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Results: 1 to 20 of 356

1.

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.

2.

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 1. pii: 10.1212/WNL.0000000000001523. [Epub ahead of print]

PMID:
25832664
3.

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.

PMID:
25737280
4.

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 Mar 3. doi: 10.1038/nn.3980. [Epub ahead of print]

PMID:
25734491
5.

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.

PMID:
25710529
6.

"False" lambda sign in a monochorionic twin pregnancy.

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

Ultrasound Obstet Gynecol. 2015 Feb 24. doi: 10.1002/uog.14827. [Epub ahead of print] No abstract available.

PMID:
25708185
7.

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.

PMID:
25599672
8.

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.

PMID:
25569347
9.

A Genome-wide Association Study of Autism Using the Simons Simplex Collection: Does Reducing Phenotypic Heterogeneity in Autism Increase Genetic Homogeneity?

Chaste P, Klei L, Sanders SJ, Hus V, Murtha MT, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Mane SM, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, Lese Martin C, Beaudet AL, Lord C, State MW, Cook EH Jr, Devlin B.

Biol Psychiatry. 2015 May 1;77(9):775-84. doi: 10.1016/j.biopsych.2014.09.017. Epub 2014 Sep 30.

PMID:
25534755
10.

Katanin p80 regulates human cortical development by limiting centriole and cilia number.

Hu WF, Pomp O, Ben-Omran T, Kodani A, Henke K, Mochida GH, Yu TW, Woodworth MB, Bonnard C, Raj GS, Tan TT, Hamamy H, Masri A, Shboul M, Al Saffar M, Partlow JN, Al-Dosari M, Alazami A, Alowain M, Alkuraya FS, Reiter JF, Harris MP, Reversade B, Walsh CA.

Neuron. 2014 Dec 17;84(6):1240-57. doi: 10.1016/j.neuron.2014.12.017.

PMID:
25521379
11.

Psychological stress associated with cardiogenetic conditions.

Hidayatallah N, Silverstein LB, Stolerman M, McDonald T, Walsh CA, Paljevic E, Cohen LL, Marion RW, Wasserman D, Hreyo S, Dolan SM.

Per Med. 2014 Sep 1;11(7):631-640.

PMID:
25431604
12.

Somatic mutations in cerebral cortical malformations.

Jamuar SS, Walsh CA.

N Engl J Med. 2014 Nov 20;371(21):2038. doi: 10.1056/NEJMc1411784. No abstract available.

13.

The prevalence of arrhythmias, predictors for arrhythmias, and safety of exercise stress testing in children.

Ghosh RM, Gates GJ, Walsh CA, Schiller MS, Pass RH, Ceresnak SR.

Pediatr Cardiol. 2015 Mar;36(3):584-90. doi: 10.1007/s00246-014-1053-9. Epub 2014 Nov 11.

PMID:
25384613
14.

Synaptic, transcriptional and chromatin genes disrupted in autism.

De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Hill RS, Ionita-Laza J, Jimenz Gonzalez P, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei I, Lei J, Lehtimäki T, Lin CF, Ma'ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnström K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-Rüther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Li-San W, Weiss LA, Willsey AJ, Yu TW, Yuen RK; DDD Study; Homozygosity Mapping Collaborative for Autism; UK10K Consortium, Cook EH, Freitag CM, Gill M, Hultman CM, Lehner T, Palotie A, Schellenberg GD, Sklar P, State MW, Sutcliffe JS, Walsh CA, Scherer SW, Zwick ME, Barett JC, Cutler DJ, Roeder K, Devlin B, Daly MJ, Buxbaum JD.

Nature. 2014 Nov 13;515(7526):209-15. doi: 10.1038/nature13772. Epub 2014 Oct 29.

PMID:
25363760
15.

Natural history of fetal trisomy 13 after prenatal diagnosis.

Barry SC, Walsh CA, Burke AL, McParland P, McAuliffe FM, Morrison JJ.

Am J Med Genet A. 2015 Jan;167A(1):147-50. doi: 10.1002/ajmg.a.36824. Epub 2014 Oct 22.

PMID:
25339456
16.

The diverse genetic landscape of neurodevelopmental disorders.

Hu WF, Chahrour MH, Walsh CA.

Annu Rev Genomics Hum Genet. 2014;15:195-213. doi: 10.1146/annurev-genom-090413-025600.

PMID:
25184530
17.

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.

18.

Somatic mutations in cerebral cortical malformations.

Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, Dan B, Parrini E, Guerrini R, Scheffer IE, Berkovic SF, Leventer RJ, Shen Y, Wu BL, Barkovich AJ, Sahin M, Chang BS, Bamshad M, Nickerson DA, Shendure J, Poduri A, Yu TW, Walsh CA.

N Engl J Med. 2014 Aug 21;371(8):733-43. doi: 10.1056/NEJMoa1314432.

19.

Translating advances in cardiogenetics into effective clinical practice.

Silverstein LB, Stolerman M, Hidayatallah N, McDonald T, Walsh CA, Paljevic E, Cohen LL, Marion RW, Wasserman D, Dolan SM.

Qual Health Res. 2014 Oct;24(10):1315-28. doi: 10.1177/1049732314546754. Epub 2014 Aug 11.

PMID:
25114027
20.

CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis.

Manzini MC, Xiong L, Shaheen R, Tambunan DE, Di Costanzo S, Mitisalis V, Tischfield DJ, Cinquino A, Ghaziuddin M, Christian M, Jiang Q, Laurent S, Nanjiani ZA, Rasheed S, Hill RS, Lizarraga SB, Gleason D, Sabbagh D, Salih MA, Alkuraya FS, Walsh CA.

Cell Rep. 2014 Aug 7;8(3):647-55. doi: 10.1016/j.celrep.2014.06.039. Epub 2014 Jul 24.

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