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Items: 1 to 20 of 62


A proposal to change the name of the NBPF/DUF1220 domain to the Olduvai domain.

Sikela JM, van Roy F.

F1000Res. 2017 Dec 28;6:2185. doi: 10.12688/f1000research.13586.1. eCollection 2017.


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.


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.


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.


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.


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

Sikela JM.

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


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.


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.


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.


Finding and mapping new genes faster than ever: revisited.

Sikela JM.

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


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.

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