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Page 1
CHARMM at 45: Enhancements in Accessibility, Functionality, and Speed.
Hwang W, Austin SL, Blondel A, Boittier ED, Boresch S, Buck M, Buckner J, Caflisch A, Chang HT, Cheng X, Choi YK, Chu JW, Crowley MF, Cui Q, Damjanovic A, Deng Y, Devereux M, Ding X, Feig MF, Gao J, Glowacki DR, Gonzales JE 2nd, Hamaneh MB, Harder ED, Hayes RL, Huang J, Huang Y, Hudson PS, Im W, Islam SM, Jiang W, Jones MR, Käser S, Kearns FL, Kern NR, Klauda JB, Lazaridis T, Lee J, Lemkul JA, Liu X, Luo Y, MacKerell AD Jr, Major DT, Meuwly M, Nam K, Nilsson L, Ovchinnikov V, Paci E, Park S, Pastor RW, Pittman AR, Post CB, Prasad S, Pu J, Qi Y, Rathinavelan T, Roe DR, Roux B, Rowley CN, Shen J, Simmonett AC, Sodt AJ, Töpfer K, Upadhyay M, van der Vaart A, Vazquez-Salazar LI, Venable RM, Warrensford LC, Woodcock HL, Wu Y, Brooks CL 3rd, Brooks BR, Karplus M. Hwang W, et al. Among authors: austin sl. J Phys Chem B. 2024 Oct 17;128(41):9976-10042. doi: 10.1021/acs.jpcb.4c04100. Epub 2024 Sep 20. J Phys Chem B. 2024. PMID: 39303207 Free PMC article. Review.
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
Koch RL, Soler-Alfonso C, Kiely BT, Asai A, Smith AL, Bali DS, Kang PB, Landstrom AP, Akman HO, Burrow TA, Orthmann-Murphy JL, Goldman DS, Pendyal S, El-Gharbawy AH, Austin SL, Case LE, Schiffmann R, Hirano M, Kishnani PS. Koch RL, et al. Among authors: austin sl. Mol Genet Metab. 2023 Mar;138(3):107525. doi: 10.1016/j.ymgme.2023.107525. Epub 2023 Jan 25. Mol Genet Metab. 2023. PMID: 36796138 Review.
A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III.
Hijazi G, Paschall A, Young SP, Smith B, Case LE, Boggs T, Amarasekara S, Austin SL, Pendyal S, El-Gharbawy A, Deak KL, Muir AJ, Kishnani PS. Hijazi G, et al. Among authors: austin sl. Mol Genet Metab Rep. 2021 Nov 11;29:100821. doi: 10.1016/j.ymgmr.2021.100821. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34820282 Free PMC article.
Targeted long-read sequencing identifies missing disease-causing variation.
Miller DE, Sulovari A, Wang T, Loucks H, Hoekzema K, Munson KM, Lewis AP, Fuerte EPA, Paschal CR, Walsh T, Thies J, Bennett JT, Glass I, Dipple KM, Patterson K, Bonkowski ES, Nelson Z, Squire A, Sikes M, Beckman E, Bennett RL, Earl D, Lee W, Allikmets R, Perlman SJ, Chow P, Hing AV, Wenger TL, Adam MP, Sun A, Lam C, Chang I, Zou X, Austin SL, Huggins E, Safi A, Iyengar AK, Reddy TE, Majoros WH, Allen AS, Crawford GE, Kishnani PS; University of Washington Center for Mendelian Genomics; King MC, Cherry T, Chong JX, Bamshad MJ, Nickerson DA, Mefford HC, Doherty D, Eichler EE. Miller DE, et al. Among authors: austin sl. Am J Hum Genet. 2021 Aug 5;108(8):1436-1449. doi: 10.1016/j.ajhg.2021.06.006. Epub 2021 Jul 2. Am J Hum Genet. 2021. PMID: 34216551 Free PMC article.
Pregnancy Outcomes in Late Onset Pompe Disease.
Goker-Alpan O, Kasturi VG, Sohi MK, Limgala RP, Austin SL, Jennelle T, Banikazemi M, Kishnani PS. Goker-Alpan O, et al. Among authors: austin sl. Life (Basel). 2020 Sep 11;10(9):194. doi: 10.3390/life10090194. Life (Basel). 2020. PMID: 32932790 Free PMC article.
Behavioral, social and school functioning in children with Pompe disease.
Korlimarla A, Spiridigliozzi GA, Stefanescu M, Austin SL, Kishnani PS. Korlimarla A, et al. Among authors: austin sl. Mol Genet Metab Rep. 2020 Aug 5;25:100635. doi: 10.1016/j.ymgmr.2020.100635. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 32793419 Free PMC article.
Response to Heiner-Fokkema et al.
Young SP, Khan AA, Austin SL, Kishnani PS. Young SP, et al. Among authors: austin sl. Genet Med. 2020 Nov;22(11):1917-1918. doi: 10.1038/s41436-020-0879-1. Epub 2020 Jul 13. Genet Med. 2020. PMID: 32655140 Free article. No abstract available.
Novel approaches to quantify CNS involvement in children with Pompe disease.
Korlimarla A, Spiridigliozzi GA, Crisp K, Herbert M, Chen S, Malinzak M, Stefanescu M, Austin SL, Cope H, Zimmerman K, Jones H, Provenzale JM, Kishnani PS. Korlimarla A, et al. Among authors: austin sl. Neurology. 2020 Aug 11;95(6):e718-e732. doi: 10.1212/WNL.0000000000009979. Epub 2020 Jun 9. Neurology. 2020. PMID: 32518148 Free PMC article.
34 results