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Items: 1 to 50 of 86

1.

The mutational burden of therapy-related myeloid neoplasms is similar to primary myelodysplastic syndrome but has a distinctive distribution.

Singhal D, Wee LYA, Kutyna MM, Chhetri R, Geoghegan J, Schreiber AW, Feng J, Wang PP, Babic M, Parker WT, Hiwase S, Edwards S, Moore S, Branford S, Kuzmanovic T, Singhal N, Gowda R, Brown AL, Arts P, To LB, Bardy PG, Lewis ID, D'Andrea RJ, Maciejewski JP, Scott HS, Hahn CN, Hiwase DK.

Leukemia. 2019 May 14. doi: 10.1038/s41375-019-0479-8. [Epub ahead of print]

PMID:
31089247
2.

Genomic subtyping and therapeutic targeting of acute erythroleukemia.

Iacobucci I, Wen J, Meggendorfer M, Choi JK, Shi L, Pounds SB, Carmichael CL, Masih KE, Morris SM, Lindsley RC, Janke LJ, Alexander TB, Song G, Qu C, Li Y, Payne-Turner D, Tomizawa D, Kiyokawa N, Valentine M, Valentine V, Basso G, Locatelli F, Enemark EJ, Kham SKY, Yeoh AEJ, Ma X, Zhou X, Sioson E, Rusch M, Ries RE, Stieglitz E, Hunger SP, Wei AH, To LB, Lewis ID, D'Andrea RJ, Kile BT, Brown AL, Scott HS, Hahn CN, Marlton P, Pei D, Cheng C, Loh ML, Ebert BL, Meshinchi S, Haferlach T, Mullighan CG.

Nat Genet. 2019 Apr;51(4):694-704. doi: 10.1038/s41588-019-0375-1. Epub 2019 Mar 29.

PMID:
30926971
3.

A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia.

Cheah JJC, Brown AL, Schreiber AW, Feng J, Babic M, Moore S, Young CC, Fine M, Phillips K, Guandalini M, Wilson P, Poplawski N, Hahn CN, Scott HS.

Haematologica. 2019 Jul;104(7):e318-e321. doi: 10.3324/haematol.2018.207316. Epub 2019 Mar 28. No abstract available.

4.

Veterinary neurology.

Hahn CN.

Pract Neurol. 2018 Aug;18(4):339-343. doi: 10.1136/practneurol-2018-001883. Epub 2018 Apr 25. No abstract available.

PMID:
29695601
5.

ARMC5 is not implicated in familial hyperaldosteronism type II (FH-II).

De Sousa SMC, Stowasser M, Feng J, Schreiber AW, Wang P, Hahn CN, Gordon RD, Torpy DJ, Scott HS, Gagliardi L.

J Hum Hypertens. 2017 Dec;31(12):857-859. doi: 10.1038/jhh.2017.71. Epub 2017 Oct 12. No abstract available.

PMID:
29022889
6.

Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan anemia patient.

Venugopal P, Moore S, Lawrence DM, George AJ, Hannan RD, Bray SC, To LB, D'Andrea RJ, Feng J, Tirimacco A, Yeoman AL, Young CC, Fine M, Schreiber AW, Hahn CN, Barnett C, Saxon B, Scott HS.

Haematologica. 2017 Dec;102(12):e506-e509. doi: 10.3324/haematol.2017.166678. Epub 2017 Sep 29. No abstract available.

7.

A Method for Next-Generation Sequencing of Paired Diagnostic and Remission Samples to Detect Mitochondrial DNA Mutations Associated with Leukemia.

Pagani IS, Kok CH, Saunders VA, Van der Hoek MB, Heatley SL, Schwarer AP, Hahn CN, Hughes TP, White DL, Ross DM.

J Mol Diagn. 2017 Sep;19(5):711-721. doi: 10.1016/j.jmoldx.2017.05.009. Epub 2017 Jul 18.

PMID:
28732215
8.

Clinical implications of transient myeloproliferative disorder in a neonate without Down syndrome features.

