Items where authors include "Carss, KJ"

Article

Tuijnenburg, P, Lango Allen, H, Burns, SO et al. (28 more authors) (2018) Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans. Journal of Allergy and Clinical Immunology, 142 (4). pp. 1285-1296. ISSN 0091-6749

Fiorentino, A, Yu, J, Arno, G et al. (28 more authors) (2018) Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa. Molecular Vision, 24. pp. 603-612. ISSN 1090-0535

Ito, Y, Carss, KJ, Duarte, ST et al. (18 more authors) (2018) De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. American Journal of Human Genetics, 103 (1). pp. 144-153. ISSN 0002-9297

Khan, KN, Robson, A, Mahroo, OAR et al. (13 more authors) (2018) A clinical and molecular characterisation of CRB1-associated maculopathy. European Journal of Human Genetics, 26. pp. 687-694. ISSN 1018-4813

Khan, KN, Lord, EC orcid.org/0000-0001-9216-7382, Arno, G et al. (10 more authors) (2018) Detailed Retinal Imaging In Carriers Of Ocular Albinism. Retina, 38 (3). pp. 620-628. ISSN 1539-2864

Carss, KJ, Arno, G, Erwood, M et al. (35 more authors) (2017) Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. American Journal of Human Genetics, 100 (1). pp. 75-90. ISSN 0002-9297

Arno, G, Agrawal, SA, Eblimit, A et al. (27 more authors) (2016) Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. American Journal of Human Genetics, 99 (6). pp. 1305-1315. ISSN 0002-9297