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Dreau, Helene
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1

Structural and non-coding variants increase the diagnostic ..:

Pagnamenta, Alistair T. ; Camps, Carme ; Giacopuzzi, Edoardo...
Genome Medicine.  15 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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2

Whole-genome sequencing of chronic lymphocytic leukemia ide..:

Robbe, Pauline ; Ridout, Kate E. ; Vavoulis, Dimitrios V....
Nature Genetics.  54 (2022)  11 - p. 1675-1689 , 2022
Link: https://doi.org/10.1038/..
 
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3

Clinical utility of whole-genome sequencing in precision on..:

Rosenquist, Richard ; Cuppen, Edwin ; Buettner, Reinhard...
Seminars in Cancer Biology.  84 (2022)  - p. 32-39 , 2022
Link: https://doi.org/10.1016/..
 
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4

Validation of clinical‐grade whole genome sequencing reprod..:

Lomas, Oliver C. ; Gooding, Sarah ; Cabes, Maite...
eJHaem.  2 (2021)  4 - p. 809-812 , 2021
Link: https://doi.org/10.1002/..
 
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5

Short and long-read genome sequencing methodologies for som..:

Roberts, Hannah E. ; Lopopolo, Maria ; Pagnamenta, Alistair T....
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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6

Bi-allelic MCM10 variants associated with immune dysfunctio..:

Baxley, Ryan M. ; Leung, Wendy ; Schmit, Megan M....
Nature Communications.  12 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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7

The complete costs of genome sequencing: a microcosting stu..:

Schwarze, Katharina ; Buchanan, James ; Fermont, Jilles M....
Genetics in Medicine.  22 (2020)  1 - p. 85-94 , 2020
Link: https://doi.org/10.1038/..
 
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8

Clinical‐grade validation of whole genome sequencing reveal..:

Klintman, Jenny ; Barmpouti, Katerina ; Knight, Samantha J. L....
British Journal of Haematology.  182 (2018)  3 - p. 412-417 , 2018
Link: https://doi.org/10.1111/..
 
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9

The Genomic Landscape of Chronic Lymphocytic Leukaemia: Cli..:

Ridout, Kate ; Robbe, Pauline ; Vavoulis, Dimitris...
Clinical Lymphoma Myeloma and Leukemia.  18 (2018)  - p. S112-S115 , 2018
Link: https://doi.org/10.1016/..
 
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10

Clinical whole-genome sequencing from routine formalin-fixe..:

Robbe, Pauline ; Popitsch, Niko ; Knight, Samantha J.L....
Genetics in Medicine.  20 (2018)  10 - p. 1196-1205 , 2018
Link: https://doi.org/10.1038/..
 
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11

Sequence analysis of exon 1 of the ferritin light chain (FT..:

Bhuva, Meha ; Sen, Sambit ; Elsey, Terence...
British Journal of Haematology.  184 (2018)  6 - p. 1037-1040 , 2018
Link: https://doi.org/10.1111/..
 
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12

Characterisation of the changing genomic landscape of metas..:

Cutts, Anthony ; Venn, Oliver ; Dilthey, Alexander...
npj Genomic Medicine.  2 (2017)  1 - p. , 2017
Link: https://doi.org/10.1038/..
 
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13

A novel 33‐Gene targeted resequencing panel provides accura..:

Roy, Noémi B. A. ; Wilson, Edward A. ; Henderson, Shirley...
British Journal of Haematology.  175 (2016)  2 - p. 318-330 , 2016
Link: https://doi.org/10.1111/..
 
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14

Screening for clinically significant non-deletional alpha t..:

Haywood, Anna ; Dreau, Helene ; Timbs, Adele...
Annals of Hematology.  89 (2010)  12 - p. 1215-1221 , 2010
Link: https://doi.org/10.1007/..
 
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15

Provocation Testing and Therapeutic Response in a Newly Des..:

Ormerod, Julian O.M. ; Ormondroyd, Elizabeth ; Li, Yanhui...
Circulation: Genomic and Precision Medicine.  15 (2022)  1 - p. , 2022
Link: https://doi.org/10.1161/..
 
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