Carruthers V, Nicola M, Venugopal P, Hahn CN, Scott HS, Revesz T.

J Paediatr Child Health. 2017 Oct;53(10):1018-1020. doi: 10.1111/jpc.13628. Epub 2017 Jul 4. No abstract available.

PMID:
28675575
9.

Differential effects on gene transcription and hematopoietic differentiation correlate with GATA2 mutant disease phenotypes.

Chong CE, Venugopal P, Stokes PH, Lee YK, Brautigan PJ, Yeung DTO, Babic M, Engler GA, Lane SW, Klingler-Hoffmann M, Matthews JM, D'Andrea RJ, Brown AL, Hahn CN, Scott HS.

Leukemia. 2018 Jan;32(1):194-202. doi: 10.1038/leu.2017.196. Epub 2017 Jun 23.

10.

A novel, somatic, transforming mutation in the extracellular domain of Epidermal Growth Factor Receptor identified in myeloproliferative neoplasm.

Casolari DA, Nguyen T, Butcher CM, Iarossi DG, Hahn CN, Bray SC, Neufing P, Parker WT, Feng J, Maung KZY, Wee A, Vidovic L, Kok CH, Bardy PG, Branford S, Lewis ID, Lane SW, Scott HS, Ross DM, D'Andrea RJ.

Sci Rep. 2017 May 26;7(1):2467. doi: 10.1038/s41598-017-02655-7.

11.

Myeloid neoplasms with germline DDX41 mutation.

Cheah JJC, Hahn CN, Hiwase DK, Scott HS, Brown AL.

Int J Hematol. 2017 Aug;106(2):163-174. doi: 10.1007/s12185-017-2260-y. Epub 2017 May 25. Review.

PMID:
28547672
12.

T cell receptor assessment in autoimmune disease requires access to the most adjacent immunologically active organ.

Oftedal BE, Ardesjö Lundgren B, Hamm D, Gan PY, Holdsworth SR, Hahn CN, Schreiber AW, Scott HS.

J Autoimmun. 2017 Jul;81:24-33. doi: 10.1016/j.jaut.2017.03.002. Epub 2017 Mar 18.

13.

Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.

Barnett CP, Nataren NJ, Klingler-Hoffmann M, Schwarz Q, Chong CE, Lee YK, Bruno DL, Lipsett J, McPhee AJ, Schreiber AW, Feng J, Hahn CN, Scott HS.

Hum Mutat. 2016 Sep;37(9):955-63. doi: 10.1002/humu.23032. Epub 2016 Jul 11.

PMID:
27323706
14.

Apparent 'JAK2-negative' polycythaemia vera due to compound mutations in exon 14.

Tiong IS, Casolari DA, Moore S, Nguyen T, Van Velzen MJM, Zantomio D, Scott HS, D'Andrea RJ, Hahn CN, Ross DM.

Br J Haematol. 2017 Jul;178(2):333-336. doi: 10.1111/bjh.14126. Epub 2016 May 2. No abstract available.

PMID:
27136492
15.

In depth analysis of the Sox4 gene locus that consists of sense and natural antisense transcripts.

Ling KH, Brautigan PJ, Moore S, Fraser R, Leong MP, Leong JW, Zainal Abidin S, Lee HC, Cheah PS, Raison JM, Babic M, Lee YK, Daish T, Mattiske DM, Mann JR, Adelson DL, Thomas PQ, Hahn CN, Scott HS.

Data Brief. 2016 Feb 17;7:282-90. doi: 10.1016/j.dib.2016.01.045. eCollection 2016 Jun.

16.

Derivation of an endogenous small RNA from double-stranded Sox4 sense and natural antisense transcripts in the mouse brain.

Ling KH, Brautigan PJ, Moore S, Fraser R, Cheah PS, Raison JM, Babic M, Lee YK, Daish T, Mattiske DM, Mann JR, Adelson DL, Thomas PQ, Hahn CN, Scott HS.

Genomics. 2016 Mar;107(2-3):88-99. doi: 10.1016/j.ygeno.2016.01.006. Epub 2016 Jan 21.

