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Seaby, Eleanor G
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1

Modelling human genetic disorders in Xenopus tropicalis:

Willsey, Helen Rankin ; Seaby, Eleanor G. ; Godwin, Annie...
Disease Models & Mechanisms.  17 (2024)  5 - p. , 2024
Link: https://doi.org/10.1242/..
 
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A gene pathogenicity tool "GenePy" identifies missed bialle..:

Seaby, Eleanor G. ; Leggatt, Gary ; Cheng, Guo...
Genetics in Medicine.  26 (2024)  4 - p. 101073 , 2024
Link: https://doi.org/10.1016/..
 
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3

Immunoglobulin, glucocorticoid, or combination therapy for ..:

Channon-Wells, Samuel ; Vito, Ortensia ; McArdle, Andrew J...
The Lancet Rheumatology.  5 (2023)  4 - p. e184-e199 , 2023
Link: https://doi.org/10.1016/..
 
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4

A Palindrome-Like Structure on 16p13.3 Is Associated with t..:

Pagnamenta, Alistair T. ; Yu, Jing ; Willis, Tracey A....
Human Mutation.  2023 (2023)  - p. 1-9 , 2023
Link: https://doi.org/10.1155/..
 
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5

The Pediatric Crohn Disease Morbidity Index (PCD-MI): Devel..:

Ashton, James J. ; Gurung, Abhilasha ; Davis, Cai...
Journal of Pediatric Gastroenterology & Nutrition.  77 (2023)  1 - p. 70-78 , 2023
Link: https://doi.org/10.1097/..
 
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6

Advanced variant classification framework reduces the false..:

Singer-Berk, Moriel ; Gudmundsson, Sanna ; Baxter, Samantha...
The American Journal of Human Genetics.  110 (2023)  9 - p. 1496-1508 , 2023
Link: https://doi.org/10.1016/..
 
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7

A Role for Genetic Modifiers in Tubulointerstitial Kidney D..:

Leggatt, Gary P. ; Seaby, Eleanor G. ; Veighey, Kristin...
Genes.  14 (2023)  8 - p. 1582 , 2023
Link: https://doi.org/10.3390/..
 
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8

A Panel-Agnostic Strategy 'HiPPo' Improves Diagnostic Effic..:

Seaby, Eleanor G. ; Thomas, N. Simon ; Hunt, David...
Healthcare.  11 (2023)  24 - p. 3179 , 2023
Link: https://doi.org/10.3390/..
 
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9

Impaired expression of metallothioneins contributes to alle..:

Sirvent, Sofia ; Vallejo, Andres F. ; Corden, Emma...
Nature Communications.  14 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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10

A clustering of heterozygous missense variants in the cruci..:

Snijders Blok, Lot ; Verseput, Jolijn ; Rots, Dmitrijs...
Human Genetics and Genomics Advances.  4 (2023)  1 - p. 100157 , 2023
Link: https://doi.org/10.1016/..
 
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11

Response to Ramos et al:

Seaby, Eleanor G. ; Baralle, Diana ; Rehm, Heidi L...
Genetics in Medicine.  24 (2022)  12 - p. 2593-2594 , 2022
Link: https://doi.org/10.1016/..
 
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12

De novo putative loss‐of‐function variants inTAF4are associ..:

Janssen, Beau D. E. ; van den Boogaard, Marie‐Jose H. ; Lichtenbelt, Klaske...
Human Mutation.  43 (2022)  12 - p. 1844-1851 , 2022
Link: https://doi.org/10.1002/..
 
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13

A gene-to-patient approach uplifts novel disease gene disco..:

Seaby, Eleanor G. ; Smedley, Damian ; Taylor Tavares, Ana Lisa...
Genetics in Medicine.  24 (2022)  8 - p. 1697-1707 , 2022
Link: https://doi.org/10.1016/..
 
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14

Targeting de novo loss-of-function variants in constrained ..:

Seaby, Eleanor G. ; Thomas, N. Simon ; Webb, Amy...
Human Genetics.  142 (2022)  3 - p. 351-362 , 2022
Link: https://doi.org/10.1007/..
 
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15

A novel variant in GATM causes idiopathic renal Fanconi syn..:

Seaby, Eleanor G. ; Turner, Steven ; Bunyan, David J....
Clinical Genetics.  103 (2022)  2 - p. 214-218 , 2022
Link: https://doi.org/10.1111/..
 
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