Loss-of-function and gain-of-function mutations in KCNQ5 cause intellectual disability or epileptic encephalopathy A Lehman, S Thouta, GMS Mancini, S Naidu, M van Slegtenhorst, ... The American Journal of Human Genetics 101 (1), 65-74, 2017 | 108 | 2017 |
DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study J Trinh, EK Gustavsson, C Vilariño-Güell, S Bortnick, J Latourelle, ... The Lancet Neurology 15 (12), 1248-1256, 2016 | 85 | 2016 |
Diagnostic yield and treatment impact of targeted exome sequencing in early-onset epilepsy M Demos, I Guella, C DeGuzman, MB McKenzie, SE Buerki, DM Evans, ... Frontiers in neurology 10, 434, 2019 | 80 | 2019 |
Overlap of expression quantitative trait loci (eQTL) in human brain and blood M McKenzie, AK Henders, A Caracella, NR Wray, JE Powell BMC medical genomics 7, 1-11, 2014 | 71 | 2014 |
De novo mutations in YWHAG cause early-onset epilepsy I Guella, MB McKenzie, DM Evans, SE Buerki, EB Toyota, MI Van Allen, ... The American Journal of Human Genetics 101 (2), 300-310, 2017 | 65 | 2017 |
De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy I Guella, L Huh, MB McKenzie, EB Toyota, EM Bebin, ML Thompson, ... Neurology: Genetics 2 (6), e120, 2016 | 34 | 2016 |
Genetic identification in early onset parkinsonism among Norwegian patients EK Gustavsson, J Trinh, M McKenzie, S Bortnick, MS Petersen, MJ Farrer, ... Movement Disorders Clinical Practice 4 (4), 499-508, 2017 | 28 | 2017 |
An infant with epilepsy and recurrent hemiplegia due to compound heterozygous variants in ATP1A2 C Wilbur, SE Buerki, I Guella, EB Toyota, DM Evans, MB McKenzie, ... Pediatric neurology 75, 87-90, 2017 | 21 | 2017 |
Breakthrough spikes in rapid eye movement sleep from the epilepsy monitoring unit are associated with peak seizure frequency MB McKenzie, ML Jones, A O’Carroll, D Serletis, LA Shafer, MC Ng Sleep 43 (5), zsz281, 2020 | 9 | 2020 |
Novel LRRK2 mutations in Parkinsonism. J Trinh, I Guella, M McKenzie, EK Gustavsson, C Szu-Tu, MS Petersen, ... Parkinsonism & Related Disorders 21 (9), 1119-1121, 2015 | 8 | 2015 |
Neurobehavioral characterization of adult-onset Alexander disease: A family study ML Lichtenstein, E Dwosh, A Roy Chowdhury, MJ Farrer, MB McKenzie, ... Neurology: Clinical Practice 7 (5), 425-429, 2017 | 5 | 2017 |
Epilepsy Genomics Study I Guella, MB McKenzie, DM Evans, SE Buerki, EB Toyota, MI Van Allen Suri, M., Elmslie, F., Deciphering Developmental Disorders Study, Simon, MEH …, 2017 | 4 | 2017 |
Mutations in Kv7. 5 Channels Associated with Intellectual Disability or Epileptic Encephalopathy A Lehman, S Thouta, GMS Mancini, M Van Slegtenhorst, S Naidu, ... Biophysical Journal 114 (3), 123a, 2018 | 1 | 2018 |
Diagnostic Yield and Treatment Impact of Targeted Whole Exome Sequencing in Early Onset Epilepsy (P5. 155) S Buerki, E Toyota, I Guella, M McKenzie, D Evans, S Adam, M Van Allen, ... Neurology 86 (16_supplement), P5. 155, 2016 | 1 | 2016 |
Peak Seizure Frequency Correlates with Disruptive Spiking in Rapid Eye Movement Sleep (2043) M McKenzie, ML Jones, A O’Carroll, D Serletis, LA Shafer, M Ng Neurology 94 (15 Supplement), 2020 | | 2020 |
A. 01 Targeted analysis of whole exome sequencing and genotype-phenotype correlation in epileptic encephalopathies SE Buerki, EB Toyota, I Guella, M McKenzie, D Evans, S Adam, ... Canadian Journal of Neurological Sciences 43 (S2), S7-S7, 2016 | | 2016 |
Genome-wide association study in asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus V Kumar, HJ Westra, J Karjalainen, DV Zhernakova, T Esko, B Hrdlickova, ... Nature, 2016 | | 2016 |
A framework for the JPL strategic plan F Naderi, J Beckman, F Li, L Simmons, B Weber, A Pappano, B Jackson, ... | | 2002 |
JPL reimbursable programs R Cox, J Beckman, F Li, F Naderi, L Simmons, B Weber, A Pappano, ... | | 2002 |
The interplanetary network: the gateway to exploration and discovery B Weber, J Beckman, F Li, F Naderi, L Simmons, A Pappano, B Jackson, ... | | 2002 |