17.

Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.

Lewinsohn M, Brown AL, Weinel LM, Phung C, Rafidi G, Lee MK, Schreiber AW, Feng J, Babic M, Chong CE, Lee Y, Yong A, Suthers GK, Poplawski N, Altree M, Phillips K, Jaensch L, Fine M, D'Andrea RJ, Lewis ID, Medeiros BC, Pollyea DA, King MC, Walsh T, Keel S, Shimamura A, Godley LA, Hahn CN, Churpek JE, Scott HS.

Blood. 2016 Feb 25;127(8):1017-23. doi: 10.1182/blood-2015-10-676098. Epub 2015 Dec 28.

18.

Bodyweight change aids prediction of survival in chronic equine grass sickness.

Jago RC, Handel I, Hahn CN, Pirie RS, Keen JA, Waggett BE, McGorum BC.

Equine Vet J. 2016 Nov;48(6):792-797. doi: 10.1111/evj.12551. Epub 2016 Jan 25.

19.

Delayed diagnosis leading to accelerated-phase chronic eosinophilic leukemia due to a cytogenetically cryptic, imatinib-responsive TNIP1-PDFGRB fusion gene.

Ross DM, Altamura HK, Hahn CN, Nicola M, Yeoman AL, Holloway MR, Geoghegan J, Feng J, Schreiber AW, Branford S, Moore S, Scott HS.

Leukemia. 2016 Jun;30(6):1402-5. doi: 10.1038/leu.2015.301. Epub 2015 Oct 27. No abstract available.

PMID:
26503642
20.

GATA2 is required for lymphatic vessel valve development and maintenance.

Kazenwadel J, Betterman KL, Chong CE, Stokes PH, Lee YK, Secker GA, Agalarov Y, Demir CS, Lawrence DM, Sutton DL, Tabruyn SP, Miura N, Salminen M, Petrova TV, Matthews JM, Hahn CN, Scott HS, Harvey NL.

J Clin Invest. 2015 Aug 3;125(8):2979-94. doi: 10.1172/JCI78888. Epub 2015 Jul 27.

21.

Revealing Missing Human Protein Isoforms Based on Ab Initio Prediction, RNA-seq and Proteomics.

Hu Z, Scott HS, Qin G, Zheng G, Chu X, Xie L, Adelson DL, Oftedal BE, Venugopal P, Babic M, Hahn CN, Zhang B, Wang X, Li N, Wei C.

Sci Rep. 2015 Jul 9;5:10940. doi: 10.1038/srep10940.

22.

Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss.

Gagliardi L, Nataren N, Feng J, Schreiber AW, Hahn CN, Conwell LS, Coman D, Scott HS.

Am J Med Genet A. 2015 Aug;167A(8):1872-6. doi: 10.1002/ajmg.a.37075. Epub 2015 Apr 6.

PMID:
25850411
23.

A tale of two siblings: two cases of AML arising from a single pre-leukemic DNMT3A mutant clone.

Hahn CN, Ross DM, Feng J, Beligaswatte A, Hiwase DK, Parker WT, Ho M, Zawitkowski M, Ambler KL, Cheetham GD, Lee YK, Babic M, Butcher CM, Engler GA, Brown AL, D'Andrea RJ, Lewis ID, Schreiber AW, To LB, Scott HS.

Leukemia. 2015 Oct;29(10):2101-4. doi: 10.1038/leu.2015.67. Epub 2015 Mar 9. No abstract available.

24.

Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia.

Hahn CN, Brautigan PJ, Chong CE, Janssan A, Venugopal P, Lee Y, Tims AE, Horwitz MS, Klingler-Hoffmann M, Scott HS.

Leukemia. 2015 Aug;29(8):1795-7. doi: 10.1038/leu.2015.40. Epub 2015 Feb 13. No abstract available.

PMID:
25676417
25.

Splice factor mutations and alternative splicing as drivers of hematopoietic malignancy.

Hahn CN, Venugopal P, Scott HS, Hiwase DK.

Immunol Rev. 2015 Jan;263(1):257-78. doi: 10.1111/imr.12241. Review.

