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329 results

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Page 1
The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic counseling in racially and ethnically diverse families.
Suckiel SA, Kelly NR, Odgis JA, Gallagher KM, Sebastin M, Bonini KE, Marathe PN, Brown K, Di Biase M, Ramos MA, Rodriguez JE, Scarimbolo L, Insel BJ, Ferar KDM, Zinberg RE, Diaz GA, Greally JM, Abul-Husn NS, Bauman LJ, Gelb BD, Horowitz CR, Wasserstein MP, Kenny EE. Suckiel SA, et al. Among authors: gelb bd. medRxiv [Preprint]. 2023 Jul 7:2023.07.05.23292193. doi: 10.1101/2023.07.05.23292193. medRxiv. 2023. Update in: Am J Hum Genet. 2023 Dec 7;110(12):2029-2041. doi: 10.1016/j.ajhg.2023.10.016. PMID: 37461450 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: gelb bd. 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.
Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.
Abul-Husn NS, Marathe PN, Kelly NR, Bonini KE, Sebastin M, Odgis JA, Abhyankar A, Brown K, Di Biase M, Gallagher KM, Guha S, Ioele N, Okur V, Ramos MA, Rodriguez JE, Rehman AU, Thomas-Wilson A, Edelmann L, Zinberg RE, Diaz GA, Greally JM, Jobanputra V, Suckiel SA, Horowitz CR, Wasserstein MP, Kenny EE, Gelb BD. Abul-Husn NS, et al. Among authors: gelb bd. Genet Med. 2023 Sep;25(9):100880. doi: 10.1016/j.gim.2023.100880. Epub 2023 May 6. Genet Med. 2023. PMID: 37158195 Free PMC article.
Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.
Bonini KE, Thomas-Wilson A, Marathe PN, Sebastin M, Odgis JA, Di Biase M, Kelly NR, Ramos MA, Insel BJ, Scarimbolo L, Rehman AU, Guha S, Okur V, Abhyankar A, Phadke S, Nava C, Gallagher KM, Elkhoury L, Edelmann L, Zinberg RE, Abul-Husn NS, Diaz GA, Greally JM, Suckiel SA, Horowitz CR, Kenny EE, Wasserstein M, Gelb BD, Jobanputra V. Bonini KE, et al. Among authors: gelb bd. Clin Genet. 2023 Aug;104(2):210-225. doi: 10.1111/cge.14365. Epub 2023 Jun 19. Clin Genet. 2023. PMID: 37334874 Free PMC article.
Parent-Reported Clinical Utility of Pediatric Genomic Sequencing.
Smith HS, Ferket BS, Gelb BD, Hindorff L, Ferar KD, Norton ME, Sahin-Hodoglugil N, Slavotinek A, Lich KH, Berg JS, Russell HV. Smith HS, et al. Among authors: gelb bd. Pediatrics. 2023 Aug 1;152(2):e2022060318. doi: 10.1542/peds.2022-060318. Pediatrics. 2023. PMID: 37470118 Free PMC article.
Physician services and costs after disclosure of diagnostic sequencing results in the NYCKidSeq program.
Berkalieva A, Kelly NR, Fisher A, Hohmann SF, Sebastin M, Di Biase M, Bonini KE, Marathe P, Odgis JA, Suckiel SA, Ramos MA, Rhodes R, Abul-Husn NS, Greally JM, Horowitz CR, Wasserstein MP, Kenny EE, Gelb BD, Ferket BS. Berkalieva A, et al. Among authors: gelb bd. Genet Med. 2024 Jan;26(1):101011. doi: 10.1016/j.gim.2023.101011. Epub 2023 Oct 27. Genet Med. 2024. PMID: 37897232
The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic results disclosure in diverse families.
Suckiel SA, Kelly NR, Odgis JA, Gallagher KM, Sebastin M, Bonini KE, Marathe PN, Brown K, Di Biase M, Ramos MA, Rodriguez JE, Scarimbolo L, Insel BJ, Ferar KDM, Zinberg RE, Diaz GA, Greally JM, Abul-Husn NS, Bauman LJ, Gelb BD, Horowitz CR, Wasserstein MP, Kenny EE. Suckiel SA, et al. Among authors: gelb bd. Am J Hum Genet. 2023 Dec 7;110(12):2029-2041. doi: 10.1016/j.ajhg.2023.10.016. Epub 2023 Nov 24. Am J Hum Genet. 2023. PMID: 38006881 Free PMC article. Clinical Trial.
Evaluating parental personal utility of pediatric genetic and genomic testing in a diverse, multilingual population.
Marathe PN, Suckiel SA, Bonini KE, Kelly NR, Scarimbolo L, Insel BJ, Odgis JA, Sebastin M, Ramos MA, Di Biase M, Gallagher KM, Brown K, Rodriguez JE, Yelton N, Aguiñiga KL, Rodriguez MA, Maria E, Lopez J, Zinberg RE, Diaz GA, Greally JM, Abul-Husn NS, Bauman LJ, Gelb BD, Wasserstein MP, Kenny EE, Horowitz CR. Marathe PN, et al. Among authors: gelb bd. HGG Adv. 2024 Jul 18;5(3):100321. doi: 10.1016/j.xhgg.2024.100321. Epub 2024 Jun 24. HGG Adv. 2024. PMID: 38918948 Free PMC article.
The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants.
Smith HS, Zettler B, Genetti CA, Hickingbotham MR, Coleman TF, Lebo M, Nagy A, Zouk H, Mahanta L, Christensen KD, Pereira S, Shah ND, Gold NB, Walmsley S, Edwards S, Homayouni R, Krasan GP, Hakonarson H, Horowitz CR, Gelb BD, Korf BR, McGuire AL, Holm IA, Green RC. Smith HS, et al. Among authors: gelb bd. Am J Hum Genet. 2024 Sep 10:S0002-9297(24)00297-0. doi: 10.1016/j.ajhg.2024.08.011. Online ahead of print. Am J Hum Genet. 2024. PMID: 39288765 Review.
329 results