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Items: 25

1.

Redefining the Etiologic Landscape of Cerebellar Malformations.

Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, Alkuraya FS, Biesecker LG, Braddock SR, Cathey S, Cho MT, Chung BHY, Everman DB, Zarate YA, Jones JR, Schwartz CE, Goldstein A, Hopkin RJ, Krantz ID, Ladda RL, Leppig KA, McGillivray BC, Sell S, Wusik K, Gleeson JG, Nickerson DA, Bamshad MJ, Gerrelli D, Lisgo SN, Seelig G, Ishak GE, Barkovich AJ, Curry CJ, Glass IA, Millen KJ, Doherty D, Dobyns WB.

Am J Hum Genet. 2019 Sep 5;105(3):606-615. doi: 10.1016/j.ajhg.2019.07.019. Epub 2019 Aug 29.

PMID:
31474318
2.

Gene expression across mammalian organ development.

Cardoso-Moreira M, Halbert J, Valloton D, Velten B, Chen C, Shao Y, Liechti A, Ascenção K, Rummel C, Ovchinnikova S, Mazin PV, Xenarios I, Harshman K, Mort M, Cooper DN, Sandi C, Soares MJ, Ferreira PG, Afonso S, Carneiro M, Turner JMA, VandeBerg JL, Fallahshahroudi A, Jensen P, Behr R, Lisgo S, Lindsay S, Khaitovich P, Huber W, Baker J, Anders S, Zhang YE, Kaessmann H.

Nature. 2019 Jul;571(7766):505-509. doi: 10.1038/s41586-019-1338-5. Epub 2019 Jun 26.

PMID:
31243369
3.

Single-cell reconstruction of the early maternal-fetal interface in humans.

Vento-Tormo R, Efremova M, Botting RA, Turco MY, Vento-Tormo M, Meyer KB, Park JE, Stephenson E, Polański K, Goncalves A, Gardner L, Holmqvist S, Henriksson J, Zou A, Sharkey AM, Millar B, Innes B, Wood L, Wilbrey-Clark A, Payne RP, Ivarsson MA, Lisgo S, Filby A, Rowitch DH, Bulmer JN, Wright GJ, Stubbington MJT, Haniffa M, Moffett A, Teichmann SA.

Nature. 2018 Nov;563(7731):347-353. doi: 10.1038/s41586-018-0698-6. Epub 2018 Nov 14.

PMID:
30429548
4.

Subtle left-right asymmetry of gene expression profiles in embryonic and foetal human brains.

de Kovel CGF, Lisgo SN, Fisher SE, Francks C.

Sci Rep. 2018 Sep 4;8(1):12606. doi: 10.1038/s41598-018-29496-2.

5.

Transcriptomic analysis of left-right differences in human embryonic forebrain and midbrain.

de Kovel CGF, Lisgo SN, Francks C.

Sci Data. 2018 Sep 4;5:180164. doi: 10.1038/sdata.2018.164.

6.

Single-cell transcriptomes from human kidneys reveal the cellular identity of renal tumors.

Young MD, Mitchell TJ, Vieira Braga FA, Tran MGB, Stewart BJ, Ferdinand JR, Collord G, Botting RA, Popescu DM, Loudon KW, Vento-Tormo R, Stephenson E, Cagan A, Farndon SJ, Del Castillo Velasco-Herrera M, Guzzo C, Richoz N, Mamanova L, Aho T, Armitage JN, Riddick ACP, Mushtaq I, Farrell S, Rampling D, Nicholson J, Filby A, Burge J, Lisgo S, Maxwell PH, Lindsay S, Warren AY, Stewart GD, Sebire N, Coleman N, Haniffa M, Teichmann SA, Clatworthy M, Behjati S.

Science. 2018 Aug 10;361(6402):594-599. doi: 10.1126/science.aat1699.

7.

The Transcription Factors COUP-TFI and COUP-TFII have Distinct Roles in Arealisation and GABAergic Interneuron Specification in the Early Human Fetal Telencephalon.

Alzu'bi A, Lindsay SJ, Harkin LF, McIntyre J, Lisgo SN, Clowry GJ.