PMID:
25510282
26.

ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia.

Gagliardi L, Schreiber AW, Hahn CN, Feng J, Cranston T, Boon H, Hotu C, Oftedal BE, Cutfield R, Adelson DL, Braund WJ, Gordon RD, Rees DA, Grossman AB, Torpy DJ, Scott HS.

J Clin Endocrinol Metab. 2014 Sep;99(9):E1784-92. doi: 10.1210/jc.2014-1265. Epub 2014 Jun 6.

PMID:
24905064
27.

A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia.

Shah S, Schrader KA, Waanders E, Timms AE, Vijai J, Miething C, Wechsler J, Yang J, Hayes J, Klein RJ, Zhang J, Wei L, Wu G, Rusch M, Nagahawatte P, Ma J, Chen SC, Song G, Cheng J, Meyers P, Bhojwani D, Jhanwar S, Maslak P, Fleisher M, Littman J, Offit L, Rau-Murthy R, Fleischut MH, Corines M, Murali R, Gao X, Manschreck C, Kitzing T, Murty VV, Raimondi S, Kuiper RP, Simons A, Schiffman JD, Onel K, Plon SE, Wheeler D, Ritter D, Ziegler DS, Tucker K, Sutton R, Chenevix-Trench G, Li J, Huntsman DG, Hansford S, Senz J, Walsh T, Lee M, Hahn CN, Roberts K, King MC, Lo SM, Levine RL, Viale A, Socci ND, Nathanson KL, Scott HS, Daly M, Lipkin SM, Lowe SW, Downing JR, Altshuler D, Sandlund JT, Horwitz MS, Mullighan CG, Offit K.

Nat Genet. 2013 Oct;45(10):1226-1231. doi: 10.1038/ng.2754. Epub 2013 Sep 8.

28.

Regulation of vascular leak and recovery from ischemic injury by general and VE-cadherin-restricted miRNA antagonists of miR-27.

Young JA, Ting KK, Li J, Moller T, Dunn L, Lu Y, Moses J, Prado-Lourenço L, Khachigian LM, Ng M, Gregory PA, Goodall GJ, Tsykin A, Lichtenstein I, Hahn CN, Tran N, Shackel N, Kench JG, McCaughan G, Vadas MA, Gamble JR.

Blood. 2013 Oct 17;122(16):2911-9. doi: 10.1182/blood-2012-12-473017. Epub 2013 Sep 5. Erratum in: Blood. 2014 Nov 6;124(19):3034.

29.

Genome-wide gene expression profiling identifies overlap with malignant adrenocortical tumours and novel mechanisms of inefficient steroidogenesis in familial ACTH-independent macronodular adrenal hyperplasia.

Gagliardi L, Ling KH, Kok CH, Carolan J, Brautigan P, Kenyon R, D'Andrea RJ, Van der Hoek M, Hahn CN, Torpy DJ, Scott HS.

Endocr Relat Cancer. 2012 May 24;19(3):L19-23. doi: 10.1530/ERC-11-0210. Print 2012 Jun. No abstract available.

PMID:
22383426
30.

Spliceosome mutations in hematopoietic malignancies.

Hahn CN, Scott HS.

Nat Genet. 2011 Dec 27;44(1):9-10. doi: 10.1038/ng.1045.

PMID:
22200771
31.

Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability.

Nguyen LS, Jolly L, Shoubridge C, Chan WK, Huang L, Laumonnier F, Raynaud M, Hackett A, Field M, Rodriguez J, Srivastava AK, Lee Y, Long R, Addington AM, Rapoport JL, Suren S, Hahn CN, Gamble J, Wilkinson MF, Corbett MA, Gecz J.

Mol Psychiatry. 2012 Nov;17(11):1103-15. doi: 10.1038/mp.2011.163. Epub 2011 Dec 20.

32.

Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature.

