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Items: 1 to 20 of 203

1.

Flue-gas and direct-air capture of CO2 by porous metal-organic materials.

Madden DG, Scott HS, Kumar A, Chen KJ, Sanii R, Bajpai A, Lusi M, Curtin T, Perry JJ, Zaworotko MJ.

Philos Trans A Math Phys Eng Sci. 2017 Jan 13;375(2084). pii: 20160025.

PMID:
27895255
2.

Towards an understanding of the propensity for crystalline hydrate formation by molecular compounds.

Bajpai A, Scott HS, Pham T, Chen KJ, Space B, Lusi M, Perry ML, Zaworotko MJ.

IUCrJ. 2016 Oct 18;3(Pt 6):430-439.

3.
4.

A network-biology perspective of microRNA function and dysfunction in cancer.

Bracken CP, Scott HS, Goodall GJ.

Nat Rev Genet. 2016 Dec;17(12):719-732. doi: 10.1038/nrg.2016.134.

PMID:
27795564
5.

Identification of a pathogenic variant in TREX1 in early-onset cerebral SLE by whole-exome sequencing.

Ellyard JI, Jerjen R, Martin JL, Lee A, Field MA, Jiang SH, Cappello J, Naumann SK, Andrews TD, Scott HS, Casarotto MG, Goodnow CC, Chaitow J, Pascual V, Hertzog P, Alexander SI, Cook MC, Vinuesa CG.

Pathology. 2016 Feb;48 Suppl 1:S47. doi: 10.1016/j.pathol.2015.12.120. No abstract available.

PMID:
27773052
6.

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.

PMID:
27323706
7.

Autosomal dominant hypocalcaemia due to a novel CASR mutation: clinical and genetic implications.

Gagliardi L, Burt MG, Feng J, Poplawski NK, Scott HS.

Clin Endocrinol (Oxf). 2016 Sep;85(3):495-7. doi: 10.1111/cen.13104. No abstract available.

PMID:
27177819
8.

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

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

Br J Haematol. 2016 May 2. doi: 10.1111/bjh.14126. [Epub ahead of print] No abstract available.

PMID:
27136492
9.

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.

10.

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.

11.

Correction: HENMT1 and piRNA Stability Are Required for Adult Male Germ Cell Transposon Repression and to Define the Spermatogenic Program in the Mouse.

Lim SL, Qu ZP, Kortschak RD, Lawrence DM, Geoghegan J, Hempfling AL, Bergmann M, Goodnow CC, Ormandy CJ, Wong L, Mann J, Scott HS, Jamsai D, Adelson DL, O'Bryan MK.

PLoS Genet. 2015 Dec 29;11(12):e1005782. doi: 10.1371/journal.pgen.1005782. No abstract available.

12.

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.

PMID:
26712909
13.

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. No abstract available.

PMID:
26503642
14.

HENMT1 and piRNA Stability Are Required for Adult Male Germ Cell Transposon Repression and to Define the Spermatogenic Program in the Mouse.

Lim SL, Qu ZP, Kortschak RD, Lawrence DM, Geoghegan J, Hempfling AL, Bergmann M, Goodnow CC, Ormandy CJ, Wong L, Mann J, Scott HS, Jamsai D, Adelson DL, O'Bryan MK.

PLoS Genet. 2015 Oct 23;11(10):e1005620. doi: 10.1371/journal.pgen.1005620. Erratum in: PLoS Genet. 2015 Dec;11(12):e1005782.

15.

Transcriptional profiling of the postnatal brain of the Ts1Cje mouse model of Down syndrome.

Tan KL, Ling KH, Hewitt CA, Cheah PS, Simpson K, Gordon L, Pritchard MA, Smyth GK, Thomas T, Scott HS.

Genom Data. 2014 Oct 2;2:314-7. doi: 10.1016/j.gdata.2014.09.009.

16.

Novel mode of 2-fold interpenetration observed in a primitive cubic network of formula [Ni(1,2-bis(4-pyridyl)acetylene)2(Cr2O7)]n.

Scott HS, Bajpai A, Chen KJ, Pham T, Space B, Perry JJ 4th, Zaworotko MJ.

Chem Commun (Camb). 2015 Oct 14;51(80):14832-5. doi: 10.1039/c5cc05866j.

PMID:
26307270
17.

Presentation of m.3243A>G (MT-TL1; tRNALeu) variant with focal neurology in infancy.

Mordaunt DA, McIntyre LC, Salvemini H, Ibrahim A, Bratkovic D, Ketteridge D, Scott HS, Kassahn KS, Smith N.

Am J Med Genet A. 2015 Nov;167A(11):2697-701. doi: 10.1002/ajmg.a.37161.

PMID:
26289840
18.

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.

19.

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.

20.

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.

PMID:
25850411
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