Items where authors include "Poulter, JA"

Article

Reijnders, MRF, Seibt, A, Brugger, M et al. (25 more authors) (2023) De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood. Genetics in Medicine, 25 (7). 100838. ISSN 1098-3600

McClinton, B, Crinnion, LA, McKibbin, M et al. (7 more authors) (2023) Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon-based short-read sequencing strategies. Molecular Genetics and Genomic Medicine, 11 (6). e2164. ISSN 2324-9269

Inglehearn, CF orcid.org/0000-0002-5143-2562, Yahya, S orcid.org/0000-0002-3710-1011, Smith, CEL orcid.org/0000-0001-8320-5105 et al. (7 more authors) (2023) Reply. Ophthalmology, 130 (3). e9-e10. ISSN 0161-6420

Panneman, DM, Hitti-Malin, RJ, Holtes, LK et al. (45 more authors) (2023) Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis. Frontiers in Cell and Developmental Biology, 11. 1112270. ISSN 2296-634X

Yahya, S, Smith, CEL orcid.org/0000-0001-8320-5105, Poulter, JA orcid.org/0000-0003-2048-5693 et al. (17 more authors) (2023) Late-onset autosomal dominant macular degeneration caused by deletion of the CRX gene. Ophthalmology, 130 (1). pp. 68-76. ISSN 0161-6420

Al-Hakim, A, Poulter, JA orcid.org/0000-0003-2048-5693, Mahmoud, D et al. (9 more authors) (2022) Allogeneic hematopoietic stem cell transplantation for VEXAS syndrome - UK experience. British Journal of Haematology, 199 (5). pp. 777-781. ISSN 0007-1048

Ferrada, MA, Savic, S orcid.org/0000-0001-7910-0554, Ospina Cardona, D et al. (29 more authors) (2022) Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis. Blood, 140 (13). pp. 1496-1506. ISSN 0006-4971

Best, S, Lord, J, Roche, M et al. (13 more authors) (2022) Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project. Journal of Medical Genetics, 59 (8). pp. 737-747. ISSN 0022-2593

Elpidorou, M, Poulter, JA orcid.org/0000-0003-2048-5693, Szymanska, K et al. (8 more authors) (2022) Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease. European Journal of Human Genetics, 30 (7). pp. 860-864. ISSN 1018-4813

Caseley, EA orcid.org/0000-0001-7591-143X, Lara-Reyna, S, Poulter, JA orcid.org/0000-0003-2048-5693 et al. (6 more authors) (2022) An Atypical Autoinflammatory Disease Due to an LRR Domain NLRP3 Mutation Enhancing Binding to NEK7. Journal of Clinical Immunology, 42 (1). pp. 158-170. ISSN 0271-9142

Baxter, DE, Allinson, LM, Al Amri, WS et al. (5 more authors) (2021) MiR-195 and Its Target SEMA6D Regulate Chemoresponse in Breast Cancer. Cancers, 13 (23). 5979. ISSN 2072-6694

Poulter, JA orcid.org/0000-0003-2048-5693 and Savic, S orcid.org/0000-0001-7910-0554 (2021) Genetics of somatic auto-inflammatory disorders. Seminars in Hematology, 58 (4). pp. 212-217. ISSN 0037-1963

Nikolopoulos, G orcid.org/0000-0003-3166-8372, Smith, CEL orcid.org/0000-0001-8320-5105, Poulter, JA orcid.org/0000-0003-2048-5693 et al. (10 more authors) (2021) Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20. Human Mutation, 42 (5). pp. 567-576. ISSN 1059-7794

Poulter, JA orcid.org/0000-0003-2048-5693, Collins, JC, Cargo, C et al. (12 more authors) (2021) Novel somatic mutations in UBA1 as a cause of VEXAS syndrome. Blood. ISSN 0006-4971

Holbrook, JA, Jarosz-Griffiths, HH, Caseley, E et al. (5 more authors) (2021) Neurodegenerative Disease and the NLRP3 Inflammasome. Frontiers in Pharmacology, 12. 643254. ISSN 1663-9812

Lara-Reyna, S, Poulter, JA orcid.org/0000-0003-2048-5693, Vasconcelos, EJR orcid.org/0000-0001-5130-6622 et al. (5 more authors) (2021) Identification of Critical Transcriptomic Signaling Pathways in Patients with H Syndrome and Rosai-Dorfman Disease. Journal of Clinical Immunology, 41 (2). pp. 441-457. ISSN 0271-9142

