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Items: 1 to 50 of 167

1.

Parental health spillover effects of paediatric rare genetic conditions.

Wu Y, Al-Janabi H, Mallett A, Quinlan C, Scheffer IE, Howell KB, Christodoulou J, Leventer RJ, Lockhart PJ, Stark Z, Boughtwood T, Goranitis I.

Qual Life Res. 2020 Apr 7. doi: 10.1007/s11136-020-02497-3. [Epub ahead of print]

PMID:
32266555
2.

Distribution of Parkinson's disease associated RAB39B in mouse brain tissue.

Gao Y, Wilson GR, Stephenson SEM, Oulad-Abdelghani M, Charlet-Berguerand N, Bozaoglu K, McLean CA, Thomas PQ, Finkelstein DI, Lockhart PJ.

Mol Brain. 2020 Mar 30;13(1):52. doi: 10.1186/s13041-020-00584-7.

3.

Identification of Genic SSRs Provide a Perspective for Studying Environmental Adaptation in the Endemic Shrub Tetraena mongolica.

Dang Z, Huang L, Jia Y, Lockhart PJ, Fong Y, Tian Y.

Genes (Basel). 2020 Mar 18;11(3). pii: E322. doi: 10.3390/genes11030322.

4.

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.

Tsai MH, Muir AM, Wang WJ, Kang YN, Yang KC, Chao NH, Wu MF, Chang YC, Porter BE, Jansen LA, Sebire G, Deconinck N, Fan WL, Su SC, Chung WH, Almanza Fuerte EP, Mehaffey MG; University of Washington Center for Mendelian Genomics, Ng CC, Chan CK, Lim KS, Leventer RJ, Lockhart PJ, Riney K, Damiano JA, Hildebrand MS, Mirzaa GM, Dobyns WB, Berkovic SF, Scheffer IE, Tsai JW, Mefford HC.

Neuron. 2020 Feb 10. pii: S0896-6273(20)30053-2. doi: 10.1016/j.neuron.2020.01.027. [Epub ahead of print]

PMID:
32097630
5.

Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations.

Spencer-Smith M, Knight JL, Lacaze E; Irc5 Consortium, Depienne C, Lockhart PJ, Richards LJ, Heron D, Leventer RJ, Robinson GA.

Dev Med Child Neurol. 2020 Feb 14. doi: 10.1111/dmcn.14486. [Epub ahead of print]

PMID:
32060908
6.

ASK1 inhibition: a therapeutic strategy with multi-system benefits.

Ogier JM, Nayagam BA, Lockhart PJ.

J Mol Med (Berl). 2020 Mar;98(3):335-348. doi: 10.1007/s00109-020-01878-y. Epub 2020 Feb 14. Review.

7.

A LAMP at the end of the tunnel: A rapid, field deployable assay for the kauri dieback pathogen, Phytophthora agathidicida.

Winkworth RC, Nelson BCW, Bellgard SE, Probst CM, McLenachan PA, Lockhart PJ.

PLoS One. 2020 Jan 24;15(1):e0224007. doi: 10.1371/journal.pone.0224007. eCollection 2020.

8.

Clinical and Neuropathological Features Associated With Loss of RAB39B.

Gao Y, Martínez-Cerdeño V, Hogan KJ, McLean CA, Lockhart PJ.

Mov Disord. 2020 Jan 17. doi: 10.1002/mds.27951. [Epub ahead of print]

PMID:
31951675
9.

Intravenously delivered aminoglycoside antibiotics, tobramycin and amikacin, are not ototoxic in mice.

Ogier JM, Lockhart PJ, Burt RA.

Hear Res. 2020 Feb;386:107870. doi: 10.1016/j.heares.2019.107870. Epub 2019 Dec 13.

10.

Polymicrogyria associated with 17p13.3p13.2 duplication: Case report and review of the literature.

Stutterd CA, Francis D, McGillivray G, Lockhart PJ, Leventer RJ.

Eur J Med Genet. 2020 Apr;63(4):103774. doi: 10.1016/j.ejmg.2019.103774. Epub 2019 Oct 1.

PMID:
31585183
11.

