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Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.
Walker LC, Hoya M, Wiggins GAR, Lindy A, Vincent LM, Parsons MT, Canson DM, Bis-Brewer D, Cass A, Tchourbanov A, Zimmermann H, Byrne AB, Pesaran T, Karam R, Harrison SM, Spurdle AB; ClinGen Sequence Variant Interpretation Working Group. Walker LC, et al. Among authors: zimmermann h. Am J Hum Genet. 2023 Jul 6;110(7):1046-1067. doi: 10.1016/j.ajhg.2023.06.002. Epub 2023 Jun 22. Am J Hum Genet. 2023. PMID: 37352859 Free PMC article.
Impact of RNA testing on cardiac variant interpretation and patient management.
Jankelson L, Zimmermann H, Fowler S, Borneman L, Conner B, Wu S, Karam R, Chinitz L, Cerrone M. Jankelson L, et al. Among authors: zimmermann h. HeartRhythm Case Rep. 2019 May 8;5(8):402-406. doi: 10.1016/j.hrcr.2019.04.008. eCollection 2019 Aug. HeartRhythm Case Rep. 2019. PMID: 31453089 Free PMC article. No abstract available.
Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.
Karam R, Conner B, LaDuca H, McGoldrick K, Krempely K, Richardson ME, Zimmermann H, Gutierrez S, Reineke P, Hoang L, Allen K, Yussuf A, Farber-Katz S, Rana HQ, Culver S, Lee J, Nashed S, Toppmeyer D, Collins D, Haynes G, Pesaran T, Dolinsky JS, Tippin Davis B, Elliott A, Chao E. Karam R, et al. Among authors: zimmermann h. JAMA Netw Open. 2019 Oct 2;2(10):e1913900. doi: 10.1001/jamanetworkopen.2019.13900. JAMA Netw Open. 2019. PMID: 31642931 Free PMC article.
Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer.
Horton C, Cass A, Conner BR, Hoang L, Zimmermann H, Abualkheir N, Burks D, Qian D, Molparia B, Vuong H, LaDuca H, Grzybowski J, Durda K, Pilarski R, Profato J, Clayback K, Mahoney M, Schroeder C, Torres-Martinez W, Elliott A, Chao EC, Karam R. Horton C, et al. Among authors: zimmermann h. NPJ Genom Med. 2022 Aug 25;7(1):49. doi: 10.1038/s41525-022-00323-y. NPJ Genom Med. 2022. PMID: 36008414 Free PMC article.
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification.
Chora JR, Iacocca MA, Tichý L, Wand H, Kurtz CL, Zimmermann H, Leon A, Williams M, Humphries SE, Hooper AJ, Trinder M, Brunham LR, Costa Pereira A, Jannes CE, Chen M, Chonis J, Wang J, Kim S, Johnston T, Soucek P, Kramarek M, Leigh SE, Carrié A, Sijbrands EJ, Hegele RA, Freiberger T, Knowles JW, Bourbon M; ClinGen Familial Hypercholesterolemia Expert Panel. Chora JR, et al. Among authors: zimmermann h. Genet Med. 2022 Feb;24(2):293-306. doi: 10.1016/j.gim.2021.09.012. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906454 Free article.
Comparative analysis of tabelecleucel and current treatment in patients with Epstein-Barr virus-positive post-transplant lymphoproliferative disease following hematopoietic cell transplant or solid organ transplant.
Barlev A, Zimmermann H, Guzman-Becerra N, Mehta A, Xing B, Macabeo B, Thivolet M, Brookhart MA. Barlev A, et al. Among authors: zimmermann h. J Med Econ. 2024 May 10:1-10. doi: 10.1080/13696998.2024.2354150. Online ahead of print. J Med Econ. 2024. PMID: 38727527 Free article.
1,542 results