Items where authors include "Poulter, J.A."

Article

Aleem, T., Rashid, M., Ahmad, N. et al. (4 more authors) (2025) Exome sequencing reveals broad genetic heterogeneity for neuromuscular disorders in consanguineous Pakistani Families. European Journal of Human Genetics. ISSN 1018-4813

Hany, U., Watson, C.M. orcid.org/0000-0003-2371-1844, Liu, L. et al. (16 more authors) (2025) Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target Loci. Human Mutation, 2025. 8942542. ISSN 1059-7794

Hany, U. orcid.org/0000-0002-4486-1625, Watson, C.M. orcid.org/0000-0003-2371-1844, Liu, L. orcid.org/0009-0008-3593-8409 et al. (16 more authors) (2025) Genetic Screening of a nonsyndromic amelogenesis imperfecta patient cohort using a custom smMIP reagent for selective enrichment of target loci. Human Mutation, 2025 (1). 8942542. ISSN 1059-7794

Al-Hakim, A., Trikha, R., Htut, E.E.P. et al. (19 more authors) (2025) Treatment outcomes in patients with VEXAS syndrome: a retrospective cohort study. The Lancet Rheumatology, 7 (7). e472-e484. ISSN 2665-9913

Poleg, T., Hadar, N., Kristal, E. et al. (19 more authors) (2025) Early‐Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B. Movement Disorders. ISSN 0885-3185

Watson, C.M. orcid.org/0000-0003-2371-1844, Lascelles, C., Raynor, M. et al. (9 more authors) (2025) AgileMultiIdeogram: Rapid Identification and Visualization of Autozygous Regions Using Illumina Short-Read Sequencing Data. Biology, 14 (6). 666. ISSN 2079-7737

Martinez Rodriguez, A., Chang, L. orcid.org/0009-0003-5223-7616, Rowczenio, D. et al. (13 more authors) (2025) Mapping VEXAS-associated and rare UBA1 variants in the United Kingdom: Insights from patient cohorts and the general population. British Journal Of Haematology. ISSN 0007-1048

Topping, J., Chang, L., Nadat, F. et al. (17 more authors) (2024) Characterization of genetic landscape and novel inflammatory biomarkers in patients with adult-onset Still's disease. Arthritis & Rheumatology. ISSN 2326-5191

Hany, U. orcid.org/0000-0002-4486-1625, Watson, C.M. orcid.org/0000-0003-2371-1844, Liu, L. et al. (17 more authors) (2024) Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta. Journal of Medical Genetics, 61 (4). pp. 347-355. ISSN 0022-2593

Hany, U. orcid.org/0000-0002-4486-1625, Watson, C.M. orcid.org/0000-0003-2371-1844, Liu, L. et al. (17 more authors) (2024) Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta. Journal of Medical Genetics, 61 (4). pp. 347-355. ISSN 0022-2593

Smith, C.E.L. orcid.org/0000-0001-8320-5105, Laugel-Haushalter, V., Hany, U. orcid.org/0000-0002-4486-1625 et al. (15 more authors) (2024) Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability. Journal of Medical Genetics. ISSN 0022-2593

Tanner, G., Barrow, R., Ajaib, S. et al. (27 more authors) (2024) IDHwt glioblastomas can be stratified by their transcriptional response to standard treatment, with implications for targeted therapy. Genome Biology, 25. 45. ISSN 1474-760X

Harris, E.L., Roy, V., Montagne, M. et al. (15 more authors) (2024) A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes. American Journal of Human Genetics, 111 (1). pp. 119-132. ISSN 0002-9297

Hany, U. orcid.org/0000-0002-4486-1625, Watson, C.M. orcid.org/0000-0003-2371-1844, Liu, L. et al. (11 more authors) (2024) Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes. Journal of Dental Research, 103 (1). pp. 22-30. ISSN 0022-0345

Hany, U. orcid.org/0000-0002-4486-1625, Watson, C.M. orcid.org/0000-0003-2371-1844, Liu, L. et al. (11 more authors) (2024) Novel ameloblastin variants, contrasting amelogenesis imperfecta phenotypes. Journal of Dental Research, 103 (1). pp. 22-30. ISSN 0022-0345

Saleban, M., Harris, E.L. and Poulter, J.A. orcid.org/0000-0003-2048-5693 (2023) D-Type Cyclins in Development and Disease. Genes, 14 (7). 1445. ISSN 2073-4425

Mahmood, T., El-Asrag, M.E., Poulter, J.A. et al. (19 more authors) (2021) A recessively inherited risk locus on chromosome 13q22-31 conferring susceptibility to schizophrenia. Schizophrenia Bulletin, 47 (3). pp. 796-802. ISSN 0586-7614

Smith, C.E.L., Whitehouse, L.L.E., Poulter, J.A. et al. (8 more authors) (2020) A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta. Human Molecular Genetics, 29 (9). pp. 1417-1425. ISSN 0964-6906

Brookes, S.J., Barron, M.J., Smith, C.E.L. et al. (7 more authors) (2017) Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress. Human Molecular Genetics, 26 (10). pp. 1863-1876. ISSN 0964-6906