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Barton, Stephanie
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1

Clinical, biochemical and molecular analysis in a cohort of..:

Palmer, Eleanor ; Stepien, Karolina M. ; Campbell, Christopher...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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2

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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3

Using an integrative machine learning approach utilising ho..:

Sallah, Shalaw R. ; Sergouniotis, Panagiotis I. ; Barton, Stephanie...
European Journal of Human Genetics.  28 (2020)  9 - p. 1274-1282 , 2020
Link: https://doi.org/10.1038/..
 
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4

Diagnostic yield of panel-based genetic testing in syndromi..:

UK Inherited Retinal Disease Consortium ; Jiman, Omamah A. ; Taylor, Rachel L....
European Journal of Human Genetics.  28 (2019)  5 - p. 576-586 , 2019
Link: https://doi.org/10.1038/..
 
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5

Genotype–phenotype specificity in Menke–Hennekam syndrome c..:

Banka, Siddharth ; Sayer, Rebecca ; Breen, Catherine...
American Journal of Medical Genetics Part A.  179 (2019)  6 - p. 1058-1062 , 2019
Link: https://doi.org/10.1002/..
 
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6

The genetic aetiology of retinal degeneration in children i..:

Avela, Kristiina ; Salonen‐Kajander, Riitta ; Laitinen, Arja...
Acta Ophthalmologica.  97 (2019)  8 - p. 805-814 , 2019
Link: https://doi.org/10.1111/..
 
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7

Adaptations of lumbar biomechanics after four weeks of runn..:

Lee, Szu-Ping ; Bailey, Joshua P. ; Smith, Jo Armour...
Physical Therapy in Sport.  29 (2018)  - p. 101-107 , 2018
Link: https://doi.org/10.1016/..
 
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8

Genotype–phenotype correlations in Cornelia de Lange syndro..:

Moss, Joanna ; Penhallow, Jessica ; Ansari, Morad...
American Journal of Medical Genetics Part A.  173 (2017)  6 - p. 1566-1574 , 2017
Link: https://doi.org/10.1002/..
 
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9

A founder mutation in CERKL is a major cause of retinal dys..:

Avela, Kristiina ; Sankila, Eeva‐Marja ; Seitsonen, Sanna...
Acta Ophthalmologica.  96 (2017)  2 - p. 183-191 , 2017
Link: https://doi.org/10.1111/..
 
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10

Next‐generation sequencing targeted disease panel in rod‐co..:

Vincent, Andrea L ; Abeysekera, Nandoun ; van Bysterveldt, Katherine A...
Clinical & Experimental Ophthalmology.  45 (2017)  9 - p. 901-910 , 2017
Link: https://doi.org/10.1111/..
 
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11

Validation of copy number variation analysis for next-gener..:

Ellingford, Jamie M ; Campbell, Christopher ; Barton, Stephanie...
European Journal of Human Genetics.  25 (2017)  6 - p. 719-724 , 2017
Link: https://doi.org/10.1038/..
 
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12

The role of small in-frame insertions/deletions in inherite..:

Sergouniotis, Panagiotis I. ; Barton, Stephanie J. ; Waller, Sarah...
Orphanet Journal of Rare Diseases.  11 (2016)  1 - p. , 2016
Link: https://doi.org/10.1186/..
 
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13

Whole Genome Sequencing Increases Molecular Diagnostic Yiel..:

Ellingford, Jamie M. ; Barton, Stephanie ; Bhaskar, Sanjeev...
Ophthalmology.  123 (2016)  5 - p. 1143-1150 , 2016
Link: https://doi.org/10.1016/..
 
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14

A clinical molecular genetic service for United Kingdom fam..:

Ramsden, Simon C. ; O'Grady, Anna ; Fletcher, Tracy...
European Journal of Medical Genetics.  56 (2013)  8 - p. 432-438 , 2013
Link: https://doi.org/10.1016/..
 
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15

Life-history Aspects of the Cherokee Darter, Etheostoma sco..:

Barton, Stephanie D. ; Powers, Steven L.
Southeastern Naturalist.  9 (2010)  4 - p. 687-698 , 2010
Link: https://www.jstor.org/st..
 
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