Poulter, JA, Gravett, MSC orcid.org/0000-0001-8351-7176, Taylor, RL et al. (26 more authors) (2021) New variants and in silico analyses in GRK1 associated Oguchi disease. Human Mutation, 42 (2). humu.24140. pp. 164-176. ISSN 1059-7794

Vig, A, Poulter, JA orcid.org/0000-0003-2048-5693, Ottaviani, D et al. (28 more authors) (2020) DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration. Genetics in Medicine, 22 (12). pp. 2041-2051. ISSN 1098-3600

Mahmood, T, El-Asrag, ME, Poulter, JA orcid.org/0000-0003-2048-5693 et al. (19 more authors) (2020) A recessively inherited risk locus on chromosome 13q22-31 conferring susceptibility to schizophrenia. Schizophrenia Bulletin. ISSN 0586-7614

Stremenova Spegarova, J, Lawless, D orcid.org/0000-0001-8496-3725, Mohamad, SMB et al. (24 more authors) (2020) Germline TET2 loss of function causes childhood immunodeficiency and lymphoma. Blood, 136 (9). pp. 1055-1066. ISSN 0006-4971

Caseley, EA orcid.org/0000-0001-7591-143X, Poulter, JA orcid.org/0000-0003-2048-5693, Rodrigues, F et al. (1 more author) (2020) Inflammasome inhibition under physiological and pharmacological conditions. Genes & Immunity, 21 (4). pp. 211-223. ISSN 1466-4879

Elpidorou, M, Best, S, Poulter, JA orcid.org/0000-0003-2048-5693 et al. (4 more authors) (2020) Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality. Journal of Medical Genetics. ISSN 0022-2593

Taylor, RL, Poulter, JA orcid.org/0000-0003-2048-5693, Downes, SM et al. (10 more authors) (2019) Loss-of-function mutations in the CFH gene affecting alternatively encoded Factor H-like 1 protein cause dominant early-onset macular drusen. Ophthalmology, 126 (10). pp. 1410-1421. ISSN 0161-6420

Smith, CEL orcid.org/0000-0001-8320-5105, Poulter, JA orcid.org/0000-0003-2048-5693, Brookes, SJ orcid.org/0000-0002-9097-7311 et al. (8 more authors) (2019) Phenotype and variant spectrum in the LAMB3 form of amelogenesis imperfecta. Journal of Dental Research, 98 (6). pp. 698-704. ISSN 0022-0345

Whitehouse, LLE, Smith, CEL orcid.org/0000-0001-8320-5105, Poulter, JA orcid.org/0000-0003-2048-5693 et al. (10 more authors) (2019) Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho‐dento‐osseous syndrome. Oral Diseases, 25 (1). pp. 182-191. ISSN 1354-523X

Bonnefoy, S, Watson, CM, Kernohan, KD et al. (22 more authors) (2018) Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects. American Journal of Human Genetics, 103 (5). pp. 727-739. 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

Smith, CEL orcid.org/0000-0001-8320-5105, Whitehouse, LLE, Poulter, JA orcid.org/0000-0003-2048-5693 et al. (6 more authors) (2017) Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta. European Journal of Human Genetics, 25 (8). pp. 1015-1019. ISSN 1018-4813

Smith, CEL orcid.org/0000-0001-8320-5105, Poulter, JA orcid.org/0000-0003-2048-5693, Antanaviciute, A et al. (4 more authors) (2017) Amelogenesis Imperfecta; Genes, Proteins And Pathways. Frontiers in Physiology, 8. 435. ISSN 1664-042X

Panagiotou, ES, Sanjurjo Soriano, C, Poulter, JA orcid.org/0000-0003-2048-5693 et al. (15 more authors) (2017) Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. The American Journal of Human Genetics, 100 (6). pp. 960-968. ISSN 0002-9297

Khan, KN, El-Asrag, ME, Ku, CA et al. (18 more authors) (2017) Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy. Investigative Ophthalmology and Visual Science, 58 (7). pp. 2906-2914. ISSN 0146-0404

Smith, CEL orcid.org/0000-0001-8320-5105, Kirkham, J, Day, PF orcid.org/0000-0001-9711-9638 et al. (6 more authors) (2017) A Fourth KLK4 Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities. Frontiers in Physiology, 8. 333. ISSN 1664-042X

