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Page 1
Correlation between variant allele frequency and mean tumor molecules with tumor burden in patients with solid tumors.
Kalashnikova E, Aushev VN, Malashevich AK, Tin A, Krinshpun S, Salari R, Scalise CB, Ram R, Malhotra M, Ravi H, Sethi H, Sanchez S, Hagelstrom RT, Brevnov M, Rabinowitz M, Moshkevich S, Zimmermann BG, Liu MC, Aleshin A. Kalashnikova E, et al. Among authors: hagelstrom rt. Mol Oncol. 2023 Dec 1. doi: 10.1002/1878-0261.13557. Online ahead of print. Mol Oncol. 2023. PMID: 38037739 Free article.
Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers.
Mori M, Clause AR, Truxal K, Hagelstrom RT, Manickam K, Kaler SG, Prasad V, Windster J, Alves MM, Di Lorenzo C. Mori M, et al. Among authors: hagelstrom rt. JPGN Rep. 2022 Oct 20;3(4):e258. doi: 10.1097/PG9.0000000000000258. eCollection 2022 Nov. JPGN Rep. 2022. PMID: 37168481 Free PMC article.
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
Ibañez K, Polke J, Hagelstrom RT, Dolzhenko E, Pasko D, Thomas ERA, Daugherty LC, Kasperaviciute D, Smith KR; WGS for Neurological Diseases Group; Deans ZC, Hill S, Fowler T, Scott RH, Hardy J, Chinnery PF, Houlden H, Rendon A, Caulfield MJ, Eberle MA, Taft RJ, Tucci A; Genomics England Research Consortium. Ibañez K, et al. Among authors: hagelstrom rt. Lancet Neurol. 2022 Mar;21(3):234-245. doi: 10.1016/S1474-4422(21)00462-2. Lancet Neurol. 2022. PMID: 35182509 Free PMC article.
Genome sequencing identifies three molecular diagnoses including a mosaic variant in the COL2A1 gene in an individual with Pol III-related leukodystrophy and Feingold syndrome.
Muirhead KJ, Clause AR, Schlachetzki Z, Dubbs H, Perry DL, Hagelstrom RT, Taft RJ, Vanderver A. Muirhead KJ, et al. Among authors: hagelstrom rt. Cold Spring Harb Mol Case Stud. 2021 Dec 9;7(6):a006143. doi: 10.1101/mcs.a006143. Print 2021 Dec. Cold Spring Harb Mol Case Stud. 2021. PMID: 34737199 Free PMC article.
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.
NICUSeq Study Group; Krantz ID, Medne L, Weatherly JM, Wild KT, Biswas S, Devkota B, Hartman T, Brunelli L, Fishler KP, Abdul-Rahman O, Euteneuer JC, Hoover D, Dimmock D, Cleary J, Farnaes L, Knight J, Schwarz AJ, Vargas-Shiraishi OM, Wigby K, Zadeh N, Shinawi M, Wambach JA, Baldridge D, Cole FS, Wegner DJ, Urraca N, Holtrop S, Mostafavi R, Mroczkowski HJ, Pivnick EK, Ward JC, Talati A, Brown CW, Belmont JW, Ortega JL, Robinson KD, Brocklehurst WT, Perry DL, Ajay SS, Hagelstrom RT, Bennett M, Rajan V, Taft RJ. NICUSeq Study Group, et al. Among authors: hagelstrom rt. JAMA Pediatr. 2021 Dec 1;175(12):1218-1226. doi: 10.1001/jamapediatrics.2021.3496. JAMA Pediatr. 2021. PMID: 34570182 Free PMC article. Clinical Trial.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Fai… See abstract for full author list ➔ Radio FC, et al. Among authors: hagelstrom rt. Am J Hum Genet. 2021 Mar 4;108(3):502-516. doi: 10.1016/j.ajhg.2021.01.015. Epub 2021 Feb 16. Am J Hum Genet. 2021. PMID: 33596411 Free PMC article.
Evidence-based review of genomic aberrations in B-lymphoblastic leukemia/lymphoma: Report from the cancer genomics consortium working group for lymphoblastic leukemia.
Akkari YMN, Bruyere H, Hagelstrom RT, Kanagal-Shamanna R, Liu J, Luo M, Mikhail FM, Pitel BA, Raca G, Shago M, Shao L, Smith LR, Smolarek TA, Yenamandra A, Baughn LB. Akkari YMN, et al. Among authors: hagelstrom rt. Cancer Genet. 2020 May;243:52-72. doi: 10.1016/j.cancergen.2020.03.001. Epub 2020 Mar 21. Cancer Genet. 2020. PMID: 32302940 Review.
Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico.
Scocchia A, Wigby KM, Masser-Frye D, Del Campo M, Galarreta CI, Thorpe E, McEachern J, Robinson K, Gross A; ICSL Interpretation and Reporting Team; Ajay SS, Rajan V, Perry DL, Belmont JW, Bentley DR, Jones MC, Taft RJ. Scocchia A, et al. NPJ Genom Med. 2019 Feb 14;4:5. doi: 10.1038/s41525-018-0076-1. eCollection 2019. NPJ Genom Med. 2019. PMID: 30792901 Free PMC article.
21 results