Worldwide relationships in the fern genus Pteridium (bracken) based on nuclear genome markers.

Wolf PG, Rowe CA, Kinosian SP, Der JP, Lockhart PJ, Shepherd LD, McLenachan PA, Thomson JA.

Am J Bot. 2019 Oct;106(10):1365-1376. doi: 10.1002/ajb2.1365. Epub 2019 Sep 23.

12.

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.

Sekiguchi F, Tsurusaki Y, Okamoto N, Teik KW, Mizuno S, Suzumura H, Isidor B, Ong WP, Haniffa M, White SM, Matsuo M, Saito K, Phadke S, Kosho T, Yap P, Goyal M, Clarke LA, Sachdev R, McGillivray G, Leventer RJ, Patel C, Yamagata T, Osaka H, Hisaeda Y, Ohashi H, Shimizu K, Nagasaki K, Hamada J, Dateki S, Sato T, Chinen Y, Awaya T, Kato T, Iwanaga K, Kawai M, Matsuoka T, Shimoji Y, Tan TY, Kapoor S, Gregersen N, Rossi M, Marie-Laure M, McGregor L, Oishi K, Mehta L, Gillies G, Lockhart PJ, Pope K, Shukla A, Girisha KM, Abdel-Salam GMH, Mowat D, Coman D, Kim OH, Cordier MP, Gibson K, Milunsky J, Liebelt J, Cox H, El Chehadeh S, Toutain A, Saida K, Aoi H, Minase G, Tsuchida N, Iwama K, Uchiyama Y, Suzuki T, Hamanaka K, Azuma Y, Fujita A, Imagawa E, Koshimizu E, Takata A, Mitsuhashi S, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N.

J Hum Genet. 2019 Dec;64(12):1173-1186. doi: 10.1038/s10038-019-0667-4. Epub 2019 Sep 17.

PMID:
31530938
13.

Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder.

Bozaoglu K, Gao Y, Stanley E, Fanjul-Fernández M, Brown NJ, Pope K, Green CC, Vlahos K, Sourris K, Bahlo M, Delatycki M, Scheffer I, Lockhart PJ.

Stem Cell Res. 2019 Aug;39:101516. doi: 10.1016/j.scr.2019.101516. Epub 2019 Aug 1.

14.

Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA.

Lee WS, Stephenson SEM, Howell KB, Pope K, Gillies G, Wray A, Maixner W, Mandelstam SA, Berkovic SF, Scheffer IE, MacGregor D, Harvey AS, Lockhart PJ, Leventer RJ.

Ann Clin Transl Neurol. 2019 Jul;6(7):1338-1344. doi: 10.1002/acn3.50815. Epub 2019 Jun 17.

15.

Genetic Analysis of Patients Who Experienced Awareness with Recall while under General Anesthesia.

Sleigh JW, Leslie K, Davidson AJ, Amor DJ, Diakumis P, Lukic V, Lockhart PJ, Bahlo M.

Anesthesiology. 2019 Nov;131(5):974-982. doi: 10.1097/ALN.0000000000002877.

PMID:
31335548
16.

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.

Rafehi H, Szmulewicz DJ, Bennett MF, Sobreira NLM, Pope K, Smith KR, Gillies G, Diakumis P, Dolzhenko E, Eberle MA, Barcina MG, Breen DP, Chancellor AM, Cremer PD, Delatycki MB, Fogel BL, Hackett A, Halmagyi GM, Kapetanovic S, Lang A, Mossman S, Mu W, Patrikios P, Perlman SL, Rosemergy I, Storey E, Watson SRD, Wilson MA, Zee DS, Valle D, Amor DJ, Bahlo M, Lockhart PJ.

Am J Hum Genet. 2019 Jul 3;105(1):151-165. doi: 10.1016/j.ajhg.2019.05.016. Epub 2019 Jun 20.

17.

Pathogenic Variants in GPC4 Cause Keipert Syndrome.

