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Joseph C Watkins

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Articles 34
Citations 570
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Recent Articles
11.
Hack J, Horning K, Juroske Short D, Schreiber J, Watkins J, Hammer M
Neurol Genet . 2023 May; 9(3):e200060. PMID: 37152443
Background And Objectives: Pathogenic variants at the voltage-gated sodium channel gene, , are associated with a wide spectrum of clinical disease outcomes. A critical challenge for neurologists is to determine...
12.
Lu E, Hara A, Sun S, Hallmark B, Snider J, Seeds M, et al.
medRxiv . 2022 Dec; PMID: 36451888
Previous research suggests that group IIA secreted phospholipase A (sPLA -IIA) plays a role in and predicts severe COVID-19 disease. The current study reanalyzed a longitudinal proteomic data set to...
13.
Encinas A, Watkins J, Longoria I, Johnson Jr J, Hammer M
PLoS One . 2020 Aug; 15(8):e0238121. PMID: 32845893
Variants implicated in childhood epilepsy have been identified in all four voltage-gated sodium channels that initiate action potentials in the central nervous system. Previous research has focused on the functional...
14.
Encinas A, Moore I, Watkins J, Hammer M
Epilepsia . 2019 Jul; 60(8):1711-1720. PMID: 31335965
Objective: To characterize a cohort of patients with SCN8A-related epilepsy and to perform analyses to identify correlations involving the acquisition of neurodevelopmental skills. Methods: We analyzed patient data (n = ...
15.
Hallmark B, Karafet T, Hsieh P, Osipova L, Watkins J, Hammer M
Mol Biol Evol . 2018 Nov; 36(2):315-327. PMID: 30428071
The indigenous inhabitants of Siberia live in some of the harshest environments on earth, experiencing extended periods of severe cold temperatures, dramatic variation in photoperiod, and limited and highly variable...
16.
Woerner A, Veeramah K, Watkins J, Hammer M
Mol Biol Evol . 2018 Aug; 35(9):2284-2295. PMID: 30113695
Evolutionary genetic studies have shown a positive correlation between levels of nucleotide diversity and either rates of recombination or genetic distance to genes. Both positive-directional and purifying selection have been...
17.
Quinto-Cortes C, Woerner A, Watkins J, Hammer M
Sci Rep . 2018 Jul; 8(1):10209. PMID: 29977040
Single nucleotide polymorphisms (SNPs) in commercial arrays have often been discovered in a small number of samples from selected populations. This ascertainment skews patterns of nucleotide diversity and affects population...
18.
Ishii A, Watkins J, Chen D, Hirose S, Hammer M
Epilepsia . 2016 Dec; 58(2):282-290. PMID: 28012175
Objective: Two major classes of SCN1A variants are associated with Dravet syndrome (DS): those that result in haploinsufficiency (truncating) and those that result in an amino acid substitution (missense). The...
19.
Ishii A, Kang J, Schornak C, Hernandez C, Shen W, Watkins J, et al.
J Med Genet . 2016 Oct; 54(3):202-211. PMID: 27789573
Background: Early myoclonic encephalopathy (EME), a disease with a devastating prognosis, is characterised by neonatal onset of seizures and massive myoclonus accompanied by a continuous suppression-burst EEG pattern. Three genes...
20.
Glazer E, Zhang H, Hill K, Patel C, Kha S, Yozwiak M, et al.
Cancer Med . 2016 Sep; 5(10):2841-2847. PMID: 27666740
Intraductal papillary mucinous neoplasms (IPMN) are pancreatic lesions with uncertain biologic behavior. This study sought objective, accurate prediction tools, through the use of quantitative histopathological signatures of nuclear images, for...