Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 117

1.

Sturge-Weber Syndrome Patient Registry: Delayed Diagnosis and Poor Seizure Control.

Cho S, Maharathi B, Ball KL, Loeb JA, Pevsner J.

J Pediatr. 2019 Dec;215:158-163.e6. doi: 10.1016/j.jpeds.2019.08.025. Epub 2019 Oct 3.

PMID:
31587863
2.

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.

Guo H, Li Y, Shen L, Wang T, Jia X, Liu L, Xu T, Ou M, Hoekzema K, Wu H, Gillentine MA, Liu C, Ni H, Peng P, Zhao R, Zhang Y, Phornphutkul C, Stegmann APA, Prada CE, Hopkin RJ, Shieh JT, McWalter K, Monaghan KG, van Hasselt PM, van Gassen K, Bai T, Long M, Han L, Quan Y, Chen M, Zhang Y, Li K, Zhang Q, Tan J, Zhu T, Liu Y, Pang N, Peng J, Scott DA, Lalani SR, Azamian M, Mancini GMS, Adams DJ, Kvarnung M, Lindstrand A, Nordgren A, Pevsner J, Osei-Owusu IA, Romano C, Calabrese G, Galesi O, Gecz J, Haan E, Ranells J, Racobaldo M, Nordenskjold M, Madan-Khetarpal S, Sebastian J, Ball S, Zou X, Zhao J, Hu Z, Xia F, Liu P, Rosenfeld JA, de Vries BBA, Bernier RA, Xu ZD, Li H, Xie W, Hufnagel RB, Eichler EE, Xia K.

Sci Adv. 2019 Sep 25;5(9):eaax2166. doi: 10.1126/sciadv.aax2166. eCollection 2019 Sep.

3.

The transcriptome landscape associated with Disrupted-in-Schizophrenia-1 locus impairment in early development and adulthood.

Yang K, Kondo MA, Jaaro-Peled H, Cash-Padgett T, Kano SI, Ishizuka K, Pevsner J, Tomoda T, Sawa A, Niwa M.

Schizophr Res. 2019 Aug;210:149-156. doi: 10.1016/j.schres.2019.05.032. Epub 2019 Jun 13.

PMID:
31204062
4.

Increased Protein Insolubility in Brains From a Subset of Patients With Schizophrenia.

Nucifora LG, MacDonald ML, Lee BJ, Peters ME, Norris AL, Orsburn BC, Yang K, Gleason K, Margolis RL, Pevsner J, Tamminga CA, Sweet RA, Ross CA, Sawa A, Nucifora FC Jr.

Am J Psychiatry. 2019 Sep 1;176(9):730-743. doi: 10.1176/appi.ajp.2019.18070864. Epub 2019 May 6.

PMID:
31055969
5.

Leonardo da Vinci's studies of the brain.

Pevsner J.

Lancet. 2019 Apr 6;393(10179):1465-1472. doi: 10.1016/S0140-6736(19)30302-2. Epub 2019 Apr 4. Review.

PMID:
30967217
6.

Physical and Family History Variables Associated With Neurological and Cognitive Development in Sturge-Weber Syndrome.

Day AM, McCulloch CE, Hammill AM, Juhász C, Lo WD, Pinto AL, Miles DK, Fisher BJ, Ball KL, Wilfong AA, Levin AV, Thau AJ, Comi AM; National Institute of Health Sponsor: Rare Disease Clinical Research Consortium (RDCRN) Brain and Vascular Malformation Consortium (BVMC) SWS Investigator Group, Koenig JI, Lawton MT, Marchuk DA, Moses MA, Freedman SF, Pevsner J.

Pediatr Neurol. 2019 Jul;96:30-36. doi: 10.1016/j.pediatrneurol.2018.12.002. Epub 2018 Dec 20.

PMID:
30853154
7.

Long-read single-molecule maps of the functional methylome.

Sharim H, Grunwald A, Gabrieli T, Michaeli Y, Margalit S, Torchinsky D, Arielly R, Nifker G, Juhasz M, Gularek F, Almalvez M, Dufault B, Chandra SS, Liu A, Bhattacharya S, Chen YW, Vilain E, Wagner KR, Pevsner J, Reifenberger J, Lam ET, Hastie AR, Cao H, Barseghyan H, Weinhold E, Ebenstein Y.

Genome Res. 2019 Apr;29(4):646-656. doi: 10.1101/gr.240739.118. Epub 2019 Mar 7.

8.

Adolescent Δ9-Tetrahydrocannabinol Exposure and Astrocyte-Specific Genetic Vulnerability Converge on Nuclear Factor-κB-Cyclooxygenase-2 Signaling to Impair Memory in Adulthood.

