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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2007 1
2011 2
2012 1
2013 1
2014 2
2016 1
2017 2
2018 6
2019 6
2020 7
2021 11
2022 4
2023 6
2024 1

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47 results

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Page 1
Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome.
Baghdassarian H, Blackstone SA, Clay OS, Philips R, Matthiasardottir B, Nehrebecky M, Hua VK, McVicar R, Liu Y, Tucker SM, Randazzo D, Deuitch N, Rosenzweig S, Mark A, Sasik R, Fisch KM, Pimpale Chavan P, Eren E, Watts NR, Ma CA, Gadina M, Schwartz DM, Sanyal A, Werner G, Murdock DR, Horita N, Chowdhury S, Dimmock D, Jepsen K, Remmers EF, Goldbach-Mansky R, Gahl WA, O'Shea JJ, Milner JD, Lewis NE, Chang J, Kastner DL, Torok K, Oda H, Putnam CD, Broderick L. Baghdassarian H, et al. Among authors: chowdhury s. N Engl J Med. 2023 Jun 15;388(24):2241-2252. doi: 10.1056/NEJMoa2202318. Epub 2023 May 31. N Engl J Med. 2023. PMID: 37256972 Free PMC article.
Best practices for the interpretation and reporting of clinical whole genome sequencing.
Austin-Tse CA, Jobanputra V, Perry DL, Bick D, Taft RJ, Venner E, Gibbs RA, Young T, Barnett S, Belmont JW, Boczek N, Chowdhury S, Ellsworth KA, Guha S, Kulkarni S, Marcou C, Meng L, Murdock DR, Rehman AU, Spiteri E, Thomas-Wilson A, Kearney HM, Rehm HL; Medical Genome Initiative*. Austin-Tse CA, et al. Among authors: chowdhury s. NPJ Genom Med. 2022 Apr 8;7(1):27. doi: 10.1038/s41525-022-00295-z. NPJ Genom Med. 2022. PMID: 35395838 Free PMC article. Review.
Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing.
Owen MJ, Wright MS, Batalov S, Kwon Y, Ding Y, Chau KK, Chowdhury S, Sweeney NM, Kiernan E, Richardson A, Batton E, Baer RJ, Bandoli G, Gleeson JG, Bainbridge M, Chambers CD, Kingsmore SF. Owen MJ, et al. Among authors: chowdhury s. JAMA Netw Open. 2023 Feb 1;6(2):e2254069. doi: 10.1001/jamanetworkopen.2022.54069. JAMA Netw Open. 2023. PMID: 36757698 Free PMC article.
Epigenomic Blood-Based Early Detection of Pancreatic Cancer Employing Cell-Free DNA.
Haan D, Bergamaschi A, Friedl V, Guler GD, Ning Y, Reggiardo R, Kesling M, Collins M, Gibb B, Hazen K, Bates S, Antoine M, Fraire C, Lopez V, Malta R, Nabiyouni M, Nguyen A, Phillips T, Riviere M, Leighton A, Ellison C, McCarthy E, Scott A, Gigliotti L, Nilson E, Sheard J, Peters M, Bethel K, Chowdhury S, Volkmuth W, Levy S. Haan D, et al. Among authors: chowdhury s. Clin Gastroenterol Hepatol. 2023 Jul;21(7):1802-1809.e6. doi: 10.1016/j.cgh.2023.03.016. Epub 2023 Mar 24. Clin Gastroenterol Hepatol. 2023. PMID: 36967102 Free article.
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.
Marshall CR, Chowdhury S, Taft RJ, Lebo MS, Buchan JG, Harrison SM, Rowsey R, Klee EW, Liu P, Worthey EA, Jobanputra V, Dimmock D, Kearney HM, Bick D, Kulkarni S, Taylor SL, Belmont JW, Stavropoulos DJ, Lennon NJ; Medical Genome Initiative. Marshall CR, et al. Among authors: chowdhury s. NPJ Genom Med. 2020 Oct 23;5:47. doi: 10.1038/s41525-020-00154-9. eCollection 2020. NPJ Genom Med. 2020. PMID: 33110627 Free PMC article. Review.
Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome.
Owen MJ, Niemi AK, Dimmock DP, Speziale M, Nespeca M, Chau KK, Van Der Kraan L, Wright MS, Hansen C, Veeraraghavan N, Ding Y, Lenberg J, Chowdhury S, Hobbs CA, Batalov S, Zhu Z, Nahas SA, Gilmer S, Knight G, Lefebvre S, Reynders J, Defay T, Weir J, Thomson VS, Fraser L, Lajoie BR, McPhail TK, Mehtalia SS, Kunard CM, Hall KP, Kingsmore SF. Owen MJ, et al. Among authors: chowdhury s. N Engl J Med. 2021 Jun 3;384(22):2159-2161. doi: 10.1056/NEJMc2100365. N Engl J Med. 2021. PMID: 34077649 Free PMC article. No abstract available.
Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics.
Palmquist R, Jenkins SM, Bentley D, Miller C, Mao R, Meibos B, Bayrak-Toydemir P, Tvrdik T, Nadauld LD, Bleyl SB, Chowdhury S, Ostrander B, Flores-Daboub J, Longo N, Tristani-Firouzi M, Hobbs C, Bonkowsky JL, Brunelli L. Palmquist R, et al. Among authors: chowdhury s. Pediatr Res. 2022 Nov;92(5):1364-1369. doi: 10.1038/s41390-022-01965-5. Epub 2022 Feb 3. Pediatr Res. 2022. PMID: 35115709 Free PMC article.
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
Owen MJ, Lefebvre S, Hansen C, Kunard CM, Dimmock DP, Smith LD, Scharer G, Mardach R, Willis MJ, Feigenbaum A, Niemi AK, Ding Y, Van Der Kraan L, Ellsworth K, Guidugli L, Lajoie BR, McPhail TK, Mehtalia SS, Chau KK, Kwon YH, Zhu Z, Batalov S, Chowdhury S, Rego S, Perry J, Speziale M, Nespeca M, Wright MS, Reese MG, De La Vega FM, Azure J, Frise E, Rigby CS, White S, Hobbs CA, Gilmer S, Knight G, Oriol A, Lenberg J, Nahas SA, Perofsky K, Kim K, Carroll J, Coufal NG, Sanford E, Wigby K, Weir J, Thomson VS, Fraser L, Lazare SS, Shin YH, Grunenwald H, Lee R, Jones D, Tran D, Gross A, Daigle P, Case A, Lue M, Richardson JA, Reynders J, Defay T, Hall KP, Veeraraghavan N, Kingsmore SF. Owen MJ, et al. Among authors: chowdhury s. Nat Commun. 2022 Jul 26;13(1):4057. doi: 10.1038/s41467-022-31446-6. Nat Commun. 2022. PMID: 35882841 Free PMC article.
47 results