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Items: 1 to 50 of 406

1.

PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.

Khalil R, Kenny C, Hill RS, Mochida GH, Nasir R, Partlow JN, Barry BJ, Al-Saffar M, Egan C, Stevens CR, Gabriel SB, Barkovich AJ, Ellison JW, Al-Gazali L, Walsh CA, Chahrour MH.

Am J Med Genet B Neuropsychiatr Genet. 2018 Dec;177(8):736-745. doi: 10.1002/ajmg.b.32688. Epub 2018 Nov 13.

PMID:
30421579
2.
3.

Somatic mosaicism and neurodevelopmental disease.

D'Gama AM, Walsh CA.

Nat Neurosci. 2018 Nov;21(11):1504-1514. doi: 10.1038/s41593-018-0257-3. Epub 2018 Oct 22. Review.

PMID:
30349109
4.

Somatic Mutation in Pediatric Neurological Diseases.

Rodin RE, Walsh CA.

Pediatr Neurol. 2018 Oct;87:20-22. doi: 10.1016/j.pediatrneurol.2018.08.008. Epub 2018 Aug 11. Review. No abstract available.

PMID:
30249355
5.

Rainer W. Guillery and the genetic analysis of brain development.

Walsh CA.

Eur J Neurosci. 2018 Aug 27. doi: 10.1111/ejn.14135. [Epub ahead of print] Review.

PMID:
30152010
6.

Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development.

Smith RS, Kenny CJ, Ganesh V, Jang A, Borges-Monroy R, Partlow JN, Hill RS, Shin T, Chen AY, Doan RN, Anttonen AK, Ignatius J, Medne L, Bönnemann CG, Hecht JL, Salonen O, Barkovich AJ, Poduri A, Wilke M, de Wit MCY, Mancini GMS, Sztriha L, Im K, Amrom D, Andermann E, Paetau R, Lehesjoki AE, Walsh CA, Lehtinen MK.

Neuron. 2018 Sep 5;99(5):905-913.e7. doi: 10.1016/j.neuron.2018.07.052. Epub 2018 Aug 23.

PMID:
30146301
7.

The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles.

Coulter ME, Dorobantu CM, Lodewijk GA, Delalande F, Cianferani S, Ganesh VS, Smith RS, Lim ET, Xu CS, Pang S, Wong ET, Lidov HGW, Calicchio ML, Yang E, Gonzalez DM, Schlaeger TM, Mochida GH, Hess H, Lee WA, Lehtinen MK, Kirchhausen T, Haussler D, Jacobs FMJ, Gaudin R, Walsh CA.

Cell Rep. 2018 Jul 24;24(4):973-986.e8. doi: 10.1016/j.celrep.2018.06.100.

8.

The Epigenetic State of PRDM16-Regulated Enhancers in Radial Glia Controls Cortical Neuron Position.

Baizabal JM, Mistry M, García MT, Gómez N, Olukoya O, Tran D, Johnson MB, Walsh CA, Harwell CC.

Neuron. 2018 Jul 11;99(1):239-241. doi: 10.1016/j.neuron.2018.06.031. No abstract available.

PMID:
30001508
9.

Evolutionary Changes in Transcriptional Regulation: Insights into Human Behavior and Neurological Conditions.

Doan RN, Shin T, Walsh CA.

Annu Rev Neurosci. 2018 Jul 8;41:185-206. doi: 10.1146/annurev-neuro-080317-062104.

PMID:
29986162
10.

Making a Notch in the Evolution of the Human Cortex.

Bizzotto S, Walsh CA.

Dev Cell. 2018 Jun 4;45(5):548-550. doi: 10.1016/j.devcel.2018.05.015.

PMID:
29870717
11.

The Genetics of Primary Microcephaly.

Jayaraman D, Bae BI, Walsh CA.

Annu Rev Genomics Hum Genet. 2018 Aug 31;19:177-200. doi: 10.1146/annurev-genom-083117-021441. Epub 2018 May 23.

