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Items: 1 to 50 of 88

1.

Paired involvement of human-specific Olduvai domains and NOTCH2NL genes in human brain evolution.

Fiddes IT, Pollen AA, Davis JM, Sikela JM.

Hum Genet. 2019 Jul;138(7):715-721. doi: 10.1007/s00439-019-02018-4. Epub 2019 May 13.

2.

A Third Linear Association Between Olduvai (DUF1220) Copy Number and Severity of the Classic Symptoms of Inherited Autism.

Davis JM, Heft I, Scherer SW, Sikela JM.

Am J Psychiatry. 2019 Aug 1;176(8):643-650. doi: 10.1176/appi.ajp.2018.18080993. Epub 2019 Feb 15.

PMID:
30764650
3.

Changing the name of the NBPF/DUF1220 domain to the Olduvai domain.

Sikela JM, van Roy F.

Version 2. F1000Res. 2017 Dec 28 [revised 2018 Jan 1];6:2185. doi: 10.12688/f1000research.13586.2. eCollection 2017.

4.

Genomic trade-offs: are autism and schizophrenia the steep price of the human brain?

Sikela JM, Searles Quick VB.

Hum Genet. 2018 Jan;137(1):1-13. doi: 10.1007/s00439-017-1865-9. Epub 2018 Jan 15.

5.

High resolution measurement of DUF1220 domain copy number from whole genome sequence data.

Astling DP, Heft IE, Jones KL, Sikela JM.

BMC Genomics. 2017 Aug 14;18(1):614. doi: 10.1186/s12864-017-3976-z.

6.

DUF1220 copy number is associated with schizophrenia risk and severity: implications for understanding autism and schizophrenia as related diseases.

Quick VB, Davis JM, Olincy A, Sikela JM.

Transl Psychiatry. 2016 Feb 9;6:e735. doi: 10.1038/tp.2016.11. No abstract available.

7.

DUF1220 copy number is associated with schizophrenia risk and severity: implications for understanding autism and schizophrenia as related diseases.

Searles Quick VB, Davis JM, Olincy A, Sikela JM.

Transl Psychiatry. 2015 Dec 15;5:e697. doi: 10.1038/tp.2015.192. Erratum in: Transl Psychiatry. 2016;6:e735.

8.

Replicated linear association between DUF1220 copy number and severity of social impairment in autism.

Davis JM, Searles Quick VB, Sikela JM.

Hum Genet. 2015 Jun;134(6):569-75. doi: 10.1007/s00439-015-1537-6. Epub 2015 Mar 11.

9.

Human evolutionary genomics and the search for the genes that made us human.

Sikela JM.

Pac Symp Biocomput. 2015:479-81. No abstract available.

10.

Generation of mice lacking DUF1220 protein domains: effects on fecundity and hyperactivity.

Keeney JG, O'Bleness MS, Anderson N, Davis JM, Arevalo N, Busquet N, Chick W, Rozman J, Hölter SM, Garrett L, Horsch M; German Mouse Clinic Consortium, Beckers J, Wurst W, Klingenspor M, Restrepo D, de Angelis MH, Sikela JM.

Mamm Genome. 2015 Feb;26(1-2):33-42. doi: 10.1007/s00335-014-9545-8. Epub 2014 Oct 12.

11.

DUF1220 copy number is linearly associated with increased cognitive function as measured by total IQ and mathematical aptitude scores.

Davis JM, Searles VB, Anderson N, Keeney J, Raznahan A, Horwood LJ, Fergusson DM, Kennedy MA, Giedd J, Sikela JM.

Hum Genet. 2015 Jan;134(1):67-75. doi: 10.1007/s00439-014-1489-2. Epub 2014 Oct 7.

12.

Gibbon genome and the fast karyotype evolution of small apes.

