Items where Funder is Jules Thorn Charitable Trust.
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Diggle, CP, Sukoff Rizzo, SJ, Popiolek, M et al. (39 more authors) (2016) Biallelic mutations in PDE10A lead to loss of striatal PDE10A and a hyperkinetic movement disorder with onset in infancy. American Journal of Human Genetics, 98 (4). pp. 735-743. ISSN 0002-9297
078606/Z/05/Z
Ouboussad, L, Wong, C, Hunt, L et al. (3 more authors) (2016) A2.40 Investigating IL-6 pathway signalling kinetics in peripheral blood single cell subsets with tocilizumab therapy in patients with early rheumatoid arthritis. In: Annals of the Rheumatic Diseases. 36th European Workshop for Rheumatology Research, 25-27 Feb 2016, York, UK. BMJ Publishing Group , A31-A31.
17855
Ouboussad, L, Wong, C, Hunt, L et al. (3 more authors) (2016) A2.40 Investigating IL-6 pathway signalling kinetics in peripheral blood single cell subsets with tocilizumab therapy in patients with early rheumatoid arthritis. In: Annals of the Rheumatic Diseases. 36th European Workshop for Rheumatology Research, 25-27 Feb 2016, York, UK. BMJ Publishing Group , A31-A31.
18387
Ouboussad, L, Wong, C, Hunt, L et al. (3 more authors) (2016) A2.40 Investigating IL-6 pathway signalling kinetics in peripheral blood single cell subsets with tocilizumab therapy in patients with early rheumatoid arthritis. In: Annals of the Rheumatic Diseases. 36th European Workshop for Rheumatology Research, 25-27 Feb 2016, York, UK. BMJ Publishing Group , A31-A31.
200923
Ouboussad, L, Wong, C, Hunt, L et al. (3 more authors) (2016) A2.40 Investigating IL-6 pathway signalling kinetics in peripheral blood single cell subsets with tocilizumab therapy in patients with early rheumatoid arthritis. In: Annals of the Rheumatic Diseases. 36th European Workshop for Rheumatology Research, 25-27 Feb 2016, York, UK. BMJ Publishing Group , A31-A31.
Ouboussad, L, Wong, C, Hunt, L et al. (3 more authors) (2016) A2.40 Investigating IL-6 pathway signalling kinetics in peripheral blood single cell subsets with tocilizumab therapy in patients with early rheumatoid arthritis. In: Annals of the Rheumatic Diseases. 36th European Workshop for Rheumatology Research, 25-27 Feb 2016, York, UK. BMJ Publishing Group , A31-A31.
223404
Ouboussad, L, Wong, C, Hunt, L et al. (3 more authors) (2016) A2.40 Investigating IL-6 pathway signalling kinetics in peripheral blood single cell subsets with tocilizumab therapy in patients with early rheumatoid arthritis. In: Annals of the Rheumatic Diseases. 36th European Workshop for Rheumatology Research, 25-27 Feb 2016, York, UK. BMJ Publishing Group , A31-A31.
276
Ouboussad, L, Wong, C, Hunt, L et al. (3 more authors) (2016) A2.40 Investigating IL-6 pathway signalling kinetics in peripheral blood single cell subsets with tocilizumab therapy in patients with early rheumatoid arthritis. In: Annals of the Rheumatic Diseases. 36th European Workshop for Rheumatology Research, 25-27 Feb 2016, York, UK. BMJ Publishing Group , A31-A31.
317472
Panagiotou, ES, Fernandez-Fuentes, N, Farraj, LA et al. (10 more authors) (2022) Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia. Molecular Vision, 28. pp. 57-69. ISSN 1090-0535
Panagiotou, ES, Fernandez-Fuentes, N, Farraj, LA et al. (10 more authors) (2022) Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia. Molecular Vision, 28. pp. 57-69. ISSN 1090-0535
Panagiotou, ES, Fernandez-Fuentes, N, Farraj, LA et al. (10 more authors) (2022) Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia. Molecular Vision, 28. pp. 57-69. ISSN 1090-0535
Panagiotou, ES, Fernandez-Fuentes, N, Farraj, LA et al. (10 more authors) (2022) Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia. Molecular Vision, 28. pp. 57-69. ISSN 1090-0535
3T01 - 9203
Ouboussad, L, Wong, C, Hunt, L et al. (3 more authors) (2016) A2.40 Investigating IL-6 pathway signalling kinetics in peripheral blood single cell subsets with tocilizumab therapy in patients with early rheumatoid arthritis. In: Annals of the Rheumatic Diseases. 36th European Workshop for Rheumatology Research, 25-27 Feb 2016, York, UK. BMJ Publishing Group , A31-A31.
