Optimizing the Diagnosis of Rare Genomic Disease in the UK and Ireland

Caroline F Wright; Patrick Campbell; Ruth Y. Eberhardt; Stuart Aitken; Daniel Perrett; Simon Brent; Petr Danecek; Eugene J. Gardner; V Kartik Chundru; Sarah J Lindsay; Katrina A Andrews; Juliet Hampstead; Joanna Kaplanis; Kaitlin E. Samocha; Anna Middleton; Julia Foreman; Rachel J. Hobson; Michael J. Parker; Hilary C Martin; David R FitzPatrick; Matthew E Hurles; Helen V.  Firth

Optimizing the Diagnosis of Rare Genomic Disease in the UK and Ireland

Caroline F Wright, Patrick Campbell, Ruth Y. Eberhardt, Stuart Aitken, Daniel Perrett, Simon Brent, Petr Danecek, Eugene J. Gardner, V Kartik Chundru, Sarah J Lindsay, Katrina A Andrews, Juliet Hampstead, Joanna Kaplanis, Kaitlin E. Samocha, Anna Middleton, Julia Foreman, Rachel J. Hobson, Michael J. Parker, Hilary C Martin, David R FitzPatrickMatthew E Hurles, Helen V. Firth

Research output: Contribution to journal › Article › peer-review

Original language	English
Journal	New England Journal of Medicine
Publication status	Published - 27 Apr 2023

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AAM_Wright-22-09046-Text
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Cite this

Wright, C. F., Campbell, P., Eberhardt, R. Y., Aitken, S., Perrett, D., Brent, S., Danecek, P., Gardner, E. J., Chundru, V. K., Lindsay, S. J., Andrews, K. A., Hampstead, J., Kaplanis, J., Samocha, K. E., Middleton, A., Foreman, J., Hobson, R. J., Parker, M. J., Martin, H. C., ... Firth, H. V. (2023). Optimizing the Diagnosis of Rare Genomic Disease in the UK and Ireland. New England Journal of Medicine.

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title = "Optimizing the Diagnosis of Rare Genomic Disease in the UK and Ireland",

author = "Wright, {Caroline F} and Patrick Campbell and Eberhardt, {Ruth Y.} and Stuart Aitken and Daniel Perrett and Simon Brent and Petr Danecek and Gardner, {Eugene J.} and Chundru, {V Kartik} and Lindsay, {Sarah J} and Andrews, {Katrina A} and Juliet Hampstead and Joanna Kaplanis and Samocha, {Kaitlin E.} and Anna Middleton and Julia Foreman and Hobson, {Rachel J.} and Parker, {Michael J.} and Martin, {Hilary C} and FitzPatrick, {David R} and Hurles, {Matthew E} and Firth, {Helen V.}",

year = "2023",

month = apr,

day = "27",

language = "English",

journal = "New England Journal of Medicine",

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Wright, CF, Campbell, P, Eberhardt, RY, Aitken, S, Perrett, D, Brent, S, Danecek, P, Gardner, EJ, Chundru, VK, Lindsay, SJ, Andrews, KA, Hampstead, J, Kaplanis, J, Samocha, KE, Middleton, A, Foreman, J, Hobson, RJ, Parker, MJ, Martin, HC, FitzPatrick, DR, Hurles, ME & Firth, HV 2023, 'Optimizing the Diagnosis of Rare Genomic Disease in the UK and Ireland', New England Journal of Medicine.

TY - JOUR

T1 - Optimizing the Diagnosis of Rare Genomic Disease in the UK and Ireland

AU - Wright, Caroline F

AU - Campbell, Patrick

AU - Eberhardt, Ruth Y.

AU - Aitken, Stuart

AU - Perrett, Daniel

AU - Brent, Simon

AU - Danecek, Petr

AU - Gardner, Eugene J.

AU - Chundru, V Kartik

AU - Lindsay, Sarah J

AU - Andrews, Katrina A

AU - Hampstead, Juliet

AU - Kaplanis, Joanna

AU - Samocha, Kaitlin E.

AU - Middleton, Anna

AU - Foreman, Julia

AU - Hobson, Rachel J.

AU - Parker, Michael J.

AU - Martin, Hilary C

AU - FitzPatrick, David R

AU - Hurles, Matthew E

AU - Firth, Helen V.

PY - 2023/4/27

Y1 - 2023/4/27

M3 - Article

SN - 0028-4793

JO - New England Journal of Medicine

JF - New England Journal of Medicine

ER -