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Bowdin, Sarah
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1

Advancing diagnosis and research for rare genetic diseases ..:

Baynam, Gareth ; Julkowska, Daria ; Bowdin, Sarah...
Nature Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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2

The Cardiac Genome Clinic: implementing genome sequencing i..:

Reuter, Miriam S. ; Chaturvedi, Rajiv R. ; Liston, Eriskay...
Genetics in Medicine.  22 (2020)  6 - p. 1015-1024 , 2020
Link: https://doi.org/10.1038/..
 
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3

The Cardiac Genome Clinic: implementing genome sequencing i..:

Reuter, Miriam S ; Chaturvedi, Rajiv R ; Liston, Eriskay...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7272322/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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4

Whole genome sequencing reveals that genetic conditions are..:

NIHR BioResource—Rare Disease ; French, Courtney E. ; Delon, Isabelle...
Intensive Care Medicine.  45 (2019)  5 - p. 627-636 , 2019
Link: https://doi.org/10.1007/..
 
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5

Prolidase deficiency diagnosed by whole exome sequencing in..:

Rayment, Jonathan H. ; Jobling, Rebekah ; Bowdin, Sarah..
ERJ Open Research.  5 (2019)  2 - p. 00205-2018 , 2019
Link: https://doi.org/10.1183/..
 
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6

Whole genome sequencing reveals that genetic conditions are..:

French, Courtney E ; Delon, Isabelle ; Dolling, Helen...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6483967/.  , 2019
Link: http://www.ncbi.nlm.nih...
 
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7

Prolidase deficiency diagnosed by whole exome sequencing in..:

Rayment, Jonathan H ; Jobling, Rebekah ; Bowdin, Sarah..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6484094/.  , 2019
Link: http://www.ncbi.nlm.nih...
 
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8

Prolidase deficiency diagnosed by whole exome sequencing in..:

Jonathan H. Rayment ; Rebekah Jobling ; Sarah Bowdin..
http://openres.ersjournals.com/content/5/2/00205-2018.full.  , 2019
Link: https://doi.org/10.1183/..
 
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9

Whole genome sequencing reveals that genetic conditions are..:

French, Courtney E ; Delon, Isabelle ; Dolling, Helen...
French , C E , Delon , I , Dolling , H , Sanchis-Juan , A , Shamardina , O , Mégy , K , Abbs , S , Austin , T , Bowdin , S , Branco , R G , Firth , H , Williamson , C & Rowitch , D H & Raymond , F L & Dixon , P 2019 , ' Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children ' , Intensive Care Medicine , vol. 45 , no. 5 , pp. 627-636 . https://doi.org/10.1007/s00134-019-05552-x.  , 2019
Link: https://kclpure.kcl.ac.u..
 
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10

Whole genome sequencing reveals that genetic conditions are..:

French, Courtney E ; Delon, Isabelle ; Dolling, Helen...
doi:10.17863/CAM.39644.  , 2019
Link: https://doi.org/10.17863..
 
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11

Genome-wide sequencing expands the phenotypic spectrum of E..:

Costain, Gregory ; Kannu, Peter ; Bowdin, Sarah
European Journal of Medical Genetics.  61 (2018)  3 - p. 125-129 , 2018
Link: https://doi.org/10.1016/..
 
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12

Periodic reanalysis of whole-genome sequencing data enhance..:

Costain, Gregory ; Jobling, Rebekah ; Walker, Susan...
European Journal of Human Genetics.  26 (2018)  5 - p. 740-744 , 2018
Link: https://doi.org/10.1038/..
 
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13

The Personal Genome Project Canada: findings from whole gen..:

Reuter, Miriam S ; Walker, Susan ; Thiruvahindrapuram, Bhooma...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5798982/.  , 2018
Link: http://www.ncbi.nlm.nih...
 
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14

Periodic reanalysis of whole-genome sequencing data enhance..:

Costain, Gregory ; Jobling, Rebekah ; Walker, Susan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945683/.  , 2018
Link: http://www.ncbi.nlm.nih...
 
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15

Improved diagnostic yield compared with targeted gene seque..:

Lionel, Anath C ; Costain, Gregory ; Monfared, Nasim...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5895460/.  , 2018
Link: http://www.ncbi.nlm.nih...
 
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