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Medrxiv : the Preprint Server for Health Sciences|October 24, 2023
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 EpisignatureChristy W LaFlamme, Cassandra Rastin, Soham Sengupta, et al.Nature Communications|August 6, 2024
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinementChristy W LaFlamme, Cassandra Rastin, Soham Sengupta, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 11, 2023
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disordersFranziska Langhammer, Reza Maroofian, Rueda Badar, et al.Nature Communications|November 10, 2025
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex compositionGhayda M Mirzaa, Keqin Yan, Raissa Relator, et al.Cell|October 17, 2023
Serotonin reduction in post-acute sequelae of viral infectionAndrea C Wong, Ashwarya S Devason, Iboro C Umana, et al.Plos One|June 9, 2017
Obesity, metabolic factors and risk of different histological types of lung cancer: A Mendelian randomization studyRobert Carreras-Torres, Mattias Johansson, Philip C Haycock, et al.Nature|June 21, 2019
Genetic analyses of diverse populations improves discovery for complex traitsGenevieve L Wojcik, Mariaelisa Graff, Katherine K Nishimura, et al.JAMA Neurology|October 31, 2022
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical PracticeDianalee McKnight, Ana Morales, Kathryn E Hatchell, et al.Pageof 87