PMID:
29799801
12.

The Epigenetic State of PRDM16-Regulated Enhancers in Radial Glia Controls Cortical Neuron Position.

Baizabal JM, Mistry M, García MT, Gómez N, Olukoya O, Tran D, Johnson MB, Walsh CA, Harwell CC.

Neuron. 2018 Jun 6;98(5):945-962.e8. doi: 10.1016/j.neuron.2018.04.033. Epub 2018 May 17. Erratum in: Neuron. 2018 Jul 11;99(1):239-241.

PMID:
29779941
13.

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.

Heinzen EL, O'Neill AC, Zhu X, Allen AS, Bahlo M, Chelly J, Chen MH, Dobyns WB, Freytag S, Guerrini R, Leventer RJ, Poduri A, Robertson SP, Walsh CA, Zhang M; Epi4K Consortium; Epilepsy Phenome/Genome Project.

PLoS Genet. 2018 May 8;14(5):e1007281. doi: 10.1371/journal.pgen.1007281. eCollection 2018 May.

14.

Expanding the clinical spectrum of biallelic ZNF335 variants.

Stouffs K, Stergachis AB, Vanderhasselt T, Dica A, Janssens S, Vandervore L, Gheldof A, Bodamer O, Keymolen K, Seneca S, Liebaers I, Jayaraman D, Hill HE, Partlow JN, Walsh CA, Jansen AC.

Clin Genet. 2018 Aug;94(2):246-251. doi: 10.1111/cge.13260. Epub 2018 May 3.

PMID:
29652087
15.

Aspm knockout ferret reveals an evolutionary mechanism governing cerebral cortical size.

Johnson MB, Sun X, Kodani A, Borges-Monroy R, Girskis KM, Ryu SC, Wang PP, Patel K, Gonzalez DM, Woo YM, Yan Z, Liang B, Smith RS, Chatterjee M, Coman D, Papademetris X, Staib LH, Hyder F, Mandeville JB, Grant PE, Im K, Kwak H, Engelhardt JF, Walsh CA, Bae BI.

Nature. 2018 Apr;556(7701):370-375. doi: 10.1038/s41586-018-0035-0. Epub 2018 Apr 11.

16.

Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations.

Chen MH, Choudhury S, Hirata M, Khalsa S, Chang B, Walsh CA.

Am J Med Genet A. 2018 Feb;176(2):337-350. doi: 10.1002/ajmg.a.38580.

PMID:
29334594
17.

Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.

D'Gama AM, Woodworth MB, Hossain AA, Bizzotto S, Hatem NE, LaCoursiere CM, Najm I, Ying Z, Yang E, Barkovich AJ, Kwiatkowski DJ, Vinters HV, Madsen JR, Mathern GW, Blümcke I, Poduri A, Walsh CA.

Cell Rep. 2017 Dec 26;21(13):3754-3766. doi: 10.1016/j.celrep.2017.11.106.

18.

Aging and neurodegeneration are associated with increased mutations in single human neurons.

Lodato MA, Rodin RE, Bohrson CL, Coulter ME, Barton AR, Kwon M, Sherman MA, Vitzthum CM, Luquette LJ, Yandava CN, Yang P, Chittenden TW, Hatem NE, Ryu SC, Woodworth MB, Park PJ, Walsh CA.

Science. 2018 Feb 2;359(6375):555-559. doi: 10.1126/science.aao4426. Epub 2017 Dec 7. Erratum in: Science. 2018 Jul 6;361(6397):.

19.

PaSD-qc: quality control for single cell whole-genome sequencing data using power spectral density estimation.

Sherman MA, Barton AR, Lodato MA, Vitzthum C, Coulter ME, Walsh CA, Park PJ.

Nucleic Acids Res. 2018 Feb 28;46(4):e20. doi: 10.1093/nar/gkx1195.

20.

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.

PMID:
29068161
21.

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.

Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, D'Gama AM, Kim SN, Hill RS, Goldberg AP, Poultney C, Minshew NJ, Kushima I, Aleksic B, Ozaki N, Parellada M, Arango C, Penzol MJ, Carracedo A, Kolevzon A, Hultman CM, Weiss LA, Fromer M, Chiocchetti AG, Freitag CM; Autism Sequencing Consortium, Church GM, Scherer SW, Buxbaum JD, Walsh CA.

Nat Neurosci. 2017 Sep;20(9):1217-1224. doi: 10.1038/nn.4598. Epub 2017 Jul 17.

22.

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.

23.

Self-Generated Magnetic Fields in the Stagnation Phase of Indirect-Drive Implosions on the National Ignition Facility.

Walsh CA, Chittenden JP, McGlinchey K, Niasse NPL, Appelbe BD.

Phys Rev Lett. 2017 Apr 14;118(15):155001. doi: 10.1103/PhysRevLett.118.155001. Epub 2017 Apr 10.

24.

Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network.

McConnell MJ, Moran JV, Abyzov A, Akbarian S, Bae T, Cortes-Ciriano I, Erwin JA, Fasching L, Flasch DA, Freed D, Ganz J, Jaffe AE, Kwan KY, Kwon M, Lodato MA, Mills RE, Paquola ACM, Rodin RE, Rosenbluh C, Sestan N, Sherman MA, Shin JH, Song S, Straub RE, Thorpe J, Weinberger DR, Urban AE, Zhou B, Gage FH, Lehner T, Senthil G, Walsh CA, Chess A, Courchesne E, Gleeson JG, Kidd JM, Park PJ, Pevsner J, Vaccarino FM; Brain Somatic Mosaicism Network.

Science. 2017 Apr 28;356(6336). pii: eaal1641. doi: 10.1126/science.aal1641. Epub 2017 Apr 27. Review.

25.

Cleaning service gaps in Bermuda, North Atlantic.

Walsh CAJ, Pinheiro HT, Rocha LA, Goodbody-Gringley G.

Ecology. 2017 Jul;98(7):1973-1974. doi: 10.1002/ecy.1841. Epub 2017 May 30. No abstract available.

PMID:
28376263
26.

Effects of Buprenorphine, Methylnaltrexone, and Their Combination on Gastrointestinal Transit in Healthy New Zealand White Rabbits.

Martin-Flores M, Singh B, Walsh CA, Brooks EP, Taylor L, Mitchell LM.

J Am Assoc Lab Anim Sci. 2017 Mar 1;56(2):155-159.

27.

Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy.

Lakhani S, Doan R, Almureikhi M, Partlow JN, Al Saffar M, Elsaid MF, Alaaraj N, James Barkovich A, Walsh CA, Ben-Omran T.

Eur J Med Genet. 2017 May;60(5):245-249. doi: 10.1016/j.ejmg.2017.02.006. Epub 2017 Feb 27.

28.

Biallelic mutations in human DCC cause developmental split-brain syndrome.

Jamuar SS, Schmitz-Abe K, D'Gama AM, Drottar M, Chan WM, Peeva M, Servattalab S, Lam AN, Delgado MR, Clegg NJ, Zayed ZA, Dogar MA, Alorainy IA, Jamea AA, Abu-Amero K, Griebel M, Ward W, Lein ES, Markianos K, Barkovich AJ, Robson CD, Grant PE, Bosley TM, Engle EC, Walsh CA, Yu TW.

Nat Genet. 2017 Apr;49(4):606-612. doi: 10.1038/ng.3804. Epub 2017 Feb 27.

29.

Building a lineage from single cells: genetic techniques for cell lineage tracking.

Woodworth MB, Girskis KM, Walsh CA.

Nat Rev Genet. 2017 Apr;18(4):230-244. doi: 10.1038/nrg.2016.159. Epub 2017 Jan 23. Review.

30.

A microRNA negative feedback loop downregulates vesicle transport and inhibits fear memory.

