Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Htoo A Wai^#¹, Jenny Lord^#¹, Matthew Lyon², Adam Gunning³, Hugh Kelly¹, Penelope Cibin¹, Eleanor G Seaby^{1

4}, Kerry Spiers-Fitzgerald¹, Jed Lye¹, Sian Ellard³, N Simon Thomas^{1

2}, David J Bunyan^{1

2}, Andrew G L Douglas^#^{1

5}, Diana Baralle^#^{6

7}; Splicing and disease working group

Collaborators, Affiliations

Collaborators

Splicing and disease working group:
Swati Naik, Nicola Ragge, Helen Cox, Jenny Morton, Mary O'Driscoll, Derek Lim, Deborah Osio, Frances Elmslie, Camilla Huber, Julie Hewitt, Heidy Brandon, Meriel McEntagart, Sahar Mansour, Nayana Lahiri, Esther Dempsey, Merrie Manalo, Tessa Homfray, Anand Saggar, Jin Li, Julian Barwell, Kate Chandler, Tracy Briggs, Sofia Douzgou, Julian Adlard, Alison Kraus, Sarju Mehta, Amy Watford, Alan Donaldson, Karen Low, Gabriela Jones, Abhijit Dixit, Elizabeth King, Nora Shannon, Marios Kaliakatsos, Merrie Manalo, Shelagh Joss, Meena Balasubramanian, Diana Johnson, Sarah Everest, Claire Salter, Victoria Harrison, Gillian Wise, Audrey Torokwa, Victoria Sands, Esther Pyle, Tessy Thomas, Katherine Lachlan, Nicola Foulds, Andrew Lotery, Andrew Douglas, Simon Hammans, Emily Pond, Rachel Horton, Mira Kharbanda, David Hunt, Charlene Thomas, Lucy Side, Catherine Willis, Stephanie Greville-Heygate, Rebecca Mawby, Catherine Mercer, Karen Temple, Esther Kinning, Ognjen Bojovic, L Archer

Affiliations

¹ Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
² Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK.
³ Exeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.
⁴ Translational Genomics Unit, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
⁵ Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
⁶ Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK. d.baralle@soton.ac.uk.
⁷ Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK. d.baralle@soton.ac.uk.

^# Contributed equally.

PMID: 32235935
PMCID: PMC7272324
DOI: 10.1038/s41436-020-0789-2

Published Erratum

Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Htoo A Wai et al. Genet Med. 2020 Jun.

. 2020 Jun;22(6):1129.

doi: 10.1038/s41436-020-0789-2.

Authors

Collaborators

Splicing and disease working group:
Swati Naik, Nicola Ragge, Helen Cox, Jenny Morton, Mary O'Driscoll, Derek Lim, Deborah Osio, Frances Elmslie, Camilla Huber, Julie Hewitt, Heidy Brandon, Meriel McEntagart, Sahar Mansour, Nayana Lahiri, Esther Dempsey, Merrie Manalo, Tessa Homfray, Anand Saggar, Jin Li, Julian Barwell, Kate Chandler, Tracy Briggs, Sofia Douzgou, Julian Adlard, Alison Kraus, Sarju Mehta, Amy Watford, Alan Donaldson, Karen Low, Gabriela Jones, Abhijit Dixit, Elizabeth King, Nora Shannon, Marios Kaliakatsos, Merrie Manalo, Shelagh Joss, Meena Balasubramanian, Diana Johnson, Sarah Everest, Claire Salter, Victoria Harrison, Gillian Wise, Audrey Torokwa, Victoria Sands, Esther Pyle, Tessy Thomas, Katherine Lachlan, Nicola Foulds, Andrew Lotery, Andrew Douglas, Simon Hammans, Emily Pond, Rachel Horton, Mira Kharbanda, David Hunt, Charlene Thomas, Lucy Side, Catherine Willis, Stephanie Greville-Heygate, Rebecca Mawby, Catherine Mercer, Karen Temple, Esther Kinning, Ognjen Bojovic, L Archer

Affiliations

¹ Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.
² Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK.
³ Exeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.
⁴ Translational Genomics Unit, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
⁵ Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
⁶ Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK. d.baralle@soton.ac.uk.
⁷ Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK. d.baralle@soton.ac.uk.

^# Contributed equally.

PMID: 32235935
PMCID: PMC7272324
DOI: 10.1038/s41436-020-0789-2

Abstract

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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Erratum for

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Wai HA, Lord J, Lyon M, Gunning A, Kelly H, Cibin P, Seaby EG, Spiers-Fitzgerald K, Lye J, Ellard S, Thomas NS, Bunyan DJ, Douglas AGL, Baralle D; Splicing and disease working group. Wai HA, et al. Genet Med. 2020 Jun;22(6):1005-1014. doi: 10.1038/s41436-020-0766-9. Epub 2020 Mar 3. Genet Med. 2020. PMID: 32123317 Free PMC article.

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Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Collaborators

Affiliations

Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Authors

Collaborators

Affiliations

Abstract

Erratum for

Publication types

Grants and funding

LinkOut - more resources

Full Text Sources