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Bunyan, David J.
124  results:
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1

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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2

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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3

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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4

Rare dosage abnormalities flanking the SHOX gene:

Bunyan, David J. ; Gevers, Evelien ; Hobbs, James I....
Egyptian Journal of Medical Human Genetics.  22 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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5

AIFM1‐associated X‐linked spondylometaphyseal dysplasia wit..:

Edgerley, Katharine ; Barnicoat, Angela ; Offiah, Amaka C....
American Journal of Medical Genetics Part A.  185 (2021)  4 - p. 1228-1235 , 2021
Link: https://doi.org/10.1002/..
 
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6

SAT-LB17 Triplication of SHOX Downstream Region in Mild Sho..:

Gevers, Evelien F ; Bunyan, David J
Journal of the Endocrine Society.  4 (2020)  Supplement_1 - p. , 2020
Link: https://doi.org/10.1210/..
 
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7

Correction: Blood RNA analysis can increase clinical diagno..:

Wai, Htoo A. ; Lord, Jenny ; Lyon, Matthew...
Genetics in Medicine.  22 (2020)  6 - p. 1129 , 2020
Link: https://doi.org/10.1038/..
 
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8

Blood RNA analysis can increase clinical diagnostic rate an..:

Wai, Htoo A. ; Lord, Jenny ; Lyon, Matthew...
Genetics in Medicine.  22 (2020)  6 - p. 1005-1014 , 2020
Link: https://doi.org/10.1038/..
 
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9

Screening of a large PAX6 cohort identified many novel vari..:

Cross, Esther ; Duncan-Flavell, Philippa J. ; Howarth, Rachel J....
European Journal of Medical Genetics.  63 (2020)  7 - p. 103940 , 2020
Link: https://doi.org/10.1016/..
 
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10

Screening of a large Rubinstein–Taybi cohort identified man..:

Cross, Esther ; Duncan‐Flavell, Philippa J. ; Howarth, Rachel J....
American Journal of Medical Genetics Part A.  182 (2020)  11 - p. 2508-2520 , 2020
Link: https://doi.org/10.1002/..
 
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11

Genetic Sequencing of Pediatric Patients Identifies Mutatio..:

Ashton, James J. ; Mossotto, Enrico ; Stafford, Imogen S....
Clinical and Translational Gastroenterology.  11 (2020)  2 - p. e00129 , 2020
Link: https://doi.org/10.14309..
 
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12

Screening of a large cohort of blepharophimosis, ptosis, an..:

Bunyan, David J. ; Thomas, N. Simon
European Journal of Medical Genetics.  62 (2019)  7 - p. 103668 , 2019
Link: https://doi.org/10.1016/..
 
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13

New GJA8 variants and phenotypes highlight its critical rol..:

DDD Study ; Ceroni, Fabiola ; Aguilera-Garcia, Domingo...
Human Genetics.  138 (2018)  8-9 - p. 1027-1042 , 2018
Link: https://doi.org/10.1007/..
 
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14

Autosomal dominant tubulointerstitial kidney disease-UMOD i..:

Gast, Christine ; Marinaki, Anthony ; Arenas-Hernandez, Monica...
BMC Nephrology.  19 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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15

Identification of a functionally significant tri-allelic ge..:

Norman, Chelsea S. ; O'Gorman, Luke ; Gibson, Jane...
Scientific Reports.  7 (2017)  1 - p. , 2017
Link: https://doi.org/10.1038/..
 
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