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Clinical Cancer Research : an Official Journal of the American Association for Cancer Research|March 2, 2018
Discovery and Validation of Circulating Biomarkers of Colorectal Adenoma by High-Depth Small RNA SequencingBrian S Roberts, Andrew A Hardigan, Dianna E Moore, et al.Annals of Neurology|December 23, 2011
Rare copy number variants are an important cause of epileptic encephalopathiesHeather C Mefford, Simone C Yendle, Cynthia Hsu, et al.Plos Genetics|January 7, 2021
Aberrant regulation of a poison exon caused by a non-coding variant in a mouse model of Scn1a-associated epileptic encephalopathyYuliya Voskobiynyk, Gopal Battu, Stephanie A Felker, et al.Journal of Medical Genetics|June 9, 2017
Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defectsPaul Kruszka, Pranoot Tanpaiboon, Katherine Neas, et al.Epilepsia|June 9, 2016
SCN8A encephalopathy: Research progress and prospectsMiriam H Meisler, Guy Helman, Michael F Hammer, et al.The Journal of Pediatrics|June 20, 2020
The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill ChildrenAmanda S Freed, Sarah V Clowes Candadai, Megan C Sikes, et al.Epilepsia|January 9, 2013
Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsyRikke S Møller, Yvonne G Weber, Laura L Klitten, et al.Human Molecular Genetics|January 14, 2009
Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophyMegan L Landsverk, Elizabeth K Ruzzo, Heather C Mefford, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 23, 2022
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2Abbe Lai, Aubrie Soucy, Christelle Moufawad El Achkar, et al.Human Mutation|October 13, 2018
The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteriaIngo Helbig, Erin Rooney Riggs, Carrie-Anne Barry, et al.Pageof 38