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Abnormal dosage of ultraconserved elements is highly disfavored in healthy cells but not cancer cells.

McCole RB, Fonseka CY, Koren A, Wu CT. Abnormal dosage of ultraconserved elements is highly disfavored in healthy cells but not cancer cells. PLoS Genet. 2014;10(10):e1004646. doi:10.1371/journal.pgen.1004646

Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.

Law R, Dixon-Salazar T, Jerber J, et al. Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability. Am J Hum Genet. 2014;95(6):721-8. doi:10.1016/j.ajhg.2014.10.016

No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins.

Murdoch JD, Gupta AR, Sanders SJ, et al. No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins. PLoS Genet. 2015;11(1):e1004852. doi:10.1371/journal.pgen.1004852

Complex selection on intron size in Cryptococcus neoformans.

Hughes SS, Buckley CO, Neafsey DE. Complex selection on intron size in Cryptococcus neoformans. Mol Biol Evol. 2008;25(2):247-53. doi:10.1093/molbev/msm220

Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy.

Lal D, Pernhorst K, Klein KM, et al. Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy. Epilepsia. 2015;56(9):e129-33. doi:10.1111/epi.13076

FermiKit: assembly-based variant calling for Illumina resequencing data.

Li H. FermiKit: assembly-based variant calling for Illumina resequencing data. Bioinformatics. 2015;31(22):3694-6. doi:10.1093/bioinformatics/btv440

Global diversity, population stratification, and selection of human copy-number variation.

Sudmant PH, Mallick S, Nelson BJ, et al. Global diversity, population stratification, and selection of human copy-number variation. Science. 2015;349(6253):aab3761. doi:10.1126/science.aab3761

Sequence Analysis and Characterization of Active Human Alu Subfamilies Based on the 1000 Genomes Pilot Project.

Konkel MK, Walker JA, Hotard AB, et al. Sequence Analysis and Characterization of Active Human Alu Subfamilies Based on the 1000 Genomes Pilot Project. Genome Biol Evol. 2015;7(9):2608-22. doi:10.1093/gbe/evv167

De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.

Yu Y, Yao R, Wang L, et al. De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature. BMC Genomics. 2015;16:701. doi:10.1186/s12864-015-1898-1

Complete genome sequences from three genetically distinct strains reveal high intraspecies genetic diversity in the microsporidian Encephalitozoon cuniculi.

Pombert JF, Xu J, Smith DR, et al. Complete genome sequences from three genetically distinct strains reveal high intraspecies genetic diversity in the microsporidian Encephalitozoon cuniculi. Eukaryot Cell. 2013;12(4):503-11. doi:10.1128/EC.00312-12