Response to Biesecker et al

Joseph J Shen^{1

2}, Saskia B Wortmann^{3

4}, Leo A J Kluijtmans⁵, Christin D Collins⁶, Robin van der Lee⁷, Clara D M van Karnebeek^{4

7

8

9}, Madhuri R Hegde^{6

10}

Affiliations

¹ Division of Genetics, Department of Pediatrics, UCSF Fresno, Fresno, CA, USA. jojshen@ucdavis.edu.
² Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, CA, USA. jojshen@ucdavis.edu.
³ University Children's Hospital, PMU Salzburg, Salzburg, Austria.
⁴ Radboud Centre for Mitochondrial Medicine, Department of Paediatrics, Amalia Children's Hospital, Nijmegen, The Netherlands.
⁵ Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Centre, Nijmegen, The Netherlands.
⁶ PerkinElmer Genomics, Duluth, GA, USA.
⁷ Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.
⁸ Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.
⁹ Department of Paediatrics, Emma Children's Hospital, Amsterdam University Medical Centre, Amsterdam, The Netherlands.
¹⁰ Department of Applied Biology, Georgia Institute of Technology, Atlanta, GA, USA.

Free article

Comment

Joseph J Shen et al. Genet Med. 2021 Apr.

Free article

. 2021 Apr;23(4):793-794.

doi: 10.1038/s41436-020-01055-z. Epub 2021 Jan 8.

Joseph J Shen^{1

2}, Saskia B Wortmann^{3

4}, Leo A J Kluijtmans⁵, Christin D Collins⁶, Robin van der Lee⁷, Clara D M van Karnebeek^{4

7

8

9}, Madhuri R Hegde^{6

10}

¹ Division of Genetics, Department of Pediatrics, UCSF Fresno, Fresno, CA, USA. jojshen@ucdavis.edu.
² Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, CA, USA. jojshen@ucdavis.edu.
³ University Children's Hospital, PMU Salzburg, Salzburg, Austria.
⁴ Radboud Centre for Mitochondrial Medicine, Department of Paediatrics, Amalia Children's Hospital, Nijmegen, The Netherlands.
⁵ Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Centre, Nijmegen, The Netherlands.
⁶ PerkinElmer Genomics, Duluth, GA, USA.
⁷ Department of Medical Genetics, Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.
⁸ Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.
⁹ Department of Paediatrics, Emma Children's Hospital, Amsterdam University Medical Centre, Amsterdam, The Netherlands.
¹⁰ Department of Applied Biology, Georgia Institute of Technology, Atlanta, GA, USA.

No abstract available

Comment on

The role of clinical response to treatment in determining pathogenicity of genomic variants.
Shen JJ, Wortmann SB, de Boer L, Kluijtmans LAJ, Huigen MCDG, Koch J, Ross S, Collins CD, van der Lee R, van Karnebeek CDM, Hegde MR. Shen JJ, et al. Genet Med. 2021 Mar;23(3):581-585. doi: 10.1038/s41436-020-00996-9. Epub 2020 Oct 22. Genet Med. 2021. PMID: 33087887
Correspondence on "The role of clinical response to treatment in determining pathogenicity of genomic variants" by Shen et al.
Biesecker LG, Harrison SM, Rehm HL. Biesecker LG, et al. Genet Med. 2021 Mar;23(3):586. doi: 10.1038/s41436-020-01032-6. Epub 2020 Nov 6. Genet Med. 2021. PMID: 33154565 No abstract available.

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