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Ellingford, Jamie M
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1

EyeG2P: an automated variant filtering approach improves ef..:

Lenassi, Eva ; Carvalho, Ana ; Thormann, Anja...
Journal of Medical Genetics.  60 (2023)  8 - p. 810-818 , 2023
Link: https://doi.org/10.1136/..
 
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2

HNRNPC haploinsufficiency affects alternative splicing of i..:

Niggl, Eva ; Bouman, Arjan ; Briere, Lauren C....
The American Journal of Human Genetics.  110 (2023)  8 - p. 1414-1435 , 2023
Link: https://doi.org/10.1016/..
 
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3

Germline intergenic duplications at Xq26.1 underlie Bazex–D..:

Liu, Yanshan ; Banka, Siddharth ; Huang, Yingzhi...
British Journal of Dermatology.  187 (2022)  6 - p. 948-961 , 2022
Link: https://doi.org/10.1111/..
 
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4

Recommendations for clinical interpretation of variants fou..:

Ellingford, Jamie M. ; Ahn, Joo Wook ; Bagnall, Richard D....
Genome Medicine.  14 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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5

Clinical and genetic findings in TRPM1‐related congenital s..:

Iosifidis, Christos ; Liu, Jingshu ; Gale, Theodora...
Acta Ophthalmologica.  100 (2022)  6 - p. , 2022
Link: https://doi.org/10.1111/..
 
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6

MRSD: A quantitative approach for assessing suitability of ..:

Rowlands, Charlie F. ; Taylor, Algy ; Rice, Gillian...
The American Journal of Human Genetics.  109 (2022)  2 - p. 210-222 , 2022
Link: https://doi.org/10.1016/..
 
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7

Multidisciplinary team directed analysis of whole genome se..:

Daich Varela, Malena ; Bellingham, James ; Motta, Fabiana...
Human Molecular Genetics.  32 (2022)  4 - p. 595-607 , 2022
Link: https://doi.org/10.1093/..
 
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8

Gene Panel Testing for Breast Cancer Reveals Differential E..:

Evans, D. Gareth ; van Veen, Elke M. ; Woodward, Emma R....
Cancers.  13 (2021)  16 - p. 4154 , 2021
Link: https://doi.org/10.3390/..
 
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9

Correction: Clinical utility of genetic testing in 201 pres..:

Lenassi, Eva ; Clayton-Smith, Jill ; Douzgou, Sofia...
Genetics in Medicine.  23 (2021)  10 - p. 2023 , 2021
Link: https://doi.org/10.1038/..
 
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10

Improving the clinical interpretation of missense variants ..:

Sallah, Shalaw Rassul ; Ellingford, Jamie M ; Sergouniotis, Panagiotis I...
Journal of Medical Genetics.  59 (2021)  4 - p. 385-392 , 2021
Link: https://doi.org/10.1136/..
 
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11

Pathogenic Intronic Splice-Affecting Variants in MYBPC3 in ..:

Wood, Katherine A. ; Ellingford, Jamie M. ; Eden, James...
Cardiogenetics.  11 (2021)  2 - p. 73-83 , 2021
Link: https://doi.org/10.3390/..
 
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12

Molecular diagnoses in the congenital malformations caused ..:

Best, Sunayna ; Lord, Jenny ; Roche, Matthew...
Journal of Medical Genetics.  59 (2021)  8 - p. 737-747 , 2021
Link: https://doi.org/10.1136/..
 
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13

Extended gene panel testing in lobular breast cancer:

van Veen, Elke M. ; Evans, D. Gareth ; Harkness, Elaine F....
Familial Cancer.  21 (2021)  2 - p. 129-136 , 2021
Link: https://doi.org/10.1007/..
 
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14

Clinical utility of testing for PALB2 and CHEK2 c.1100delC ..:

Woodward, Emma R. ; van Veen, Elke M. ; Forde, Claire...
Genetics in Medicine.  23 (2021)  10 - p. 1969-1976 , 2021
Link: https://doi.org/10.1038/..
 
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15

High penetrance of myeloid neoplasia with diverse clinical ..:

Ellingford, Jamie M. ; Telford, Nick ; Urquhart, Jill...
Cancer Genetics.  256-257 (2021)  - p. 77-80 , 2021
Link: https://doi.org/10.1016/..
 
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