Amor DJ, Stephenson SEM, Mustapha M, Mensah MA, Ockeloen CW, Lee WS, Tankard RM, Phelan DG, Shinawi M, de Brouwer APM, Pfundt R, Dowling C, Toler TL, Sutton VR, Agolini E, Rinelli M, Capolino R, Martinelli D, Zampino G, Dumić M, Reardon W, Shaw-Smith C, Leventer RJ, Delatycki MB, Kleefstra T, Mundlos S, Mortier G, Bahlo M, Allen NJ, Lockhart PJ.

Am J Hum Genet. 2019 May 2;104(5):914-924. doi: 10.1016/j.ajhg.2019.02.026. Epub 2019 Apr 11.

18.

Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update.

Stephenson SE, Djaldetti R, Rafehi H, Wilson GR, Gillies G, Bahlo M, Lockhart PJ.

Parkinsonism Relat Disord. 2019 Jul;64:308-311. doi: 10.1016/j.parkreldis.2019.03.013. Epub 2019 Mar 22.

PMID:
30928208
19.

Cerebral hypomyelination associated with biallelic variants of FIG4.

Lenk GM, Berry IR, Stutterd CA, Blyth M, Green L, Vadlamani G, Warren D, Craven I, Fanjul-Fernandez M, Rodriguez-Casero V, Lockhart PJ, Vanderver A, Simons C, Gibb S, Sadedin S; Broad Center for Mendelian Genomics, White SM, Christodoulou J, Skibina O, Ruddle J, Tan TY, Leventer RJ, Livingston JH, Meisler MH.

Hum Mutat. 2019 May;40(5):619-630. doi: 10.1002/humu.23720. Epub 2019 Feb 28.

PMID:
30740813
20.

Metagenome Profiling Identifies Potential Biocontrol Agents for Selaginella kraussiana in New Zealand.

Dang Z, McLenachan PA, Lockhart PJ, Waipara N, Er O, Reynolds C, Blanchon D.

Genes (Basel). 2019 Jan 31;10(2). pii: E106. doi: 10.3390/genes10020106.

21.

Generation of iPSC lines from peripheral blood mononuclear cells from 5 healthy adults.

Vlahos K, Sourris K, Mayberry R, McDonald P, Bruveris FF, Schiesser JV, Bozaoglu K, Lockhart PJ, Stanley EG, Elefanty AG.

Stem Cell Res. 2019 Jan;34:101380. doi: 10.1016/j.scr.2018.101380. Epub 2018 Dec 27.

22.

Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data.

Tankard RM, Bennett MF, Degorski P, Delatycki MB, Lockhart PJ, Bahlo M.

Am J Hum Genet. 2018 Dec 6;103(6):858-873. doi: 10.1016/j.ajhg.2018.10.015. Epub 2018 Nov 29.

23.

Microbiome dataset from the upper respiratory tract of patients living with HIV, HIV/TB and TB from Myanmar.

Htun KS, Fong Y, Kyaw AA, Aung ST, Oo KZ, Zaw T, Lockhart PJ, Russell B, Cook GM, Aung HL, Hlaing TM.

Data Brief. 2018 Oct 4;21:354-357. doi: 10.1016/j.dib.2018.10.003. eCollection 2018 Dec.

24.

Teaching NeuroImages: Imaging features of DCC-mediated mirror movements and isolated agenesis of the corpus callosum.

Edwards TJ, Marsh APL, Lockhart PJ, Richards LJ, Leventer RJ.

Neurology. 2018 Aug 28;91(9):e886-e887. doi: 10.1212/WNL.0000000000006085. No abstract available.

PMID:
30150274
25.

CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63.

Marsh APL, Novarino G, Lockhart PJ, Leventer RJ.

Eur J Hum Genet. 2019 Jan;27(1):161-166. doi: 10.1038/s41431-018-0231-2. Epub 2018 Aug 8.

26.

Recent advances in the detection of repeat expansions with short-read next-generation sequencing.

Bahlo M, Bennett MF, Degorski P, Tankard RM, Delatycki MB, Lockhart PJ.

F1000Res. 2018 Jun 13;7. pii: F1000 Faculty Rev-736. doi: 10.12688/f1000research.13980.1. eCollection 2018. Review.

27.

Generation and characterisation of a parkin-Pacrg knockout mouse line and a Pacrg knockout mouse line.