Cereb Cortex. 2017 Oct 1;27(10):4971-4987. doi: 10.1093/cercor/bhx185.

8.

Left-Right Asymmetry of Maturation Rates in Human Embryonic Neural Development.

de Kovel CGF, Lisgo S, Karlebach G, Ju J, Cheng G, Fisher SE, Francks C.

Biol Psychiatry. 2017 Aug 1;82(3):204-212. doi: 10.1016/j.biopsych.2017.01.016. Epub 2017 Feb 1.

PMID:
28267988
9.

Stokes-Doppler coherence imaging for ITER boundary tomography.

Howard J, Kocan M, Lisgo S, Reichle R.

Rev Sci Instrum. 2016 Nov;87(11):11E561.

PMID:
27910470
10.

HDBR Expression: A Unique Resource for Global and Individual Gene Expression Studies during Early Human Brain Development.

Lindsay SJ, Xu Y, Lisgo SN, Harkin LF, Copp AJ, Gerrelli D, Clowry GJ, Talbot A, Keogh MJ, Coxhead J, Santibanez-Koref M, Chinnery PF.

Front Neuroanat. 2016 Oct 26;10:86. eCollection 2016. No abstract available.

11.

Zika Virus Disrupts Phospho-TBK1 Localization and Mitosis in Human Neuroepithelial Stem Cells and Radial Glia.

Onorati M, Li Z, Liu F, Sousa AMM, Nakagawa N, Li M, Dell'Anno MT, Gulden FO, Pochareddy S, Tebbenkamp ATN, Han W, Pletikos M, Gao T, Zhu Y, Bichsel C, Varela L, Szigeti-Buck K, Lisgo S, Zhang Y, Testen A, Gao XB, Mlakar J, Popovic M, Flamand M, Strittmatter SM, Kaczmarek LK, Anton ES, Horvath TL, Lindenbach BD, Sestan N.

Cell Rep. 2016 Sep 6;16(10):2576-2592. doi: 10.1016/j.celrep.2016.08.038. Epub 2016 Aug 24.

12.

Enabling research with human embryonic and fetal tissue resources.

Gerrelli D, Lisgo S, Copp AJ, Lindsay S.

Development. 2015 Sep 15;142(18):3073-6. doi: 10.1242/dev.122820.

13.

Divertor impurity injection using high voltage arcs for impurity transport studies on the Mega Amp Spherical Tokamak.

Leggate HJ, Lisgo SW, Harrison JR, Elmore S, Allan SY, Gaffka RC, Stephen RC, Turner MM.

Rev Sci Instrum. 2014 Dec;85(12):123503. doi: 10.1063/1.4903352.

PMID:
25554289
14.

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.

Thomas S, Cantagrel V, Mariani L, Serre V, Lee JE, Elkhartoufi N, de Lonlay P, Desguerre I, Munnich A, Boddaert N, Lyonnet S, Vekemans M, Lisgo SN, Caspary T, Gleeson J, Attié-Bitach T.

Eur J Hum Genet. 2015 May;23(5):621-7. doi: 10.1038/ejhg.2014.156. Epub 2014 Aug 20.

15.

Embryonic cerebrospinal fluid nanovesicles carry evolutionarily conserved molecules and promote neural stem cell amplification.

Feliciano DM, Zhang S, Nasrallah CM, Lisgo SN, Bordey A.

PLoS One. 2014 Feb 12;9(2):e88810. doi: 10.1371/journal.pone.0088810. eCollection 2014.

16.

Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning.

Bae BI, Tietjen I, Atabay KD, Evrony GD, Johnson MB, Asare E, Wang PP, Murayama AY, Im K, Lisgo SN, Overman L, Šestan N, Chang BS, Barkovich AJ, Grant PE, Topçu M, Politsky J, Okano H, Piao X, Walsh CA.

Science. 2014 Feb 14;343(6172):764-8. doi: 10.1126/science.1244392.

17.

C5a receptor signaling prevents folate deficiency-induced neural tube defects in mice.

