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Page 1
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. 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.
Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis.
Ahram DF, Lim TY, Ke J, Jin G, Verbitsky M, Bodria M, Kil BH, Chatterjee D, Piva SE, Marasa M, Zhang JY, Cocchi E, Caridi G, Gucev Z, Lozanovski VJ, Pisani I, Izzi C, Savoldi G, Gnutti B, Capone VP, Morello W, Guarino S, Esposito P, Lambert S, Radhakrishnan J, Appel GB, Uy NS, Rao MK, Canetta PA, Bomback AS, Nestor JG, Hays T, Cohen DJ, Finale C, Wijk JAEV, La Scola C, Baraldi O, Tondolo F, Di Renzo D, Jamry-Dziurla A, Pezzutto A, Manca V, Mitrotti A, Santoro D, Conti G, Martino M, Giordano M, Gesualdo L, Zibar L, Masnata G, Bonomini M, Alberti D, La Manna G, Caliskan Y, Ranghino A, Marzuillo P, Kiryluk K, Krzemień G, Miklaszewska M, Lin F, Montini G, Scolari F, Fiaccadori E, Arapović A, Saraga M, McKiernan J, Alam S, Zaniew M, Szczepańska M, Szmigielska A, Sikora P, Drożdż D, Mizerska-Wasiak M, Mane S, Lifton RP, Tasic V, Latos-Bielenska A, Gharavi AG, Ghiggeri GM, Materna-Kiryluk A, Westland R, Sanna-Cherchi S. Ahram DF, et al. Among authors: hays t. J Am Soc Nephrol. 2023 Jun 1;34(6):1105-1119. doi: 10.1681/ASN.0000000000000132. Epub 2023 Mar 30. J Am Soc Nephrol. 2023. PMID: 36995132 Free PMC article.
A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease.
Richter F, Rutherford KD, Cooke AJ, Meshkati M, Eddy-Abrams V, Greene D, Kosowsky J, Park Y, Aggarwal S, Burke RJ, Chang W, Connors J, Giannone PJ, Hays T, Khattar D, Polak M, Senaldi L, Smith-Raska M, Sridhar S, Steiner L, Swanson JR, Tauber KA, Barbosa M, Guttmann KF, Turro E. Richter F, et al. Among authors: hays t. Am J Kidney Dis. 2024 Jun;83(6):829-833. doi: 10.1053/j.ajkd.2023.12.011. Epub 2024 Jan 10. Am J Kidney Dis. 2024. PMID: 38211685
The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction.
Brar BK, Blakemore K, Hertenstein C, Miller JL, Miller KA, Shamseldin H, Maddirevula S, Hays T, Lianoglou B, Dukhovny S, Baker LA, Sparks TN, Wapner R, Alkuraya FS, Norton ME, Jelin AC; Fetal Sequencing Consortium. Brar BK, et al. Among authors: hays t. Prenat Diagn. 2024 Feb;44(2):196-204. doi: 10.1002/pd.6425. Epub 2023 Aug 18. Prenat Diagn. 2024. PMID: 37594370
What is in a name: defining pediatric refractory ITP.
Nakano TA, Grimes AB, Klaassen RJ, Lambert MP, Neunert C, Rothman JA, Shimano KA, Amend C, Askew M, Badawy SM, Baker JM, Breakey V, Crary S, Davini M, Fritch Lilla S, Gilbert M, Hays T, Hege K, Hillier K, Jacobson-Kelly A, Kaicker S, Kim TO, Kochhar M, Leblanc T, Martinelli M, Nunez M, Remiker A, Schultz C, Sharma R, Grace RF. Nakano TA, et al. Among authors: hays t. Blood Adv. 2024 Oct 8;8(19):5112-5117. doi: 10.1182/bloodadvances.2024012707. Blood Adv. 2024. PMID: 39059013 Free PMC article.
193 results