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Shovlin, Claire L.
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1

Specifications of the ACMG/AMP Variant Curation Guidelines ..:

DeMille, Desiree ; McDonald, Jamie ; Bernabeu, Carmelo...
Human Mutation.  2024 (2024)  - p. 1-13 , 2024
Link: https://doi.org/10.1155/..
 
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2

Integration of genotypic data into clinical trial design an..:

Modarresi, Atieh ; Shovlin, Claire L.
Haematologica.  , 2024
Link: https://doi.org/10.3324/..
 
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3

Mutations causing premature termination codons discriminate..:

Bernabéu-Herrero, Maria E. ; Patel, Dilipkumar ; Bielowka, Adrianna...
Blood.  143 (2024)  22 - p. 2314-2331 , 2024
Link: https://doi.org/10.1182/..
 
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4

MEK 1 inhibition and bleeding in hereditary haemorrhagic te..:

Shovlin, Claire L. ; Patel, Dilip ; Bielowka, Adrianna...
British Journal of Haematology.  204 (2023)  1 - p. 361-365 , 2023
Link: https://doi.org/10.1111/..
 
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5

Unsupervised machine learning algorithms identify expected ..:

Mukhtar, Ghazel ; Shovlin, Claire L.
eJHaem.  4 (2023)  3 - p. 602-611 , 2023
Link: https://doi.org/10.1002/..
 
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6

Iron deficiency responses and integrated compensations in p..:

Sharma, Lakshya ; Almaghlouth, Fatma ; Mckernan, Heidi...
Haematologica.  109 (2023)  3 - p. 958-962 , 2023
Link: https://doi.org/10.3324/..
 
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7

Pharmacogenomic Considerations for Anticoagulant Prescripti..:

McCarley, Sarah ; Murphy, Daniel ; Thompson, Jack.
Journal of Clinical Medicine.  12 (2023)  24 - p. 7710 , 2023
Link: https://doi.org/10.3390/..
 
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8

Pathogenic Variant Frequencies in Hereditary Haemorrhagic T..:

Jain, Kinshuk ; McCarley, Sarah C. ; Mukhtar, Ghazel...
Journal of Clinical Medicine.  13 (2023)  1 - p. 250 , 2023
Link: https://doi.org/10.3390/..
 
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9

Comment on Kilian et al. Comparing Characteristics and Trea..:

Eker, Omer F. ; Dupuis-Girod, Sophie ; Shovlin, Claire L..
Journal of Clinical Medicine.  12 (2023)  22 - p. 7179 , 2023
Link: https://doi.org/10.3390/..
 
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10

Updates on diagnostic criteria for hereditary haemorrhagic ..:

Shovlin, Claire L ; Almaghlouth, Fatma I ; Alsafi, Ali...
Journal of Medical Genetics.  61 (2023)  2 - p. 182-185 , 2023
Link: https://doi.org/10.1136/..
 
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11

Functional filter for whole-genome sequencing data identifi..:

Xiao, Sihao ; Kai, Zhentian ; Murphy, Daniel...
The American Journal of Human Genetics.  110 (2023)  11 - p. 1903-1918 , 2023
Link: https://doi.org/10.1016/..
 
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12

Pulmonary arteriovenous malformations may be the only clini..:

Anderson, Emily ; Sharma, Lakshya ; Alsafi, Ali.
Thorax.  77 (2022)  6 - p. 628-630 , 2022
Link: https://doi.org/10.1136/..
 
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13

Ischemic Stroke and Pulmonary Arteriovenous Malformations: ..:

Topiwala, Karan K. ; Patel, Smit D. ; Saver, Jeffrey L...
Neurology.  98 (2022)  5 - p. 188-198 , 2022
Link: https://doi.org/10.1212/..
 
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14

European Reference Network for Rare Vascular Diseases (VASC..:

Dupuis-Girod, Sophie ; Shovlin, Claire L. ; Kjeldsen, Anette D....
European Journal of Medical Genetics.  65 (2022)  10 - p. 104575 , 2022
Link: https://doi.org/10.1016/..
 
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15

Whole genome sequences discriminate hereditary hemorrhagic ..:

Joyce, Katie E. ; Onabanjo, Ebun ; Brownlow, Sheila...
Blood Advances.  6 (2022)  13 - p. 3956-3969 , 2022
Link: https://doi.org/10.1182/..
 
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