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Results: 1 to 20 of 109

1.

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.

Wilson GR, Sim JC, McLean C, Giannandrea M, Galea CA, Riseley JR, Stephenson SE, Fitzpatrick E, Haas SA, Pope K, Hogan KJ, Gregg RG, Bromhead CJ, Wargowski DS, Lawrence CH, James PA, Churchyard A, Gao Y, Phelan DG, Gillies G, Salce N, Stanford L, Marsh AP, Mignogna ML, Hayflick SJ, Leventer RJ, Delatycki MB, Mellick GD, Kalscheuer VM, D'Adamo P, Bahlo M, Amor DJ, Lockhart PJ.

Am J Hum Genet. 2014 Dec 4;95(6):729-35. doi: 10.1016/j.ajhg.2014.10.015. Epub 2014 Nov 26.

PMID:
25434005
[PubMed - in process]
2.

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.

Lessel D, Vaz B, Halder S, Lockhart PJ, Marinovic-Terzic I, Lopez-Mosqueda J, Philipp M, Sim JC, Smith KR, Oehler J, Cabrera E, Freire R, Pope K, Nahid A, Norris F, Leventer RJ, Delatycki MB, Barbi G, von Ameln S, Högel J, Degoricija M, Fertig R, Burkhalter MD, Hofmann K, Thiele H, Altmüller J, Nürnberg G, Nürnberg P, Bahlo M, Martin GM, Aalfs CM, Oshima J, Terzic J, Amor DJ, Dikic I, Ramadan K, Kubisch C.

Nat Genet. 2014 Nov;46(11):1239-44. doi: 10.1038/ng.3103. Epub 2014 Sep 28.

PMID:
25261934
[PubMed - indexed for MEDLINE]
3.

Refining analyses of copy number variation identifies specific genes associated with developmental delay.

Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MR, Torchia BS, Peeters H, O'Roak BJ, Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, Gécz J, de Vries BB, Romano C, Eichler EE.

Nat Genet. 2014 Oct;46(10):1063-71. doi: 10.1038/ng.3092. Epub 2014 Sep 14.

PMID:
25217958
[PubMed - indexed for MEDLINE]
4.

Identification of a novel RNF213 variant in a family with heterogeneous intracerebral vasculopathy.

Smith KR, Leventer RJ, Mackay MT, Pope K, Gillies G, Delatycki MB, Amor DJ, Bahlo M, Lockhart PJ.

Int J Stroke. 2014 Aug;9(6):E26-7. doi: 10.1111/ijs.12306. No abstract available.

PMID:
25043520
[PubMed - in process]
5.

Cell and gene therapy for Friedreich ataxia: progress to date.

Evans-Galea MV, Pébay A, Dottori M, Corben LA, Ong SH, Lockhart PJ, Delatycki MB.

Hum Gene Ther. 2014 Aug;25(8):684-93. doi: 10.1089/hum.2013.180. Epub 2014 Jun 19.

PMID:
24749505
[PubMed - in process]
6.

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.

Sim JC, White SM, Fitzpatrick E, Wilson GR, Gillies G, Pope K, Mountford HS, Torring PM, McKee S, Vulto-van Silfhout AT, Jhangiani SN, Muzny DM, Leventer RJ, Delatycki MB, Amor DJ, Lockhart PJ.

Orphanet J Rare Dis. 2014 Mar 27;9:43. doi: 10.1186/1750-1172-9-43.

PMID:
24674232
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Beyond loss of frataxin: the complex molecular pathology of Friedreich ataxia.

Evans-Galea MV, Lockhart PJ, Galea CA, Hannan AJ, Delatycki MB.

Discov Med. 2014 Jan;17(91):25-35. Review.

PMID:
24411698
[PubMed - indexed for MEDLINE]
Free Article
8.

HFE p.C282Y heterozygosity is associated with earlier disease onset in Friedreich ataxia.

Delatycki MB, Tai G, Corben L, Yiu EM, Evans-Galea MV, Stephenson SE, Gurrin L, Allen KJ, Lynch D, Lockhart PJ.

Mov Disord. 2014 Jun;29(7):940-3. doi: 10.1002/mds.25795. Epub 2014 Jan 3.

PMID:
24390816
[PubMed - in process]
9.

Species radiation by niche shifts in New Zealand's rockcresses (Pachycladon, Brassicaceae).

Joly S, Heenan PB, Lockhart PJ.

Syst Biol. 2014 Mar;63(2):192-202. doi: 10.1093/sysbio/syt104. Epub 2013 Dec 10.

PMID:
24335427
[PubMed - indexed for MEDLINE]
10.

Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.

Wilson GR, Sunley J, Smith KR, Pope K, Bromhead CJ, Fitzpatrick E, Di Rocco M, van Steensel M, Coman DJ, Leventer RJ, Delatycki MB, Amor DJ, Bahlo M, Lockhart PJ.

