Hoppman NL - Search Results

1

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. Aypar U, et al. Among authors: hoppman nl. Eur J Haematol. 2019 Jan;102(1):87-96. doi: 10.1111/ejh.13179. Epub 2018 Nov 22. Eur J Haematol. 2019. PMID: 30270457 Free PMC article.

2

Chromosomal microarray impacts clinical management.

Riggs ER, Wain KE, Riethmaier D, Smith-Packard B, Faucett WA, Hoppman N, Thorland EC, Patel VC, Miller DT. Riggs ER, et al. Clin Genet. 2014 Feb;85(2):147-53. doi: 10.1111/cge.12107. Epub 2013 Feb 21. Clin Genet. 2014. PMID: 23347240

3

Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3.

Hoppman N, Aypar U, Brodersen P, Brown N, Wilson J, Babovic-Vuksanovic D. Hoppman N, et al. Mol Cytogenet. 2013 May 6;6(1):19. doi: 10.1186/1755-8166-6-19. Mol Cytogenet. 2013. PMID: 23648117 Free PMC article.

4

Prenatal diagnosis of chromosome abnormalities: past, present, and future.

Aypar U, Thorland EC, Hoppman N. Aypar U, et al. Clin Chem. 2013 Oct;59(10):1432-4. doi: 10.1373/clinchem.2013.204149. Epub 2013 Jul 15. Clin Chem. 2013. PMID: 23857674 No abstract available.

5

Does parent of origin matter? Methylation studies should be performed on patients with multiple copies of the Prader-Willi/Angelman syndrome critical region.

Aypar U, Brodersen PR, Lundquist PA, Dawson DB, Thorland EC, Hoppman N. Aypar U, et al. Am J Med Genet A. 2014 Oct;164A(10):2514-20. doi: 10.1002/ajmg.a.36663. Epub 2014 Jun 26. Am J Med Genet A. 2014. PMID: 24975781

6

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

Aypar U, Wirrell EC, Hoppman NL. Aypar U, et al. Among authors: hoppman nl. Am J Med Genet A. 2015 Jul;167(7):1668-70. doi: 10.1002/ajmg.a.36902. Epub 2015 Mar 5. Am J Med Genet A. 2015. PMID: 25754917 No abstract available.

7

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. Cao Y, et al. Among authors: hoppman nl. Case Rep Genet. 2016;2016:7397405. doi: 10.1155/2016/7397405. Epub 2016 Feb 22. Case Rep Genet. 2016. PMID: 26998368 Free PMC article.

8

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. Aypar U, et al. Among authors: hoppman nl. Mol Cytogenet. 2016 Mar 22;9:26. doi: 10.1186/s13039-016-0233-0. eCollection 2016. Mol Cytogenet. 2016. PMID: 27006693 Free PMC article.

9

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. Johnson SH, et al. Among authors: hoppman nl. Cancer Genet. 2018 Feb;221:1-18. doi: 10.1016/j.cancergen.2017.11.009. Epub 2017 Dec 2. Cancer Genet. 2018. PMID: 29405991

10

Patterns of homozygosity in patients with uniparental disomy: detection rate and suggested reporting thresholds for SNP microarrays.

Hoppman N, Rumilla K, Lauer E, Kearney H, Thorland E. Hoppman N, et al. Genet Med. 2018 Dec;20(12):1522-1527. doi: 10.1038/gim.2018.24. Epub 2018 Mar 22. Genet Med. 2018. PMID: 29565418 Free article.

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