Brookes, SJ orcid.org/0000-0002-9097-7311, Barron, MJ, Smith, CEL orcid.org/0000-0001-8320-5105 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

Taylor, RL, Arno, G, Poulter, JA orcid.org/0000-0003-2048-5693 et al. (17 more authors) (2017) Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy. JAMA Ophthalmology, 135 (4). pp. 339-347. ISSN 2168-6165

Smith, CEL orcid.org/0000-0001-8320-5105, Poulter, JA orcid.org/0000-0003-2048-5693, Levin, AV et al. (9 more authors) (2016) Spectrum of PEX1 and PEX6 variants in Heimler syndrome. European Journal of Human Genetics, 24 (11). pp. 1565-1571. ISSN 1018-4813

Parry, DA, Smith, CEL orcid.org/0000-0001-8320-5105, El-Sayed, W et al. (17 more authors) (2016) Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta. American Journal of Human Genetics, 99 (4). pp. 984-990. ISSN 0002-9297

Smith, CEL orcid.org/0000-0001-8320-5105, Murillo, G, Brookes, SJ orcid.org/0000-0002-9097-7311 et al. (5 more authors) (2016) Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta. Human Molecular Genetics, 25 (16). pp. 3578-3587. ISSN 0964-6906

Poulter, JA, Smith, CEL, Murrillo, G et al. (9 more authors) (2015) A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing. Molecular Genetics & Genomic Medicine, 3 (6). pp. 543-549.

Ratbi, I, Falkenberg, KD, Sommen, M et al. (28 more authors) (2015) Heimler Syndrome is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. American Journal of Human Genetics, 97 (4). pp. 535-545. ISSN 0002-9297

El-Asrag, ME, Sergouniotis, PI, McKibbin, M et al. (16 more authors) (2015) Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement. American Journal of Human Genetics, 96 (6). 948 - 954. ISSN 0002-9297

Ravesh, Z, El Asrag, ME, Weisschuh, N et al. (18 more authors) (2015) Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin. Molecular Vision, 21. 236 - 243. ISSN 1090-0535

Acevedo, AC, Poulter, JA, Alves, PG et al. (10 more authors) (2015) Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations. BMC Medical Genetics, 16. 8. 1 - 11. ISSN 1471-2350

Poulter, JA orcid.org/0000-0003-2048-5693, Murillo, G, Brookes, SJ orcid.org/0000-0002-9097-7311 et al. (6 more authors) (2014) Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta. Human Molecular Genetics, 23 (20). pp. 5317-5324. ISSN 0964-6906

Poulter, JA, Brookes, SJ, Shore, RC et al. (5 more authors) (2014) A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta. Human Molecular Genetics, 23 (8). 2189 - 2197. ISSN 0964-6906

Poulter, JA, El-Sayed, W, Shore, RC et al. (3 more authors) (2013) Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta. European Journal of Human Genetics, 22. 132 - 135. ISSN 1018-4813

Poulter, JA, Al-Araimi, M, Conte, I et al. (26 more authors) (2013) Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism. American Journal of Human Genetics, 93 (6). 1143 - 1150. ISSN 0002-9297

Al-Araimi, M, Pal, B, Poulter, JA et al. (10 more authors) (2013) A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1. Molecular Vision, 19. 2165 - 2172. ISSN 1090-0535

Khan, K, Logan, CV, McKibbin, M et al. (18 more authors) (2012) Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects. Human Molecular Genetics, 21 (4). pp. 776-783. ISSN 0964-6906

Parry, DA, Brookes, SJ, Logan, CV et al. (19 more authors) (2012) Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta. American Journal of Human Genetics, 91 (3). 565 - 571. ISSN 0002-9297

Proceedings Paper

van Genderen, MM, Khan, KN, Robson, A et al. (3 more authors) (2018) Clinical and molecular characteristics of CRB1‐associated maculopathy. In: Acta Ophthalmologica. Netherlands Ophthalmological Society (NOG) Annual Congress, 21-23 Mar 2018, Groningen, The Netherlands. Wiley , p. 28.

Preprint

Panneman, DM, Hitti-Malin, RJ, Holtes, LK et al. (45 more authors) (2022) Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis. [Preprint]