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Items: 1 to 50 of 419

1.

Corrigendum: Genome aging: somatic mutation in the brain links age-related decline with disease and nominates pathogenic mechanisms.

Lodato MA, Walsh CA.

Hum Mol Genet. 2019 Nov 28. pii: ddz286. doi: 10.1093/hmg/ddz286. [Epub ahead of print] No abstract available.

PMID:
31778186
2.

In Memoriam: Frederick Andermann, MD.

Schomer DL, Martin JB, Walsh CA, Andermann ML.

Ann Neurol. 2019 Nov 21. doi: 10.1002/ana.25627. [Epub ahead of print] No abstract available.

PMID:
31749153
3.

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.

Dias CM, Punetha J, Zheng C, Mazaheri N, Rad A, Efthymiou S, Petersen A, Dehghani M, Pehlivan D, Partlow JN, Posey JE, Salpietro V, Gezdirici A, Malamiri RA, Al Menabawy NM, Selim LA, Vahidi Mehrjardi MY, Banu S, Polla DL, Yang E, Rezazadeh Varaghchi J, Mitani T, van Beusekom E, Najafi M, Sedaghat A, Keller-Ramey J, Durham L, Coban-Akdemir Z, Karaca E, Orlova V, Schaeken LLM, Sherafat A, Jhangiani SN, Stanley V, Shariati G, Galehdari H, Gleeson JG, Walsh CA, Lupski JR, Seiradake E, Houlden H, van Bokhoven H, Maroofian R.

Am J Hum Genet. 2019 Nov 7;105(5):1048-1056. doi: 10.1016/j.ajhg.2019.09.025. Epub 2019 Oct 24.

4.

Duplication 2p16 is associated with perisylvian polymicrogyria.

Amrom D, Poduri A, Goldman JS, Dan B, Deconinck N, Pichon B, Nadaf J, Andermann F, Andermann E, Walsh CA, Dobyns WB.

Am J Med Genet A. 2019 Dec;179(12):2343-2356. doi: 10.1002/ajmg.a.61342. Epub 2019 Oct 29.

PMID:
31660690
5.

Genome aging: somatic mutation in the brain links age-related decline with disease and nominates pathogenic mechanisms.

Lodato MA, Walsh CA.

Hum Mol Genet. 2019 Oct 15;28(R2):R197-R206. doi: 10.1093/hmg/ddz191.

PMID:
31578549
6.

The association between medication non-adherence and adverse health outcomes in ageing populations: A systematic review and meta-analysis.

Walsh CA, Cahir C, Tecklenborg S, Byrne C, Culbertson MA, Bennett KE.

Br J Clin Pharmacol. 2019 Nov;85(11):2464-2478. doi: 10.1111/bcp.14075. Epub 2019 Sep 6. Review.

PMID:
31486099
7.

Key considerations for advancing the development and testing of mHealth interventions in adolescent and young adult oncology.

Walsh CA, Rosenberg AR, Lau N, Syrjala KL.

Psychooncology. 2019 Sep 2. doi: 10.1002/pon.5216. [Epub ahead of print] No abstract available.

PMID:
31475768
8.

Recessive gene disruptions in autism spectrum disorder.

Doan RN, Lim ET, De Rubeis S, Betancur C, Cutler DJ, Chiocchetti AG, Overman LM, Soucy A, Goetze S; Autism Sequencing Consortium, Freitag CM, Daly MJ, Walsh CA, Buxbaum JD, Yu TW.

Nat Genet. 2019 Jul;51(7):1092-1098. doi: 10.1038/s41588-019-0433-8. Epub 2019 Jun 17.

PMID:
31209396
9.

SFI1 promotes centriole duplication by recruiting USP9X to stabilize the microcephaly protein STIL.

Kodani A, Moyer T, Chen A, Holland A, Walsh CA, Reiter JF.

J Cell Biol. 2019 Jul 1;218(7):2185-2197. doi: 10.1083/jcb.201803041. Epub 2019 Jun 13.

PMID:
31197030
10.

Association between adherence to antihypertensive medications and health outcomes in middle and older aged community dwelling adults; results from the Irish longitudinal study on ageing.

Walsh CA, Cahir C, Bennett KE.

Eur J Clin Pharmacol. 2019 Sep;75(9):1283-1292. doi: 10.1007/s00228-019-02699-w. Epub 2019 Jun 12.

PMID:
31190134
11.

Linked-read analysis identifies mutations in single-cell DNA-sequencing data.

Bohrson CL, Barton AR, Lodato MA, Rodin RE, Luquette LJ, Viswanadham VV, Gulhan DC, Cortés-Ciriano I, Sherman MA, Kwon M, Coulter ME, Galor A, Walsh CA, Park PJ.

Nat Genet. 2019 Apr;51(4):749-754. doi: 10.1038/s41588-019-0366-2. Epub 2019 Mar 18.

PMID:
30886424
12.

Two Successful Pregnancies after a Previous Cloacal Repair.

Walsh CA.

J Pediatr Adolesc Gynecol. 2019 Jun;32(3):345. doi: 10.1016/j.jpag.2019.01.008. Epub 2019 Feb 4. No abstract available.

PMID:
30731215
13.

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.

14.
15.

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
16.

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.

17.

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

Walsh CA.

Eur J Neurosci. 2019 Apr;49(7):900-908. doi: 10.1111/ejn.14135. Epub 2018 Sep 17. Review.

PMID:
30152010
18.

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.

19.

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.

20.

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.

21.

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
22.

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.

23.

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. Review.

PMID:
29799801
24.

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.

25.

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.

26.

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.

27.

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.

28.

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
29.

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.

30.

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):.

31.

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.

32.

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.

33.

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.

34.

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.

35.

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.

36.

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.

37.

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
38.

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.

39.

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.

40.

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.

41.

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.

42.

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.

43.

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.

44.

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.

45.

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.

46.

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
47.

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.

48.

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.

49.

Transfusion Ethics in a Pediatric Jehovah's Witness Trauma Patient: Simulation Case.

Malkin M, Lenart J, Walsh CA, Woodfin M, Vadi M.

MedEdPORTAL. 2016 Sep 1;12:10450. doi: 10.15766/mep_2374-8265.10450.

50.

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.

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