DBHi Translational Informatics Publications

AddtoAny
Share:

WATCH THIS PAGE

Subscribe to be notified of changes or updates to this page.

2 + 3 =
Solve this simple math problem and enter the result. E.g. for 1+3, enter 4.

Below is a list of selected publications from the Translational Informatics group:

Lewis-Smith D, Parthasarathy S, Xian J, Kaufman MC, Ganesan S, Galer PD, Thomas RH, Helbig I. Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery. Hum Mutat. 2022 Nov; 43(11):1642-1658. PMID: 35460582
Hill ME, Ledyard RF, Wildenhain P, Taha D, Dori Y, Burris HH. Hypereosinophilia in NICU patients with a neonatal lymphatic flow disorder. J Perinatol. 2022 Nov; 42(11):1538-1539. PMID: 35859185
Prelack M, Fridinger S, Gonzalez AK, Kaufman MC, Xian J, Galer PD, Craig S, Abend NS, Helbig I; CHOP Neuroscience Center - VOC Research Group*. Visits of concern in child neurology telemedicine. Dev Med Child Neurol. 2022 Nov; 64(11):1351-1358. PMID: 35514061
Takanohashi A, Alameh MG, Woidill S, Hacker J, Davis B, Helman G, Gavazzi F, Adang L, D'Aiello R, Winters P, Cordova D, Khandaker T, Ni H, Tam Y, Lin P, Weissman D, Shults J, Vanderver A. SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières Syndrome. Mol Genet Metab. 2022 Oct; 137(4):320-327. PMID: 36334423
Jacobwitz M, Mulvihill C, Kaufman MC, Gonzalez AK, Resendiz K, MacDonald JM, Francoeur C, Helbig I, Topjian AA, Abend NS. Ketamine for Management of Neonatal and Pediatric Refractory Status Epilepticus. Neurology. 2022 Sep; 99(12):e1227-e1238. PMID: 35817569
Miller TP, et al. Rates of laboratory adverse events by course in paediatric leukaemia ascertained with automated electronic health record extraction: a retrospective cohort study from the Children's Oncology Group. Lancet Haematol. 2022 Sep; 9(9):e678-e688. PMID: 35870472
Miller TP, Li Y, Masino AJ, Vallee E, Burrows E, Ramos M, Alonzo TA, Gerbing R, Castellino SM, Hawkins DS, Lash TL, Aplenc R, Grundmeier RW. Automated Ascertainment of Typhlitis From the Electronic Health Record. JCO Clin Cancer Inform. 2022 Sep; 6:e2200081. PMID: 36198128.
Adang LA, Gavazzi F, D'Aiello R, Isaacs D, Bronner N, Arici ZS, Flores Z, Jan A, Scher C, Sherbini O, Behrens EM, Goldbach-Mansky R, Olson TS, Lambert MP, Sullivan KE, Teachey DT, Witmer C, Vanderver A, Shults J. Hematologic abnormalities in Aicardi Goutières Syndrome. Mol Genet Metab. 2022 Aug; 136(4):324-329. PMID: 35786528
Weaver JK, Milford K, Rickard M, Logan J, Erdman L, Viteri B, D'Souza N, Cucchiara A, Skreta M, Keefe D, Shah S, Selman A, Fischer K, Weiss DA, Long CJ, Lorenzo A, Fan Y, Tasian GE. Deep learning imaging features derived from kidney ultrasounds predict chronic kidney disease progression in children with posterior urethral valves. Pediatr Nephrol. 2022 Jul; PMID: 35867160
Xian J, Parthasarathy S, Ruggiero SM, Balagura G, Fitch E, Helbig K, Gan J, Ganesan S, Kaufman MC, Ellis CA, Lewis-Smith D, Galer P, Cunningham K, O'Brien M, Cosico M, Baker K, Darling A, Veiga de Goes F, El Achkar CM, Doering JH, Furia F, García-Cazorla Á, Gardella E, Geertjens L, Klein C, Kolesnik-Taylor A, Lammertse H, Lee J, Mackie A, Misra-Isrie M, Olson H, Sexton E, Sheidley B, Smith L, Sotero L, Stamberger H, Syrbe S, Thalwitzer KM, van Berkel A, van Haelst M, Yuskaitis C, Weckhuysen S, Prosser B, Son Rigby C, Demarest S, Pierce S, Zhang Y, Møller RS, Bruining H, Poduri A, Zara F, Verhage M, Striano P, Helbig I. Assessing the landscape of STXBP1-related disorders in 534 individuals. Brain. 2022 Jun; 145(5):1668-1683. PMID: 35190816
Walshe EA, Elliott MR, Romer D, Cheng S, Curry AE, Seacrist T, Oppenheimer N, Wyner AJ, Grethlein D, Gonzalez AK, Winston FK. Novel use of a virtual driving assessment to classify driver skill at the time of licensure. Transp Res Part F Traffic Psychol Behav. 2022 May; 87:313-326. PMID: 36267629
Hutchinson ML, Nash KB, Abend NS, Moharir M, Wells E, Messer RD, Palaganas J, Helbig I, Wietstock SO, Suslovic W, Gonzalez AK, Kaufman MC, Press CA, Piantino J; Pediatric Neurohospitalist Work Group. Multicenter Study of the Impact of COVID-19 Shelter-In-Place on Tertiary Hospital-based Care for Pediatric Neurologic Disease. Neurohospitalist. 2022 Apr; 12(2):218-226. PMID: 35414846
Ijaz H, Koptyra M, Gaonkar KS, Rokita J, Baubet VP, Tauhid L, Zhu Y, Brown M, Lopez G, Zhang B, Diskin SJ, Vaksman Z, Mason JL, Appert E, Lilly J, Lulla R, De Raedt T, Heath AP, Felmeister A, Raman P, Nazarian J, Santi MR, Storm PB, Resnick A, Waanders AJ, Cole KA. Pediatric high-grade glioma resources from the Children’s Brain Tumor Tissue Consortium. Neuro Oncology. 2020 Jan; 22(1): 163–165. PMID: 31613963
Felmeister AS, et alFelmeister AS, et al. Preliminary exploratory data analysis of simulated national clinical data research network for future use in annotation of a rare tumor biobanking initiative. 2017 IEEE International Conference on Bioinformatics and Biomedicine. 2017 Nov; Kansas City, Missouri
Felmeister A, Lulla R, Waanders A, et al. Gene-12. The Children’s Brain Tumor Tissue Consortium infrastructure facilitates collaborative research in pediatric central nervous system tumors. Neuro Oncol. 2017 Jun; 9(Suppl 4):iv20-iv21
Felmeister AS, Masino AJ, Rivera TJ, Resnick AC, Penningtown JW. The biorepository portal toolkit: an honest brokered, modular service oriented software tool set for biospecimen-driven translational research. BMC Genomics. 2016 Aug; 17(Suppl 4):434. PMID: 27535360
Felmeister AS, Rivera TJ, Masino AJ, Resnick AC, Pennington JW. Scalable biobanking: A modular electronic Honest Broker and Biorepository for integrated clinical, specimen and genomic research. 2015 IEEE International Conference on Bioinformatics and Biomedicine. 2015 Nov; Washington, DC