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Page 1
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. 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.
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: marathe pn. 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.
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. 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: marathe pn. medRxiv [Preprint]. 2023 Mar 20:2023.03.18.23286992. doi: 10.1101/2023.03.18.23286992. medRxiv. 2023. Update in: Genet Med. 2023 Sep;25(9):100880. doi: 10.1016/j.gim.2023.100880 PMID: 36993157 Free PMC article. Updated. Preprint.
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: marathe pn. 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: marathe pn. 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.
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: marathe pn. 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.
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. 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: marathe pn. 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: marathe pn. 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