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An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.
Dimmock DP, Clark MM, Gaughran M, Cakici JA, Caylor SA, Clarke C, Feddock M, Chowdhury S, Salz L, Cheung C, Bird LM, Hobbs C, Wigby K, Farnaes L, Bloss CS, Kingsmore SF; RCIGM Investigators. Dimmock DP, et al. Among authors: chowdhury s. Am J Hum Genet. 2020 Nov 5;107(5):942-952. doi: 10.1016/j.ajhg.2020.10.003. Am J Hum Genet. 2020. PMID: 33157007 Free PMC article. Clinical Trial.
Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis.
Hildreth A, Wigby K, Chowdhury S, Nahas S, Barea J, Ordonez P, Batalov S, Dimmock D, Kingsmore S; RCIGM Investigators. Hildreth A, et al. Among authors: chowdhury s. Cold Spring Harb Mol Case Stud. 2017 Sep 1;3(5):a001966. doi: 10.1101/mcs.a001966. Print 2017 Sep. Cold Spring Harb Mol Case Stud. 2017. PMID: 28550066 Free PMC article.
The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections.
Sweeney NM, Nahas SA, Chowdhury S, Campo MD, Jones MC, Dimmock DP, Kingsmore SF; RCIGM Investigators. Sweeney NM, et al. Among authors: chowdhury s. Cold Spring Harb Mol Case Stud. 2018 Jun 1;4(3):a002469. doi: 10.1101/mcs.a002469. Print 2018 Jun. Cold Spring Harb Mol Case Stud. 2018. PMID: 29549119 Free PMC article.
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization.
Farnaes L, Hildreth A, Sweeney NM, Clark MM, Chowdhury S, Nahas S, Cakici JA, Benson W, Kaplan RH, Kronick R, Bainbridge MN, Friedman J, Gold JJ, Ding Y, Veeraraghavan N, Dimmock D, Kingsmore SF. Farnaes L, et al. Among authors: chowdhury s. NPJ Genom Med. 2018 Apr 4;3:10. doi: 10.1038/s41525-018-0049-4. eCollection 2018. NPJ Genom Med. 2018. PMID: 29644095 Free PMC article.
Heterozygous WNT1 variant causing a variable bone phenotype.
Alhamdi S, Lee YC, Chowdhury S, Byers PH, Gottschalk M, Taft RJ, Joeng KS, Lee BH, Bird LM. Alhamdi S, et al. Among authors: chowdhury s. Am J Med Genet A. 2018 Nov;176(11):2419-2424. doi: 10.1002/ajmg.a.40347. Epub 2018 Sep 24. Am J Med Genet A. 2018. PMID: 30246918 Free PMC article.
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease.
Gross AM, Ajay SS, Rajan V, Brown C, Bluske K, Burns NJ, Chawla A, Coffey AJ, Malhotra A, Scocchia A, Thorpe E, Dzidic N, Hovanes K, Sahoo T, Dolzhenko E, Lajoie B, Khouzam A, Chowdhury S, Belmont J, Roller E, Ivakhno S, Tanner S, McEachern J, Hambuch T, Eberle M, Hagelstrom RT, Bentley DR, Perry DL, Taft RJ. Gross AM, et al. Among authors: chowdhury s. Genet Med. 2019 May;21(5):1121-1130. doi: 10.1038/s41436-018-0295-y. Epub 2018 Oct 8. Genet Med. 2019. PMID: 30293986 Free PMC article.
3,769 results