Publications by Laura Powell - ePrints

Browsing publications by Laura Powell.

Newcastle Authors	Title	Year
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