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Items: 1 to 20 of 369

1.

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.

2.

Cc2d1a Loss of Function Disrupts Functional and Morphological Development in Forebrain Neurons Leading to Cognitive and Social Deficits.

Oaks AW, Zamarbide M, Tambunan DE, Santini E, Di Costanzo S, Pond HL, Johnson MW, Lin J, Gonzalez DM, Boehler JF, Wu GK, Klann E, Walsh CA, Manzini MC.

Cereb Cortex. 2016 Jan 29. pii: bhw009. [Epub ahead of print]

PMID:
26826102
3.

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.

D'Gama AM, Pochareddy S, Li M, Jamuar SS, Reiff RE, Lam AT, Sestan N, Walsh CA.

Neuron. 2015 Dec 2;88(5):910-7. doi: 10.1016/j.neuron.2015.11.009.

PMID:
26637798
4.

Disorders of Microtubule Function in Neurons: Imaging Correlates.

Mutch CA, Poduri A, Sahin M, Barry B, Walsh CA, Barkovich AJ.

AJNR Am J Neuroradiol. 2016 Mar;37(3):528-35. doi: 10.3174/ajnr.A4552. Epub 2015 Nov 12.

PMID:
26564436
5.

Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.

Al-Maawali A, Barry BJ, Rajab A, El-Quessny M, Seman A, Coury SN, Barkovich AJ, Yang E, Walsh CA, Mochida GH, Stoler JM.

Am J Med Genet A. 2016 Feb;170A(2):435-40. doi: 10.1002/ajmg.a.37422. Epub 2015 Oct 13.

PMID:
26463574
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):94-8. doi: 10.1126/science.aab1785.

PMID:
26430121
7.

What the gynaecologist fears most in the pelvis?

Walsh CA.

BJOG. 2015 Sep 28. doi: 10.1111/1471-0528.13620. [Epub ahead of print] No abstract available.

PMID:
26411295
8.

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.

Sanders SJ, He X, Willsey AJ, Ercan-Sencicek AG, Samocha KE, Cicek AE, Murtha MT, Bal VH, Bishop SL, Dong S, Goldberg AP, Jinlu C, Keaney JF 3rd, Klei L, Mandell JD, Moreno-De-Luca D, Poultney CS, Robinson EB, Smith L, Solli-Nowlan T, Su MY, Teran NA, Walker MF, Werling DM, Beaudet AL, Cantor RM, Fombonne E, Geschwind DH, Grice DE, Lord C, Lowe JK, Mane SM, Martin DM, Morrow EM, Talkowski ME, Sutcliffe JS, Walsh CA, Yu TW; Autism Sequencing Consortium, Ledbetter DH, Martin CL, Cook EH, Buxbaum JD, Daly MJ, Devlin B, Roeder K, State MW.

Neuron. 2015 Sep 23;87(6):1215-33. doi: 10.1016/j.neuron.2015.09.016.

PMID:
26402605
9.

FLNA-Related Periventricular Nodular Heterotopia.

Chen MH, Walsh CA.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2002 Oct 8 [updated 2015 Sep 17].

10.

The contribution of massive fetomaternal hemorrhage to antepartum stillbirth: a 25-year cross-sectional study.

O'Leary BD, Walsh CA, Fitzgerald JM, Downey P, McAuliffe FM.

Acta Obstet Gynecol Scand. 2015 Dec;94(12):1354-8. doi: 10.1111/aogs.12762. Epub 2015 Sep 16.

PMID:
26332994
11.

Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication.

Kodani A, Yu TW, Johnson JR, Jayaraman D, Johnson TL, Al-Gazali L, Sztriha L, Partlow JN, Kim H, Krup AL, Dammermann A, Krogan NJ, Walsh CA, Reiter JF.

Elife. 2015 Aug 22;4. doi: 10.7554/eLife.07519.

12.

A novel 2q37 microdeletion containing human neural progenitors genes including STK25 results in severe developmental delay, epilepsy, and microcephaly.

Imitola J, Khurana DS, Teplyuk NM, Zucker M, Jethva R, Legido A, Krichevsky AM, Frangieh M, Walsh CA, Carvalho KS.

Am J Med Genet A. 2015 Nov;167A(11):2808-16. doi: 10.1002/ajmg.a.37268. Epub 2015 Aug 4.

PMID:
26238961
13.

Genomic variants and variations in malformations of cortical development.

Jamuar SS, Walsh CA.

Pediatr Clin North Am. 2015 Jun;62(3):571-85. doi: 10.1016/j.pcl.2015.03.002. Epub 2015 Apr 1. Review.

14.

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.

15.

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.

16.

Control of a neuronal morphology program by an RNA-binding zinc finger protein, Unkempt.

Murn J, Zarnack K, Yang YJ, Durak O, Murphy EA, Cheloufi S, Gonzalez DM, Teplova M, Curk T, Zuber J, Patel DJ, Ule J, Luscombe NM, Tsai LH, Walsh CA, Shi Y.

Genes Dev. 2015 Mar 1;29(5):501-12. doi: 10.1101/gad.258483.115.

17.

Single-cell analysis reveals transcriptional heterogeneity of neural progenitors in human cortex.

Johnson MB, Wang PP, Atabay KD, Murphy EA, Doan RN, Hecht JL, Walsh CA.

Nat Neurosci. 2015 May;18(5):637-46. doi: 10.1038/nn.3980. Epub 2015 Mar 3.

PMID:
25734491
18.

Genetic changes shaping the human brain.

Bae BI, Jayaraman D, Walsh CA.

Dev Cell. 2015 Feb 23;32(4):423-34. doi: 10.1016/j.devcel.2015.01.035. Review.

19.

'False' lambda sign in monochorionic twin pregnancy.

Walsh CA, Wilkinson M, Downey P, Mooney EE, Carroll S.

Ultrasound Obstet Gynecol. 2015 Sep;46(3):376-7. doi: 10.1002/uog.14827. No abstract available.

PMID:
25708185
20.

Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.

D'Gama AM, Geng Y, Couto JA, Martin B, Boyle EA, LaCoursiere CM, Hossain A, Hatem NE, Barry BJ, Kwiatkowski DJ, Vinters HV, Barkovich AJ, Shendure J, Mathern GW, Walsh CA, Poduri A.

Ann Neurol. 2015 Apr;77(4):720-5. doi: 10.1002/ana.24357. Epub 2015 Feb 26.

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