Kazenwadel J, Secker GA, Liu YJ, Rosenfeld JA, Wildin RS, Cuellar-Rodriguez J, Hsu AP, Dyack S, Fernandez CV, Chong CE, Babic M, Bardy PG, Shimamura A, Zhang MY, Walsh T, Holland SM, Hickstein DD, Horwitz MS, Hahn CN, Scott HS, Harvey NL.

Blood. 2012 Feb 2;119(5):1283-91. doi: 10.1182/blood-2011-08-374363. Epub 2011 Dec 6.

33.

Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.

Hahn CN, Chong CE, Carmichael CL, Wilkins EJ, Brautigan PJ, Li XC, Babic M, Lin M, Carmagnac A, Lee YK, Kok CH, Gagliardi L, Friend KL, Ekert PG, Butcher CM, Brown AL, Lewis ID, To LB, Timms AE, Storek J, Moore S, Altree M, Escher R, Bardy PG, Suthers GK, D'Andrea RJ, Horwitz MS, Scott HS.

Nat Genet. 2011 Sep 4;43(10):1012-7. doi: 10.1038/ng.913.

34.

Urocortin 3 transgenic mice exhibit a metabolically favourable phenotype resisting obesity and hyperglycaemia on a high-fat diet.

Jamieson PM, Cleasby ME, Kuperman Y, Morton NM, Kelly PA, Brownstein DG, Mustard KJ, Vaughan JM, Carter RN, Hahn CN, Hardie DG, Seckl JR, Chen A, Vale WW.

Diabetologia. 2011 Sep;54(9):2392-403. doi: 10.1007/s00125-011-2205-6. Epub 2011 Jun 11.

35.

Deep sequencing analysis of the developing mouse brain reveals a novel microRNA.

Ling KH, Brautigan PJ, Hahn CN, Daish T, Rayner JR, Cheah PS, Raison JM, Piltz S, Mann JR, Mattiske DM, Thomas PQ, Adelson DL, Scott HS.

BMC Genomics. 2011 Apr 5;12:176. doi: 10.1186/1471-2164-12-176.

36.

Spatiotemporal regulation of multiple overlapping sense and novel natural antisense transcripts at the Nrgn and Camk2n1 gene loci during mouse cerebral corticogenesis.

Ling KH, Hewitt CA, Beissbarth T, Hyde L, Cheah PS, Smyth GK, Tan SS, Hahn CN, Thomas T, Thomas PQ, Scott HS.

Cereb Cortex. 2011 Mar;21(3):683-97. doi: 10.1093/cercor/bhq141. Epub 2010 Aug 6.

PMID:
20693275
37.

Stress-induced premature senescence mediated by a novel gene, SENEX, results in an anti-inflammatory phenotype in endothelial cells.

Coleman PR, Hahn CN, Grimshaw M, Lu Y, Li X, Brautigan PJ, Beck K, Stocker R, Vadas MA, Gamble JR.

Blood. 2010 Nov 11;116(19):4016-24. doi: 10.1182/blood-2009-11-252700. Epub 2010 Jul 27.

38.

Histological and histochemical characterisation of the equine soft palate muscles.

Hawkes CS, Hahn CN, Dixon PM.

Equine Vet J. 2010 Jul;42(5):431-7. doi: 10.1111/j.2042-3306.2010.00067.x.

PMID:
20636780
39.

Poor prognosis in familial acute myeloid leukaemia with combined biallelic CEBPA mutations and downstream events affecting the ATM, FLT3 and CDX2 genes.

Carmichael CL, Wilkins EJ, Bengtsson H, Horwitz MS, Speed TP, Vincent PC, Young G, Hahn CN, Escher R, Scott HS.

Br J Haematol. 2010 Aug;150(3):382-5. doi: 10.1111/j.1365-2141.2010.08204.x. Epub 2010 Apr 29. No abstract available.

PMID:
20456351
40.

Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome.

Jongmans MC, Kuiper RP, Carmichael CL, Wilkins EJ, Dors N, Carmagnac A, Schouten-van Meeteren AY, Li X, Stankovic M, Kamping E, Bengtsson H, Schoenmakers EF, van Kessel AG, Hoogerbrugge PM, Hahn CN, Brons PP, Scott HS, Hoogerbrugge N.

