Stephanie Halford

All papers authored by Stephanie Halford

This paper is made freely available by the publisher.

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

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2022 Helena M. Feenstra, Saoud Al-Khuzaei, Mital Shah, Suzanne Broadgate, Morag Shanks, Archith Kamath

, Jing Yu

, Jasleen K. Jolly

, Robert E. MacLaren, Penny Clouston, Stephanie Halford

, Susan M. Downes

Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes

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2021 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

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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

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Saoud Al-Khuzaei, Suzanne Broadgate, Stephanie Halford

, Jasleen K. Jolly

, Morag Shanks, Penny Clouston, Susan M. Downes

Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients

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Olivia Cundy

, Suzanne Broadgate

, Stephanie Halford

, Robert E. MacLaren, Morag E. Shanks, Penny Clouston, Michael J. Gilhooley

, Susan M. Downes

“Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS”

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This paper was not found in any repository, but could be made available legally by the author.

2018 Christie K. Campla

, Hannah Mast, Lijin Dong

, Jingqi Lei, Stephanie Halford

, Sumathi Sekaran, Anand Swaroop

Targeted deletion of an NRL- and CRX-regulated alternative promoter specifically silences FERM and PDZ domain containing 1 (Frmpd1) in rod photoreceptors

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Suzanne Broadgate

, Christine Kiire, Stephanie Halford

, Victor Chong

Diabetic macular oedema: under-represented in the genetic analysis of diabetic retinopathy

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

2015 Stephanie Halford

E-MTAB-3976 - Transcription profiling by array of mouse retinas from rodless, coneless, or rodless/coneless mice compared with wild type controls

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All papers authored by Stephanie Halford