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1975 1
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2007 3
2008 1
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2013 1
2014 4
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2017 5
2018 5
2019 4
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46 results

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Page 1
Diagnostic Utility of Exome Sequencing for Kidney Disease.
Groopman EE, Marasa M, Cameron-Christie S, Petrovski S, Aggarwal VS, Milo-Rasouly H, Li Y, Zhang J, Nestor J, Krithivasan P, Lam WY, Mitrotti A, Piva S, Kil BH, Chatterjee D, Reingold R, Bradbury D, DiVecchia M, Snyder H, Mu X, Mehl K, Balderes O, Fasel DA, Weng C, Radhakrishnan J, Canetta P, Appel GB, Bomback AS, Ahn W, Uy NS, Alam S, Cohen DJ, Crew RJ, Dube GK, Rao MK, Kamalakaran S, Copeland B, Ren Z, Bridgers J, Malone CD, Mebane CM, Dagaonkar N, Fellström BC, Haefliger C, Mohan S, Sanna-Cherchi S, Kiryluk K, Fleckner J, March R, Platt A, Goldstein DB, Gharavi AG. Groopman EE, et al. Among authors: mebane cm. N Engl J Med. 2019 Jan 10;380(2):142-151. doi: 10.1056/NEJMoa1806891. Epub 2018 Dec 26. N Engl J Med. 2019. PMID: 30586318 Free PMC article.
Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.
Petrovski S, Aggarwal V, Giordano JL, Stosic M, Wou K, Bier L, Spiegel E, Brennan K, Stong N, Jobanputra V, Ren Z, Zhu X, Mebane C, Nahum O, Wang Q, Kamalakaran S, Malone C, Anyane-Yeboa K, Miller R, Levy B, Goldstein DB, Wapner RJ. Petrovski S, et al. Among authors: mebane c. Lancet. 2019 Feb 23;393(10173):758-767. doi: 10.1016/S0140-6736(18)32042-7. Epub 2019 Jan 31. Lancet. 2019. PMID: 30712878
Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder.
Sudnawa KK, Li W, Calamia S, Kanner CH, Bain JM, Abdelhakim AH, Geltzeiler A, Mebane CM, Provenzano FA, Sands TT, Fee RJ, Montes J, Shen Y, Chung WK. Sudnawa KK, et al. Among authors: mebane cm. Genet Med. 2024 Aug;26(8):101169. doi: 10.1016/j.gim.2024.101169. Epub 2024 May 21. Genet Med. 2024. PMID: 38785164
Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy.
Lerche H, Berkovic SF, Lowenstein DH; EuroEPINOMICS-CoGIE Consortium; EpiPGX Consortium; Epi4K Consortium/Epilepsy Phenome/Genome Project. Lerche H, et al. N Engl J Med. 2019 Apr 18;380(16):e24. doi: 10.1056/NEJMc1805100. N Engl J Med. 2019. PMID: 30995385 Free article. No abstract available.
Scientific integrity issues in Environmental Toxicology and Chemistry: Improving research reproducibility, credibility, and transparency.
Mebane CA, Sumpter JP, Fairbrother A, Augspurger TP, Canfield TJ, Goodfellow WL, Guiney PD, LeHuray A, Maltby L, Mayfield DB, McLaughlin MJ, Ortego LS, Schlekat T, Scroggins RP, Verslycke TA. Mebane CA, et al. Integr Environ Assess Manag. 2019 May;15(3):320-344. doi: 10.1002/ieam.4119. Epub 2019 Feb 28. Integr Environ Assess Manag. 2019. PMID: 30609273 Free PMC article. Review.
Clinical and genomic characterization of 8p cytogenomic disorders.
Okur V, Hamm L, Kavus H, Mebane C, Robinson S, Levy B, Chung WK. Okur V, et al. Among authors: mebane c. Genet Med. 2021 Dec;23(12):2342-2351. doi: 10.1038/s41436-021-01270-2. Epub 2021 Jul 19. Genet Med. 2021. PMID: 34282301 Free article.
46 results