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Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Miller CR, Lee K, Pfau RB, Reshmi SC, Corsmeier DJ, Hashimoto S, Dave-Wala A, Jayaraman V, Koboldt D, Matthews T, Mouhlas D, Stein M, McKinney A, Grossman T, Kelly BJ, White P, Magrini V, Wilson RK, Mardis ER, Cottrell CE. Miller CR, et al. Among authors: pfau rb. Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a005231. doi: 10.1101/mcs.a005231. Print 2020 Jun. Cold Spring Harb Mol Case Stud. 2020. PMID: 32371413 Free PMC article.
A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties.
Mathew MT, Antoniou A, Ramesh N, Hu M, Gaither J, Mouhlas D, Hashimoto S, Humphrey M, Matthews T, Hunter JM, Reshmi S, Schultz M, Lee K, Pfau R, Cottrell C, McBride KL, Navin NE, Chaudhari BP, Leung ML. Mathew MT, et al. J Mol Diagn. 2022 Sep;24(9):1031-1040. doi: 10.1016/j.jmoldx.2022.06.001. Epub 2022 Jun 16. J Mol Diagn. 2022. PMID: 35718094 Free article.
Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.
Melas M, Kautto EA, Franklin SJ, Mori M, McBride KL, Mosher TM, Pfau RB, Hernandez-Gonzalez ME, McGrath SD, Magrini VJ, White P, Samora JB, Koboldt DC, Wilson RK. Melas M, et al. Among authors: pfau rb. Hum Mutat. 2022 Feb;43(2):189-199. doi: 10.1002/humu.24304. Epub 2021 Dec 16. Hum Mutat. 2022. PMID: 34859533
Genetic Characterization of Pediatric Sarcomas by Targeted RNA Sequencing.
Avenarius MR, Miller CR, Arnold MA, Koo S, Roberts R, Hobby M, Grossman T, Moyer Y, Wilson RK, Mardis ER, Gastier-Foster JM, Pfau RB. Avenarius MR, et al. Among authors: pfau rb. J Mol Diagn. 2020 Oct;22(10):1238-1245. doi: 10.1016/j.jmoldx.2020.07.004. Epub 2020 Aug 1. J Mol Diagn. 2020. PMID: 32745614 Free PMC article.
Clinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependymomas.
Shatara M, Schieffer KM, Klawinski D, Thomas DL, Pierson CR, Sribnick EA, Jones J, Rodriguez DP, Deeg C, Hamelberg E, LaHaye S, Miller KE, Fitch J, Kelly B, Leraas K, Pfau R, White P, Magrini V, Wilson RK, Mardis ER, Abdelbaki MS, Finlay JL, Boué DR, Cottrell CE, Ghasemi DR, Pajtler KW, Osorio DS. Shatara M, et al. Acta Neuropathol Commun. 2021 Dec 11;9(1):192. doi: 10.1186/s40478-021-01296-2. Acta Neuropathol Commun. 2021. PMID: 34895332 Free PMC article.
5' ALK Amplification in Neuroblastoma: A Case Report.
Akhavanfard S, Nohr E, AlNajjar M, Haughn M, Hashimoto S, Deeg C, Pfau R, Brundler MA, Reshmi SC. Akhavanfard S, et al. Case Rep Oncol. 2021 Mar 23;14(1):585-591. doi: 10.1159/000512187. eCollection 2021 Jan-Apr. Case Rep Oncol. 2021. PMID: 33976638 Free PMC article.
21 results