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Publications

Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG.

Paketci C, Edem P, Hiz S, et al. Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG. Brain Dev. 2020. doi:10.1016/j.braindev.2020.04.008

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Castilla-Vallmanya L, Selmer KK, Dimartino C, et al. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genet Med. 2020. doi:10.1038/s41436-020-0792-7

Plasma Metabolomics Profiles were Associated with the Amount and Source of Protein Intake: A Metabolomics Approach within the PREDIMED Study.

Hernández-Alonso P, Becerra-Tomás N, Papandreou C, et al. Plasma Metabolomics Profiles were Associated with the Amount and Source of Protein Intake: A Metabolomics Approach within the PREDIMED Study. Mol Nutr Food Res. 2020:e2000178. doi:10.1002/mnfr.202000178

Evaluating the impact of trauma and PTSD on epigenetic prediction of lifespan and neural integrity.

Katrinli S, Stevens J, Wani AH, et al. Evaluating the impact of trauma and PTSD on epigenetic prediction of lifespan and neural integrity. Neuropsychopharmacology. 2020. doi:10.1038/s41386-020-0700-5

A human lung tumor microenvironment interactome identifies clinically relevant cell-type cross-talk.

Gentles AJ, Hui ABY, Feng W, et al. A human lung tumor microenvironment interactome identifies clinically relevant cell-type cross-talk. Genome Biol. 2020;21(1):107. doi:10.1186/s13059-020-02019-x

MR Imaging Correlates for Molecular and Mutational Analyses in Children with Diffuse Intrinsic Pontine Glioma.

Jaimes C, Vajapeyam S, Brown D, et al. MR Imaging Correlates for Molecular and Mutational Analyses in Children with Diffuse Intrinsic Pontine Glioma. AJNR Am J Neuroradiol. 2020. doi:10.3174/ajnr.A6546

Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy.

Pirruccello JP, Bick A, Wang M, et al. Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy. Nat Commun. 2020;11(1):2254. doi:10.1038/s41467-020-15823-7

Gene Regulation in and out of Equilibrium.

Wong F, Gunawardena J. Gene Regulation in and out of Equilibrium. Annu Rev Biophys. 2020;49:199-226. doi:10.1146/annurev-biophys-121219-081542

BCG vaccination-induced emergency granulopoiesis provides rapid protection from neonatal sepsis.

Brook B, Harbeson DJ, Shannon CP, et al. BCG vaccination-induced emergency granulopoiesis provides rapid protection from neonatal sepsis. Sci Transl Med. 2020;12(542). doi:10.1126/scitranslmed.aax4517

Glycobiology and schizophrenia: a biological hypothesis emerging from genomic research.

Mealer RG, Williams SE, Daly MJ, Scolnick EM, Cummings RD, Smoller JW. Glycobiology and schizophrenia: a biological hypothesis emerging from genomic research. Mol Psychiatry. 2020. doi:10.1038/s41380-020-0753-1