Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line. Genome Res. 2018 ;28(8):1126-1135..
Comprehensive Characterization of Cancer Driver Genes and Mutations. Cell. 2018 ;173(2):371-385.e18..
A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo. Am J Med Genet A. 2018 ;176(9):1897-1909..
Comprehensive genomic analysis of patients with disorders of cerebral cortical development. Eur J Hum Genet. 2018 ;..
A Comprehensive Pan-Cancer Molecular Study of Gynecologic and Breast Cancers. Cancer Cell. 2018 ;33(4):690-705.e9..
Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice. Exp Eye Res. 2018 ;166:120-130..
Contributions of rare coding variants in hypotension syndrome genes to population blood pressure variation. Medicine (Baltimore). 2018 ;97(33):e11865..
Corrigendum to "Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice" [Exp. Eye Res. 166 (2018) 120-130]. Exp Eye Res. 2018 ;171:119..
DNA methylation age is associated with an altered hemostatic profile in a multiethnic meta-analysis. Blood. 2018 ;132(17):1842-1850..
Earth BioGenome Project: Sequencing life for the future of life. Proc Natl Acad Sci U S A. 2018 ;115(17):4325-4333..
Editorial overview: Insect genomics: Arthropod genomic resources for the 21st century: It only counts if it's in the database!. Curr Opin Insect Sci. 2018 ;25:iv-vii..
Effects of Gender-Specific Differences, Inflammatory Response, and Genetic Variation on the Associations Among Depressive Symptoms and the Risk of Major Adverse Coronary Events in Patients With Acute Coronary Syndrome. Biol Res Nurs. 2018 ;20(2):168-176..
Elucidating the molecular pathogenesis of glioma: integrated germline and somatic profiling of a familial glioma case series. Neuro Oncol. 2018 ;20(12):1625-1633..
Empowering genomic medicine by establishing critical sequencing result data flows: the eMERGE example. J Am Med Inform Assoc. 2018 ;..
An Epigenome-Wide Association Study (EWAS) of Obesity-Related Traits. Am J Epidemiol. 2018 ;..
Expansions of key protein families in the German cockroach highlight the molecular basis of its remarkable success as a global indoor pest. J Exp Zool B Mol Dev Evol. 2018 ;..
Full disclosure: Genome assembly is still hard. PLoS Biol. 2018 ;16(4):e2005894..
Functional Annotation of ESR1 Gene Fusions in Estrogen Receptor-Positive Breast Cancer. Cell Rep. 2018 ;24(6):1434-1444.e7..
Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects. Nat Commun. 2018 ;9(1):4038..
Gene expression profiling and immune cell-type deconvolution highlight robust disease progression and survival markers in multiple cohorts of CTCL patients. Oncoimmunology. 2018 ;7(8):e1467856..
Gene Therapy Rescues Retinal Degeneration in Receptor Expression-Enhancing Protein 6 Mutant Mice. Hum Gene Ther. 2018 ;..
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. Nat Genet. 2018 ;50(10):1412-1425..
Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis. Blood. 2018 ;132(1):89-100..
Genetic mechanisms of immune evasion in colorectal cancer. Cancer Discov. 2018 ;..