Untargeted Metabolomics for Autism Spectrum Disorders: Current Status and Future Directions KE Glinton, SH Elsea Frontiers in Psychiatry 10, 2019 | 65 | 2019 |
Review of the phenotypic spectrum associated with haploinsufficiency of MYRF LZ Rossetti, K Glinton, B Yuan, P Liu, N Pillai, E Mizerik, P Magoulas, ... American journal of medical genetics Part A 179 (7), 1376-1382, 2019 | 50 | 2019 |
Comparison of untargeted metabolomic profiling vs traditional metabolic screening to identify inborn errors of metabolism N Liu, J Xiao, C Gijavanekar, KL Pappan, KE Glinton, BJ Shayota, ... JAMA Network Open 4 (7), e2114155-e2114155, 2021 | 46 | 2021 |
Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis JT Alaimo, KE Glinton, N Liu, J Xiao, Y Yang, VR Sutton, SH Elsea Genetics in Medicine 22 (9), 1560-1566, 2020 | 44 | 2020 |
Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling KE Glinton, PJ Benke, MA Lines, MT Geraghty, P Chakraborty, ... Molecular genetics and metabolism 123 (3), 309-316, 2018 | 43 | 2018 |
Poly (N-vinylpyrrolidone)–H 2 O 2 and poly (4-vinylpyridine)–H 2 O 2 complexes: solid H 2 O 2 equivalents for selective oxidation of sulfides to sulfoxides and ketones to gem … GKS Prakash, A Shakhmin, KE Glinton, S Rao, T Mathew, GA Olah Green Chemistry 16 (7), 3616-3622, 2014 | 41 | 2014 |
Solvent effects on the aggregation state of lithium dialkylaminoborohydrides LM Pratt, S Mogali, K Glinton The Journal of Organic Chemistry 68 (17), 6484-6488, 2003 | 24 | 2003 |
TANGO2-related metabolic encephalopathy and arrhythmias SR Lalani, B Graham, L Burrage, YC Lai, F Scaglia, C Soler-Alfonso, ... | 21 | 2018 |
Cardiac crises: cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises CY Miyake, EJ Lay, CM Beach, SR Ceresnak, CM Delauz, TS Howard, ... Heart Rhythm 19 (10), 1673-1681, 2022 | 17 | 2022 |
Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1 KE Glinton, HL Levy, AD Kennedy, KL Pappan, SH Elsea Molecular Genetics and Metabolism Reports 18, 14-18, 2019 | 17 | 2019 |
Natural history of TANGO2 deficiency disorder: baseline assessment of 73 patients CY Miyake, EJ Lay, C Soler-Alfonso, KE Glinton, KM Houck, M Tosur, ... Genetics in Medicine 25 (4), 100352, 2023 | 14 | 2023 |
Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies KE Glinton, ACE Hurst, KM Bowling, I Cristian, D Haynes, ... American Journal of Medical Genetics Part A 185 (5), 1366-1378, 2021 | 13 | 2021 |
KCNA1 gain‐of‐function epileptic encephalopathy treated with 4‐aminopyridine P Müller, DS Takacs, UBS Hedrich, R Coorg, L Masters, KE Glinton, H Dai, ... Annals of Clinical and Translational Neurology 10 (4), 656-663, 2023 | 12 | 2023 |
Poly (4-vinylpyridine)-nitrating mixture complex (PVP-NM): solid nitrating mixture equivalent for safe and efficient aromatic nitration GKS Prakash, L Gurung, KE Glinton, K Belligund, T Mathew, GA Olah Green chemistry 17 (6), 3446-3451, 2015 | 12 | 2015 |
Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension A Birjiniuk, KE Glinton, N Villafranco, S Boyer, J Laufman, E Mizerik, ... American Journal of Medical Genetics Part A 182 (4), 755-761, 2020 | 11 | 2020 |
Thermocontrolled benzylimine–benzaldimine rearrangement over Nafion-H catalysts for efficient entry into α-trifluoromethylbenzylamines GKS Prakash, KE Glinton, C Panja, L Gurung, PT Battamack, B Török, ... Tetrahedron Letters 53 (6), 607-611, 2012 | 10 | 2012 |
Clinical utility of genetic testing in the precision diagnosis and management of pediatric patients with kidney and urinary tract diseases N Bekheirnia, KE Glinton, L Rossetti, J Manor, W Chen, DJ Lamb, ... Kidney360 2 (1), 90-104, 2021 | 9 | 2021 |
Untargeted Metabolomics of Slc13a5 Deficiency Reveal Critical Liver–Brain Axis for Lipid Homeostasis S Milosavljevic, KE Glinton, X Li, C Medeiros, P Gillespie, JR Seavitt, ... Metabolites 12 (4), 351, 2022 | 7 | 2022 |
An innovative medical school curriculum to enhance exposure to genetics and genomics: Updates and outcomes KE Glinton, L Potocki, SU Dhar Genetics in Medicine 24 (3), 722-728, 2022 | 5 | 2022 |
Sudden infant death with dysgenesis of the testes syndrome in a non‐Amish infant: A case report B Slater, K Glinton, H Dai, E Lay, L Karaviti, E Mizerik, CN Murali, ... American Journal of Medical Genetics Part A 182 (11), 2751-2754, 2020 | 5 | 2020 |