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108 results

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Page 1
Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study.
Longo N, Zori R, Wasserstein MP, Vockley J, Burton BK, Decker C, Li M, Lau K, Jiang J, Larimore K, Thomas JA. Longo N, et al. Among authors: wasserstein mp. Orphanet J Rare Dis. 2018 Jul 4;13(1):108. doi: 10.1186/s13023-018-0858-7. Orphanet J Rare Dis. 2018. PMID: 29973227 Free PMC article. Clinical Trial.
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: wasserstein mp. 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. Among authors: wasserstein mp. 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: wasserstein mp. 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. 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.
Pharmacokinetics of sapropterin in patients with phenylketonuria.
Feillet F, Clarke L, Meli C, Lipson M, Morris AA, Harmatz P, Mould DR, Green B, Dorenbaum A, Giovannini M, Foehr E; Sapropterin Research Group. Feillet F, et al. Clin Pharmacokinet. 2008;47(12):817-25. doi: 10.2165/0003088-200847120-00006. Clin Pharmacokinet. 2008. PMID: 19026037 Clinical Trial.
Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial.
Longo N, Harding CO, Burton BK, Grange DK, Vockley J, Wasserstein M, Rice GM, Dorenbaum A, Neuenburg JK, Musson DG, Gu Z, Sile S. Longo N, et al. Lancet. 2014 Jul 5;384(9937):37-44. doi: 10.1016/S0140-6736(13)61841-3. Epub 2014 Apr 14. Lancet. 2014. PMID: 24743000 Free PMC article. Clinical Trial.
108 results