Denny KJ, Coulthard LG, Jeanes A, Lisgo S, Simmons DG, Callaway LK, Wlodarczyk B, Finnell RH, Woodruff TM, Taylor SM.

J Immunol. 2013 Apr 1;190(7):3493-9. doi: 10.4049/jimmunol.1203072. Epub 2013 Feb 18.

18.

Concept development for the ITER equatorial port visible∕infrared wide angle viewing system.

Reichle R, Beaumont B, Boilson D, Bouhamou R, Direz MF, Encheva A, Henderson M, Huxford R, Kazarian F, Lamalle P, Lisgo S, Mitteau R, Patel KM, Pitcher CS, Pitts RA, Prakash A, Raffray R, Schunke B, Snipes J, Diaz AS, Udintsev VS, Walker C, Walsh M.

Rev Sci Instrum. 2012 Oct;83(10):10E520. doi: 10.1063/1.4734487.

PMID:
23127027
19.

Spatio-temporal transcriptome of the human brain.

Kang HJ, Kawasawa YI, Cheng F, Zhu Y, Xu X, Li M, Sousa AM, Pletikos M, Meyer KA, Sedmak G, Guennel T, Shin Y, Johnson MB, Krsnik Z, Mayer S, Fertuzinhos S, Umlauf S, Lisgo SN, Vortmeyer A, Weinberger DR, Mane S, Hyde TM, Huttner A, Reimers M, Kleinman JE, Sestan N.

Nature. 2011 Oct 26;478(7370):483-9. doi: 10.1038/nature10523.

20.

The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis.

Bakircioglu M, Carvalho OP, Khurshid M, Cox JJ, Tuysuz B, Barak T, Yilmaz S, Caglayan O, Dincer A, Nicholas AK, Quarrell O, Springell K, Karbani G, Malik S, Gannon C, Sheridan E, Crosier M, Lisgo SN, Lindsay S, Bilguvar K, Gergely F, Gunel M, Woods CG.

Am J Hum Genet. 2011 May 13;88(5):523-35. doi: 10.1016/j.ajhg.2011.03.019. Epub 2011 Apr 28.

21.

A comparative proteomic analysis of human and rat embryonic cerebrospinal fluid.

Zappaterra MD, Lisgo SN, Lindsay S, Gygi SP, Walsh CA, Ballif BA.

J Proteome Res. 2007 Sep;6(9):3537-48. Epub 2007 Aug 16.

PMID:
17696520
22.

Truncation of NHEJ1 in a patient with polymicrogyria.

Cantagrel V, Lossi AM, Lisgo S, Missirian C, Borges A, Philip N, Fernandez C, Cardoso C, Figarella-Branger D, Moncla A, Lindsay S, Dobyns WB, Villard L.

Hum Mutat. 2007 Apr;28(4):356-64.

PMID:
17191205
23.

Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.

Tarpey P, Thomas S, Sarvananthan N, Mallya U, Lisgo S, Talbot CJ, Roberts EO, Awan M, Surendran M, McLean RJ, Reinecke RD, Langmann A, Lindner S, Koch M, Jain S, Woodruff G, Gale RP, Bastawrous A, Degg C, Droutsas K, Asproudis I, Zubcov AA, Pieh C, Veal CD, Machado RD, Backhouse OC, Baumber L, Constantinescu CS, Brodsky MC, Hunter DG, Hertle RW, Read RJ, Edkins S, O'Meara S, Parker A, Stevens C, Teague J, Wooster R, Futreal PA, Trembath RC, Stratton MR, Raymond FL, Gottlob I.

Nat Genet. 2006 Nov;38(11):1242-4. Epub 2006 Oct 1. Erratum in: Nat Genet. 2011 Jul;43(7):720. Bastawrous, Andrew [added].

24.

NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.

Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T.

Nat Genet. 2004 Jun;36(6):636-41. Epub 2004 May 16.

PMID:
15146185
25.

Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.

Braybrook C, Lisgo S, Doudney K, Henderson D, Marçano AC, Strachan T, Patton MA, Villard L, Moore GE, Stanier P, Lindsay S.

Hum Mol Genet. 2002 Oct 15;11(22):2793-804.

PMID:
12374769

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