Carbone L, Harris RA, Gnerre S, Veeramah KR, Lorente-Galdos B, Huddleston J, Meyer TJ, Herrero J, Roos C, Aken B, Anaclerio F, Archidiacono N, Baker C, Barrell D, Batzer MA, Beal K, Blancher A, Bohrson CL, Brameier M, Campbell MS, Capozzi O, Casola C, Chiatante G, Cree A, Damert A, de Jong PJ, Dumas L, Fernandez-Callejo M, Flicek P, Fuchs NV, Gut I, Gut M, Hahn MW, Hernandez-Rodriguez J, Hillier LW, Hubley R, Ianc B, Izsvák Z, Jablonski NG, Johnstone LM, Karimpour-Fard A, Konkel MK, Kostka D, Lazar NH, Lee SL, Lewis LR, Liu Y, Locke DP, Mallick S, Mendez FL, Muffato M, Nazareth LV, Nevonen KA, O'Bleness M, Ochis C, Odom DT, Pollard KS, Quilez J, Reich D, Rocchi M, Schumann GG, Searle S, Sikela JM, Skollar G, Smit A, Sonmez K, ten Hallers B, Terhune E, Thomas GW, Ullmer B, Ventura M, Walker JA, Wall JD, Walter L, Ward MC, Wheelan SJ, Whelan CW, White S, Wilhelm LJ, Woerner AE, Yandell M, Zhu B, Hammer MF, Marques-Bonet T, Eichler EE, Fulton L, Fronick C, Muzny DM, Warren WC, Worley KC, Rogers J, Wilson RK, Gibbs RA.

Nature. 2014 Sep 11;513(7517):195-201. doi: 10.1038/nature13679.

13.

Finding and mapping new genes faster than ever: revisited.

Sikela JM.

Genetics. 2014 Aug;197(4):1063-7. doi: 10.1534/genetics.114.165373.

14.

The case for DUF1220 domain dosage as a primary contributor to anthropoid brain expansion.

Keeney JG, Dumas L, Sikela JM.

Front Hum Neurosci. 2014 Jun 24;8:427. doi: 10.3389/fnhum.2014.00427. eCollection 2014.

15.

DUF1220 protein domains drive proliferation in human neural stem cells and are associated with increased cortical volume in anthropoid primates.

Keeney JG, Davis JM, Siegenthaler J, Post MD, Nielsen BS, Hopkins WD, Sikela JM.

Brain Struct Funct. 2015 Sep;220(5):3053-60. doi: 10.1007/s00429-014-0814-9. Epub 2014 Jun 25.

16.

Finished sequence and assembly of the DUF1220-rich 1q21 region using a haploid human genome.

O'Bleness M, Searles VB, Dickens CM, Astling D, Albracht D, Mak AC, Lai YY, Lin C, Chu C, Graves T, Kwok PY, Wilson RK, Sikela JM.

BMC Genomics. 2014 May 20;15:387. doi: 10.1186/1471-2164-15-387.

17.

DUF1220 dosage is linearly associated with increasing severity of the three primary symptoms of autism.

Davis JM, Searles VB, Anderson N, Keeney J, Dumas L, Sikela JM.

PLoS Genet. 2014 Mar 20;10(3):e1004241. doi: 10.1371/journal.pgen.1004241. eCollection 2014 Mar. Erratum in: PLoS Genet. 2014 Apr;10(4):e1004373.

18.

Exome sequencing and arrayCGH detection of gene sequence and copy number variation between ILS and ISS mouse strains.

Dumas L, Dickens CM, Anderson N, Davis J, Bennett B, Radcliffe RA, Sikela JM.

Mamm Genome. 2014 Jun;25(5-6):235-43. doi: 10.1007/s00335-014-9502-6. Epub 2014 Feb 20.

19.

Mode of genetic inheritance modifies the association of head circumference and autism-related symptoms: a cross-sectional study.

Davis JM, Keeney JG, Sikela JM, Hepburn S.

PLoS One. 2013 Sep 18;8(9):e74940. doi: 10.1371/journal.pone.0074940. eCollection 2013.

20.

Evolution of genetic and genomic features unique to the human lineage.

O'Bleness M, Searles VB, Varki A, Gagneux P, Sikela JM.

Nat Rev Genet. 2012 Dec;13(12):853-66. doi: 10.1038/nrg3336. Review.

21.

Evolutionary history and genome organization of DUF1220 protein domains.

O'Bleness MS, Dickens CM, Dumas LJ, Kehrer-Sawatzki H, Wyckoff GJ, Sikela JM.

G3 (Bethesda). 2012 Sep;2(9):977-86. doi: 10.1534/g3.112.003061. Epub 2012 Sep 1.

22.

DUF1220-domain copy number implicated in human brain-size pathology and evolution.

