Stephanie Halford

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 11

Top Topics

Diabetic Retinopathy

Top Venues

Ophthalmic genetics

Eye (London, England)

Acta ophthalmologica

This page only lists publications with an associated author ORCID identifier.

Publications

Jennifer Kirkby, Stephanie Halford, Morag Shanks, Anthony Moore, Anthony Gait, Lucy Jenkins, Penny Clouston, Chetan K Patel, Susan M Downes
A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1 , and Skewed X-Inactivation. Genes 14 (6) (2023)
Jennifer Kirkby, Stephanie Halford, Morag Shanks, Anthony Moore, Anthony Gait, Lucy Jenkins, Penny Clouston, Chetan K Patel, Susan M Downes
A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1 , and Skewed X-Inactivation. Genes 14 (6) (2023)
Jennifer Kirkby, Stephanie Halford, Morag Shanks, Anthony Moore, Anthony Gait, Lucy Jenkins, Penny Clouston, Chetan K Patel, Susan M Downes
A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1 , and Skewed X-Inactivation. Genes 14 (6) (2023)
Jennifer Kirkby, Stephanie Halford, Morag Shanks, Anthony Moore, Anthony Gait, Lucy Jenkins, Penny Clouston, Chetan K Patel, Susan M Downes
A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1 , and Skewed X-Inactivation. Genes 14 (6) (2023)
Helena M Feenstra, Saoud Al-Khuzaei, Mital Shah, Suzanne Broadgate, Morag Shanks, Archith Kamath, Jing Yu, Jasleen Kaur Jolly, Robert E MacLaren, Penny Clouston, Stephanie Halford, Susan M Downes
Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes. Genes 13 (8) (2022)
Saoud Al-Khuzaei, Suzanne Broadgate, Charlotte R Foster, Mital Shah, Jing Yu, Susan M Downes, Stephanie Halford
An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story. Genes 12 (8) (2021)
Chetan Khantibai Patel, Suzanne Broadgate, Ahmed Shalaby, Jing Yu, Andrea H Nemeth, Susan M Downes, Stephanie Halford
Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis. Ophthalmic genetics (2021)
Olivia Cundy, Suzanne Broadgate, Stephanie Halford, Robert E MacLaren, Morag E Shanks, Penny Clouston, Michael James Gilhooley, Susan M Downes
"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS". Eye (London, England) 35 (5) (2020)
Saoud Al-Khuzaei, Suzanne Broadgate, Stephanie Halford, Jasleen Kaur Jolly, Morag Shanks, Penny Clouston, Susan M Downes
Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients. Genes 11 (11) (2020)
Susan M Downes, Tham Nguyen, Vicky Tai, Suzanne Broadgate, Mital Shah, Saoud Al-Khuzaei, Robert E MacLaren, Morag Shanks, Penny Clouston, Stephanie Halford
Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL. Genes 11 (12) (2020)
Suzanne Broadgate, Christine Kiire, Stephanie Halford, Victor Chong
Diabetic macular oedema: under-represented in the genetic analysis of diabetic retinopathy. Acta ophthalmologica (2018)