Publications

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2021
Hu, S. et al. Whole exome sequencing analyses reveal gene-microbiota interactions in the context of IBD. Gut 70, 285-296 (2021).
2020
Minardi, R. et al. Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late. Clin Genet 98, 477-485 (2020).
Werling, D. M. et al. Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex. Cell Rep 31, 107489 (2020).
2017
Sofer, T., Schifano, E. D., Christiani, D. C. & Lin, X. Weighted pseudolikelihood for SNP set analysis with multiple secondary outcomes in case-control genetic association studies. Biometrics 73, 1210-1220 (2017).
Kernohan, K. D. et al. Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy. Hum Mutat 38, 611-614 (2017).