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Publications

Complex and multi-allelic copy number variation in human disease.

Usher CL, McCarroll SA. Complex and multi-allelic copy number variation in human disease. Brief Funct Genomics. 2015;14(5):329-38. doi:10.1093/bfgp/elv028

Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease.

Chopra SS, Leshchiner I, Duzkale H, et al. Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease. Mol Genet Genomic Med. 2015;3(5):413-23. doi:10.1002/mgg3.152

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy.

Leu C, Balestrini S, Maher B, et al. Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy. EBioMedicine. 2015;2(9):1063-70. doi:10.1016/j.ebiom.2015.07.005

Web-based phenotyping for Tourette Syndrome: Reliability of common co-morbid diagnoses.

Darrow SM, Illmann C, Gauvin C, et al. Web-based phenotyping for Tourette Syndrome: Reliability of common co-morbid diagnoses. Psychiatry Res. 2015;228(3):816-25. doi:10.1016/j.psychres.2015.05.017

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

MUCOSAL IMMUNOLOGY. Individual intestinal symbionts induce a distinct population of RORγ⁺ regulatory T cells.

Sefik E, Geva-Zatorsky N, Oh S, et al. MUCOSAL IMMUNOLOGY. Individual intestinal symbionts induce a distinct population of RORγ⁺ regulatory T cells. Science. 2015;349(6251):993-7. doi:10.1126/science.aaa9420

Chemical perturbation of an intrinsically disordered region of TFIID distinguishes two modes of transcription initiation.

Zhang Z, Boskovic Z, Hussain MM, et al. Chemical perturbation of an intrinsically disordered region of TFIID distinguishes two modes of transcription initiation. Elife. 2015;4. doi:10.7554/eLife.07777

Crystal Structure of Staphylococcus aureus Cas9.

Nishimasu H, Cong L, Yan WX, et al. Crystal Structure of Staphylococcus aureus Cas9. Cell. 2015;162(5):1113-26. doi:10.1016/j.cell.2015.08.007

Systematic chromatin state comparison of epigenomes associated with diverse properties including sex and tissue type.

Yen A, Kellis M. Systematic chromatin state comparison of epigenomes associated with diverse properties including sex and tissue type. Nat Commun. 2015;6:7973. doi:10.1038/ncomms8973

Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations.

Hayes G, Urbanek M, Ehrmann DA, et al. Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations. Nat Commun. 2015;6:7502. doi:10.1038/ncomms8502