Dumas LJ, O'Bleness MS, Davis JM, Dickens CM, Anderson N, Keeney JG, Jackson J, Sikela M, Raznahan A, Giedd J, Rapoport J, Nagamani SS, Erez A, Brunetti-Pierri N, Sugalski R, Lupski JR, Fingerlin T, Cheung SW, Sikela JM.

Am J Hum Genet. 2012 Sep 7;91(3):444-54. doi: 10.1016/j.ajhg.2012.07.016. Epub 2012 Aug 16.

23.

A survey of analysis software for array-comparative genomic hybridisation studies to detect copy number variation.

Karimpour-Fard A, Dumas L, Phang T, Sikela JM, Hunter LE.

Hum Genomics. 2010 Aug;4(6):421-7. Review.

24.

The ethics of using transgenic non-human primates to study what makes us human.

Coors ME, Glover JJ, Juengst ET, Sikela JM.

Nat Rev Genet. 2010 Sep;11(9):658-62. doi: 10.1038/nrg2864. Review.

25.

DUF1220 domains, cognitive disease, and human brain evolution.

Dumas L, Sikela JM.

Cold Spring Harb Symp Quant Biol. 2009;74:375-82. doi: 10.1101/sqb.2009.74.025. Epub 2009 Oct 22. Review.

26.

Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial/digeorge syndrome.

Babcock M, Yatsenko S, Hopkins J, Brenton M, Cao Q, de Jong P, Stankiewicz P, Lupski JR, Sikela JM, Morrow BE.

Hum Mol Genet. 2007 Nov 1;16(21):2560-71. Epub 2007 Aug 3.

PMID:
17675367
27.

Gene copy number variation spanning 60 million years of human and primate evolution.

Dumas L, Kim YH, Karimpour-Fard A, Cox M, Hopkins J, Pollack JR, Sikela JM.

Genome Res. 2007 Sep;17(9):1266-77. Epub 2007 Jul 31.

28.

Evolutionary and biomedical insights from the rhesus macaque genome.

Rhesus Macaque Genome Sequencing and Analysis Consortium, Gibbs RA, Rogers J, Katze MG, Bumgarner R, Weinstock GM, Mardis ER, Remington KA, Strausberg RL, Venter JC, Wilson RK, Batzer MA, Bustamante CD, Eichler EE, Hahn MW, Hardison RC, Makova KD, Miller W, Milosavljevic A, Palermo RE, Siepel A, Sikela JM, Attaway T, Bell S, Bernard KE, Buhay CJ, Chandrabose MN, Dao M, Davis C, Delehaunty KD, Ding Y, Dinh HH, Dugan-Rocha S, Fulton LA, Gabisi RA, Garner TT, Godfrey J, Hawes AC, Hernandez J, Hines S, Holder M, Hume J, Jhangiani SN, Joshi V, Khan ZM, Kirkness EF, Cree A, Fowler RG, Lee S, Lewis LR, Li Z, Liu YS, Moore SM, Muzny D, Nazareth LV, Ngo DN, Okwuonu GO, Pai G, Parker D, Paul HA, Pfannkoch C, Pohl CS, Rogers YH, Ruiz SJ, Sabo A, Santibanez J, Schneider BW, Smith SM, Sodergren E, Svatek AF, Utterback TR, Vattathil S, Warren W, White CS, Chinwalla AT, Feng Y, Halpern AL, Hillier LW, Huang X, Minx P, Nelson JO, Pepin KH, Qin X, Sutton GG, Venter E, Walenz BP, Wallis JW, Worley KC, Yang SP, Jones SM, Marra MA, Rocchi M, Schein JE, Baertsch R, Clarke L, Csürös M, Glasscock J, Harris RA, Havlak P, Jackson AR, Jiang H, Liu Y, Messina DN, Shen Y, Song HX, Wylie T, Zhang L, Birney E, Han K, Konkel MK, Lee J, Smit AF, Ullmer B, Wang H, Xing J, Burhans R, Cheng Z, Karro JE, Ma J, Raney B, She X, Cox MJ, Demuth JP, Dumas LJ, Han SG, Hopkins J, Karimpour-Fard A, Kim YH, Pollack JR, Vinar T, Addo-Quaye C, Degenhardt J, Denby A, Hubisz MJ, Indap A, Kosiol C, Lahn BT, Lawson HA, Marklein A, Nielsen R, Vallender EJ, Clark AG, Ferguson B, Hernandez RD, Hirani K, Kehrer-Sawatzki H, Kolb J, Patil S, Pu LL, Ren Y, Smith DG, Wheeler DA, Schenck I, Ball EV, Chen R, Cooper DN, Giardine B, Hsu F, Kent WJ, Lesk A, Nelson DL, O'brien WE, Prüfer K, Stenson PD, Wallace JC, Ke H, Liu XM, Wang P, Xiang AP, Yang F, Barber GP, Haussler D, Karolchik D, Kern AD, Kuhn RM, Smith KE, Zwieg AS.

