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Items: 1 to 50 of 90

1.

RADIATION DOSE ESTIMATION BY COMPLETELY AUTOMATED INTERPRETATION OF THE DICENTRIC CHROMOSOME ASSAY.

Li Y, Shirley BC, Wilkins RC, Norton F, Knoll JHM, Rogan PK.

Radiat Prot Dosimetry. 2019 Jan 9. doi: 10.1093/rpd/ncy282. [Epub ahead of print]

PMID:
30624749
2.

Whole-Gene Duplication of PCSK9 as a Novel Genetic Mechanism for Severe Familial Hypercholesterolemia.

Iacocca MA, Wang J, Sarkar S, Dron JS, Lagace T, McIntyre AD, Lau P, Robinson JF, Yang P, Knoll JH, Cao H, McPherson R, Hegele RA.

Can J Cardiol. 2018 Oct;34(10):1316-1324. doi: 10.1016/j.cjca.2018.07.479. Epub 2018 Aug 4.

3.

Accurate cytogenetic biodosimetry through automated dicentric chromosome curation and metaphase cell selection.

Liu J, Li Y, Wilkins R, Flegal F, Knoll JHM, Rogan PK.

F1000Res. 2017 Aug 9;6:1396. doi: 10.12688/f1000research.12226.1. eCollection 2017.

4.

Expedited Radiation Biodosimetry by Automated Dicentric Chromosome Identification (ADCI) and Dose Estimation.

Shirley B, Li Y, Knoll JHM, Rogan PK.

J Vis Exp. 2017 Sep 4;(127). doi: 10.3791/56245.

5.

Radiation Dose Estimation by Automated Cytogenetic Biodosimetry.

Rogan PK, Li Y, Wilkins RC, Flegal FN, Knoll JH.

Radiat Prot Dosimetry. 2016 Dec;172(1-3):207-217. doi: 10.1093/rpd/ncw161. Epub 2016 Jul 13.

PMID:
27412514
6.

Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis.

Schenkel LC, Kerkhof J, Stuart A, Reilly J, Eng B, Woodside C, Levstik A, Howlett CJ, Rupar AC, Knoll JHM, Ainsworth P, Waye JS, Sadikovic B.

J Mol Diagn. 2016 Sep;18(5):657-667. doi: 10.1016/j.jmoldx.2016.04.002. Epub 2016 Jul 2.

PMID:
27376475
7.

A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.

Mucaki EJ, Caminsky NG, Perri AM, Lu R, Laederach A, Halvorsen M, Knoll JH, Rogan PK.

BMC Med Genomics. 2016 Apr 11;9:19. doi: 10.1186/s12920-016-0178-5.

8.

Automated discrimination of dicentric and monocentric chromosomes by machine learning-based image processing.

Li Y, Knoll JH, Wilkins RC, Flegal FN, Rogan PK.

Microsc Res Tech. 2016 May;79(5):393-402. doi: 10.1002/jemt.22642. Epub 2016 Mar 1.

PMID:
26929213
9.

Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.

Caminsky NG, Mucaki EJ, Perri AM, Lu R, Knoll JH, Rogan PK.

Hum Mutat. 2016 Jul;37(7):640-52. doi: 10.1002/humu.22972. Epub 2016 Mar 18.

PMID:
26898890
10.

Genomic signatures for paclitaxel and gemcitabine resistance in breast cancer derived by machine learning.

Dorman SN, Baranova K, Knoll JH, Urquhart BL, Mariani G, Carcangiu ML, Rogan PK.

Mol Oncol. 2016 Jan;10(1):85-100. doi: 10.1016/j.molonc.2015.07.006. Epub 2015 Aug 22.

11.

Reversing chromatin accessibility differences that distinguish homologous mitotic metaphase chromosomes.

Khan WA, Rogan PK, Knoll JH.

Mol Cytogenet. 2015 Aug 13;8:65. doi: 10.1186/s13039-015-0159-y. eCollection 2015.

12.

Localized, non-random differences in chromatin accessibility between homologous metaphase chromosomes.

Khan WA, Rogan PK, Knoll JH.

Mol Cytogenet. 2014 Nov 19;7(1):70. doi: 10.1186/s13039-014-0070-y. eCollection 2014.

13.

Canadian anaplastic lymphoma kinase study: a model for multicenter standardization and optimization of ALK testing in lung cancer.

Cutz JC, Craddock KJ, Torlakovic E, Brandao G, Carter RF, Bigras G, Deschenes J, Izevbaye I, Xu Z, Greer W, Yatabe Y, Ionescu D, Karsan A, Jung S, Fraser RS, Blumenkrantz M, Lavoie J, Fortin F, Bojarski A, Côté GB, van den Berghe JA, Rashid-Kolvear F, Trotter M, Sekhon HS, Albadine R, Tran-Thanh D, Gorska I, Knoll JH, Xu J, Blencowe B, Iafrate AJ, Hwang DM, Pintilie M, Gaspo R, Couture C, Tsao MS.

