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Baralle, Diana
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1

Unraveling GRIA1 neurodevelopmental disorders: Lessons lear..:

Tvergaard, Nicolai Kohring ; Tkemaladze, Tinatin ; Stödberg, Tommy...
Clinical Genetics.  , 2024
Link: https://doi.org/10.1111/..
 
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2

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

Markers of adipose tissue fibrogenesis associate with clini..:

Bilson, Josh ; Oquendo, Carolina J. ; Read, James...
Metabolism.  151 (2024)  - p. 155759 , 2024
Link: https://doi.org/10.1016/..
 
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4

Predicting the impact of rare variants on RNA splicing in C..:

Lord, Jenny ; Oquendo, Carolina Jaramillo ; Wai, Htoo A....
Human Genetics.  , 2024
Link: https://doi.org/10.1007/..
 
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5

Biallelic PRMT7 pathogenic variants are associated with a r..:

Cali, Elisa ; Suri, Mohnish ; Scala, Marcello...
Genetics in Medicine.  25 (2023)  1 - p. 135-142 , 2023
Link: https://doi.org/10.1016/..
 
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6

Pathogenic TRIO variants associated with neurodevelopmental..:

Bonnet, Maxime ; Roche, Fiona ; Fagotto-Kaufmann, Christine...
Molecular Psychiatry.  28 (2023)  4 - p. 1527-1544 , 2023
Link: https://doi.org/10.1038/..
 
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7

PhenoScore quantifies phenotypic variation for rare genetic..:

Dingemans, Alexander J. M. ; Hinne, Max ; Truijen, Kim M. G....
Nature Genetics.  55 (2023)  9 - p. 1598-1607 , 2023
Link: https://doi.org/10.1038/..
 
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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

Extending the phenotypes associated with TRIO gene variants..:

Gazdagh, Gabriella ; Hunt, David ; Gonzalez, Anna Maria Cueto...
American Journal of Medical Genetics Part A.  191 (2023)  7 - p. 1722-1740 , 2023
Link: https://doi.org/10.1002/..
 
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10

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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11

Reduced penetrance of gene variants causing amyotrophic lat..:

Douglas, Andrew G L ; Baralle, Diana
Journal of Medical Genetics.  , 2023
Link: https://doi.org/10.1136/..
 
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12

A systematic analysis of splicing variants identifies new d..:

Blakes, Alexander J. M. ; Wai, Htoo A. ; Davies, Ian...
Genome Medicine.  14 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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13

Blood gene expression predicts intensive care unit admissio..:

Penrice-Randal, Rebekah ; Dong, Xiaofeng ; Shapanis, Andrew George...
Frontiers in Immunology.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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14

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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15

Short amplicon reverse transcription‐polymerase chain react..:

Wai, Htoo A. ; Constable, Matthew ; Drewes, Cosima...
Human Mutation.  43 (2022)  7 - p. 963-970 , 2022
Link: https://doi.org/10.1002/..
 
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