Jouroukhin Y, Zhu X, Shevelkin AV, Hasegawa Y, Abazyan B, Saito A, Pevsner J, Kamiya A, Pletnikov MV.

Biol Psychiatry. 2019 Jun 1;85(11):891-903. doi: 10.1016/j.biopsych.2018.07.024. Epub 2018 Aug 16.

PMID:
30219209
9.

Genetic and genomic stability across lymphoblastoid cell line expansions.

Scheinfeldt LB, Hodges K, Pevsner J, Berlin D, Turan N, Gerry NP.

BMC Res Notes. 2018 Aug 3;11(1):558. doi: 10.1186/s13104-018-3664-3.

10.

Wireless control of cellular function by activation of a novel protein responsive to electromagnetic fields.

Krishnan V, Park SA, Shin SS, Alon L, Tressler CM, Stokes W, Banerjee J, Sorrell ME, Tian Y, Fridman GY, Celnik P, Pevsner J, Guggino WB, Gilad AA, Pelled G.

Sci Rep. 2018 Jun 8;8(1):8764. doi: 10.1038/s41598-018-27087-9.

11.

Deficiency of WARS2, encoding mitochondrial tryptophanyl tRNA synthetase, causes severe infantile onset leukoencephalopathy.

Theisen BE, Rumyantseva A, Cohen JS, Alcaraz WA, Shinde DN, Tang S, Srivastava S, Pevsner J, Trifunovic A, Fatemi A.

Am J Med Genet A. 2017 Sep;173(9):2505-2510. doi: 10.1002/ajmg.a.38339. Epub 2017 Jun 26.

PMID:
28650581
12.

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.

13.

Analysis of differential gene expression mediated by clozapine in human postmortem brains.

Lee BJ, Marchionni L, Andrews CE, Norris AL, Nucifora LG, Wu YC, Wright RA, Pevsner J, Ross CA, Margolis RL, Sawa A, Nucifora FC Jr.

Schizophr Res. 2017 Jul;185:58-66. doi: 10.1016/j.schres.2016.12.017. Epub 2016 Dec 27.

14.

Molecular signatures associated with cognitive deficits in schizophrenia: a study of biopsied olfactory neural epithelium.

Horiuchi Y, Kondo MA, Okada K, Takayanagi Y, Tanaka T, Ho T, Varvaris M, Tajinda K, Hiyama H, Ni K, Colantuoni C, Schretlen D, Cascella NG, Pevsner J, Ishizuka K, Sawa A.

Transl Psychiatry. 2016 Oct 11;6(10):e915. doi: 10.1038/tp.2016.154.

15.

The Contribution of Mosaic Variants to Autism Spectrum Disorder.

Freed D, Pevsner J.

PLoS Genet. 2016 Sep 15;12(9):e1006245. doi: 10.1371/journal.pgen.1006245. eCollection 2016 Sep.

16.

Microarray-Based Phospho-Proteomic Profiling of Complex Biological Systems.

Goodwin CR, Woodard CL, Zhou X, Pan J, Olivi A, Xia S, Bettegowda C, Sciubba DM, Pevsner J, Zhu H, Laterra J.

Transl Oncol. 2016 Apr;9(2):124-129. doi: 10.1016/j.tranon.2016.02.001.

17.

Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior.

Shirley MD, Frelin L, López JS, Jedlicka A, Dziedzic A, Frank-Crawford MA, Silverman W, Hagopian L, Pevsner J.

PLoS One. 2016 Mar 2;11(3):e0149646. doi: 10.1371/journal.pone.0149646. eCollection 2016.

18.

Somatic mosaicism in the human genome.

Freed D, Stevens EL, Pevsner J.

Genes (Basel). 2014 Dec 11;5(4):1064-94. doi: 10.3390/genes5041064. Review.

19.

Haplotype counting by next-generation sequencing for ultrasensitive human DNA detection.

Debeljak M, Freed DN, Welch JA, Haley L, Beierl K, Iglehart BS, Pallavajjala A, Gocke CD, Leffell MS, Lin MT, Pevsner J, Wheelan SJ, Eshleman JR.

J Mol Diagn. 2014 Sep;16(5):495-503. doi: 10.1016/j.jmoldx.2014.04.003. Erratum in: J Mol Diagn. 2015 Nov;17(6):749.

20.

A novel variant in GABRB2 associated with intellectual disability and epilepsy.

Srivastava S, Cohen J, Pevsner J, Aradhya S, McKnight D, Butler E, Johnston M, Fatemi A.

Am J Med Genet A. 2014 Nov;164A(11):2914-21. doi: 10.1002/ajmg.a.36714. Epub 2014 Aug 13.

21.

