| Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome C Li, JM Brazill, S Liu, C Bello, Y Zhu, M Morimoto, L Cascio, R Pauly, ... Nature communications 8 (1), 1257, 2017 | 84 | 2017 |
| CHD7 expression predicts survival outcomes in patients with resected pancreatic cancer LE Colbert, AV Petrova, SB Fisher, BG Pantazides, MZ Madden, ... Cancer research 74 (10), 2677-2687, 2014 | 73 | 2014 |
| Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder L Cascio, CF Chen, R Pauly, S Srikanth, K Jones, CD Skinner, ... Molecular genetics & genomic medicine 8 (1), e1036, 2020 | 59 | 2020 |
| Insect Innate Immunity Database (IIID): an annotation tool for identifying immune genes in insect genomes RM Brucker, LJ Funkhouser, S Setia, R Pauly, SR Bordenstein Public Library of Science 7 (9), e45125, 2012 | 53 | 2012 |
| Genome-scale network model of metabolism and histone acetylation reveals metabolic dependencies of histone deacetylase inhibitors F Shen, L Boccuto, R Pauly, S Srikanth, S Chandrasekaran Genome biology 20 (1), 49, 2019 | 46 | 2019 |
| DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome LC Schenkel, E Aref-Eshghi, K Rooney, J Kerkhof, MA Levy, H McConkey, ... Clinical epigenetics 13, 1-17, 2021 | 42 | 2021 |
| Farewell to GBM-O: Genomic and transcriptomic profiling of glioblastoma with oligodendroglioma component reveals distinct molecular subgroups BH Hinrichs, S Newman, CL Appin, W Dunn, L Cooper, R Pauly, ... Acta neuropathologica communications 4, 1-9, 2016 | 33 | 2016 |
| Constitutive activation of the PI3K‐AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome YA Zarate, L Boccuto, S Srikanth, R Pauly, E Ocal, T Balmakund, K Hinkle, ... American Journal of Medical Genetics Part A 179 (6), 1047-1052, 2019 | 26 | 2019 |
| Neural tube defects and associated anomalies before and after folic acid fortification JH Dean, R Pauly, RE Stevenson The Journal of Pediatrics 226, 186-194. e4, 2020 | 22 | 2020 |
| A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome … C Abad, MM Cook, L Cao, JR Jones, NR Rao, L Dukes-Rimsky, R Pauly, ... Biology 7 (2), 31, 2018 | 19 | 2018 |
| Autistic disorder: A 20 year chronicle C Skinner, R Pauly, SA Skinner, RJ Schroer, RJ Simensen, HA Taylor, ... Journal of Autism and Developmental Disorders 51, 677-684, 2021 | 14 | 2021 |
| Gene integrated set profile analysis: a context-based approach for inferring biological endpoints J Kowalski, B Dwivedi, S Newman, JM Switchenko, R Pauly, DA Gutman, ... Nucleic acids research 44 (7), e69-e69, 2016 | 12 | 2016 |
| Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome S Srikanth, L Jain, C Zepeda-Mendoza, L Cascio, K Jones, R Pauly, ... PLoS One 16 (7), e0253859, 2021 | 10 | 2021 |
| Circulating tumor DNA sequencing provides comprehensive mutation profiling for pediatric central nervous system tumors ER Bonner, R Harrington, A Eze, M Bornhorst, CN Kline, ... npj precision oncology 6 (1), 63, 2022 | 9 | 2022 |
| Named data networking for genomics data management and integrated workflows C Ogle, D Reddick, C McKnight, T Biggs, R Pauly, SP Ficklin, FA Feltus, ... Frontiers in big Data 4, 582468, 2021 | 9 | 2021 |
| Enrichment of a subset of Neanderthal polymorphisms in autistic probands and siblings R Pauly, L Johnson, FA Feltus, EL Casanova Molecular Psychiatry, 1-10, 2024 | 8 | 2024 |
| Individuals with SATB2-associated syndrome with and without autism have a recognizable metabolic profile and distinctive cellular energy metabolism alterations YA Zarate, JL Örsell, K Bosanko, S Srikanth, L Cascio, R Pauly, L Boccuto Metabolic Brain Disease 36, 1049-1056, 2021 | 6 | 2021 |
| Discovery of eQTL alleles associated with autism spectrum disorder: a case–control study AR Hickman, B Selee, R Pauly, B Husain, Y Hang, FA Feltus Journal of Autism and Developmental Disorders 53 (9), 3595-3612, 2023 | 5 | 2023 |
| Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders JA Cooley Coleman, JM Gass, S Srikanth, R Pauly, CA Ziats, DB Everman, ... Human Molecular Genetics 32 (9), 1457-1465, 2023 | 5 | 2023 |
| New strategies for clinical trials in autism spectrum disorder R Pauly, CA Ziats, L Abenavoli, CE Schwartz, L Boccuto Reviews on Recent Clinical Trials 16 (2), 131-137, 2021 | 3 | 2021 |
