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Items: 19

1.

Detection of a cryptic NUP214/ABL1 gene fusion by mate-pair sequencing (MPseq) in a newly diagnosed case of pediatric T-lymphoblastic leukemia.

Peterson JF, Pitel BA, Smoley SA, Smadbeck JB, Johnson SH, Vasmatzis G, Koon SJ, Webley MR, McGrath M, Bayerl MG, Baughn LB, Rowsey RA, Ketterling RP, Greipp PT, Hoppman NL.

Cold Spring Harb Mol Case Stud. 2019 Apr 1;5(2). pii: a003533. doi: 10.1101/mcs.a003533. Print 2019 Apr.

2.

A near-haploid clone harboring a BCR/ABL1 gene fusion in an adult patient with newly diagnosed B-lymphoblastic leukemia.

Peterson JF, Ketterling RP, Huang L, Finn LE, Shi M, Hoppman NL, Greipp PT, Baughn LB.

Genes Chromosomes Cancer. 2019 Sep;58(9):665-668. doi: 10.1002/gcc.22744. Epub 2019 Mar 18.

PMID:
30790375
3.

Acute leukemias harboring KMT2A/MLLT10 fusion: a 10-year experience from a single genomics laboratory.

Peterson JF, Sukov WR, Pitel BA, Smoley SA, Pearce KE, Meyer RG, Williamson CM, Smadbeck JB, Vasmatzis G, Hoppman NL, Greipp PT, Baughn LB, Ketterling RP.

Genes Chromosomes Cancer. 2019 Aug;58(8):567-577. doi: 10.1002/gcc.22741. Epub 2019 Mar 19.

PMID:
30707474
4.

False-negative rates for MYC fluorescence in situ hybridization probes in B-cell neoplasms.

King RL, McPhail ED, Meyer RG, Vasmatzis G, Pearce K, Smadbeck JB, Ketterling RP, Smoley SA, Greipp PT, Hoppman NL, Peterson JF, Baughn LB.

Haematologica. 2019 Jun;104(6):e248-e251. doi: 10.3324/haematol.2018.207290. Epub 2018 Dec 6. No abstract available.

5.

Constitutional chromosome rearrangements that mimic the 2017 world health organization "acute myeloid leukemia with recurrent genetic abnormalities": A study of three cases and review of the literature.

Peterson JF, Pitel BA, Smoley SA, Smadbeck JB, Johnson SH, Vasmatzis G, Pearce KE, He R, Kelemen K, Al-Mondhiry HAB, Lamparella NE, Hoppman NL, Kearney HM, Baughn LB, Ketterling RP, Greipp PT.

Cancer Genet. 2019 Jan;230:37-46. doi: 10.1016/j.cancergen.2018.11.005. Epub 2018 Nov 20. Review.

PMID:
30497985
6.

Mate pair sequencing improves detection of genomic abnormalities in acute myeloid leukemia.

Aypar U, Smoley SA, Pitel BA, Pearce KE, Zenka RM, Vasmatzis G, Johnson SH, Smadbeck JB, Peterson JF, Geiersbach KB, Van Dyke DL, Thorland EC, Jenkins RB, Ketterling RP, Greipp PT, Kearney HM, Hoppman NL, Baughn LB.

Eur J Haematol. 2019 Jan;102(1):87-96. doi: 10.1111/ejh.13179. Epub 2018 Nov 22.

PMID:
30270457
7.

Use of mate-pair sequencing to characterize a complex cryptic BCR/ABL1 rearrangement observed in a newly diagnosed case of chronic myeloid leukemia.

Peterson JF, Pitel BA, Smoley SA, Smadbeck JB, Johnson SH, Vasmatzis G, Kearney HM, Greipp PT, Hoppman NL, Baughn LB, Ketterling RP.

Hum Pathol. 2018 Sep 26. pii: S0046-8177(18)30372-1. doi: 10.1016/j.humpath.2018.09.010. [Epub ahead of print]

PMID:
30267776
8.

The Utilization of Chromosomal Microarray Technologies for Hematologic Neoplasms: An ACLPS Critical Review.

Peterson JF, Van Dyke DL, Hoppman NL, Kearney HM, Sukov WR, Greipp PT, Ketterling RP, Baughn LB.

Am J Clin Pathol. 2018 Oct 1;150(5):375-384. doi: 10.1093/ajcp/aqy076. Review.

PMID:
30052716
9.

Cryptic ETV6-PDGFRB fusion in a highly complex rearrangement of chromosomes 1, 5, and 12 due to a chromothripsis-like event in a myelodysplastic syndrome/myeloproliferative neoplasm.