Olfactory cells via nasal biopsy reflect the developing brain in gene expression profiles: utility and limitation of the surrogate tissues in research for brain disorders.

Horiuchi Y, Kano S, Ishizuka K, Cascella NG, Ishii S, Talbot CC Jr, Jaffe AE, Okano H, Pevsner J, Colantuoni C, Sawa A.

Neurosci Res. 2013 Dec;77(4):247-50. doi: 10.1016/j.neures.2013.09.010. Epub 2013 Oct 11.

22.

A needle in a haystack: Sturge-Weber syndrome gene discovery.

Comi AM, Marchuk DA, Pevsner J.

Pediatr Neurol. 2013 Dec;49(6):391-2. doi: 10.1016/j.pediatrneurol.2013.07.009. Epub 2013 Sep 26. No abstract available.

PMID:
24075845
23.

Sensitive and specific detection of mosaic chromosomal abnormalities using the Parent-of-Origin-based Detection (POD) method.

Baugher JD, Baugher BD, Shirley MD, Pevsner J.

BMC Genomics. 2013 May 31;14:367. doi: 10.1186/1471-2164-14-367.

24.

Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.

Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, North PE, Marchuk DA, Comi AM, Pevsner J.

N Engl J Med. 2013 May 23;368(21):1971-9. doi: 10.1056/NEJMoa1213507. Epub 2013 May 8.

25.

Unique pharmacological actions of atypical neuroleptic quetiapine: possible role in cell cycle/fate control.

Kondo MA, Tajinda K, Colantuoni C, Hiyama H, Seshadri S, Huang B, Pou S, Furukori K, Hookway C, Jaaro-Peled H, Kano SI, Matsuoka N, Harada K, Ni K, Pevsner J, Sawa A.

Transl Psychiatry. 2013 Apr 2;3:e243. doi: 10.1038/tp.2013.19.

26.

Unexpected relationships and inbreeding in HapMap phase III populations.

Stevens EL, Baugher JD, Shirley MD, Frelin LP, Pevsner J.

PLoS One. 2012;7(11):e49575. doi: 10.1371/journal.pone.0049575. Epub 2012 Nov 19.

27.

Chromosomal variation in lymphoblastoid cell lines.

Shirley MD, Baugher JD, Stevens EL, Tang Z, Gerry N, Beiswanger CM, Berlin DS, Pevsner J.

Hum Mutat. 2012 Jul;33(7):1075-86. doi: 10.1002/humu.22062. Epub 2012 Apr 16.

28.

Consanguinity in Centre d'Étude du Polymorphisme Humain (CEPH) pedigrees.

Stevens EL, Heckenberg G, Baugher JD, Roberson ED, Downey TJ, Pevsner J.

Eur J Hum Genet. 2012 Jun;20(6):657-67. doi: 10.1038/ejhg.2011.266. Epub 2012 Jan 25.

29.

Inference of relationships in population data using identity-by-descent and identity-by-state.

Stevens EL, Heckenberg G, Roberson ED, Baugher JD, Downey TJ, Pevsner J.

PLoS Genet. 2011 Sep;7(9):e1002287. doi: 10.1371/journal.pgen.1002287. Epub 2011 Sep 22.

30.

Performance assessment of copy number microarray platforms using a spike-in experiment.

Halper-Stromberg E, Frelin L, Ruczinski I, Scharpf R, Jie C, Carvalho B, Hao H, Hetrick K, Jedlicka A, Dziedzic A, Doheny K, Scott AF, Baylin S, Pevsner J, Spencer F, Irizarry RA.

Bioinformatics. 2011 Apr 15;27(8):1052-60. doi: 10.1093/bioinformatics/btr106.

31.

Genomic analysis of partial 21q monosomies with variable phenotypes.

Roberson ED, Wohler ES, Hoover-Fong JE, Lisi E, Stevens EL, Thomas GH, Leonard J, Hamosh A, Pevsner J.

Eur J Hum Genet. 2011 Feb;19(2):235-8. doi: 10.1038/ejhg.2010.150. Epub 2010 Sep 8.

32.

Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.

Sobreira NL, Cirulli ET, Avramopoulos D, Wohler E, Oswald GL, Stevens EL, Ge D, Shianna KV, Smith JP, Maia JM, Gumbs CE, Pevsner J, Thomas G, Valle D, Hoover-Fong JE, Goldstein DB.

PLoS Genet. 2010 Jun 17;6(6):e1000991. doi: 10.1371/journal.pgen.1000991.

33.

Locations and patterns of meiotic recombination in two-generation pedigrees.

Ting JC, Roberson ED, Currier DG, Pevsner J.

BMC Med Genet. 2009 Sep 17;10:93. doi: 10.1186/1471-2350-10-93.

