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Items: 17


Neocortex expansion is linked to size variations in gene families with chemotaxis, cell-cell signalling and immune response functions in mammals.

Castillo-Morales A, Monzón-Sandoval J, de Sousa AA, Urrutia AO, Gutierrez H.

Open Biol. 2016 Oct;6(10). pii: 160132.


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.


Phylogenetic Analysis Supports a Link between DUF1220 Domain Number and Primate Brain Expansion.

Zimmer F, Montgomery SH.

Genome Biol Evol. 2015 Jun 25;7(8):2083-8. doi: 10.1093/gbe/evv122.


Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes.

D'Angelo CS, Varela MC, de Castro CIe, Kim CA, Bertola DR, Lourenço CM, Perez AB, Koiffmann CP.

Mol Cytogenet. 2014 Oct 31;7(1):75. doi: 10.1186/s13039-014-0075-6.


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.


Coherent somatic mutation in autoimmune disease.

Ross KA.

PLoS One. 2014 Jul 2;9(7):e101093. doi: 10.1371/journal.pone.0101093. Review.


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.


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. Erratum in: PLoS Genet. 2014 Apr;10(4):e1004373.


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.


No effect of genome-wide copy number variation on measures of intelligence in a New Zealand birth cohort.

Bagshaw AT, Horwood LJ, Liu Y, Fergusson DM, Sullivan PF, Kennedy MA.

PLoS One. 2013;8(1):e55208. doi: 10.1371/journal.pone.0055208.


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.


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.


Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.

Rosenfeld JA, Traylor RN, Schaefer GB, McPherson EW, Ballif BC, Klopocki E, Mundlos S, Shaffer LG, Aylsworth AS; 1q21.1 Study Group..

Eur J Hum Genet. 2012 Jul;20(7):754-61. doi: 10.1038/ejhg.2012.6.


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.


Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.

Carvalho CM, Zhang F, Lupski JR.

Proc Natl Acad Sci U S A. 2010 Jan 26;107 Suppl 1:1765-71. doi: 10.1073/pnas.0906222107. Review.

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