Science. 2007 Apr 13;316(5822):222-34.

29.

Human lineage-specific amplification, selection, and neuronal expression of DUF1220 domains.

Popesco MC, Maclaren EJ, Hopkins J, Dumas L, Cox M, Meltesen L, McGavran L, Wyckoff GJ, Sikela JM.

Science. 2006 Sep 1;313(5791):1304-7.

31.

DNA microarray and proteomic strategies for understanding alcohol action.

Sikela JM, Maclaren EJ, Kim Y, Karimpour-Fard A, Cai WW, Pollack J, Hitzemann R, Belknap J, McWeeney S, Kerns RT, Downing C, Johnson TE, Grant KJ, Tabakoff B, Hoffman P, Wu CC, Miles MF.

Alcohol Clin Exp Res. 2006 Apr;30(4):700-8.

32.

The human homologue of the RNA polymerase II-associated factor 1 (hPaf1), localized on the 19q13 amplicon, is associated with tumorigenesis.

Moniaux N, Nemos C, Schmied BM, Chauhan SC, Deb S, Morikane K, Choudhury A, Vanlith M, Sutherlin M, Sikela JM, Hollingsworth MA, Batra SK.

Oncogene. 2006 Jun 1;25(23):3247-57. Epub 2006 Feb 20.

PMID:
16491129
33.

Expression profiling identifies novel candidate genes for ethanol sensitivity QTLs.

MacLaren EJ, Bennett B, Johnson TE, Sikela JM.

Mamm Genome. 2006 Feb;17(2):147-56. Epub 2006 Feb 7.

34.

Norepinephrine transporter: a candidate gene for initial ethanol sensitivity in inbred long-sleep and short-sleep mice.

Haughey HM, Kaiser AL, Johnson TE, Bennett B, Sikela JM, Zahniser NR.

Alcohol Clin Exp Res. 2005 Oct;29(10):1759-68.

PMID:
16269905
35.
36.

Ethanol-responsive brain region expression networks: implications for behavioral responses to acute ethanol in DBA/2J versus C57BL/6J mice.

Kerns RT, Ravindranathan A, Hassan S, Cage MP, York T, Sikela JM, Williams RW, Miles MF.

J Neurosci. 2005 Mar 2;25(9):2255-66.

37.

Lineage-specific gene duplication and loss in human and great ape evolution.

Fortna A, Kim Y, MacLaren E, Marshall K, Hahn G, Meltesen L, Brenton M, Hink R, Burgers S, Hernandez-Boussard T, Karimpour-Fard A, Glueck D, McGavran L, Berry R, Pollack J, Sikela JM.

PLoS Biol. 2004 Jul;2(7):E207. Epub 2004 Jul 13.

38.

The nature and identification of quantitative trait loci: a community's view.

Abiola O, Angel JM, Avner P, Bachmanov AA, Belknap JK, Bennett B, Blankenhorn EP, Blizard DA, Bolivar V, Brockmann GA, Buck KJ, Bureau JF, Casley WL, Chesler EJ, Cheverud JM, Churchill GA, Cook M, Crabbe JC, Crusio WE, Darvasi A, de Haan G, Dermant P, Doerge RW, Elliot RW, Farber CR, Flaherty L, Flint J, Gershenfeld H, Gibson JP, Gu J, Gu W, Himmelbauer H, Hitzemann R, Hsu HC, Hunter K, Iraqi FF, Jansen RC, Johnson TE, Jones BC, Kempermann G, Lammert F, Lu L, Manly KF, Matthews DB, Medrano JF, Mehrabian M, Mittlemann G, Mock BA, Mogil JS, Montagutelli X, Morahan G, Mountz JD, Nagase H, Nowakowski RS, O'Hara BF, Osadchuk AV, Paigen B, Palmer AA, Peirce JL, Pomp D, Rosemann M, Rosen GD, Schalkwyk LC, Seltzer Z, Settle S, Shimomura K, Shou S, Sikela JM, Siracusa LD, Spearow JL, Teuscher C, Threadgill DW, Toth LA, Toye AA, Vadasz C, Van Zant G, Wakeland E, Williams RW, Zhang HG, Zou F; Complex Trait Consortium.