9/R21/003
Ouboussad, L, Wong, C, Hunt, L et al. (3 more authors) (2016) A2.40 Investigating IL-6 pathway signalling kinetics in peripheral blood single cell subsets with tocilizumab therapy in patients with early rheumatoid arthritis. In: Annals of the Rheumatic Diseases. 36th European Workshop for Rheumatology Research, 25-27 Feb 2016, York, UK. BMJ Publishing Group , A31-A31.
9R01/6002
Ouboussad, L, Wong, C, Hunt, L et al. (3 more authors) (2016) A2.40 Investigating IL-6 pathway signalling kinetics in peripheral blood single cell subsets with tocilizumab therapy in patients with early rheumatoid arthritis. In: Annals of the Rheumatic Diseases. 36th European Workshop for Rheumatology Research, 25-27 Feb 2016, York, UK. BMJ Publishing Group , A31-A31.
9R11/6002
Ouboussad, L, Wong, C, Hunt, L et al. (3 more authors) (2016) A2.40 Investigating IL-6 pathway signalling kinetics in peripheral blood single cell subsets with tocilizumab therapy in patients with early rheumatoid arthritis. In: Annals of the Rheumatic Diseases. 36th European Workshop for Rheumatology Research, 25-27 Feb 2016, York, UK. BMJ Publishing Group , A31-A31.
9R11/8006
Ouboussad, L, Wong, C, Hunt, L et al. (3 more authors) (2016) A2.40 Investigating IL-6 pathway signalling kinetics in peripheral blood single cell subsets with tocilizumab therapy in patients with early rheumatoid arthritis. In: Annals of the Rheumatic Diseases. 36th European Workshop for Rheumatology Research, 25-27 Feb 2016, York, UK. BMJ Publishing Group , A31-A31.
BB/M009114/1
Cuvertino, S, Hartill, V, Colyer, A et al. (32 more authors) (2020) A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. Genetics in Medicine, 22 (5). pp. 867-877. ISSN 1098-3600
FS/13/32/30069
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
Cuvertino, S, Hartill, V, Colyer, A et al. (32 more authors) (2020) A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. Genetics in Medicine, 22 (5). pp. 867-877. ISSN 1098-3600
Hartill, VL, Van de Hoek, G, Patel, MP et al. (25 more authors) (2018) DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport. Human Molecular Genetics, 27 (3). pp. 529-545. ISSN 0964-6906
G1001518
Ouboussad, L, Wong, C, Hunt, L et al. (3 more authors) (2016) A2.40 Investigating IL-6 pathway signalling kinetics in peripheral blood single cell subsets with tocilizumab therapy in patients with early rheumatoid arthritis. In: Annals of the Rheumatic Diseases. 36th European Workshop for Rheumatology Research, 25-27 Feb 2016, York, UK. BMJ Publishing Group , A31-A31.
Ouboussad, L, Wong, C, Hunt, L et al. (3 more authors) (2016) A2.40 Investigating IL-6 pathway signalling kinetics in peripheral blood single cell subsets with tocilizumab therapy in patients with early rheumatoid arthritis. In: Annals of the Rheumatic Diseases. 36th European Workshop for Rheumatology Research, 25-27 Feb 2016, York, UK. BMJ Publishing Group , A31-A31.
