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Impact of integrated translational research on clinical exome sequencing.
Genet Med. 2021 Mar;23(3):498-507. doi: 10.1038/s41436-020-01005-9. Epub 2020 Nov 4.
Genet Med. 2021.
PMID: 33144682
Free article.
GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease.
Pinto E Vairo F, Bertsch N, Klee EW, Gavrilova RH.
Pinto E Vairo F, et al.
Acta Neuropathol Commun. 2018 Oct 24;6(1):112. doi: 10.1186/s40478-018-0616-z.
Acta Neuropathol Commun. 2018.
PMID: 30355306
Free PMC article.
No abstract available.
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De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.
Nicola P, Blackburn PR, Rasmussen KJ, Bertsch NL, Klee EW, Hasadsri L, Pichurin PN, Rankin J, Raymond FL; DDD Study; Clayton-Smith J.
Nicola P, et al. Among authors: bertsch nl.
Am J Med Genet A. 2019 Apr;179(4):570-578. doi: 10.1002/ajmg.a.61061. Epub 2019 Feb 7.
Am J Med Genet A. 2019.
PMID: 30734472
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Perspectives on facilitating whole exome sequencing for international patients at Mayo Clinic.
Bertsch N, Agre K, Ewing S, Gunderson L, Kemppainen J, Murphree M.
Bertsch N, et al.
J Genet Couns. 2019 Apr;28(2):398-406. doi: 10.1002/jgc4.1100. Epub 2019 Feb 14.
J Genet Couns. 2019.
PMID: 30762915
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A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmüller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J, Dieux-Coëslier A, Dubbs H, Ferrer A, Gal D, Bartik LE, Gunderson LB, Hasadsri L, Jain M, Karimov C, Keena B, Klee EW, Kloth K, Lace B, Macchiaiolo M, Marcadier JL, Milunsky JM, Napier MP, Ortiz-Gonzalez XR, Pichurin PN, Pinner J, Powis Z, Prasad C, Radio FC, Rasmussen KJ, Renaud DL, Rush ET, Saunders C, Selcen D, Seman AR, Shinde DN, Smith ED, Smol T, Snijders Blok L, Stoler JM, Tang S, Tartaglia M, Thompson ML, van de Kamp JM, Wang J, Weise D, Weiss K, Woitschach R, Wollnik B, Yan H, Zackai EH, Zampino G, Campeau P, Bhoj E.
Drivas TG, et al. Among authors: bertsch nl.
Eur J Hum Genet. 2020 Oct;28(10):1422-1431. doi: 10.1038/s41431-020-0654-4. Epub 2020 Jun 1.
Eur J Hum Genet. 2020.
PMID: 32483341
Free PMC article.
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Biallelic variants in PROZ as a cause of hypercoagulability and livedo racemosa.
Pinto E Vairo F, Kroc SA, Bertsch NL, Sigafoos AN, Lee HB, Dsouza NR, Clark KJ, Pichurin PN, Zimmermann MT, Klee EW.
Pinto E Vairo F, et al. Among authors: bertsch nl.
Thromb Res. 2020 Nov;195:187-189. doi: 10.1016/j.thromres.2020.07.014. Epub 2020 Jul 9.
Thromb Res. 2020.
PMID: 32721632
No abstract available.
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Impact of integrated translational research on clinical exome sequencing.
Klee EW, Cousin MA, Pinto E Vairo F, Morales-Rosado JA, Macke EL, Jenkinson WG, Ferrer A, Schultz-Rogers LE, Olson RJ, Oliver GR, Sigafoos AN, Schwab TL, Zimmermann MT, Urrutia RA, Kaiwar C, Gupta A, Blackburn PR, Boczek NJ, Prochnow CA, Lowy RJ, Mulvihill LA, McAllister TM, Aoudia SL, Kruisselbrink TM, Gunderson LB, Kemppainen JL, Fisher LJ, Tarnowski JM, Hager MM, Kroc SA, Bertsch NL, Agre KE, Jackson JL, Macklin-Mantia SK, Murphree MI, Rust LM, Summer Bolster JM, Beck SA, Atwal PS, Ellingson MS, Barnett SS, Rasmussen KJ, Lahner CA, Niu Z, Hasadsri L, Ferber MJ, Marcou CA, Clark KJ, Pichurin PN, Deyle DR, Morava-Kozicz E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Farrugia G, Schimmenti LA, Stewart AK, Lazaridis KN.
Klee EW, et al. Among authors: bertsch nl.
Genet Med. 2023 Feb;25(2):100359. doi: 10.1016/j.gim.2022.12.006.
Genet Med. 2023.
PMID: 36745126
Free article.
No abstract available.
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Systematic evidence review and meta-analysis of outcomes associated with cancer genetic counseling.
Culver JO, Bertsch NL, Kurz RN, Cheng LL, Pritzlaff M, Rao SK, Stasi SM, Stave CD, Sharaf RN.
Culver JO, et al. Among authors: bertsch nl.
Genet Med. 2024 Jan;26(1):100980. doi: 10.1016/j.gim.2023.100980. Epub 2023 Sep 6.
Genet Med. 2024.
PMID: 37688462
Review.
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