J Thorac Oncol. 2014 Sep;9(9):1255-63. doi: 10.1097/JTO.0000000000000239.

14.

Automating dicentric chromosome detection from cytogenetic biodosimetry data.

Rogan PK, Li Y, Wickramasinghe A, Subasinghe A, Caminsky N, Khan W, Samarabandu J, Wilkins R, Flegal F, Knoll JH.

Radiat Prot Dosimetry. 2014 Jun;159(1-4):95-104. doi: 10.1093/rpd/ncu133. Epub 2014 Apr 21.

15.

Relating centromeric topography in fixed human chromosomes to α-satellite DNA and CENP-B distribution.

Khan WA, Chisholm R, Tadayyon S, Subasinghe A, Norton P, Samarabandu J, Johnston LJ, Knoll JH, Rogan PK.

Cytogenet Genome Res. 2013;139(4):234-42. doi: 10.1159/000348744. Epub 2013 Mar 23.

PMID:
23548580
16.

Intensity integrated Laplacian-based thickness measurement for detecting human metaphase chromosome centromere location.

Arachchige AS, Samarabandu J, Knoll JH, Rogan PK.

IEEE Trans Biomed Eng. 2013 Jul;60(7):2005-13. doi: 10.1109/TBME.2013.2248008. Epub 2013 Feb 20.

PMID:
23434602
17.

Expanding probe repertoire and improving reproducibility in human genomic hybridization.

Dorman SN, Shirley BC, Knoll JH, Rogan PK.

Nucleic Acids Res. 2013 Apr;41(7):e81. doi: 10.1093/nar/gkt048. Epub 2013 Feb 1.

18.

Structural and genic characterization of stable genomic regions in breast cancer: relevance to chemotherapy.

Park NI, Rogan PK, Tarnowski HE, Knoll JH.

Mol Oncol. 2012 Jun;6(3):347-59. doi: 10.1016/j.molonc.2012.01.001. Epub 2012 Jan 15.

19.

Context-based FISH localization of genomic rearrangements within chromosome 15q11.2q13 duplicons.

Khan WA, Knoll JH, Rogan PK.

Mol Cytogenet. 2011 Aug 8;4(1):15. doi: 10.1186/1755-8166-4-15.

20.

In situ hybridization to metaphase chromosomes and interphase nuclei.

Knoll JH, Lichter P.

Curr Protoc Hum Genet. 2005 May;Chapter 4:Unit 4.3. doi: 10.1002/0471142905.hg0403s45.

PMID:
18428378
21.

In situ hybridization and detection using nonisotopic probes.

Knoll JH, Lichter P, Bakdounes K, Eltoum IE.

Curr Protoc Mol Biol. 2007 Jul;Chapter 14:Unit 14.7. doi: 10.1002/0471142727.mb1407s79.

PMID:
18265392
22.

Human metaphase chromosome FISH using quantum dot conjugates.

Knoll JH.

Methods Mol Biol. 2007;374:55-66.

PMID:
17237529
23.

Determination of genomic copy number with quantitative microsphere hybridization.

Newkirk HL, Rogan PK, Miralles M, Knoll JH.

Hum Mutat. 2006 Apr;27(4):376-86. Erratum in: Hum Mutat. 2006 Jun;27(6):597.

PMID:
16541397
24.

Angelman syndrome 2005: updated consensus for diagnostic criteria.

Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, Magenis RE, Moncla A, Schinzel AA, Summers JA, Wagstaff J.

Am J Med Genet A. 2006 Mar 1;140(5):413-8.

PMID:
16470747
25.

A 9-year-old male with a duplication of chromosome 3p25.3p26.2: clinical report and gene expression analysis.

Bittel DC, Kibiryeva N, Dasouki M, Knoll JH, Butler MG.

Am J Med Genet A. 2006 Mar 15;140(6):573-9.

26.

Dendrimer FISH detection of single-copy intervals in acute promyelocytic leukemia.

Mora JR, Knoll JH, Rogan PK, Getts RC, Wilson GS.

Mol Cell Probes. 2006 Apr;20(2):114-20. Epub 2006 Feb 7.

PMID:
16460913
27.
28.

Fish versus aCGH.

Rogan PK, Knoll JH.

MLO Med Lab Obs. 2005 May;37(5):8; author reply 8, 12. No abstract available.

PMID:
15960187
29.
30.
31.

Sequence-based, in situ detection of chromosomal abnormalities at high resolution.

