representative sample of 1,539 parents about their interest in whole
PURPOSE: The aim of this study was to assess parents' interest in whole-genome sequencing for newborns
Ethical Issues in Newborn Sequencing Research: The Case Study of BabySeq.
Ross LF, Clayton EW. Ross LF, et al. Pediatrics. 2019 Dec;144(6):e20191031. doi: 10.1542/peds.2019-1031. Epub 2019 Nov 12. Pediatrics. 2019. PMID: 31719124
The BabySeq Project is a study funded by the National Institutes of Health and aimed at exploring the medical, behavioral, and economic impacts of integrating genomic sequencing into the care of both healthy newborns and newborns who are sick. ...The BabySeq …
The BabySeq Project is a study funded by the National Institutes of Health and aimed at exploring the medical, behavioral, and economic impa …
Parents perspectives on whole genome sequencing for their children: qualified enthusiasm?
Anderson JA, Meyn MS, Shuman C, Zlotnik Shaul R, Mantella LE, Szego MJ, Bowdin S, Monfared N, Hayeems RZ. Anderson JA, et al. J Med Ethics. 2017 Aug;43(8):535-539. doi: 10.1136/medethics-2016-103564. Epub 2016 Nov 25. J Med Ethics. 2017. PMID: 27888232
OBJECTIVE: To better understand the consequences of returning whole genome sequencing (WGS) results in paediatrics and facilitate its evidence-based clinical implementation, we studied parents' experiences with WGS and their preferences for the return …
OBJECTIVE: To better understand the consequences of returning whole genome sequencing (WGS) results in paediatrics and …
Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study).
Chassagne A, Pélissier A, Houdayer F, Cretin E, Gautier E, Salvi D, Kidri S, Godard A, Thauvin-Robinet C, Masurel A, Lehalle D, Jean-Marçais N, Thevenon J, Lesca G, Putoux A, Cordier MP, Dupuis-Girod S, Till M, Duffourd Y, Rivière JB, Joly L, Juif C, Putois O, Ancet P, Lapointe AS, Morin P, Edery P, Rossi M, Sanlaville D, Béjean S, Peyron C, Faivre L. Chassagne A, et al. Eur J Hum Genet. 2019 May;27(5):701-710. doi: 10.1038/s41431-018-0332-y. Epub 2019 Feb 1. Eur J Hum Genet. 2019. PMID: 30710147 Free PMC article.
Exome sequencing (ES) has revolutionized diagnostic procedures in medical genetics, particularly for developmental diseases. ...The quantitative study aimed to determine the preferences of 513 parents regarding the disclosure of ES results. It showed that parents
Exome sequencing (ES) has revolutionized diagnostic procedures in medical genetics, particularly for developmental diseases. ...The q …
Neonatologists' Attitudes About Diagnostic Whole-Genome Sequencing in the NICU.
Knapp B, Decker C, Lantos JD. Knapp B, et al. Pediatrics. 2019 Jan;143(Suppl 1):S54-S57. doi: 10.1542/peds.2018-1099J. Pediatrics. 2019. PMID: 30600272 Free article.
Using focus group methodology, we studied the attitudes of neonatologists regarding diagnostic rapid genome sequencing for newborns who were critically ill in a NICU. One focus group took place within the first year after whole-genome sequenc
Using focus group methodology, we studied the attitudes of neonatologists regarding diagnostic rapid genome sequencing for …
Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project.
Pereira S, Robinson JO, Gutierrez AM, Petersen DK, Hsu RL, Lee CH, Schwartz TS, Holm IA, Beggs AH, Green RC, McGuire AL; BabySeq Project Group. Pereira S, et al. Pediatrics. 2019 Jan;143(Suppl 1):S6-S13. doi: 10.1542/peds.2018-1099C. Pediatrics. 2019. PMID: 30600265 Free PMC article. Clinical Trial.
BACKGROUND AND OBJECTIVES: There is interest in applying genomic sequencing (GS) to newborns' clinical care. Here we explore parents' and clinicians' attitudes toward and perceptions of the risks, benefits, and utility of newborn GS compared wit …
BACKGROUND AND OBJECTIVES: There is interest in applying genomic sequencing (GS) to newborns' clinical care. Here we ex …
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.
BACKGROUND: The greatest opportunity for lifelong impact of genomic sequencing is during the newborn period. The "BabySeq Project" is a randomized trial that explores the medical, behavioral, and economic impacts of integrating genomic sequencing into the car …
BACKGROUND: The greatest opportunity for lifelong impact of genomic sequencing is during the newborn period. The "BabySeq Proj …
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
Szafranski P, Gambin T, Dharmadhikari AV, Akdemir KC, Jhangiani SN, Schuette J, Godiwala N, Yatsenko SA, Sebastian J, Madan-Khetarpal S, Surti U, Abellar RG, Bateman DA, Wilson AL, Markham MH, Slamon J, Santos-Simarro F, Palomares M, Nevado J, Lapunzina P, Chung BH, Wong WL, Chu YWY, Mok GTK, Kerem E, Reiter J, Ambalavanan N, Anderson SA, Kelly DR, Shieh J, Rosenthal TC, Scheible K, Steiner L, Iqbal MA, McKinnon ML, Hamilton SJ, Schlade-Bartusiak K, English D, Hendson G, Roeder ER, DeNapoli TS, Littlejohn RO, Wolff DJ, Wagner CL, Yeung A, Francis D, Fiorino EK, Edelman M, Fox J, Hayes DA, Janssens S, De Baere E, Menten B, Loccufier A, Vanwalleghem L, Moerman P, Sznajer Y, Lay AS, Kussmann JL, Chawla J, Payton DJ, Phillips GE, Brosens E, Tibboel D, de Klein A, Maystadt I, Fisher R, Sebire N, Male A, Chopra M, Pinner J, Malcolm G, Peters G, Arbuckle S, Lees M, Mead Z, Quarrell O, Sayers R, Owens M, Shaw-Smith C, Lioy J, McKay E, de Leeuw N, Feenstra I, Spruijt L, Elmslie F, Thiruchelvam T, Bacino CA, Langston C, Lupski JR, Sen P, Popek E, Stankiewicz P. Szafranski P, et al. Hum Genet. 2016 May;135(5):569-586. doi: 10.1007/s00439-016-1655-9. Epub 2016 Apr 12. Hum Genet. 2016. PMID: 27071622 Free PMC article.
Using custom-designed array comparative genomic hybridization, Sanger sequencing, whole exome sequencing (WES), and bioinformatic analyses, we studied 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. ...Together with …
Using custom-designed array comparative genomic hybridization, Sanger sequencing, whole exome sequencing (WES), and bio …
Rapid Challenges: Ethics and Genomic Neonatal Intensive Care.
Gyngell C, Newson AJ, Wilkinson D, Stark Z, Savulescu J. Gyngell C, et al. Pediatrics. 2019 Jan;143(Suppl 1):S14-S21. doi: 10.1542/peds.2018-1099D. Pediatrics. 2019. PMID: 30600266 Free PMC article.
Rapid genomic testing in the NICU is expected to be genomic medicine's "critical application," providing such clear benefits that it drives the adoption of genomics more broadly. Studies from multiple centers worldwide have now demonstrated the clinical utility and cost-ef …
Rapid genomic testing in the NICU is expected to be genomic medicine's "critical application," providing such clear benefits that it …
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