Eur J Hum Genet. 2014 Jun;22(6):741-7. doi: 10.1038/ejhg.2013.229. Epub 2013 Oct 9.

PMID:
24105366
[PubMed - in process]
11.

Detection and diversity of pathogenic Vibrio from Fiji.

Singh R, Narayan V, McLenachan P, Winkworth RC, Mitra S, Lockhart PJ, Berry L, Hatha AM, Aalbersberg W, Rao D.

Environ Microbiol Rep. 2012 Aug;4(4):403-11. doi: 10.1111/j.1758-2229.2012.00344.x. Epub 2012 Apr 12.

PMID:
23760825
[PubMed]
12.

Identification of chloroplast genome loci suitable for high-resolution phylogeographic studies of Colocasia esculenta (L.) Schott (Araceae) and closely related taxa.

Ahmed I, Matthews PJ, Biggs PJ, Naeem M, McLenachan PA, Lockhart PJ.

Mol Ecol Resour. 2013 Sep;13(5):929-37. doi: 10.1111/1755-0998.12128. Epub 2013 May 30.

PMID:
23718317
[PubMed - indexed for MEDLINE]
13.

Environmental bio-monitoring with high-throughput sequencing.

Wang J, McLenachan PA, Biggs PJ, Winder LH, Schoenfeld BI, Narayan VV, Phiri BJ, Lockhart PJ.

Brief Bioinform. 2013 Sep;14(5):575-88. doi: 10.1093/bib/bbt032. Epub 2013 May 15. Review.

PMID:
23677899
[PubMed - indexed for MEDLINE]
14.

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

Taft RJ, Vanderver A, Leventer RJ, Damiani SA, Simons C, Grimmond SM, Miller D, Schmidt J, Lockhart PJ, Pope K, Ru K, Crawford J, Rosser T, de Coo IF, Juneja M, Verma IC, Prabhakar P, Blaser S, Raiman J, Pouwels PJ, Bevova MR, Abbink TE, van der Knaap MS, Wolf NI.

Am J Hum Genet. 2013 May 2;92(5):774-80. doi: 10.1016/j.ajhg.2013.04.006.

PMID:
23643384
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Genomes of Stigonematalean cyanobacteria (subsection V) and the evolution of oxygenic photosynthesis from prokaryotes to plastids.

Dagan T, Roettger M, Stucken K, Landan G, Koch R, Major P, Gould SB, Goremykin VV, Rippka R, Tandeau de Marsac N, Gugger M, Lockhart PJ, Allen JF, Brune I, Maus I, Pühler A, Martin WF.

Genome Biol Evol. 2013;5(1):31-44. doi: 10.1093/gbe/evs117.

PMID:
23221676
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Mutational dynamics of aroid chloroplast genomes.

Ahmed I, Biggs PJ, Matthews PJ, Collins LJ, Hendy MD, Lockhart PJ.

Genome Biol Evol. 2012;4(12):1316-23. doi: 10.1093/gbe/evs110.

PMID:
23204304
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

The evolutionary root of flowering plants.

Goremykin VV, Nikiforova SV, Biggs PJ, Zhong B, Delange P, Martin W, Woetzel S, Atherton RA, McLenachan PA, Lockhart PJ.

Syst Biol. 2013 Jan 1;62(1):50-61. doi: 10.1093/sysbio/sys070. Epub 2012 Jul 31.

PMID:
22851550
[PubMed - indexed for MEDLINE]
18.

Parkin co-regulated gene is involved in aggresome formation and autophagy in response to proteasomal impairment.

Taylor JM, Brody KM, Lockhart PJ.

Exp Cell Res. 2012 Oct 1;318(16):2059-70. doi: 10.1016/j.yexcr.2012.05.011. Epub 2012 May 28.

PMID:
22652456
[PubMed - indexed for MEDLINE]
19.

The COMT Val158 allele is associated with impaired delayed-match-to-sample performance in ADHD.

Matthews N, Vance A, Cummins TD, Wagner J, Connolly A, Yamada J, Lockhart PJ, Panwar A, Wallace RH, Bellgrove MA.

Behav Brain Funct. 2012 May 28;8:25. doi: 10.1186/1744-9081-8-25.

PMID:
22640745
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

The mitochondrial genome of Malus domestica and the import-driven hypothesis of mitochondrial genome expansion in seed plants.

Goremykin VV, Lockhart PJ, Viola R, Velasco R.

Plant J. 2012 Aug;71(4):615-26. doi: 10.1111/j.1365-313X.2012.05014.x. Epub 2012 Jun 14.

PMID:
22469001
[PubMed - indexed for MEDLINE]
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