Knoll JH, Rogan PK.

Am J Med Genet A. 2003 Sep 1;121A(3):245-57.

PMID:
12923866
32.

Disputed maternity leading to identification of tetragametic chimerism.

Yu N, Kruskall MS, Yunis JJ, Knoll JH, Uhl L, Alosco S, Ohashi M, Clavijo O, Husain Z, Yunis EJ, Yunis JJ, Yunis EJ.

N Engl J Med. 2002 May 16;346(20):1545-52. No abstract available.

33.
34.

Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: effects of imprinting.

Ming JE, Blagowidow N, Knoll JH, Rollings L, Fortina P, McDonald-McGinn DM, Spinner NB, Zackai EH.

Am J Med Genet. 2000 May 1;92(1):19-24.

PMID:
10797418
35.

Clinical findings in a patient mosaic for a supernumerary ring chromosome 20.

Austin-Ward ED, Castillo S, Dragnic Y, Sanz P, Salazar S, Knoll JH.

Am J Med Genet. 2000 Mar 20;91(3):171-4.

PMID:
10756336
36.

Inhibition of telomerase limits the growth of human cancer cells.

Hahn WC, Stewart SA, Brooks MW, York SG, Eaton E, Kurachi A, Beijersbergen RL, Knoll JH, Meyerson M, Weinberg RA.

Nat Med. 1999 Oct;5(10):1164-70.

PMID:
10502820
37.
38.

Relaxation of imprinting in Prader-Willi syndrome.

Rogan PK, Seip JR, White LM, Wenger SL, Steele MW, Sperling MA, Menon R, Knoll JH.

Hum Genet. 1998 Dec;103(6):694-701.

PMID:
9921905
39.

Activation of the Lbc Rho exchange factor proto-oncogene by truncation of an extended C terminus that regulates transformation and targeting.

Sterpetti P, Hack AA, Bashar MP, Park B, Cheng SD, Knoll JH, Urano T, Feig LA, Toksoz D.

Mol Cell Biol. 1999 Feb;19(2):1334-45. Erratum in: Mol Cell Biol 1999 May;19(5):3930.

40.

Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization.

Repetto GM, White LM, Bader PJ, Johnson D, Knoll JH.

Am J Med Genet. 1998 Sep 1;79(2):82-9.

PMID:
9741464
41.

Physical and linkage mapping of the gene for the alpha3 chain of type IX collagen, COL9A3, to human chromosome 20q13.3.

Tiller GE, Warman ML, Gong Y, Knoll JH, Mayne R, Brewton RG.

Cytogenet Cell Genet. 1998;81(3-4):205-7.

PMID:
9730604
42.

Chromosomal abnormalities in nodal and extranodal CD30+ anaplastic large cell lymphomas: infrequent detection of the t(2;5) in extranodal lymphomas.

Ott G, Katzenberger T, Siebert R, DeCoteau JF, Fletcher JA, Knoll JH, Kalla J, Rosenwald A, Ott MM, Weber-Matthiesen K, Kadin ME, Müller-Hermelink HK.

Genes Chromosomes Cancer. 1998 Jun;22(2):114-21.

PMID:
9598798
43.

Complex familial rearrangement of chromosome 9p24.3 detected by FISH.

Repetto GM, Wagstaff J, Korf BR, Knoll JH.

Am J Med Genet. 1998 Apr 1;76(4):306-9.

PMID:
9545094
44.

Exclusion of uniparental inheritance of chromosome 15 in a fetus with a familial dicentric (Y;15) translocation.

White LM, Treat K, Leff A, Styers D, Mitchell M, Knoll JH.

Prenat Diagn. 1998 Feb;18(2):111-6.

PMID:
9516010
45.

Limatin (LIMAB1), an actin-binding LIM protein, maps to mouse chromosome 19 and human chromosome 10q25, a region frequently deleted in human cancers.

Kim AC, Peters LL, Knoll JH, Van Huffel C, Ciciotte SL, Kleyn PW, Chishti AH.

Genomics. 1997 Dec 1;46(2):291-3.

PMID:
9417918
46.

Molecular characterization and localization of the human MAFG gene.

Blank V, Knoll JH, Andrews NC.

Genomics. 1997 Aug 15;44(1):147-9.

PMID:
9286713
47.
48.

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia.

Mundlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, Albright S, Lindhout D, Cole WG, Henn W, Knoll JH, Owen MJ, Mertelsmann R, Zabel BU, Olsen BR.

Cell. 1997 May 30;89(5):773-9.

49.

A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1.

Engle EC, Castro AE, Macy ME, Knoll JH, Beggs AH.

Am J Hum Genet. 1997 May;60(5):1150-7.

50.

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