HEALTH-F5-2010-241955
Hartill, VL, Van de Hoek, G, Patel, MP et al. (25 more authors) (2018) DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport. Human Molecular Genetics, 27 (3). pp. 529-545. ISSN 0964-6906
LMBRU
Ouboussad, L, Wong, C, Hunt, L et al. (3 more authors) (2016) A2.40 Investigating IL-6 pathway signalling kinetics in peripheral blood single cell subsets with tocilizumab therapy in patients with early rheumatoid arthritis. In: Annals of the Rheumatic Diseases. 36th European Workshop for Rheumatology Research, 25-27 Feb 2016, York, UK. BMJ Publishing Group , A31-A31.
M SPRAKES
Ouboussad, L, Wong, C, Hunt, L et al. (3 more authors) (2016) A2.40 Investigating IL-6 pathway signalling kinetics in peripheral blood single cell subsets with tocilizumab therapy in patients with early rheumatoid arthritis. In: Annals of the Rheumatic Diseases. 36th European Workshop for Rheumatology Research, 25-27 Feb 2016, York, UK. BMJ Publishing Group , A31-A31.
MP/19269
Ouboussad, L, Wong, C, Hunt, L et al. (3 more authors) (2016) A2.40 Investigating IL-6 pathway signalling kinetics in peripheral blood single cell subsets with tocilizumab therapy in patients with early rheumatoid arthritis. In: Annals of the Rheumatic Diseases. 36th European Workshop for Rheumatology Research, 25-27 Feb 2016, York, UK. BMJ Publishing Group , A31-A31.
MR/J004391/1
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
MR/K011154/1
Hartill, VL, Van de Hoek, G, Patel, MP et al. (25 more authors) (2018) DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport. Human Molecular Genetics, 27 (3). pp. 529-545. ISSN 0964-6906
Chai, G, Webb, A, Li, C et al. (34 more authors) (2021) Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Neuron, 109 (2). pp. 241-256. ISSN 0896-6273
Schrander, DE, Staal, HM, Johnson, CA orcid.org/0000-0002-2979-8234 et al. (4 more authors) (2022) Orthopaedic Aspects of SAMS Syndrome. Journal of Pediatric Genetics, 11 (1). pp. 51-58. ISSN 2146-4596
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
MR/m000532/1
Hartill, VL, Van de Hoek, G, Patel, MP et al. (25 more authors) (2018) DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport. Human Molecular Genetics, 27 (3). pp. 529-545. ISSN 0964-6906
NO EXT REF GIVEN
Ouboussad, L, Wong, C, Hunt, L et al. (3 more authors) (2016) A2.40 Investigating IL-6 pathway signalling kinetics in peripheral blood single cell subsets with tocilizumab therapy in patients with early rheumatoid arthritis. In: Annals of the Rheumatic Diseases. 36th European Workshop for Rheumatology Research, 25-27 Feb 2016, York, UK. BMJ Publishing Group , A31-A31.
NONE GIVEN
Ouboussad, L, Wong, C, Hunt, L et al. (3 more authors) (2016) A2.40 Investigating IL-6 pathway signalling kinetics in peripheral blood single cell subsets with tocilizumab therapy in patients with early rheumatoid arthritis. In: Annals of the Rheumatic Diseases. 36th European Workshop for Rheumatology Research, 25-27 Feb 2016, York, UK. BMJ Publishing Group , A31-A31.
Ouboussad, L, Wong, C, Hunt, L et al. (3 more authors) (2016) A2.40 Investigating IL-6 pathway signalling kinetics in peripheral blood single cell subsets with tocilizumab therapy in patients with early rheumatoid arthritis. In: Annals of the Rheumatic Diseases. 36th European Workshop for Rheumatology Research, 25-27 Feb 2016, York, UK. BMJ Publishing Group , A31-A31.
Ouboussad, L, Wong, C, Hunt, L et al. (3 more authors) (2016) A2.40 Investigating IL-6 pathway signalling kinetics in peripheral blood single cell subsets with tocilizumab therapy in patients with early rheumatoid arthritis. In: Annals of the Rheumatic Diseases. 36th European Workshop for Rheumatology Research, 25-27 Feb 2016, York, UK. BMJ Publishing Group , A31-A31.
