Laura Devlin
Miguel Barroso Gil
Ruxandra Neatu
Laura Powell
Dr Emanuela Molinari
et al. | Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome | 2022 |
|
Carina Oliva
Laura Powell
Dr Ian Wilson
Dr Sarah Rice
Dr Colin Miles
et al. | Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations | 2022 |
|
Dr Eric Olinger
Dr Elisa Molinari
Miguel Barroso Gil
Laura Powell
Dr Colin Miles
et al. | A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families | 2021 |
|
Laura Powell
Professor John Sayer
| ARL3, a small GTPase with a functionally conserved role in primary cilia and immune synapses | 2021 |
|
Intisar Al Alawi
Laura Powell
Dr Sarah Rice
Professor John Sayer
| Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure | 2021 |
|
Laura Powell
Dr Eric Olinger
Dr Sarah Rice
Miguel Barroso Gil
Ian Wilson
et al. | Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome | 2021 |
|
Intisar Al Alawi
Miguel Barroso Gil
Laura Powell
Dr Eric Olinger
Professor John Sayer
et al. | The diagnostic yield of whole exome sequencing as a first approach in consanguineous Omani renal ciliopathy syndrome patients | 2021 |
|
Laura Devlin
Dr Simon Ramsbottom
Lynne Overman
Dr Steven Lisgo
Dr Gavin Clowry
et al. | Embryonic and foetal expression patterns of the ciliopathy gene CEP164 | 2020 |
|
Laura Powell
Miguel Barroso Gil
Dr Gavin Clowry
Laura Devlin
Dr Elisa Molinari
et al. | Expression patterns of ciliopathy genes ARL3 and CEP120 reveal roles in multisystem development | 2020 |
|
Miguel Barroso Gil
Laura Powell
Professor John Sayer
| RE: Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders | 2020 |
|
