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A single NGS-based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing.
Hum Mutat. 2021 May;42(5):626-638. doi: 10.1002/humu.24191. Epub 2021 Mar 19.
Hum Mutat. 2021.
PMID: 33644936
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.
Bruels CC, Littel HR, Daugherty AL, Stafki S, Estrella EA, McGaughy ES, Truong D, Badalamenti JP, Pais L, Ganesh VS, O'Donnell-Luria A, Stalker HJ, Wang Y, Collins C, Behlmann A, Lemmers RJLF, van der Maarel SM, Laine R, Ghosh PS, Darras BT, Zingariello CD, Pacak CA, Kunkel LM, Kang PB.
Bruels CC, et al.
Ann Clin Transl Neurol. 2022 Aug;9(8):1302-1309. doi: 10.1002/acn3.51612. Epub 2022 Jun 23.
Ann Clin Transl Neurol. 2022.
PMID: 35734998
Free PMC article.
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Addendum: Technical standards and guidelines for spinal muscular atrophy testing.
Deignan JL, Astbury C, Behlmann A, Guha S, Monaghan KG, Reddi HV, Seifert BA, Tayeh M, Wakeling E; ACMG Laboratory Quality Assurance Committee.
Deignan JL, et al.
Genet Med. 2021 Dec;23(12):2462. doi: 10.1038/s41436-020-00961-6. Epub 2020 Oct 13.
Genet Med. 2021.
PMID: 33046848
Free article.
No abstract available.
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Whole genome sequencing identifies a cryptic SOX9 regulatory element duplication underlying a case of 46,XX ovotesticular difference of sexual development.
Qian Z, Grand K, Freedman A, Nieto MC, Behlmann A, Schweiger BM, Sanchez-Lara PA.
Qian Z, et al.
Am J Med Genet A. 2021 Sep;185(9):2782-2788. doi: 10.1002/ajmg.a.62373. Epub 2021 May 29.
Am J Med Genet A. 2021.
PMID: 34050715
Free PMC article.
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Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Spector E, Behlmann A, Kronquist K, Rose NC, Lyon E, Reddi HV; ACMG Laboratory Quality Assurance Committee.
Spector E, et al.
Genet Med. 2021 May;23(5):799-812. doi: 10.1038/s41436-021-01115-y. Epub 2021 Apr 1.
Genet Med. 2021.
PMID: 33795824
Free article.
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Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.
Riggs ER, Bingaman TI, Barry CA, Behlmann A, Bluske K, Bostwick B, Bright A, Chen CA, Clause AR, Dharmadhikari AV, Ganapathi M, Gonzaga-Jauregui C, Grant AR, Hughes MY, Kim SR, Krause A, Liao J, Lumaka A, Mah M, Maloney CM, Mohan S, Osei-Owusu IA, Reble E, Rennie O, Savatt JM, Shimelis H, Siegert RK, Sneddon TP, Thaxton C, Toner KA, Tran KT, Webb R, Wilcox EH, Yin J, Zhuo X, Znidarsic M, Martin CL, Betancur C, Vorstman JAS, Miller DT, Schaaf CP.
Riggs ER, et al.
Genet Med. 2022 Sep;24(9):1899-1908. doi: 10.1016/j.gim.2022.05.001. Epub 2022 May 26.
Genet Med. 2022.
PMID: 35616647
Free PMC article.
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A Hemizygous Deletion Within the PGK1 Gene in Males with PGK1 Deficiency.
Behlmann AM, Goyal NA, Yang X, Chen PH, Ankala A.
Behlmann AM, et al.
JIMD Rep. 2019;45:105-110. doi: 10.1007/8904_2018_147. Epub 2018 Dec 21.
JIMD Rep. 2019.
PMID: 30570712
Free PMC article.
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