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Items: 17

1.

DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.

Urreizti R, Mayer K, Evrony GD, Said E, Castilla-Vallmanya L, Cody NAL, Plasencia G, Gelb BD, Grinberg D, Brinkmann U, Webb BD, Balcells S.

Eur J Hum Genet. 2019 Mar 15. doi: 10.1038/s41431-019-0374-9. [Epub ahead of print]

PMID:
30877278
2.

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.

Evrony GD, Cordero DR, Shen J, Partlow JN, Yu TW, Rodin RE, Hill RS, Coulter ME, Lam AN, Jayaraman D, Gerrelli D, Diaz DG, Santos C, Morrison V, Galli A, Tschulena U, Wiemann S, Martel MJ, Spooner B, Ryu SC, Elhosary PC, Richardson JM, Tierney D, Robinson CA, Chibbar R, Diudea D, Folkerth R, Wiebe S, Barkovich AJ, Mochida GH, Irvine J, Lemire EG, Blakley P, Walsh CA.

Genome Res. 2017 Aug;27(8):1323-1335. doi: 10.1101/gr.219899.116. Epub 2017 Jun 19.

3.

One brain, many genomes.

Evrony GD.

Science. 2016 Nov 4;354(6312):557-558. No abstract available.

4.

A PIECE OF MY MIND. A Wild Rotation.

Evrony GD.

JAMA. 2016 Aug 16;316(7):713-4. doi: 10.1001/jama.2016.4994. No abstract available.

5.

Resolving rates of mutation in the brain using single-neuron genomics.

Evrony GD, Lee E, Park PJ, Walsh CA.

Elife. 2016 Feb 22;5. pii: e12966. doi: 10.7554/eLife.12966.

6.

Somatic mutation in single human neurons tracks developmental and transcriptional history.

Lodato MA, Woodworth MB, Lee S, Evrony GD, Mehta BK, Karger A, Lee S, Chittenden TW, D'Gama AM, Cai X, Luquette LJ, Lee E, Park PJ, Walsh CA.

Science. 2015 Oct 2;350(6256):94-98. doi: 10.1126/science.aab1785.

7.

Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain.

Cai X, Evrony GD, Lehmann HS, Elhosary PC, Mehta BK, Poduri A, Walsh CA.

Cell Rep. 2015 Feb 3;10(4):645. doi: 10.1016/j.celrep.2015.01.028. Epub 2015 Feb 3. No abstract available.

8.

Loss of PCLO function underlies pontocerebellar hypoplasia type III.

Ahmed MY, Chioza BA, Rajab A, Schmitz-Abe K, Al-Khayat A, Al-Turki S, Baple EL, Patton MA, Al-Memar AY, Hurles ME, Partlow JN, Hill RS, Evrony GD, Servattalab S, Markianos K, Walsh CA, Crosby AH, Mochida GH.

Neurology. 2015 Apr 28;84(17):1745-50. doi: 10.1212/WNL.0000000000001523. Epub 2015 Apr 1.

9.

Cell lineage analysis in human brain using endogenous retroelements.

Evrony GD, Lee E, Mehta BK, Benjamini Y, Johnson RM, Cai X, Yang L, Haseley P, Lehmann HS, Park PJ, Walsh CA.

Neuron. 2015 Jan 7;85(1):49-59. doi: 10.1016/j.neuron.2014.12.028.

10.

Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain.

Cai X, Evrony GD, Lehmann HS, Elhosary PC, Mehta BK, Poduri A, Walsh CA.

Cell Rep. 2014 Sep 11;8(5):1280-9. doi: 10.1016/j.celrep.2014.07.043. Epub 2014 Aug 21. Erratum in: Cell Rep. 2015 Feb 3;10(4):645.

11.

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.

12.

METTL23, a transcriptional partner of GABPA, is essential for human cognition.

Reiff RE, Ali BR, Baron B, Yu TW, Ben-Salem S, Coulter ME, Schubert CR, Hill RS, Akawi NA, Al-Younes B, Kaya N, Evrony GD, Al-Saffar M, Felie JM, Partlow JN, Sunu CM, Schembri-Wismayer P, Alkuraya FS, Meyer BF, Walsh CA, Al-Gazali L, Mochida GH.

Hum Mol Genet. 2014 Jul 1;23(13):3456-66. doi: 10.1093/hmg/ddu054. Epub 2014 Feb 5.

13.

Somatic mutation, genomic variation, and neurological disease.

Poduri A, Evrony GD, Cai X, Walsh CA.

Science. 2013 Jul 5;341(6141):1237758. doi: 10.1126/science.1237758. Review.

14.

Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation.

Yang YJ, Baltus AE, Mathew RS, Murphy EA, Evrony GD, Gonzalez DM, Wang EP, Marshall-Walker CA, Barry BJ, Murn J, Tatarakis A, Mahajan MA, Samuels HH, Shi Y, Golden JA, Mahajnah M, Shenhav R, Walsh CA.

Cell. 2012 Nov 21;151(5):1097-112. doi: 10.1016/j.cell.2012.10.043.

15.

Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain.

Evrony GD, Cai X, Lee E, Hills LB, Elhosary PC, Lehmann HS, Parker JJ, Atabay KD, Gilmore EC, Poduri A, Park PJ, Walsh CA.

Cell. 2012 Oct 26;151(3):483-96. doi: 10.1016/j.cell.2012.09.035.

16.

Somatic activation of AKT3 causes hemispheric developmental brain malformations.

Poduri A, Evrony GD, Cai X, Elhosary PC, Beroukhim R, Lehtinen MK, Hills LB, Heinzen EL, Hill A, Hill RS, Barry BJ, Bourgeois BF, Riviello JJ, Barkovich AJ, Black PM, Ligon KL, Walsh CA.

Neuron. 2012 Apr 12;74(1):41-8. doi: 10.1016/j.neuron.2012.03.010.

17.

Tetanus toxin C fragment-conjugated nanoparticles for targeted drug delivery to neurons.

Townsend SA, Evrony GD, Gu FX, Schulz MP, Brown RH Jr, Langer R.

Biomaterials. 2007 Dec;28(34):5176-84. Epub 2007 Sep 14.

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