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Academic Pediatrics|April 10, 2020
What Research Questions Should the Next Generation of Birth Cohort Studies Address? An International Delphi Study of ExpertsRuth Harriet Brown, Manuel Eisner, Sara Valdebenito, et al.
HGG Advances|April 25, 2024
A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methodsRachel Y Oh, Ali AlMail, David Cheerie, et al.
Journal of Neurodevelopmental Disorders|February 9, 2019
Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disordersGregory Costain, Susan Walker, Bob Argiropoulos, et al.
Archives of Women'S Mental Health|February 9, 2021
Prenatal attachment: using measurement invariance to test the validity of comparisons across eight culturally diverse countriesSarah Foley, Claire Hughes, Aja Louise Murray, et al.
American Journal of Human Genetics|November 22, 2016
Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5AChanshuai Han, Reem Alkhater, Tawfiq Froukh, et al.
Biorxiv : the Preprint Server for Biology|April 10, 2026
High-dimensional multiomics reveals perturbations to IL-6/IL-6R axis and RUNX3 in CD4+ T cells during third trimester pregnancyJennifer Habel, Thi H O Nguyen, Natasha de Alwis, et al.
Hepatology (Baltimore, Md.)|October 31, 2017
The circulating microbiome signature and inferred functional metagenomics in alcoholic hepatitisPuneet Puri, Suthat Liangpunsakul, Jeffrey E Christensen, et al.
Pediatric Research|September 27, 2022
Pharmacogenetic profiling via genome sequencing in children with medical complexityAmy Pan, Sierra Scodellaro, Tayyaba Khan, et al.
American Journal of Medical Genetics. Part A|June 23, 2021
Genome sequencing for detection of pathogenic deep intronic variation: A clinical case report illustrating opportunities and challengesSusan Walker, Sylvia Lamoureux, Tayyaba Khan, et al.
American Journal of Human Genetics|January 6, 2018
A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence DataBrett Trost, Susan Walker, Zhuozhi Wang, et al.
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