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American Journal of Respiratory and Critical Care Medicine|January 19, 2017
An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary FibrosisSlavé Petrovski, Jamie L Todd, Michael T Durheim, et al.
Genome Research|April 4, 2019
A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALSSahar Gelfman, Sarah Dugger, Cristiane de Araujo Martins Moreno, et al.
Nature|September 18, 2009
Genetic variation in IL28B and spontaneous clearance of hepatitis C virusDavid L Thomas, Chloe L Thio, Maureen P Martin, et al.
Virus Evolution|December 10, 2025
The genetic architecture of HIV-1 virulenceFrançois Blanquart, Chris Wymant, Matthew Hall, et al.
Biorxiv : the Preprint Server for Biology|November 21, 2023
Transcriptomics and chromatin accessibility in multiple African population samplesMarianne K DeGorter, Page C Goddard, Emre Karakoc, et al.
American Journal of Respiratory and Critical Care Medicine|April 13, 2022
Rare and Common Variants in KIF15 Contribute to Genetic Risk of Idiopathic Pulmonary FibrosisDavid Zhang, Gundula Povysil, Philippe H Kobeissy, et al.
American Journal of Human Genetics|August 7, 2012
Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophreniaAnna C Need, Joseph P McEvoy, Massimo Gennarelli, et al.
Scientific Reports|December 6, 2023
The diagnostic yield of exome sequencing in liver diseases from a curated gene panelXiao-Fei Kong, Kelsie Bogyo, Sheena Kapoor, et al.
American Journal of Human Genetics|July 26, 2016
Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic EpilepsyMichael S Hildebrand, Nicole G Griffin, John A Damiano, et al.
The Journal of Clinical Investigation|February 21, 2018
Killer cell immunoglobulin-like receptor 3DL1 variation modifies HLA-B*57 protection against HIV-1Maureen P Martin, Vivek Naranbhai, Patrick R Shea, et al.
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