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Mutations in eIF4ENIF1 are associated with primary ovarian insufficiency.

Kasippillai T, MacArthur DG, Kirby A, et al. Mutations in eIF4ENIF1 are associated with primary ovarian insufficiency. J Clin Endocrinol Metab. 2013;98(9):E1534-9. doi:10.1210/jc.2013-1102

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

Muona M, Berkovic SF, Dibbens LM, et al. A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. Nat Genet. 2015;47(1):39-46. doi:10.1038/ng.3144

Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy.

Nomura A, Tada H, Teramoto R, et al. Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy. J Cardiol. 2016;67(2):133-9. doi:10.1016/j.jjcc.2015.09.003

Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.

Bulman MP, Kusumi K, Frayling TM, et al. Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Nat Genet. 2000;24(4):438-41. doi:10.1038/74307

Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.

Stitziel NO, Fouchier SW, Sjouke B, et al. Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia. Arterioscler Thromb Vasc Biol. 2013;33(12):2909-14. doi:10.1161/ATVBAHA.113.302426

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

Calibrating the Human Mutation Rate via Ancestral Recombination Density in Diploid Genomes.

Lipson M, Loh PR, Sankararaman S, Patterson N, Berger B, Reich D. Calibrating the Human Mutation Rate via Ancestral Recombination Density in Diploid Genomes. PLoS Genet. 2015;11(11):e1005550. doi:10.1371/journal.pgen.1005550

A susceptibility locus for asthma-related traits on chromosome 7 revealed by genome-wide scan in a founder population.

Laitinen T, Daly MJ, Rioux JD, et al. A susceptibility locus for asthma-related traits on chromosome 7 revealed by genome-wide scan in a founder population. Nat Genet. 2001;28(1):87-91. doi:10.1038/88319

Integration of sequence data from a Consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk gene.

Okada Y, Diogo D, Greenberg JD, et al. Integration of sequence data from a Consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk gene. PLoS One. 2014;9(2):e87645. doi:10.1371/journal.pone.0087645

Katanin p80 regulates human cortical development by limiting centriole and cilia number.

Hu WF, Pomp O, Ben-Omran T, et al. Katanin p80 regulates human cortical development by limiting centriole and cilia number. Neuron. 2014;84(6):1240-57. doi:10.1016/j.neuron.2014.12.017