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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: guha s. 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.
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: guha s. 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.
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: guha s. 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: guha s. 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.
Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease.
Hays T, Hernan R, Disco M, Griffin EL, Goldshtrom N, Vargas D, Krishnamurthy G, Bomback M, Rehman AU, Wilson AT, Guha S, Phadke S, Okur V, Robinson D, Felice V, Abhyankar A, Jobanputra V, Chung WK. Hays T, et al. Among authors: guha s. Circ Genom Precis Med. 2023 Oct;16(5):415-420. doi: 10.1161/CIRCGEN.122.004050. Epub 2023 Jul 7. Circ Genom Precis Med. 2023. PMID: 37417234 Free article.
A Multiscale Perspective on Chromatin Architecture through Polymer Physics.
Vercellone F, Chiariello AM, Esposito A, Conte M, Abraham A, Fontana A, Di Pierno F, Tafuri F, Guha S, Kundu S, Di Carluccio C, Nicodemi M, Bianco S. Vercellone F, et al. Among authors: guha s. Physiology (Bethesda). 2024 Nov 27. doi: 10.1152/physiol.00050.2024. Online ahead of print. Physiology (Bethesda). 2024. PMID: 39601793 Review.
1,093 results