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ClinGen--the Clinical Genome Resource.
Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS; ClinGen. Rehm HL, et al. Among authors: ledbetter dh. N Engl J Med. 2015 Jun 4;372(23):2235-42. doi: 10.1056/NEJMsr1406261. Epub 2015 May 27. N Engl J Med. 2015. PMID: 26014595 Free PMC article.
ClinGen's GenomeConnect registry enables patient-centered data sharing.
Savatt JM, Azzariti DR, Faucett WA, Harrison S, Hart J, Kattman B, Landrum MJ, Ledbetter DH, Miller VR, Palen E, Rehm HL, Rhode J, Turner S, Vidal JA, Wain KE, Riggs ER, Martin CL. Savatt JM, et al. Among authors: ledbetter dh. Hum Mutat. 2018 Nov;39(11):1668-1676. doi: 10.1002/humu.23633. Hum Mutat. 2018. PMID: 30311371 Free PMC article.
Molecular cytogenetic analysis of telomere rearrangements.
Martin CL, Ledbetter DH. Martin CL, et al. Among authors: ledbetter dh. Curr Protoc Hum Genet. 2015 Jan 20;84:8.11.1-8.11.15. doi: 10.1002/0471142905.hg0811s84. Curr Protoc Hum Genet. 2015. PMID: 25599669 Free PMC article.
Copy number variants, aneuploidies, and human disease.
Martin CL, Kirkpatrick BE, Ledbetter DH. Martin CL, et al. Among authors: ledbetter dh. Clin Perinatol. 2015 Jun;42(2):227-42, vii. doi: 10.1016/j.clp.2015.03.001. Epub 2015 Apr 1. Clin Perinatol. 2015. PMID: 26042902 Free PMC article. Review.
378 results