Bean LJH - Search Results

1

Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Rehder C, Bean LJH, Bick D, Chao E, Chung W, Das S, O'Daniel J, Rehm H, Shashi V, Vincent LM; ACMG Laboratory Quality Assurance Committee. Rehder C, et al. Among authors: bean ljh. Genet Med. 2021 Aug;23(8):1399-1415. doi: 10.1038/s41436-021-01139-4. Epub 2021 Apr 29. Genet Med. 2021. PMID: 33927380 Free article.

2

Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.

Brandt T, Sack LM, Arjona D, Tan D, Mei H, Cui H, Gao H, Bean LJH, Ankala A, Del Gaudio D, Knight Johnson A, Vincent LM, Reavey C, Lai A, Richard G, Meck JM. Brandt T, et al. Among authors: bean ljh. Genet Med. 2020 Feb;22(2):336-344. doi: 10.1038/s41436-019-0655-2. Epub 2019 Sep 19. Genet Med. 2020. PMID: 31534211 Free article.

3

Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine.

Garber KB, Vincent LM, Alexander JJ, Bean LJH, Bale S, Hegde M. Garber KB, et al. Among authors: bean ljh. Am J Hum Genet. 2016 Nov 3;99(5):1140-1149. doi: 10.1016/j.ajhg.2016.09.015. Epub 2016 Oct 27. Am J Hum Genet. 2016. PMID: 27843123 Free PMC article.

4

Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Bean LJH, Funke B, Carlston CM, Gannon JL, Kantarci S, Krock BL, Zhang S, Bayrak-Toydemir P; ACMG Laboratory Quality Assurance Committee. Bean LJH, et al. Genet Med. 2020 Mar;22(3):453-461. doi: 10.1038/s41436-019-0666-z. Epub 2019 Nov 16. Genet Med. 2020. PMID: 31732716 Free article.

5

Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants.

Brandt T, Sack LM, Arjona D, Tan D, Mei H, Cui H, Gao H, Bean LJH, Ankala A, Del Gaudio D, Johnson AK, Vincent LM, Reavey C, Lai A, Richard G, Meck JM. Brandt T, et al. Among authors: bean ljh. Genet Med. 2020 Mar;22(3):670-671. doi: 10.1038/s41436-019-0725-5. Genet Med. 2020. PMID: 31844178 Free article.

6

DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG).

Bean LJH, Scheuner MT, Murray MF, Biesecker LG, Green RC, Monaghan KG, Palomaki GE, Sharp RR, Trotter TL, Watson MS, Powell CM; ACMG Board of Directors. Bean LJH, et al. Genet Med. 2021 Jun;23(6):979-988. doi: 10.1038/s41436-020-01083-9. Epub 2021 Mar 31. Genet Med. 2021. PMID: 33790423 Free article. No abstract available.

7

The virtual diagnostic laboratory: a new way of teaching undergraduate medical students about genetic testing.

Bean LJ, Fridovich-Keil J, Hegde M, Rudd MK, Garber KB. Bean LJ, et al. Genet Med. 2011 Nov;13(11):973-7. doi: 10.1097/GIM.0b013e318225ac13. Genet Med. 2011. PMID: 21811165 Free article.

8

Regulating whole exome sequencing as a diagnostic test.

Lapin V, Mighion LC, da Silva CP, Cuperus Y, Bean LJ, Hegde MR. Lapin V, et al. Hum Genet. 2016 Jun;135(6):655-73. doi: 10.1007/s00439-016-1677-3. Epub 2016 May 11. Hum Genet. 2016. PMID: 27167135 Review.

9

Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications.

Tayeh MK, Chin EL, Miller VR, Bean LJ, Coffee B, Hegde M. Tayeh MK, et al. Genet Med. 2009 Apr;11(4):232-40. doi: 10.1097/GIM.0b013e318195e191. Genet Med. 2009. PMID: 19282776 Free article.

10

A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.

Ankala A, da Silva C, Gualandi F, Ferlini A, Bean LJ, Collins C, Tanner AK, Hegde MR. Ankala A, et al. Ann Neurol. 2015 Feb;77(2):206-14. doi: 10.1002/ana.24303. Epub 2014 Dec 17. Ann Neurol. 2015. PMID: 25380242

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