NOT GIVEN
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
Cuvertino, S, Hartill, V, Colyer, A et al. (32 more authors) (2020) A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. Genetics in Medicine, 22 (5). pp. 867-877. ISSN 1098-3600
Blok, LS, Rousseau, J, Twist, J et al. (77 more authors) (2019) Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nature Communications, 10. 2079. ISSN 2041-1723
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
Panagiotou, ES, Fernandez-Fuentes, N, Farraj, LA et al. (10 more authors) (2022) Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia. Molecular Vision, 28. pp. 57-69. ISSN 1090-0535
Hartill, VL, Van de Hoek, G, Patel, MP et al. (25 more authors) (2018) DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport. Human Molecular Genetics, 27 (3). pp. 529-545. ISSN 0964-6906
Bonthron, DT (2015) HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. Journal of Medical Genetics, 52 (12). pp. 797-803. ISSN 0022-2593
Makrythanasis, P, Kato, M, Zaki, MS et al. (18 more authors) (2016) Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. American Journal of Human Genetics, 98 (4). pp. 615-626. ISSN 0002-9297
Chai, G, Webb, A, Li, C et al. (34 more authors) (2021) Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Neuron, 109 (2). pp. 241-256. ISSN 0896-6273
Schrander, DE, Staal, HM, Johnson, CA orcid.org/0000-0002-2979-8234 et al. (4 more authors) (2022) Orthopaedic Aspects of SAMS Syndrome. Journal of Pediatric Genetics, 11 (1). pp. 51-58. ISSN 2146-4596
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
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
Ouboussad, L, Wong, C, Hunt, L et al. (3 more authors) (2016) A2.40 Investigating IL-6 pathway signalling kinetics in peripheral blood single cell subsets with tocilizumab therapy in patients with early rheumatoid arthritis. In: Annals of the Rheumatic Diseases. 36th European Workshop for Rheumatology Research, 25-27 Feb 2016, York, UK. BMJ Publishing Group , A31-A31.
Diggle, CP, Sukoff Rizzo, SJ, Popiolek, M et al. (39 more authors) (2016) Biallelic mutations in PDE10A lead to loss of striatal PDE10A and a hyperkinetic movement disorder with onset in infancy. American Journal of Human Genetics, 98 (4). pp. 735-743. ISSN 0002-9297
NPRP7-1174-3 302
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
Not Known
Cuvertino, S, Hartill, V, Colyer, A et al. (32 more authors) (2020) A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. Genetics in Medicine, 22 (5). pp. 867-877. ISSN 1098-3600
R&D PP 1107
Ouboussad, L, Wong, C, Hunt, L et al. (3 more authors) (2016) A2.40 Investigating IL-6 pathway signalling kinetics in peripheral blood single cell subsets with tocilizumab therapy in patients with early rheumatoid arthritis. In: Annals of the Rheumatic Diseases. 36th European Workshop for Rheumatology Research, 25-27 Feb 2016, York, UK. BMJ Publishing Group , A31-A31.
RSC91
Ouboussad, L, Wong, C, Hunt, L et al. (3 more authors) (2016) A2.40 Investigating IL-6 pathway signalling kinetics in peripheral blood single cell subsets with tocilizumab therapy in patients with early rheumatoid arthritis. In: Annals of the Rheumatic Diseases. 36th European Workshop for Rheumatology Research, 25-27 Feb 2016, York, UK. BMJ Publishing Group , A31-A31.
SRC009
Ouboussad, L, Wong, C, Hunt, L et al. (3 more authors) (2016) A2.40 Investigating IL-6 pathway signalling kinetics in peripheral blood single cell subsets with tocilizumab therapy in patients with early rheumatoid arthritis. In: Annals of the Rheumatic Diseases. 36th European Workshop for Rheumatology Research, 25-27 Feb 2016, York, UK. BMJ Publishing Group , A31-A31.
V1217
Bonthron, DT (2015) HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. Journal of Medical Genetics, 52 (12). pp. 797-803. ISSN 0022-2593
Makrythanasis, P, Kato, M, Zaki, MS et al. (18 more authors) (2016) Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. American Journal of Human Genetics, 98 (4). pp. 615-626. ISSN 0002-9297