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Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis.
Berger SI, Pitsava G, Cohen AJ, Délot EC, LoTempio J, Andrew EH, Martin GM, Marmolejos S, Albert J, Meltzer B, Fraser J, Regier DS, Kahn-Kirby AH, Smith E, Knoblach S, Ko A, Fusaro VA, Vilain E. Berger SI, et al. Among authors: meltzer b. Clin Genet. 2023 Sep;104(3):377-383. doi: 10.1111/cge.14360. Epub 2023 May 17. Clin Genet. 2023. PMID: 37194472
Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.
Billington CJ Jr, Chapman KA, Leon E, Meltzer BW, Berger SI, Olson M, Figler RA, Hoang SA, Wanxing C, Wamhoff BR, Collado MS, Cusmano-Ozog K. Billington CJ Jr, et al. Among authors: meltzer bw. Am J Med Genet A. 2022 Sep;188(9):2738-2749. doi: 10.1002/ajmg.a.62893. Epub 2022 Jul 7. Am J Med Genet A. 2022. PMID: 35799415 Free PMC article.
Variation in Endoscopic Activity Assessment and Endoscopy Score Validation in Adults With Eosinophilic Esophagitis.
Schoepfer AM, Hirano I, Coslovsky M, Roumet MC, Zwahlen M, Kuehni CE, Hafner D, Alexander JA, Dellon ES, Gonsalves N, Leung J, Bussmann C, Collins MH, Newbury RO, Smyrk TC, Woosley JT, Yang GY, Romero Y, Katzka DA, Furuta GT, Gupta SK, Aceves SS, Chehade M, Spergel JM, Falk GW, Meltzer BA, Comer GM, Straumann A, Safroneeva E; International EEsAI Study Group. Schoepfer AM, et al. Among authors: meltzer ba. Clin Gastroenterol Hepatol. 2019 Jul;17(8):1477-1488.e10. doi: 10.1016/j.cgh.2018.11.032. Epub 2018 Nov 23. Clin Gastroenterol Hepatol. 2019. PMID: 30476587 Free article. Clinical Trial.
A clinicopathologic study of diencephalic pediatric low-grade gliomas with BRAF V600 mutation.
Ho CY, Mobley BC, Gordish-Dressman H, VandenBussche CJ, Mason GE, Bornhorst M, Esbenshade AJ, Tehrani M, Orr BA, LaFrance DR, Devaney JM, Meltzer BW, Hofherr SE, Burger PC, Packer RJ, Rodriguez FJ. Ho CY, et al. Among authors: meltzer bw. Acta Neuropathol. 2015 Oct;130(4):575-85. doi: 10.1007/s00401-015-1467-3. Epub 2015 Aug 12. Acta Neuropathol. 2015. PMID: 26264609
35 results