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Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.
Goldstein JL, McGlaughon J, Kanavy D, Goomber S, Pan Y, Deml B, Donti T, Kearns L, Seifert BA, Schachter M, Son RG, Thaxton C, Udani R, Bali D, Baudet H, Caggana M, Hung C, Kyriakopoulou L, Rosenblum L, Steiner R, Pinto E Vairo F, Wang Y, Watson M, Fernandez R, Weaver M, Clarke L, Rehder C. Goldstein JL, et al. Among authors: schachter m. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107715. doi: 10.1016/j.ymgme.2023.107715. Epub 2023 Oct 26. Mol Genet Metab. 2023. PMID: 37907381
Double-Positive Anti-Glomerular Basement Membrane Antibody and Myeloperoxidase Antineutrophil Cytoplasmic Autoantibody-Associated Glomerulonephritis Post COVID-19 mRNA vaccine: A Case Series of 4 Patients.
Ting JA, Barbir EB, McRae SA, Schachter M, De Luca L, Riazy M, Levin A. Ting JA, et al. Among authors: schachter m. Can J Kidney Health Dis. 2023 Feb 13;10:20543581231153217. doi: 10.1177/20543581231153217. eCollection 2023. Can J Kidney Health Dis. 2023. PMID: 36794121 Free PMC article.
Icosapent Ethyl Reduces Ischemic Events in Patients With a History of Previous Coronary Artery Bypass Grafting: REDUCE-IT CABG.
Verma S, Bhatt DL, Steg PG, Miller M, Brinton EA, Jacobson TA, Dhingra NK, Ketchum SB, Juliano RA, Jiao L, Doyle RT Jr, Granowitz C, Gibson CM, Pinto D, Giugliano RP, Budoff MJ, Mason RP, Tardif JC, Ballantyne CM; REDUCE-IT Investigators. Verma S, et al. Circulation. 2021 Dec 7;144(23):1845-1855. doi: 10.1161/CIRCULATIONAHA.121.056290. Epub 2021 Oct 28. Circulation. 2021. PMID: 34710343 Free article. Clinical Trial.
Ozanimod as Induction and Maintenance Therapy for Ulcerative Colitis.
Sandborn WJ, Feagan BG, D'Haens G, Wolf DC, Jovanovic I, Hanauer SB, Ghosh S, Petersen A, Hua SY, Lee JH, Charles L, Chitkara D, Usiskin K, Colombel JF, Laine L, Danese S; True North Study Group. Sandborn WJ, et al. N Engl J Med. 2021 Sep 30;385(14):1280-1291. doi: 10.1056/NEJMoa2033617. N Engl J Med. 2021. PMID: 34587385 Clinical Trial.
Calcium imaging in freely-moving mice during electrical stimulation of deep brain structures.
Trevathan JK, Asp AJ, Nicolai EN, Trevathan J, Kremer NA, Kozai TDY, Cheng D, Schachter M, Nassi JJ, Otte SL, Parker JG, Lujan JL, Ludwig K. Trevathan JK, et al. Among authors: schachter m. J Neural Eng. 2020 Sep 11:10.1088/1741-2552/abb7a4. doi: 10.1088/1741-2552/abb7a4. Online ahead of print. J Neural Eng. 2020. PMID: 32916665 Free PMC article.
721 results