N Simon Thomas

Publication Activity (10 Years)

Years Active: 2021-2022
Publications (10 Years): 3

Top Topics

Top Venues

NPJ genomic medicine

Clinical genetics

Journal of the Endocrine Society

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

Publications

Siying Lin, Aida Sanchez-Bretaño, Joseph S Leslie, Katie B Williams, Helena Lee, N Simon Thomas, Jonathan Callaway, James Deline, J Arjuna Ratnayaka, Diana Baralle, Melanie A Schmitt, Chelsea S Norman, Sheri Hammond, Gaurav V Harlalka, Sarah Ennis, Harold E Cross, Olivia Wenger, Andrew H Crosby, Andrew H Crosby, James E Self
Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B). NPJ genomic medicine 7 (1) (2022)
Laura A Devlin, Janice Coles, Claire L Jackson, Miguel Barroso-Gil, Ben Green, Woolf T Walker, N Simon Thomas, James Thompson, Simon A Rock, Ruxandra Neatu, Laura Powell, Elisa Molinari, null null, Ian J Wilson, Heather J Cordell, Eric Olinger, Colin G Miles, John Andrew Sayer, Gabrielle Wheway, Jane S A Lucas
Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome. Clinical genetics (2022)
Federica Buonocore, Avinaash V Maharaj, Younus Qamar, Katrin Koehler, Jenifer P Suntharalingham, Li F Chan, Bruno Ferraz-de-Souza, Claire R Hughes, Lin Lin, Rathi Prasad, Jeremy Allgrove, Edward Thomas Andrews, Charles R Buchanan, Timothy D Cheetham, Elizabeth C Crowne, Justin Huw Davies, John W Gregory, Peter C Hindmarsh, Tony Hulse, Nils P Krone, Prateek Shanmugananda, Mohamad Guftar Shaikh, Catherine Roberts, Peter Ellis Clayton, Mehul Tulsidas Dattani, N Simon Thomas, Angela Huebner, Adrian J L Clark, Louise A Metherell, John C Achermann
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK. Journal of the Endocrine Society 5 (8) (2021)