Leukemia. 2010 Jan;24(1):242-6. doi: 10.1038/leu.2009.210. Epub 2009 Oct 15. No abstract available.

PMID:
19946261
41.

Sphingosine kinase-1 associates with integrin {alpha}V{beta}3 to mediate endothelial cell survival.

Gamble JR, Sun WY, Li X, Hahn CN, Pitson SM, Vadas MA, Bonder CS.

Am J Pathol. 2009 Nov;175(5):2217-25. doi: 10.2353/ajpath.2009.090076. Epub 2009 Oct 8.

42.

A glycogen synthase 1 mutation associated with equine polysaccharide storage myopathy and exertional rhabdomyolysis occurs in a variety of UK breeds.

Stanley RL, McCue ME, Valberg SJ, Mickelson JR, Mayhew IG, McGowan C, Hahn CN, Patterson-Kane JC, Piercy RJ.

Equine Vet J. 2009 Jul;41(6):597-601.

PMID:
19803057
43.

Molecular networks involved in mouse cerebral corticogenesis and spatio-temporal regulation of Sox4 and Sox11 novel antisense transcripts revealed by transcriptome profiling.

Ling KH, Hewitt CA, Beissbarth T, Hyde L, Banerjee K, Cheah PS, Cannon PZ, Hahn CN, Thomas PQ, Smyth GK, Tan SS, Thomas T, Scott HS.

Genome Biol. 2009;10(10):R104. doi: 10.1186/gb-2009-10-10-r104. Epub 2009 Oct 2.

44.

Recurrent laryngeal neuropathy (RLN) research: where are we and to where are we heading?

Dixon PM, Hahn CN, Barakzai SZ.

Equine Vet J. 2009 Apr;41(4):324-7. No abstract available.

PMID:
19562891
45.

JAM-C induces endothelial cell permeability through its association and regulation of {beta}3 integrins.

Li X, Stankovic M, Lee BP, Aurrand-Lions M, Hahn CN, Lu Y, Imhof BA, Vadas MA, Gamble JR.

Arterioscler Thromb Vasc Biol. 2009 Aug;29(8):1200-6. doi: 10.1161/ATVBAHA.109.189217. Epub 2009 May 21.

PMID:
19461049
46.

Histological and ultrastructural evidence that recurrent laryngeal neuropathy is a bilateral mononeuropathy limited to recurrent laryngeal nerves.

Hahn CN, Matiasek K, Dixon PM, Molony V, Rodenacker K, Mayhew IG.

Equine Vet J. 2008 Nov;40(7):666-72.

PMID:
19165936
47.

Polyneuritis equi: the role of T-lymphocytes and importance of differential clinical signs.

Hahn CN.

Equine Vet J. 2008 Mar;40(2):100. doi: 10.2746/042516408X276924. No abstract available.

PMID:
18302992
48.

Assessment of the utility of using intra- and intervertebral minimum sagittal diameter ratios in the diagnosis of cervical vertebral malformation in horses.

Hahn CN, Handel I, Green SL, Bronsvoort MB, Mayhew IG.

Vet Radiol Ultrasound. 2008 Jan-Feb;49(1):1-6. Erratum in: Vet Radiol Ultrasound. 2008 Sep-Oct;49(5):497.

PMID:
18251286
49.

Basal and angiopoietin-1-mediated endothelial permeability is regulated by sphingosine kinase-1.

Li X, Stankovic M, Bonder CS, Hahn CN, Parsons M, Pitson SM, Xia P, Proia RL, Vadas MA, Gamble JR.

Blood. 2008 Apr 1;111(7):3489-97. doi: 10.1182/blood-2007-05-092148. Epub 2008 Jan 16.

50.

A neurologic syndrome in Golden Retrievers presenting as a sensory ataxic neuropathy.

Jäderlund KH, Orvind E, Johnsson E, Matiasek K, Hahn CN, Malm S, Hedhammar A.

J Vet Intern Med. 2007 Nov-Dec;21(6):1307-15.

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