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Poulter, James A
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1

IDHwt glioblastomas can be stratified by their transcriptio..:

Tanner, Georgette ; Barrow, Rhiannon ; Ajaib, Shoaib...
Genome Biology.  25 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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2

The contradictory role of febuxostat in ABCG2 expression an..:

King, Aaron ; Maisey, Thomas ; Harris, Erica L....
Photochemical & Photobiological Sciences.  23 (2024)  6 - p. 1067-1075 , 2024
Link: https://doi.org/10.1007/..
 
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3

A recurrent de novo MAX p.Arg60Gln variant causes a syndrom..:

Harris, Erica L. ; Roy, Vincent ; Montagne, Martin...
The American Journal of Human Genetics.  111 (2024)  1 - p. 119-132 , 2024
Link: https://doi.org/10.1016/..
 
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4

Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis..:

Smith, Claire E L ; Laugel-Haushalter, Virginie ; Hany, Ummey...
Journal of Medical Genetics.  61 (2024)  7 - p. 689-698 , 2024
Link: https://doi.org/10.1136/..
 
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5

Recovery of Bone Marrow Function in VEXAS Syndrome-potentia..:

Al-Hakim, Adam ; Cull, Alyssa ; Topping, Joanna...
HemaSphere.  7 (2023)  8 - p. e934 , 2023
Link: https://doi.org/10.1097/..
 
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6

Cost-effective sequence analysis of 113 genes in 1,192 prob..:

Panneman, Daan M. ; Hitti-Malin, Rebekkah J. ; Holtes, Lara K....
Frontiers in Cell and Developmental Biology.  11 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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7

Late-Onset Autosomal Dominant Macular Degeneration Caused b..:

Yahya, Samar ; Smith, Claire E.L. ; Poulter, James A....
Ophthalmology.  130 (2023)  1 - p. 68-76 , 2023
Link: https://doi.org/10.1016/..
 
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8

LONGITUDINAL WGS AND WES OF GLIOBLASTOMA REVEAL POTENTIAL P..:

Alghamdi, Yousef ; Tanner, Georgette ; Finetti, Martina...
Neuro-Oncology.  25 (2023)  Supplement_3 - p. iii1-iii2 , 2023
Link: https://doi.org/10.1093/..
 
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9

HeterozygousCOL17A1variants are a frequent cause of ameloge..:

Hany, Ummey ; Watson, Christopher M ; Liu, Lu...
Journal of Medical Genetics.  61 (2023)  4 - p. 347-355 , 2023
Link: https://doi.org/10.1136/..
 
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10

D-Type Cyclins in Development and Disease:

Saleban, Mostafa ; Harris, Erica L. ; Poulter, James A.
Genes.  14 (2023)  7 - p. 1445 , 2023
Link: https://doi.org/10.3390/..
 
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11

Targeted nanopore sequencing enables complete characterisat..:

McClinton, Benjamin ; Crinnion, Laura A. ; McKibbin, Martin...
Molecular Genetics & Genomic Medicine.  11 (2023)  6 - p. , 2023
Link: https://doi.org/10.1002/..
 
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12

De novo missense variants in RRAGC lead to a fatal mTORopat..:

Reijnders, Margot R.F. ; Seibt, Annette ; Brugger, Melanie...
Genetics in Medicine.  25 (2023)  7 - p. 100838 , 2023
Link: https://doi.org/10.1016/..
 
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13

Molecular diagnoses in the congenital malformations caused ..:

Best, Sunayna ; Lord, Jenny ; Roche, Matthew...
Acta Ophthalmologica.  100 (2022)  S267 - p. , 2022
Link: https://doi.org/10.1111/..
 
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14

Modulation of GABA Neurotransmitter Signalling Impacts Glio..:

Barrow, Rhiannon ; Poulter, James A ; Finetti, Martina A...
Neuro-Oncology.  24 (2022)  Supplement_4 - p. iv3-iv4 , 2022
Link: https://doi.org/10.1093/..
 
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15

SLC38A8 mutation spectrum in foveal hypoplasia:

Derar, Mohammed ; Lord, Emma C. ; Poulter, James A....
Acta Ophthalmologica.  100 (2022)  S267 - p. , 2022
Link: https://doi.org/10.1111/..
 
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