Items where authors include "Rankin, J."

Article

Lord, J. orcid.org/0000-0002-0539-9343, Oquendo, C.J., Wai, H.A. et al. (11 more authors) (2024) Non-coding variants are a rare cause of recessive developmental disorders in trans with coding variants. Genetics in Medicine, 26 (12). 101249. ISSN 1098-3600

Pagnamenta, A.T. orcid.org/0000-0001-7334-0602, Yu, J., Walker, S. et al. (65 more authors) (2024) The impact of inversions across 33,924 families with rare disease from a national genome sequencing project. The American Journal of Human Genetics, 111 (6). pp. 1140-1164. ISSN 0002-9297

Adesanya, A.M. orcid.org/0000-0002-8252-1162, Best, K.E. orcid.org/0000-0002-4663-7141, Coats, L. orcid.org/0000-0003-3422-5497 et al. (1 more author) (2023) Predictors of Post-Operative Hospital Length of Stay Following Complete Repair of Tetralogy of Fallot in a Pediatric Cohort in the North of England. Pediatric Cardiology, 45. pp. 92-99. ISSN 0172-0643

Woods, E., Marson, I., Coci, E. et al. (14 more authors) (2022) Expanding the phenotype of TAB2 variants and literature review. American Journal of Medical Genetics Part A, 188 (11). pp. 3331-3342. ISSN 1552-4825

Aggarwal, D. orcid.org/0000-0002-5938-8172, Warne, B. orcid.org/0000-0003-1326-0373, Jahun, A.S. orcid.org/0000-0002-4585-1701 et al. (725 more authors) (2022) Genomic epidemiology of SARS-CoV-2 in a UK university identifies dynamics of transmission. Nature Communications, 13 (1). 751. ISSN 2041-1723

Rankin, J., Rowen, D. orcid.org/0000-0003-3018-5109, Howe, A. et al. (2 more authors) (2019) Valuing health-related quality of life in heart failure: a systematic review of methods to derive quality-adjusted life years (QALYs) in trial-based cost-utility analyses. Heart Failure Reviews, 24 (4). pp. 549-563. ISSN 1382-4147

Radley, J.A. orcid.org/0000-0002-0776-0091, O'Sullivan, R.B.G., Turton, S.E. et al. (14 more authors) (2019) Deep phenotyping of fourteen new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype. Clinical Genetics, 95 (4). pp. 496-506. ISSN 0009-9163

Kanani, F. orcid.org/0000-0003-4388-0290, Parker, M.J., Burren, C.P. et al. (2 more authors) (2019) Clinical report follow up: Type 1 Collagenopathy presenting with a Russell-Silver phenotype. American Journal of Medical Genetics Part A , 179 (1). pp. 139-140. ISSN 1552-4825

Faundes, V., Newman, W.G., Bernardini, L. et al. (20 more authors) (2018) Histone lysine methylases and demethylases in the landscape of human developmental disorders. American Journal of Human Genetics, 102 (1). pp. 175-187. ISSN 0002-9297

Muir, D., Vat, L.E., Keller, M. et al. (238 more authors) (2017) Abstracts from the NIHR INVOLVE Conference 2017. Research Involvement and Engagement, 3 (Suppl 1). 27. ISSN 2056-7529

McRae, J.F., Clayton, S., Fitzgerald, T.W. et al. (299 more authors) (2017) Prevalence and architecture of de novo mutations in developmental disorders. Nature, 542 (7642). pp. 433-438. ISSN 0028-0836

Fitzgerald, T.W., Gerety, S.S., Jones, W.D. et al. (263 more authors) (2015) Large-scale discovery of novel genetic causes of developmental disorders. Nature, 519. pp. 223-228. ISSN 0028-0836