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Page 1
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.
Puckelwartz MJ, Pesce LL, Hernandez EJ, Webster G, Dellefave-Castillo LM, Russell MW, Geisler SS, Kearns SD, Karthik F, Etheridge SP, Monroe TO, Pottinger TD, Kannankeril PJ, Shoemaker MB, Fountain D, Roden DM, Faulkner M, MacLeod HM, Burns KM, Yandell M, Tristani-Firouzi M, George AL Jr, McNally EM. Puckelwartz MJ, et al. Among authors: hernandez ej. Genome Med. 2024 Jan 16;16(1):13. doi: 10.1186/s13073-024-01284-w. Genome Med. 2024. PMID: 38229148 Free PMC article.
De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes.
Watkins WS, Hernandez EJ, Wesolowski S, Bisgrove BW, Sunderland RT, Lin E, Lemmon G, Demarest BL, Miller TA, Bernstein D, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Newburger JW, Seidman CE, Shen Y, Yost HJ, Yandell M, Tristani-Firouzi M. Watkins WS, et al. Among authors: hernandez ej. Nat Commun. 2019 Oct 17;10(1):4722. doi: 10.1038/s41467-019-12582-y. Nat Commun. 2019. PMID: 31624253 Free PMC article.
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
De La Vega FM, Chowdhury S, Moore B, Frise E, McCarthy J, Hernandez EJ, Wong T, James K, Guidugli L, Agrawal PB, Genetti CA, Brownstein CA, Beggs AH, Löscher BS, Franke A, Boone B, Levy SE, Õunap K, Pajusalu S, Huentelman M, Ramsey K, Naymik M, Narayanan V, Veeraraghavan N, Billings P, Reese MG, Yandell M, Kingsmore SF. De La Vega FM, et al. Among authors: hernandez ej. Genome Med. 2021 Oct 14;13(1):153. doi: 10.1186/s13073-021-00965-0. Genome Med. 2021. PMID: 34645491 Free PMC article.
Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.
Nicholas TJ, Al-Sweel N, Farrell A, Mao R, Bayrak-Toydemir P, Miller CE, Bentley D, Palmquist R, Moore B, Hernandez EJ, Cormier MJ, Fredrickson E, Noble K, Rynearson S, Holt C, Karren MA, Bonkowsky JL, Tristani-Firouzi M, Yandell M, Marth G, Quinlan AR, Brunelli L, Toydemir RM, Shayota BJ, Carey JC, Boyden SE, Malone Jenkins S. Nicholas TJ, et al. Among authors: hernandez ej. Mol Genet Genomic Med. 2022 Apr;10(4):e1888. doi: 10.1002/mgg3.1888. Epub 2022 Feb 4. Mol Genet Genomic Med. 2022. PMID: 35119225 Free PMC article.
An explainable artificial intelligence approach for predicting cardiovascular outcomes using electronic health records.
Wesołowski S, Lemmon G, Hernandez EJ, Henrie A, Miller TA, Weyhrauch D, Puchalski MD, Bray BE, Shah RU, Deshmukh VG, Delaney R, Yost HJ, Eilbeck K, Tristani-Firouzi M, Yandell M. Wesołowski S, et al. Among authors: hernandez ej. PLOS Digit Health. 2022;1(1):e0000004. doi: 10.1371/journal.pdig.0000004. Epub 2022 Jan 18. PLOS Digit Health. 2022. PMID: 35373216 Free PMC article.
Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning.
Peterson B, Hernandez EJ, Hobbs C, Malone Jenkins S, Moore B, Rosales E, Zoucha S, Sanford E, Bainbridge MN, Frise E, Oriol A, Brunelli L, Kingsmore SF, Yandell M. Peterson B, et al. Among authors: hernandez ej. Genome Med. 2023 Mar 16;15(1):18. doi: 10.1186/s13073-023-01166-7. Genome Med. 2023. PMID: 36927505 Free PMC article.
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.
Puckelwartz MJ, Pesce LL, Hernandez EJ, Webster G, Dellefave-Castillo LM, Russell MW, Geisler SS, Kearns SD, Etheridge FK, Etheridge SP, Monroe TO, Pottinger TD, Kannankeril PJ, Shoemaker MB, Fountain D, Roden DM, MacLeod H, Burns KM, Yandell M, Tristani-Firouzi M, George AL, McNally EM. Puckelwartz MJ, et al. Among authors: hernandez ej. medRxiv [Preprint]. 2023 Mar 29:2023.03.27.23287711. doi: 10.1101/2023.03.27.23287711. medRxiv. 2023. Update in: Genome Med. 2024 Jan 16;16(1):13. doi: 10.1186/s13073-024-01284-w. PMID: 37034657 Free PMC article. Updated. Preprint.
An Explainable Artificial Intelligence Approach for Discovering Social Determinants of Health and Risk Interactions for Stroke in Patients With Atrial Fibrillation.
Zimmerman RM, Hernandez EJ, Watkins WS, Blue N, Tristani-Firouzi M, Yandell M, Steinberg BA. Zimmerman RM, et al. Among authors: hernandez ej. Am J Cardiol. 2023 Aug 15;201:224-226. doi: 10.1016/j.amjcard.2023.05.064. Epub 2023 Jun 27. Am J Cardiol. 2023. PMID: 37385178 Free PMC article. No abstract available.
45 results