Mathew RS, Tatarakis A, Rudenko A, Johnson-Venkatesh EM, Yang YJ, Murphy EA, Todd TP, Schepers ST, Siuti N, Martorell AJ, Falls WA, Hammack SE, Walsh CA, Tsai LH, Umemori H, Bouton ME, Moazed D.

Elife. 2016 Dec 21;5. pii: e22467. doi: 10.7554/eLife.22467.

31.

Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate.

Jayaraman D, Kodani A, Gonzalez DM, Mancias JD, Mochida GH, Vagnoni C, Johnson J, Krogan N, Harper JW, Reiter JF, Yu TW, Bae BI, Walsh CA.

Neuron. 2016 Nov 23;92(4):813-828. doi: 10.1016/j.neuron.2016.09.056. Epub 2016 Oct 27.

32.

Cerebral cortical neuron diversity and development at single-cell resolution.

Johnson MB, Walsh CA.

Curr Opin Neurobiol. 2017 Feb;42:9-16. doi: 10.1016/j.conb.2016.11.001. Epub 2016 Nov 23. Review.

33.

Evolution of Osteocrin as an activity-regulated factor in the primate brain.

Ataman B, Boulting GL, Harmin DA, Yang MG, Baker-Salisbury M, Yap EL, Malik AN, Mei K, Rubin AA, Spiegel I, Durresi E, Sharma N, Hu LS, Pletikos M, Griffith EC, Partlow JN, Stevens CR, Adli M, Chahrour M, Sestan N, Walsh CA, Berezovskii VK, Livingstone MS, Greenberg ME.

Nature. 2016 Nov 10;539(7628):242-247. doi: 10.1038/nature20111.

34.

TAPS-related fetal cerebellar disruption.

Brinsmead SK, Walsh CA.

J Matern Fetal Neonatal Med. 2017 Oct;30(19):2354-2355. doi: 10.1080/14767058.2016.1248396. Epub 2016 Nov 8. No abstract available.

PMID:
27756169
35.

Rare variant association test in family-based sequencing studies.

Wang X, Zhang Z, Morris N, Cai T, Lee S, Wang C, Yu TW, Walsh CA, Lin X.

Brief Bioinform. 2017 Nov 1;18(6):954-961. doi: 10.1093/bib/bbw083.

36.

Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.

Doan RN, Bae BI, Cubelos B, Chang C, Hossain AA, Al-Saad S, Mukaddes NM, Oner O, Al-Saffar M, Balkhy S, Gascon GG; Homozygosity Mapping Consortium for Autism, Nieto M, Walsh CA.

Cell. 2016 Oct 6;167(2):341-354.e12. doi: 10.1016/j.cell.2016.08.071. Epub 2016 Sep 22.

37.

Cell-Type-Specific Alternative Splicing Governs Cell Fate in the Developing Cerebral Cortex.

Zhang X, Chen MH, Wu X, Kodani A, Fan J, Doan R, Ozawa M, Ma J, Yoshida N, Reiter JF, Black DL, Kharchenko PV, Sharp PA, Walsh CA.

Cell. 2016 Aug 25;166(5):1147-1162.e15. doi: 10.1016/j.cell.2016.07.025.

38.

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.

39.

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. 2017 Feb 1;27(2):1670-1685. doi: 10.1093/cercor/bhw009.

40.

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

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

Neuron. 2015 Dec 2;88(5):910-917. doi: 10.1016/j.neuron.2015.11.009.

41.

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.

42.

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):435-440. doi: 10.1002/ajmg.a.37422. Epub 2015 Oct 13.

43.

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.

44.

What the gynaecologist fears most in the pelvis?

Walsh CA.

BJOG. 2016 Dec;123(13):2189. doi: 10.1111/1471-0528.13620. Epub 2015 Sep 28. No abstract available.

45.

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):1215-1233. doi: 10.1016/j.neuron.2015.09.016.

46.

FLNA-Related Periventricular Nodular Heterotopia.

Chen MH, Walsh CA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2002 Oct 8 [updated 2015 Sep 17].

47.

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
48.

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.

49.

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
50.

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.

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