Stephenson SEM, Aumann TD, Taylor JM, Riseley JR, Li R, Mann JR, Tomas D, Lockhart PJ.

Sci Rep. 2018 May 14;8(1):7528. doi: 10.1038/s41598-018-25766-1.

28.

Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype.

de Vos IJHM, Tao EY, Ong SLM, Goggi JL, Scerri T, Wilson GR, Low CGM, Wong ASW, Grussu D, Stegmann APA, van Geel M, Janssen R, Amor DJ, Bahlo M, Dunn NR, Carney TJ, Lockhart PJ, Coull BJ, van Steensel MAM.

Hum Mol Genet. 2018 Aug 15;27(16):2775-2788. doi: 10.1093/hmg/ddy168.

29.

Somatic GNAQ mutation in the forme fruste of Sturge-Weber syndrome.

Hildebrand MS, Harvey AS, Malone S, Damiano JA, Do H, Ye Z, McQuillan L, Maixner W, Kalnins R, Nolan B, Wood M, Ozturk E, Jones NC, Gillies G, Pope K, Lockhart PJ, Dobrovic A, Leventer RJ, Scheffer IE, Berkovic SF.

Neurol Genet. 2018 May 1;4(3):e236. doi: 10.1212/NXG.0000000000000236. eCollection 2018 Jun.

30.

Failure to Recover Major Events of Gene Flux in Real Biological Data Due to Method Misapplication.

Kapust N, Nelson-Sathi S, Schönfeld B, Hazkani-Covo E, Bryant D, Lockhart PJ, Röttger M, Xavier JC, Martin WF.

Genome Biol Evol. 2018 Apr 1;10(5):1198-1209. doi: 10.1093/gbe/evy080.

31.

Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations.

Stutterd CA, Lake NJ, Peters H, Lockhart PJ, Taft RJ, van der Knaap MS, Vanderver A, Thorburn DR, Simons C, Leventer RJ.

JIMD Rep. 2019;43:63-70. doi: 10.1007/8904_2018_100. Epub 2018 Apr 14.

32.

Generation of RAB39B knockout isogenic human embryonic stem cell lines to model RAB39B-mediated Parkinson's disease.

Gao Y, Wilson GR, Bozaoglu K, Elefanty AG, Stanley EG, Dottori M, Lockhart PJ.

Stem Cell Res. 2018 Apr;28:161-164. doi: 10.1016/j.scr.2018.02.015. Epub 2018 Feb 21.

33.

DEPDC5 and NPRL3 modulate cell size, filopodial outgrowth, and localization of mTOR in neural progenitor cells and neurons.

Iffland PH 2nd, Baybis M, Barnes AE, Leventer RJ, Lockhart PJ, Crino PB.

Neurobiol Dis. 2018 Jun;114:184-193. doi: 10.1016/j.nbd.2018.02.013. Epub 2018 Feb 24.

34.

DCC Is Required for the Development of Nociceptive Topognosis in Mice and Humans.

da Silva RV, Johannssen HC, Wyss MT, Roome RB, Bourojeni FB, Stifani N, Marsh APL, Ryan MM, Lockhart PJ, Leventer RJ, Richards LJ, Rosenblatt B, Srour M, Weber B, Zeilhofer HU, Kania A.

Cell Rep. 2018 Jan 30;22(5):1105-1114. doi: 10.1016/j.celrep.2018.01.004.

35.

The emerging role of Rab GTPases in the pathogenesis of Parkinson's disease.

Gao Y, Wilson GR, Stephenson SEM, Bozaoglu K, Farrer MJ, Lockhart PJ.

Mov Disord. 2018 Feb;33(2):196-207. doi: 10.1002/mds.27270. Epub 2018 Jan 9. Review.

PMID:
29315801
36.

Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14.

Stutterd C, Diakumis P, Bahlo M, Fanjul Fernandez M, Leventer RJ, Delatycki M, Amor D, Chow CW, Stephenson S, Meisler MH, Mclean C, Lockhart PJ.

Ann Clin Transl Neurol. 2017 Nov 7;4(12):859-864. doi: 10.1002/acn3.487. eCollection 2017 Dec.

