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Page 1
Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels.
Wilcox EH, Webb RF, Tshering KC, Hughes MY, Cavé H, DiStefano MT, Dziadzio H, Garber K, Gelb BD, Gripp KW, Ichikawa S, Lee JA, McCurry H, Tartaglia M, Williams B, Zenker M, Vincent LM, Mason-Suares H; ClinGen RASopathy Expert Panel. Wilcox EH, et al. Among authors: gelb bd. Genet Med Open. 2025 Apr 17;3:103430. doi: 10.1016/j.gimo.2025.103430. eCollection 2025. Genet Med Open. 2025. PMID: 40496714 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 Oct 3;111(10):2094-2106. doi: 10.1016/j.ajhg.2024.08.011. Epub 2024 Sep 16. Am J Hum Genet. 2024. PMID: 39288765 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.
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 Free PMC article.
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.
Employing effective recruitment and retention strategies to engage a diverse pediatric population in genomics research.
Ramos MA, Bonini KE, Scarimbolo L, Kelly NR, Insel B, Suckiel SA, Brown K, Di Biase M, Gallagher KM, Lopez J, Aguiñiga KL, Marathe PN, Maria E, Odgis JA, Rodriguez JE, Rodriguez MA, Ruiz N, Sebastin M, Yelton NM, Cunningham-Rundles C, Gertner M, Laguerre I, McDonald TV, McGoldrick PE, Robinson M, Rubinstein A, Shulman LH, Williams T, Wolf SM, Yozawitz EG, Zinberg RE, Abul-Husn NS, Bauman LJ, Diaz GA, Ferket BS, Greally JM, Jobanputra V, Gelb BD, Kenny EE, Wasserstein MP, Horowitz CR. Ramos MA, et al. Among authors: gelb bd. Am J Hum Genet. 2024 Dec 5;111(12):2607-2617. doi: 10.1016/j.ajhg.2024.10.015. Epub 2024 Nov 19. Am J Hum Genet. 2024. PMID: 39566494 Free PMC article.
346 results