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Whole-genome sequencing holds the key to the success of gene-targeted therapies.
Vockley J, Aartsma-Rus A, Cohen JL, Cowsert LM, Howell RR, Yu TW, Wasserstein MP, Defay T. Vockley J, et al. Among authors: wasserstein mp. Am J Med Genet C Semin Med Genet. 2023 Mar;193(1):19-29. doi: 10.1002/ajmg.c.32017. Epub 2022 Dec 1. Am J Med Genet C Semin Med Genet. 2023. PMID: 36453229
Are we prepared to deliver gene-targeted therapies for rare diseases?
Yu TW, Kingsmore SF, Green RC, MacKenzie T, Wasserstein M, Caggana M, Gold NB, Kennedy A, Kishnani PS, Might M, Brooks PJ, Morris JA, Parisi MA, Urv TK. Yu TW, et al. Am J Med Genet C Semin Med Genet. 2023 Mar;193(1):7-12. doi: 10.1002/ajmg.c.32029. Epub 2023 Jan 24. Am J Med Genet C Semin Med Genet. 2023. PMID: 36691939
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: wasserstein mp. Genet Med. 2024 Jan;26(1):101011. doi: 10.1016/j.gim.2023.101011. Epub 2023 Oct 27. Genet Med. 2024. PMID: 37897232
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: wasserstein mp. 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 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: wasserstein mp. medRxiv [Preprint]. 2023 Jul 7:2023.07.05.23292193. doi: 10.1101/2023.07.05.23292193. medRxiv. 2023. PMID: 37461450 Free PMC article. Updated. Preprint.
Clinical variants paired with phenotype: A rich resource for brain gene curation.
Chopra M, Savatt JM, Bingaman TI, Good ME, Morgan A, Cooney C, Rossel AM, VanHoute B, Cordova I, Mahida S, Lanzotti V, Baldridge D, Gurnett CA, Piven J, Hazlett H, Pomeroy SL, Sahin M, Payne PRO, Riggs ER, Constantino JN; Brain Gene Registry Consortium. Chopra M, et al. Genet Med. 2024 Mar;26(3):101035. doi: 10.1016/j.gim.2023.101035. Epub 2023 Dec 4. Genet Med. 2024. PMID: 38059438 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: wasserstein mp. medRxiv [Preprint]. 2023 Mar 20:2023.03.18.23286992. doi: 10.1101/2023.03.18.23286992. medRxiv. 2023. PMID: 36993157 Free PMC article. Updated. Preprint.
Free sialic acid storage disorder: Progress and promise.
Huizing M, Hackbarth ME, Adams DR, Wasserstein M, Patterson MC, Walkley SU, Gahl WA; FSASD Consortium. Huizing M, et al. Neurosci Lett. 2021 Jun 11;755:135896. doi: 10.1016/j.neulet.2021.135896. Epub 2021 Apr 20. Neurosci Lett. 2021. PMID: 33862140 Free PMC article. Review.
77 results