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A complex interaction of imprinted and maternal-effect genes modifies sex determination in Odd Sex (Ods) mice.

Poirier C, Qin Y, Adams CP, et al. A complex interaction of imprinted and maternal-effect genes modifies sex determination in Odd Sex (Ods) mice. Genetics. 2004;168(3):1557-62. doi:10.1534/genetics.104.032177

Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration.

Yu Y, Triebwasser MP, Wong EKS, et al. Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration. Hum Mol Genet. 2014;23(19):5283-93. doi:10.1093/hmg/ddu226

Targeted resequencing of the pericentromere of chromosome 2 linked to constitutional delay of growth and puberty.

Cousminer DL, Leinonen JT, Sarin AP, et al. Targeted resequencing of the pericentromere of chromosome 2 linked to constitutional delay of growth and puberty. PLoS One. 2015;10(6):e0128524. doi:10.1371/journal.pone.0128524

A genetic linkage map of the human genome.

Donis-Keller H, Green P, Helms C, et al. A genetic linkage map of the human genome. Cell. 1987;51(2):319-37.

Support for involvement of neuregulin 1 in schizophrenia pathophysiology.

Petryshen TL, Middleton FA, Kirby A, et al. Support for involvement of neuregulin 1 in schizophrenia pathophysiology. Mol Psychiatry. 2005;10(4):366-74, 328. doi:10.1038/sj.mp.4001608

Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.

Menezes MP, Waddell L, Lenk GM, et al. Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. Neuromuscul Disord. 2014;24(8):666-70. doi:10.1016/j.nmd.2014.04.010

Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome.

Karaca E, Yuregir OO, Bozdogan ST, et al. Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. Am J Med Genet A. 2015;167A(11):2795-9. doi:10.1002/ajmg.a.37263

The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping.

Hästbacka J, de la Chapelle A, Mahtani MM, et al. The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell. 1994;78(6):1073-87.

Genomewide search and association studies in a Finnish celiac disease population: Identification of a novel locus and replication of the HLA and CTLA4 loci.

Rioux JD, Karinen H, Kocher K, et al. Genomewide search and association studies in a Finnish celiac disease population: Identification of a novel locus and replication of the HLA and CTLA4 loci. Am J Med Genet A. 2004;130A(4):345-50. doi:10.1002/ajmg.a.30072

Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families.

Blumenthal I, Ragavendran A, Erdin S, et al. Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families. Am J Hum Genet. 2014;94(6):870-83. doi:10.1016/j.ajhg.2014.05.004