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Publications

LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.

Schmid CM, Gregor A, Costain G, et al. LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. Genetics in medicine : official journal of the American College of Medical Genetics. 2023:100839. doi:10.1016/j.gim.2023.100839

Different clinical features in Malawian outpatients presenting with COVID-19 prior to and during Omicron variant dominance: A prospective observational study.

Chibwana MG, Thole HW, Anscombe C, et al. Different clinical features in Malawian outpatients presenting with COVID-19 prior to and during Omicron variant dominance: A prospective observational study. PLOS global public health. 2023;3(3):e0001575. doi:10.1371/journal.pgph.0001575

Flavonoid intake and survival after diagnosis of colorectal cancer: a prospective study in 2 US cohorts.

Shi S, Wang K, Zhong R, et al. Flavonoid intake and survival after diagnosis of colorectal cancer: a prospective study in 2 US cohorts. The American journal of clinical nutrition. 2023. doi:10.1016/j.ajcnut.2023.03.026

Author Correction: Molecular bottlebrush prodrugs as mono- and triplex combination therapies for multiple myeloma.

Detappe A, Nguyen HVT, Jiang Y, et al. Author Correction: Molecular bottlebrush prodrugs as mono- and triplex combination therapies for multiple myeloma. Nature nanotechnology. 2023;18(4):419. doi:10.1038/s41565-023-01345-y

On the limits of fitting complex models of population history to -statistics.

Maier R, Flegontov P, Flegontova O, Isildak U, Changmai P, Reich D. On the limits of fitting complex models of population history to -statistics. eLife. 2023;12. doi:10.7554/eLife.85492

The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits.

Costanzo MC, von Grotthuss M, Massung J, et al. The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits. Cell metabolism. 2023;35(4):695-710.e6. doi:10.1016/j.cmet.2023.03.001

Probe-based bacterial single-cell RNA sequencing predicts toxin regulation.

McNulty R, Sritharan D, Pahng SH, et al. Probe-based bacterial single-cell RNA sequencing predicts toxin regulation. Nature microbiology. 2023;8(5):934-945. doi:10.1038/s41564-023-01348-4

Disease-specific differences in gene expression, mitochondrial function and mitochondria-endoplasmic reticulum interactions in iPSC-derived cerebral organoids and cortical neurons in schizophrenia and bipolar disorder.

Kathuria A, Lopez-Lengowski K, McPhie D, Cohen BM, Karmacharya R. Disease-specific differences in gene expression, mitochondrial function and mitochondria-endoplasmic reticulum interactions in iPSC-derived cerebral organoids and cortical neurons in schizophrenia and bipolar disorder. Discover mental health. 2023;3(1):8. doi:10.1007/s44192-023-00031-8

Uncovering a novel role of focal adhesion and interferon-gamma in cellular rejection of kidney allografts at single cell resolution.

Halawi A, Kurdi ABE, Vernon KA, et al. Uncovering a novel role of focal adhesion and interferon-gamma in cellular rejection of kidney allografts at single cell resolution. Frontiers in immunology. 2023;14:1139358. doi:10.3389/fimmu.2023.1139358

NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-Space: Reaching out to Clinicians.

Hall JL, Honeycutt S, Gonzalez N, et al. NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-Space: Reaching out to Clinicians. Circulation. Genomic and precision medicine. 2023:e003936. doi:10.1161/CIRCGEN.122.003936