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Phased nanopore assembly with Shasta and modular graph phasing with GFAse.
Lorig-Roach R, Meredith M, Monlong J, Jain M, Olsen H, McNulty B, Porubsky D, Montague T, Lucas J, Condon C, Eizenga J, Juul S, McKenzie S, Simmonds SE, Park J, Asri M, Koren S, Eichler E, Axel R, Martin B, Carnevali P, Miga K, Paten B. Lorig-Roach R, et al. Among authors: juul s. bioRxiv [Preprint]. 2023 Feb 22:2023.02.21.529152. doi: 10.1101/2023.02.21.529152. bioRxiv. 2023. PMID: 36865218 Free PMC article. Updated. Preprint.
Phased nanopore assembly with Shasta and modular graph phasing with GFAse.
Lorig-Roach R, Meredith M, Monlong J, Jain M, Olsen HE, McNulty B, Porubsky D, Montague TG, Lucas JK, Condon C, Eizenga JM, Juul S, McKenzie SK, Simmonds SE, Park J, Asri M, Koren S, Eichler EE, Axel R, Martin B, Carnevali P, Miga KH, Paten B. Lorig-Roach R, et al. Among authors: juul s. Genome Res. 2024 Apr 25;34(3):454-468. doi: 10.1101/gr.278268.123. Genome Res. 2024. PMID: 38627094
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation.
Du H, Jolly A, Grochowski CM, Yuan B, Dawood M, Jhangiani SN, Li H, Muzny D, Fatih JM, Coban-Akdemir Z, Carlin ME, Scheuerle AE, Witzl K, Posey JE, Pendleton M, Harrington E, Juul S, Hastings PJ, Bi W, Gibbs RA, Sedlazeck FJ, Lupski JR, Carvalho CMB, Liu P. Du H, et al. Among authors: juul s. Genome Med. 2022 Oct 27;14(1):122. doi: 10.1186/s13073-022-01123-w. Genome Med. 2022. PMID: 36303224 Free PMC article.
Genetic and Congenital Anomalies in Infants With Hypoxic-Ischemic Encephalopathy.
Morell AS, Monsell SE, Cornet MC, Wisnowski JL, McKinstry RC, Mathur AM, Li Y, Glass HC, Gonzalez FF, Mayock DE, Benninger KL, Van Meurs KP, Lampland AL, Wu TW, Riley D, Mietzsch U, Chalak L, Flibotte J, Weitkamp JH, Ahmad KA, Yanowitz TD, Baserga M, Merhar S, Rao R, Sokol GM, Comstock BA, Heagerty PJ, Juul SE, Wu YW. Morell AS, et al. Among authors: juul se. Pediatr Neurol. 2024 May;154:44-50. doi: 10.1016/j.pediatrneurol.2024.02.007. Epub 2024 Feb 20. Pediatr Neurol. 2024. PMID: 38518503
Relationship of Neonatal Seizure Burden Before Treatment and Response to Initial Antiseizure Medication.
Numis AL, Glass HC, Comstock BA, Gonzalez F, Maitre NL, Massey SL, Mayock DE, Mietzsch U, Natarajan N, Sokol GM, Bonifacio S, Van Meurs K, Thomas C, Ahmad K, Heagerty P, Juul SE, Wu YW, Wusthoff CJ. Numis AL, et al. Among authors: juul se. J Pediatr. 2024 May;268:113957. doi: 10.1016/j.jpeds.2024.113957. Epub 2024 Feb 13. J Pediatr. 2024. PMID: 38360261 Free article.
528 results