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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

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 HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

Ghaoui R, Palmio J, Brewer J, et al. Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy. Neurology. 2016;86(4):391-8. doi:10.1212/WNL.0000000000002324

Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.

Whitman MC, Andrews C, Chan WM, et al. Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. Am J Med Genet A. 2016;170A(2):297-305. doi:10.1002/ajmg.a.37362

Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype.

Vieira NM, Elvers I, Alexander MS, et al. Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype. Cell. 2015;163(5):1204-13. doi:10.1016/j.cell.2015.10.049

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Karaca E, Harel T, Pehlivan D, et al. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Neuron. 2015;88(3):499-513. doi:10.1016/j.neuron.2015.09.048

Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia.

Petryshen TL, Middleton FA, Tahl AR, et al. Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia. Mol Psychiatry. 2005;10(12):1074-88, 1057. doi:10.1038/sj.mp.4001739

Sequence-Level Analysis of the Major European Huntington Disease Haplotype.

Lee JM, Kim KH, Shin A, et al. Sequence-Level Analysis of the Major European Huntington Disease Haplotype. Am J Hum Genet. 2015;97(3):435-44. doi:10.1016/j.ajhg.2015.07.017

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

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