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Epilepsia|April 18, 2007
A multicenter study of BRD2 as a risk factor for juvenile myoclonic epilepsyGianpiero L Cavalleri, Nicole M Walley, Nicole Soranzo, et al.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.Nature Communications|February 19, 2025
Assessing the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 casesJonathan Mitchell, Niedzica Camacho, Patrick Shea, 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.Digestive Diseases and Sciences|May 1, 2012
The association of genetic variants with hepatic steatosis in patients with genotype 1 chronic hepatitis C infectionPaul J Clark, Alexander J Thompson, Qianqian Zhu, 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.Pageof 34