37.

DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.

Marsh APL, Edwards TJ, Galea C, Cooper HM, Engle EC, Jamuar SS, Méneret A, Moutard ML, Nava C, Rastetter A, Robinson G, Rouleau G, Roze E, Spencer-Smith M, Trouillard O, Billette de Villemeur T, Walsh CA, Yu TW; IRC5 Consortium, Heron D, Sherr EH, Richards LJ, Depienne C, Leventer RJ, Lockhart PJ.

Hum Mutat. 2018 Jan;39(1):23-39. doi: 10.1002/humu.23361. Epub 2017 Nov 11. Review.

38.

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.

Ylikallio E, Woldegebriel R, Tumiati M, Isohanni P, Ryan MM, Stark Z, Walsh M, Sawyer SL, Bell KM, Oshlack A, Lockhart PJ, Shcherbii M, Estrada-Cuzcano A, Atkinson D, Hartley T, Tetreault M, Cuppen I, van der Pol WL, Candayan A, Battaloglu E, Parman Y, van Gassen KLI, van den Boogaard MH, Boycott KM, Kauppi L, Jordanova A, Lönnqvist T, Tyynismaa H.

Brain. 2017 Aug 1;140(8):2093-2103. doi: 10.1093/brain/awx138.

PMID:
28633435
39.

Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy.

Walsh M, Bell KM, Chong B, Creed E, Brett GR, Pope K, Thorne NP, Sadedin S, Georgeson P, Phelan DG, Day T, Taylor JA, Sexton A, Lockhart PJ, Kiers L, Fahey M, Macciocca I, Gaff CL, Oshlack A, Yiu EM, James PA, Stark Z, Ryan MM; Melbourne Genomics Health Alliance.

Ann Clin Transl Neurol. 2017 Apr 26;4(5):318-325. doi: 10.1002/acn3.409. eCollection 2017 May.

40.

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.

Marsh AP, Heron D, Edwards TJ, Quartier A, Galea C, Nava C, Rastetter A, Moutard ML, Anderson V, Bitoun P, Bunt J, Faudet A, Garel C, Gillies G, Gobius I, Guegan J, Heide S, Keren B, Lesne F, Lukic V, Mandelstam SA, McGillivray G, McIlroy A, Méneret A, Mignot C, Morcom LR, Odent S, Paolino A, Pope K, Riant F, Robinson GA, Spencer-Smith M, Srour M, Stephenson SE, Tankard R, Trouillard O, Welniarz Q, Wood A, Brice A, Rouleau G, Attié-Bitach T, Delatycki MB, Mandel JL, Amor DJ, Roze E, Piton A, Bahlo M, Billette de Villemeur T, Sherr EH, Leventer RJ, Richards LJ, Lockhart PJ, Depienne C.

Nat Genet. 2017 Apr;49(4):511-514. doi: 10.1038/ng.3794. Epub 2017 Feb 27.

41.

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

Stessman HA, Xiong B, Coe BP, Wang T, Hoekzema K, Fenckova M, Kvarnung M, Gerdts J, Trinh S, Cosemans N, Vives L, Lin J, Turner TN, Santen G, Ruivenkamp C, Kriek M, van Haeringen A, Aten E, Friend K, Liebelt J, Barnett C, Haan E, Shaw M, Gecz J, Anderlid BM, Nordgren A, Lindstrand A, Schwartz C, Kooy RF, Vandeweyer G, Helsmoortel C, Romano C, Alberti A, Vinci M, Avola E, Giusto S, Courchesne E, Pramparo T, Pierce K, Nalabolu S, Amaral DG, Scheffer IE, Delatycki MB, Lockhart PJ, Hormozdiari F, Harich B, Castells-Nobau A, Xia K, Peeters H, Nordenskjöld M, Schenck A, Bernier RA, Eichler EE.

Nat Genet. 2017 Apr;49(4):515-526. doi: 10.1038/ng.3792. Epub 2017 Feb 13.

42.

A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.

Marsh AP, Yap P, Tan T, Pope K, White SM, Chong B, Mcgillivray G, Boys A, Stephenson SE, Leventer RJ, Stark Z, Lockhart PJ.

