Publications

A low-cost paper-based synthetic biology platform for analyzing gut microbiota and host biomarkers.

Takahashi MK, Tan X, Dy AJ, et al. A low-cost paper-based synthetic biology platform for analyzing gut microbiota and host biomarkers. Nat Commun. 2018;9(1):3347. doi:10.1038/s41467-018-05864-4.

STRetch: detecting and discovering pathogenic short tandem repeat expansions.

Dashnow H, Lek M, Phipson B, et al. STRetch: detecting and discovering pathogenic short tandem repeat expansions. Genome Biol. 2018;19(1):121. doi:10.1186/s13059-018-1505-2.

MICU1 imparts the mitochondrial uniporter with the ability to discriminate between Ca and Mn.

Kamer KJ, Sancak Y, Fomina Y, et al. MICU1 imparts the mitochondrial uniporter with the ability to discriminate between Ca and Mn. Proc Natl Acad Sci U S A. 2018;115(34):E7960-E7969. doi:10.1073/pnas.1807811115.

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated exons.

Bolze A, Boisson B, Bosch B, et al. Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated exons. Proc Natl Acad Sci U S A. 2018;115(34):E8007-E8016. doi:10.1073/pnas.1805437115.

Loose ends: almost one in five human genes still have unresolved coding status.

Abascal F, Juan D, Jungreis I, et al. Loose ends: almost one in five human genes still have unresolved coding status. Nucleic Acids Res. 2018;46(14):7070-7084. doi:10.1093/nar/gky587.

The human brainome: network analysis identifies HSPA2 as a novel Alzheimer's disease target.

Petyuk VA, Chang R, Ramirez-Restrepo M, et al. The human brainome: network analysis identifies HSPA2 as a novel Alzheimer's disease target. Brain. 2018. doi:10.1093/brain/awy215.

Selective gene dependencies in MYCN-amplified neuroblastoma include the core transcriptional regulatory circuitry.

Durbin AD, Zimmerman MW, Dharia NV, et al. Selective gene dependencies in MYCN-amplified neuroblastoma include the core transcriptional regulatory circuitry. Nat Genet. 2018. doi:10.1038/s41588-018-0191-z.

Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk.

Castel SE, Cervera A, Mohammadi P, et al. Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk. Nat Genet. 2018. doi:10.1038/s41588-018-0192-y.

Reduced MEK inhibition preserves genomic stability in naive human embryonic stem cells.

Di Stefano B, Ueda M, Sabri S, et al. Reduced MEK inhibition preserves genomic stability in naive human embryonic stem cells. Nat Methods. 2018. doi:10.1038/s41592-018-0104-1.

Ancient DNA from Chalcolithic Israel reveals the role of population mixture in cultural transformation.

Harney E, May H, Shalem D, et al. Ancient DNA from Chalcolithic Israel reveals the role of population mixture in cultural transformation. Nat Commun. 2018;9(1):3336. doi:10.1038/s41467-018-05649-9.