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Publications

Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits.

Ulirsch JC, Nandakumar SK, Wang L, et al. Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits. Cell. 2016;165(6):1530-45. doi:10.1016/j.cell.2016.04.048

"Cat's Cradling" the 3D Genome by the Act of LncRNA Transcription.

Melé M, Rinn JL. "Cat’s Cradling" the 3D Genome by the Act of LncRNA Transcription. Mol Cell. 2016;62(5):657-64. doi:10.1016/j.molcel.2016.05.011

Interplay between Metabolism and Epigenetics: A Nuclear Adaptation to Environmental Changes.

Etchegaray JP, Mostoslavsky R. Interplay between Metabolism and Epigenetics: A Nuclear Adaptation to Environmental Changes. Mol Cell. 2016;62(5):695-711. doi:10.1016/j.molcel.2016.05.029

Genome editing: ӳ��ý keeps CRISPR tools open.

McGuire L. Genome editing: ӳ��ý keeps CRISPR tools open. Nature. 2016;534(7605):37. doi:10.1038/534037a

Proteogenomics connects somatic mutations to signalling in breast cancer.

Mertins P, Mani DR, Ruggles KV, et al. Proteogenomics connects somatic mutations to signalling in breast cancer. Nature. 2016;534(7605):55-62. doi:10.1038/nature18003

Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease.

Dumanski JP, Lambert JC, Rasi C, et al. Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease. Am J Hum Genet. 2016;98(6):1208-19. doi:10.1016/j.ajhg.2016.05.014

SIRT6 Suppresses Pancreatic Cancer through Control of Lin28b.

Kugel S, Sebastián C, Fitamant J, et al. SIRT6 Suppresses Pancreatic Cancer through Control of Lin28b. Cell. 2016;165(6):1401-15. doi:10.1016/j.cell.2016.04.033

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Green RC, Goddard KAB, Jarvik GP, et al. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016;98(6):1051-66. doi:10.1016/j.ajhg.2016.04.011

Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects.

Park JG, Tischfield MA, Nugent AA, et al. Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects. Am J Hum Genet. 2016;98(6):1220-7. doi:10.1016/j.ajhg.2016.03.023

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.

Amendola LM, Jarvik GP, Leo MC, et al. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet. 2016;98(6):1067-76. doi:10.1016/j.ajhg.2016.03.024