Am J Med Genet A. 2017 Mar;173(3):820-823. doi: 10.1002/ajmg.a.38076. Epub 2017 Feb 7. No abstract available.

PMID:
28168832
43.

Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink Repair.

Vaz B, Popovic M, Newman JA, Fielden J, Aitkenhead H, Halder S, Singh AN, Vendrell I, Fischer R, Torrecilla I, Drobnitzky N, Freire R, Amor DJ, Lockhart PJ, Kessler BM, McKenna GW, Gileadi O, Ramadan K.

Mol Cell. 2016 Nov 17;64(4):704-719. doi: 10.1016/j.molcel.2016.09.032. Epub 2016 Oct 27.

44.

Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency.

Amor DJ, Marsh AP, Storey E, Tankard R, Gillies G, Delatycki MB, Pope K, Bromhead C, Leventer RJ, Bahlo M, Lockhart PJ.

Neurol Genet. 2016 Oct 18;2(6):e114. eCollection 2016 Dec.

45.

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.

Wan J, Steffen J, Yourshaw M, Mamsa H, Andersen E, Rudnik-Schöneborn S, Pope K, Howell KB, McLean CA, Kornberg AJ, Joseph J, Lockhart PJ, Zerres K, Ryan MM, Nelson SF, Koehler CM, Jen JC.

Brain. 2016 Nov 1;139(11):2877-2890. doi: 10.1093/brain/aww212.

46.

Rasmussen encephalitis tissue transfer program.

Kruse CA, Pardo CA, Hartman AL, Jallo G, Vining EP, Voros J, Gaillard WD, Liu J, Oluigbo C, Malone S, Bleasel AF, Dexter M, Micati A, Velasco TR, Machado HR, Martino AM, Huang A, Wheatley BM, Grant GA, Granata T, Freri E, Garbelli R, Koh S, Nordli DR, Campos AR, O'Neill B, Handler MH, Chapman KE, Wilfong AA, Curry DJ, Yaun A, Madsen JR, Smyth MD, Mercer D, Bingaman W, Harvey AS, Leventer RJ, Lockhart PJ, Gillies G, Pope K, Giller CA, Park YD, Rojiani AM, Sharma SJ, Jenkins P, Tung S, Huynh MN, Chirwa TW, Cepeda C, Levine MS, Chang JW, Owens GC, Vinters HV, Mathern GW.

Epilepsia. 2016 Jun;57(6):1005-7. doi: 10.1111/epi.13383. No abstract available.

47.

ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy.

Phelan DG, Anderson DJ, Howden SE, Wong RC, Hickey PF, Pope K, Wilson GR, Pébay A, Davis AM, Petrou S, Elefanty AG, Stanley EG, James PA, Macciocca I, Bahlo M, Cheung MM, Amor DJ, Elliott DA, Lockhart PJ.

Eur Heart J. 2016 Sep 1;37(33):2586-90. doi: 10.1093/eurheartj/ehw160. Epub 2016 Apr 22.

PMID:
27106955
48.

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss.

Marsh AP, Lukic V, Pope K, Bromhead C, Tankard R, Ryan MM, Yiu EM, Sim JC, Delatycki MB, Amor DJ, McGillivray G, Sherr EH, Bahlo M, Leventer RJ, Lockhart PJ.

Neurol Genet. 2015 Jul 16;1(2):e16. doi: 10.1212/NXG.0000000000000014. eCollection 2015 Aug.

49.

Simulating and Summarizing Sources of Gene Tree Incongruence.

Woodhams MD, Lockhart PJ, Holland BR.

Genome Biol Evol. 2016 May 9;8(5):1299-315. doi: 10.1093/gbe/evw065.

50.

Evidence of a Strong Domestication Bottleneck in the Recently Cultivated New Zealand Endemic Root Crop, Arthropodium cirratum (Asparagaceae).

Shepherd LD, de Lange PJ, Cox S, McLenachan PA, Roskruge NR, Lockhart PJ.

PLoS One. 2016 Mar 24;11(3):e0152455. doi: 10.1371/journal.pone.0152455. eCollection 2016.

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