34.

Visualization of shared genomic regions and meiotic recombination in high-density SNP data.

Roberson ED, Pevsner J.

PLoS One. 2009 Aug 21;4(8):e6711. doi: 10.1371/journal.pone.0006711.

35.

Hidden Markov models for the assessment of chromosomal alterations using high-throughput SNP arrays.

Scharpf RB, Parmigiani G, Pevsner J, Ruczinski I.

Ann Appl Stat. 2008 Jun 1;2(2):687-713.

36.

Analysis of genomic DNA with the UCSC genome browser.

Pevsner J.

Methods Mol Biol. 2009;537:277-301. doi: 10.1007/978-1-59745-251-9_14.

PMID:
19378150
37.

Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function.

Miller ND, Nance MA, Wohler ES, Hoover-Fong JE, Lisi E, Thomas GH, Pevsner J.

Am J Med Genet A. 2009 Feb 15;149A(4):669-80. doi: 10.1002/ajmg.a.32705.

38.

Estimating genome-wide copy number using allele-specific mixture models.

Wang W, Carvalho B, Miller ND, Pevsner J, Chakravarti A, Irizarry RA.

J Comput Biol. 2008 Sep;15(7):857-66. doi: 10.1089/cmb.2007.0148.

39.

Efficient array-based identification of novel cardiac genes through differentiation of mouse ESCs.

Miller RA, Christoforou N, Pevsner J, McCallion AS, Gearhart JD.

PLoS One. 2008 May 14;3(5):e2176. doi: 10.1371/journal.pone.0002176.

40.

DRAGON and DRAGON view: information annotation and visualization tools for large-scale expression data.

Bouton CM, Pevsner J.

Curr Protoc Bioinformatics. 2003 Aug;Chapter 7:Unit 7.4. doi: 10.1002/0471250953.bi0704s02.

PMID:
18428707
41.

DNA methylation signatures within the human brain.

Ladd-Acosta C, Pevsner J, Sabunciyan S, Yolken RH, Webster MJ, Dinkins T, Callinan PA, Fan JB, Potash JB, Feinberg AP.

Am J Hum Genet. 2007 Dec;81(6):1304-15. Epub 2007 Nov 1.

42.

HIF-dependent antitumorigenic effect of antioxidants in vivo.

Gao P, Zhang H, Dinavahi R, Li F, Xiang Y, Raman V, Bhujwalla ZM, Felsher DW, Cheng L, Pevsner J, Lee LA, Semenza GL, Dang CV.

Cancer Cell. 2007 Sep;12(3):230-8.

43.

Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome.

Watkins PA, Maiguel D, Jia Z, Pevsner J.

J Lipid Res. 2007 Dec;48(12):2736-50. Epub 2007 Aug 30.

44.

Removal of cerumen from ear canal using lighted curettes.

Pevsner J.

Am Fam Physician. 2007 Jul 1;76(1):32. No abstract available.

45.

Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio.

Ting JC, Roberson ED, Miller ND, Lysholm-Bernacchi A, Stephan DA, Capone GT, Ruczinski I, Thomas GH, Pevsner J.

Hum Mutat. 2007 Dec;28(12):1225-35.

PMID:
17661425
46.

FXYD1 is an MeCP2 target gene overexpressed in the brains of Rett syndrome patients and Mecp2-null mice.

Deng V, Matagne V, Banine F, Frerking M, Ohliger P, Budden S, Pevsner J, Dissen GA, Sherman LS, Ojeda SR.

Hum Mol Genet. 2007 Mar 15;16(6):640-50. Epub 2007 Feb 19.

PMID:
17309881
47.

SNPchip: R classes and methods for SNP array data.

Scharpf RB, Ting JC, Pevsner J, Ruczinski I.

Bioinformatics. 2007 Mar 1;23(5):627-8. Epub 2007 Jan 4.

PMID:
17204461
48.

Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan.

Ting JC, Ye Y, Thomas GH, Ruczinski I, Pevsner J.

BMC Bioinformatics. 2006 Jan 18;7:25.

49.

Primary and secondary transcriptional effects in the developing human Down syndrome brain and heart.

Mao R, Wang X, Spitznagel EL Jr, Frelin LP, Ting JC, Ding H, Kim JW, Ruczinski I, Downey TJ, Pevsner J.

Genome Biol. 2005;6(13):R107. Epub 2005 Dec 16.

50.

The use of genomic microarrays to study chromosomal abnormalities in mental retardation.

Mao R, Pevsner J.

Ment Retard Dev Disabil Res Rev. 2005;11(4):279-85. Review.

PMID:
16240409

Supplemental Content

Loading ...
Support Center