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The motivation and process for developing a consortium-wide time and motion study to estimate resource implications of innovations in the use of genome sequencing to inform patient care.
Hoban HG, Yip TA, Chau JC, Bensen JT, Desrosiers LR, Finnila CR, Hindorff LA, Kelly NR, Lynch FL, Rolf BA, Smith HS, Wasserstein MP, Hassmiller Lich K. Hoban HG, et al. Among authors: kelly nr. Clin Transl Sci. 2024 Jan;17(1):e13635. doi: 10.1111/cts.13635. Epub 2023 Dec 8. Clin Transl Sci. 2024. PMID: 38064200 Free PMC article. Review.
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.
Wasserstein MP, Caggana M, Bailey SM, Desnick RJ, Edelmann L, Estrella L, Holzman I, Kelly NR, Kornreich R, Kupchik SG, Martin M, Nafday SM, Wasserman R, Yang A, Yu C, Orsini JJ. Wasserstein MP, et al. Among authors: kelly nr. Genet Med. 2019 Mar;21(3):631-640. doi: 10.1038/s41436-018-0129-y. Epub 2018 Aug 10. Genet Med. 2019. PMID: 30093709 Free PMC article.
The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children.
Odgis JA, Gallagher KM, Suckiel SA, Donohue KE, Ramos MA, Kelly NR, Bertier G, Blackburn C, Brown K, Fielding L, Lopez J, Aguiniga KL, Maria E, Rodriguez JE, Sebastin M, Teitelman N, Watnick D, Yelton NM, Abhyankar A, Abul-Husn NS, Baum A, Bauman LJ, Beal JC, Bloom T, Cunningham-Rundles C, Diaz GA, Dolan S, Ferket BS, Jobanputra V, Kovatch P, McDonald TV, McGoldrick PE, Rhodes R, Rinke ML, Robinson M, Rubinstein A, Shulman LH, Stolte C, Wolf SM, Yozawitz E, Zinberg RE, Greally JM, Gelb BD, Horowitz CR, Wasserstein MP, Kenny EE. Odgis JA, et al. Among authors: kelly nr. Trials. 2021 Jan 14;22(1):56. doi: 10.1186/s13063-020-04953-4. Trials. 2021. PMID: 33446240 Free PMC article.
GUÍA: a digital platform to facilitate result disclosure in genetic counseling.
Suckiel SA, Odgis JA, Gallagher KM, Rodriguez JE, Watnick D, Bertier G, Sebastin M, Yelton N, Maria E, Lopez J, Ramos M, Kelly N, Teitelman N, Beren F, Kaszemacher T, Davis K, Laguerre I, Richardson LD, Diaz GA, Pearson NM, Ellis SB, Stolte C, Robinson M, Kovatch P, Horowitz CR, Gelb BD, Greally JM, Bauman LJ, Zinberg RE, Abul-Husn NS, Wasserstein MP, Kenny EE. Suckiel SA, et al. Genet Med. 2021 May;23(5):942-949. doi: 10.1038/s41436-020-01063-z. Epub 2021 Feb 2. Genet Med. 2021. PMID: 33531665 Free PMC article. Clinical Trial.
Correction to: The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children.
Odgis JA, Gallagher KM, Suckiel SA, Donohue KE, Ramos MA, Kelly NR, Bertier G, Blackburn C, Brown K, Fielding L, Lopez J, Aguiniga KL, Maria E, Rodriguez JE, Sebastin M, Teitelman N, Watnick D, Yelton NM, Abhyankar A, Abul-Husn NS, Baum A, Bauman LJ, Beal JC, Bloom T, Cunningham-Rundles C, Diaz GA, Dolan S, Ferket BS, Jobanputra V, Kovatch P, McDonald TV, McGoldrick PE, Rhodes R, Rinke ML, Robinson M, Rubinstein A, Shulman LH, Stolte C, Wolf SM, Yozawitz E, Zinberg RE, Greally JM, Gelb BD, Horowitz CR, Wasserstein MP, Kenny EE. Odgis JA, et al. Among authors: kelly nr. Trials. 2021 Feb 16;22(1):146. doi: 10.1186/s13063-021-05057-3. Trials. 2021. PMID: 33593377 Free PMC article. No abstract available.
Detection of mosaic variants using genome sequencing in a large pediatric cohort.
Odgis JA, Gallagher KM, Rehman AU, Marathe PN, Bonini KE, Sebastin M, Di Biase M, Brown K, Kelly NR, Ramos MA, Thomas-Wilson A, Guha S, Okur V, Ganapathi M, Elkhoury L, Edelmann L, Zinberg RE, Abul-Husn NS, Diaz GA, Greally JM, Suckiel SA, Jobanputra V, Horowitz CR, Kenny EE, Wasserstein MP, Gelb BD. Odgis JA, et al. Among authors: kelly nr. Am J Med Genet A. 2023 Mar;191(3):699-710. doi: 10.1002/ajmg.a.63062. Epub 2022 Dec 23. Am J Med Genet A. 2023. PMID: 36563179 Free PMC article.
Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.
Felker SA, Lawlor JM, Hiatt SM, Thompson ML, Latner DR, Finnila CR, Bowling KM, Bonnstetter ZT, Bonini KE, Kelly NR, Kelley WV, Hurst AC, Kelly MA, Nakouzi G, Hendon LG, Bebin EM, Kenny EE, Cooper GM. Felker SA, et al. Among authors: kelly nr, kelly ma. bioRxiv [Preprint]. 2023 Jan 13:2023.01.12.523654. doi: 10.1101/2023.01.12.523654. bioRxiv. 2023. PMID: 36711854 Free PMC article. Updated. Preprint.
The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing.
Sebastin M, Odgis JA, Suckiel SA, Bonini KE, Di Biase M, Brown K, Marathe P, Kelly NR, Ramos MA, Rodriguez JE, Aguiñiga KL, Lopez J, Maria E, Rodriguez MA, Yelton NM, Cunningham-Rundles C, Gallagher K, McDonald TV, McGoldrick PE, Robinson M, Rubinstein A, Shulman LH, Wolf SM, Yozawitz E, Zinberg RE, Abul-Husn NS, Bauman LJ, Diaz GA, Ferket BS, Greally JM, Jobanputra V, Gelb BD, Horowitz CR, Kenny EE, Wasserstein MP. Sebastin M, et al. Among authors: kelly nr. Pilot Feasibility Stud. 2023 Mar 22;9(1):47. doi: 10.1186/s40814-023-01259-5. Pilot Feasibility Stud. 2023. PMID: 36949526 Free PMC article.
127 results