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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: yandell m. Genome Med. 2024 Jan 16;16(1):13. doi: 10.1186/s13073-024-01284-w. Genome Med. 2024. PMID: 38229148 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: yandell m. 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.
Genome Sequencing is Critical for Forecasting Outcomes Following Congenital Cardiac Surgery.
Watkins WS, Hernandez EJ, Miller T, Blue N, Zimmerman R, Griffiths E, Frise E, Bernstein D, Boskovski M, Brueckner M, Chung W, Gaynor JW, Gelb B, Goldmuntz E, Gruber P, Newburger J, Roberts A, Morton S, Mayer J, Seidman C, Seidman J, Shen Y, Wagner M, Yost HJ, Yandell M, Tristani-Firouzi M. Watkins WS, et al. Among authors: yandell m. medRxiv [Preprint]. 2024 Nov 15:2024.05.03.24306784. doi: 10.1101/2024.05.03.24306784. medRxiv. 2024. PMID: 38746151 Free PMC article. Preprint.
AI-based analysis of fetal growth restriction in a prospective obstetric cohort quantifies compound risks for perinatal morbidity and mortality and identifies previously unrecognized high risk clinical scenarios.
Zimmerman RM, Hernandez EJ, Yandell M, Tristani-Firouzi M, Silver RM, Grobman W, Haas D, Saade G, Steller J, Blue NR. Zimmerman RM, et al. Among authors: yandell m. Res Sq [Preprint]. 2024 Dec 16:rs.3.rs-5126218. doi: 10.21203/rs.3.rs-5126218/v1. Res Sq. 2024. PMID: 39764132 Free PMC article. Preprint.
Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection.
Kingsmore SF, Wright M, Smith LD, Liang Y, Mowrey WR, Protopsaltis L, Bainbridge M, Baker M, Batalov S, Blincow E, Cao B, Caylor S, Chambers C, Ellsworth K, Feigenbaum A, Frise E, Guidugli L, Hall KP, Hansen C, Kiel M, Van Der Kraan L, Krilow C, Kwon H, Madhavrao L, Lefebvre S, Leipzig J, Mardach R, Moore B, Oh D, Olsen L, Ontiveros E, Owen MJ, Reimers R, Scharer G, Schleit J, Shelnutt S, Mehtalia SS, Oriol A, Sanford E, Schwartz S, Wigby K, Willis MJ, Yandell M, Kunard CM, Defay T. Kingsmore SF, et al. Among authors: yandell m. Am J Hum Genet. 2024 Dec 5;111(12):2618-2642. doi: 10.1016/j.ajhg.2024.10.021. Am J Hum Genet. 2024. PMID: 39642867
A Machine Learning Decision Support Tool Optimizes Whole Genome Sequencing Utilization in a Neonatal Intensive Care Unit.
Juarez EF, Peterson B, Kobayashi ES, Gilmer S, Tobin LE, Schultz B, Lenberg J, Carroll J, Bai-Tong S, Sweeney NM, Beebe C, Stewart L, Olsen L, Reinke J, Kiernan EA, Reimers R, Wigby K, Tackaberry C, Yandell M, Hobbs C, Bainbridge MN. Juarez EF, et al. Among authors: yandell m. medRxiv [Preprint]. 2024 Jul 7:2024.07.05.24310008. doi: 10.1101/2024.07.05.24310008. medRxiv. 2024. PMID: 39006422 Free PMC article. Preprint. No abstract available.
Breast Cancer is Increased in Women with Primary Ovarian Insufficiency.
Allen-Brady K, Moore B, Verrilli LE, Alvord MA, Kern M, Camp N, Kelley K, Letourneau J, Cannon-Albright L, Yandell M, Johnstone EB, Welt CK. Allen-Brady K, et al. Among authors: yandell m. J Clin Endocrinol Metab. 2024 Jul 12:dgae480. doi: 10.1210/clinem/dgae480. Online ahead of print. J Clin Endocrinol Metab. 2024. PMID: 38996041
Prey Shifts Drive Venom Evolution in Cone Snails.
Koch TL, Robinson SD, Salcedo PF, Chase K, Biggs J, Fedosov AE, Yandell M, Olivera BM, Safavi-Hemami H. Koch TL, et al. Among authors: yandell m. Mol Biol Evol. 2024 Aug 2;41(8):msae120. doi: 10.1093/molbev/msae120. Mol Biol Evol. 2024. PMID: 38935574 Free PMC article.
173 results