Nat Rev Genet. 2003 Nov;4(11):911-6. Review.

39.

Human alcoholism studies of genes identified through mouse quantitative trait locus analysis.

Ehringer MA, Thompson J, Conroy O, Goldman D, Smith TL, Schuckit MA, Sikela JM.

Addict Biol. 2002 Oct;7(4):365-71.

PMID:
14578011
40.

Investigation of DUSP8 and CALCA in alcohol dependence.

Hink RL, Hokanson JE, Shah I, Long JC, Goldman D, Sikela JM.

Addict Biol. 2003 Sep;8(3):305-12.

PMID:
13129832
41.

Genomic approaches to the genetics of alcoholism.

Ehringer MA, Sikela JM.

Alcohol Res Health. 2002;26(3):181-92.

42.

Variants of kappa-opioid receptor gene and mRNA in alcohol-preferring and alcohol-avoiding mice.

Saito M, Ehringer MA, Toth R, Oros M, Szakall I, Sikela JM, Vadasz C.

Alcohol. 2003 Jan;29(1):39-49.

PMID:
12657375
43.

In silico discovery of gene-coding variants in murine quantitative trait loci using strain-specific genome sequence databases.

Marshall KE, Godden EL, Yang F, Burgers S, Buck KJ, Sikela JM.

Genome Biol. 2002;3(12):RESEARCH0078. Epub 2002 Nov 27.

44.

Fine mapping of polymorphic alcohol-related quantitative trait loci candidate genes using interval-specific congenic recombinant mice.

Ehringer MA, Thompson J, Conroy O, Yang F, Hink R, Bennett B, Johnson TE, Sikela JM.

Alcohol Clin Exp Res. 2002 Nov;26(11):1603-8.

PMID:
12436047
45.

Quantitative trait loci affecting initial sensitivity and acute functional tolerance to ethanol-induced ataxia and brain cAMP signaling in BXD recombinant inbred mice.

Kirstein SL, Davidson KL, Ehringer MA, Sikela JM, Erwin VG, Tabakoff B.

J Pharmacol Exp Ther. 2002 Sep;302(3):1238-45.

PMID:
12183685
46.
47.

High-throughput sequence identification of gene coding variants within alcohol-related QTLs.

Ehringer MA, Thompson J, Conroy O, Xu Y, Yang F, Canniff J, Beeson M, Gordon L, Bennett B, Johnson TE, Sikela JM.

Mamm Genome. 2001 Aug;12(8):657-63.

PMID:
11471062
48.
49.

A physical map of 30,000 human genes.

Deloukas P, Schuler GD, Gyapay G, Beasley EM, Soderlund C, Rodriguez-Tomé P, Hui L, Matise TC, McKusick KB, Beckmann JS, Bentolila S, Bihoreau M, Birren BB, Browne J, Butler A, Castle AB, Chiannilkulchai N, Clee C, Day PJ, Dehejia A, Dibling T, Drouot N, Duprat S, Fizames C, Fox S, Gelling S, Green L, Harrison P, Hocking R, Holloway E, Hunt S, Keil S, Lijnzaad P, Louis-Dit-Sully C, Ma J, Mendis A, Miller J, Morissette J, Muselet D, Nusbaum HC, Peck A, Rozen S, Simon D, Slonim DK, Staples R, Stein LD, Stewart EA, Suchard MA, Thangarajah T, Vega-Czarny N, Webber C, Wu X, Hudson J, Auffray C, Nomura N, Sikela JM, Polymeropoulos MH, James MR, Lander ES, Hudson TJ, Myers RM, Cox DR, Weissenbach J, Boguski MS, Bentley DR.

Science. 1998 Oct 23;282(5389):744-6.

50.

Comparison of fluorescent genotyping methods.

Johannes M, Geyer DD, Berry R, Walter NA, Sikela JM, Bateman JB.

Anal Biochem. 1998 Sep 10;262(2):193-5. No abstract available.

PMID:
9750132

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