Singh ZN, Richards S, El Chaer F, Duong VH, Gudipati MA, Waters EO, Koon S, Webley M, Pitel B, Hoppman NL, Baer MR, Zou YS.

Leuk Lymphoma. 2019 May;60(5):1304-1307. doi: 10.1080/10428194.2018.1480774. Epub 2018 Jul 11. No abstract available.

PMID:
29992858
10.

Improving Single-Nucleotide Polymorphism-Based Fetal Fraction Estimation of Maternal Plasma Circulating Cell-Free DNA Using Bayesian Hierarchical Models.

Larson NB, Wang C, Na J, Rowsey RA, Highsmith WE, Hoppman NL, Kocher JP, Klee EW.

J Comput Biol. 2018 Sep;25(9):1040-1049. doi: 10.1089/cmb.2018.0056. Epub 2018 Jun 22.

PMID:
29932737
11.

Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect?

Polonis K, Blackburn PR, Urrutia RA, Lomberk GA, Kruisselbrink T, Cousin MA, Boczek NJ, Hoppman NL, Babovic-Vuksanovic D, Klee EW, Pichurin PN.

Cold Spring Harb Mol Case Stud. 2018 Aug 1;4(4). pii: a002899. doi: 10.1101/mcs.a002899. Print 2018 Aug.

12.

SVAtools for junction detection of genome-wide chromosomal rearrangements by mate-pair sequencing (MPseq).

Johnson SH, Smadbeck JB, Smoley SA, Gaitatzes A, Murphy SJ, Harris FR, Drucker TM, Zenka RM, Pitel BA, Rowsey RA, Hoppman NL, Aypar U, Sukov WR, Jenkins RB, Feldman AL, Kearney HM, Vasmatzis G.

Cancer Genet. 2018 Feb;221:1-18. doi: 10.1016/j.cancergen.2017.11.009. Epub 2017 Dec 2.

PMID:
29405991
13.

Novel t(5;11)(q32;q13.4) with NUMA1-PDGFRB fusion in a myeloid neoplasm with eosinophilia with response to imatinib mesylate.

Zou YS, Hoppman NL, Singh ZN, Sawhney S, Kotiah SD, Baer MR.

Cancer Genet. 2017 Apr;212-213:38-44. doi: 10.1016/j.cancergen.2017.03.004. Epub 2017 Mar 27.

PMID:
28449810
14.

De novo 11q deletion including SHANK2 in a patient with global developmental delay.

Marcou CA, Studinski Jones AL, Murphree MI, Kirmani S, Hoppman NL.

Am J Med Genet A. 2017 Mar;173(3):801-805. doi: 10.1002/ajmg.a.38075. No abstract available.

PMID:
28211979
15.

Two cases with de novo 3q26.31 microdeletion suggest a role for FNDC3B in human craniofacial development.

Cao Y, Mitchell EB, Gorski JL, Hollinger C, Hoppman NL.

Am J Med Genet A. 2016 Dec;170(12):3276-3281. doi: 10.1002/ajmg.a.37892. Epub 2016 Aug 19.

PMID:
27541078
16.

Patients with mosaic methylation patterns of the Prader-Willi/Angelman Syndrome critical region exhibit AS-like phenotypes with some PWS features.

Aypar U, Hoppman NL, Thorland EC, Dawson DB.

Mol Cytogenet. 2016 Mar 22;9:26. doi: 10.1186/s13039-016-0233-0. eCollection 2016.

17.

False Negative Cell-Free DNA Screening Result in a Newborn with Trisomy 13.

Cao Y, Hoppman NL, Kerr SE, Sattler CA, Borowski KS, Wick MJ, Highsmith WE, Aypar U.

Case Rep Genet. 2016;2016:7397405. doi: 10.1155/2016/7397405. Epub 2016 Feb 22.

18.

CNKSR2 deletions: a novel cause of X-linked intellectual disability and seizures.

Aypar U, Wirrell EC, Hoppman NL.

Am J Med Genet A. 2015 Jul;167(7):1668-70. doi: 10.1002/ajmg.a.36902. Epub 2015 Mar 5. No abstract available.

PMID:
25754917
19.

Sensitive phenotypic detection of minor drug-resistant human immunodeficiency virus type 1 reverse transcriptase variants.

Nissley DV, Halvas EK, Hoppman NL, Garfinkel DJ, Mellors JW, Strathern JN.

J Clin Microbiol. 2005 Nov;43(11):5696-704.

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