Response to Bai et al

Lee-Jun C Wong^#^{1

2}, Ting Chen^#^{3

4}, Eric S Schmitt^#^{3

5}, Jing Wang^{3

6}, Shulin Zhang^{3

7}, Megan Landsverk^{3

8}, Fangyuan Li^{3

9}, Sha Tang^{3

10}, Yue Wang^{3

5}, Victor Wei Zhang^{3

11}, William J Craigen^{3

5}

Affiliations

¹ Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. ljwong@bcm.edu.
² Baylor Genetics Laboratory, Houston, TX, USA. ljwong@bcm.edu.
³ Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
⁴ Department of Endocrinology, Genetics and Metabolism, Children's Hospital of Soochow University, Suzhou, China.
⁵ Baylor Genetics Laboratory, Houston, TX, USA.
⁶ Children's Hospital of Philadelphia, Philadelphia, PA, USA.
⁷ Department of Pathology and Laboratory Medicine, UKHealthCare, University of Kentucky, Lexington, USA.
⁸ Global Laboratory Services/Diagnostics, Perkin Elmer, Waltham, MA, USA.
⁹ Sema4, Branford, CT, USA.
¹⁰ WuXi NextCODE, Cambridge, MA, USA.
¹¹ AmCare Genomics Lab, Guangzhou, China.

^# Contributed equally.

PMID: 32418988
DOI: 10.1038/s41436-020-0805-6

Free article

Comment

Response to Bai et al

Lee-Jun C Wong et al. Genet Med. 2020 Aug.

Free article

. 2020 Aug;22(8):1420-1421.

doi: 10.1038/s41436-020-0805-6. Epub 2020 May 18.

Authors

Affiliations

¹ Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. ljwong@bcm.edu.
² Baylor Genetics Laboratory, Houston, TX, USA. ljwong@bcm.edu.
³ Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
⁴ Department of Endocrinology, Genetics and Metabolism, Children's Hospital of Soochow University, Suzhou, China.
⁵ Baylor Genetics Laboratory, Houston, TX, USA.
⁶ Children's Hospital of Philadelphia, Philadelphia, PA, USA.
⁷ Department of Pathology and Laboratory Medicine, UKHealthCare, University of Kentucky, Lexington, USA.
⁸ Global Laboratory Services/Diagnostics, Perkin Elmer, Waltham, MA, USA.
⁹ Sema4, Branford, CT, USA.
¹⁰ WuXi NextCODE, Cambridge, MA, USA.
¹¹ AmCare Genomics Lab, Guangzhou, China.

^# Contributed equally.

PMID: 32418988
DOI: 10.1038/s41436-020-0805-6

No abstract available

PubMed Disclaimer

Comment on

Comment on the criteria for interpretation of mitochondrial tRNA variants.
Bai R, Balog A, Kiesler P, Arjona D, Cui H. Bai R, et al. Genet Med. 2020 Aug;22(8):1418-1419. doi: 10.1038/s41436-020-0804-7. Epub 2020 May 18. Genet Med. 2020. PMID: 32418987 No abstract available.

References

1. Bai R. Response to “Interpretation of mitochondrial tRNA variants”. Genet Med. 2020 (this issue).
1. Wong L-JC, Chen T, Wang J, et al. Interpretation of mitochondrial tRNA variants. Genet Med. 2020 Jan 22; https://doi.org/10.1038/s41436-019-0746-0 [Epub ahead of print].
1. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405. - DOI
1. Yarham JW, Al-Dosary M, Blakely EL, et al. A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations. Hum Mutat. 2011;32:1319–1325. - DOI
1. Wong LJC, Yim D, Bai RK, et al. A novel mutation in the mitochondrial tRNASer(AGY) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency. J Med Genet. 2006;43:1–7. - DOI

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Response to Bai et al

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Response to Bai et al

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