Items where authors include "Jain, M."

Article

Niggl, E. orcid.org/0000-0002-5654-8425, Bouman, A., Briere, L.C. et al. (345 more authors) (2023) HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder. The American Journal of Human Genetics, 110 (8). pp. 1414-1435. ISSN 0002-9297

Flume, P.A., Biner, R.F., Downey, D.G. et al. (190 more authors) (2021) Long-term safety and efficacy of tezacaftor–ivacaftor in individuals with cystic fibrosis aged 12 years or older who are homozygous or heterozygous for Phe508del CFTR (EXTEND): an open-label extension study. The Lancet Respiratory Medicine, 9 (7). pp. 733-746. ISSN 2213-2600

Burrage, L.C., Reynolds, J.J., Baratang, N.V. et al. (57 more authors) (2019) Bi-allelic variants in TONSL cause SPONASTRIME dysplasia and a spectrum of skeletal dysplasia phenotypes. American Journal of Human Genetics, 104 (3). pp. 422-438. ISSN 0002-9297

Krishnapriya, K.C., Roy, P., Puttaraju, B. et al. (5 more authors) (2019) Spin density encodes intramolecular singlet exciton fission in pentacene dimers. Nature Communications, 10 (1). 33. ISSN 2041-1723

Guralnik, B., Jain, M., Herman, F. et al. (9 more authors) (2015) OSL-thermochronometry of feldspar from the KTB borehole, Germany. Earth and Planetary Science Letters, 423. pp. 232-243. ISSN 0012-821X

Proceedings Paper

Hawes, C., Camp, C., Burke, T. et al. (5 more authors) (2020) P076 Comparing the sensitivity of patient-level discrete event simulation and cohort health-state transition modelling frameworks in the advent of novel therapies for people with severe haemophilia A. In: Haemophilia. 13th Annual Congress of European Association for Haemophilia and Allied Disorders 2020, 05-07 Feb 2020, The Hague, The Netherlands. Wiley , pp. 65-66.

O'Hara, J., Burke, T., Chowdary, P. et al. (9 more authors) (2019) Key findings from an expert validation workshop to establish an appropriate modelling framework in severe haemophilia A. In: Haemophilia. 12th Annual Congress of the European Association for Haemophilia and Allied Disorders 2019, 06-08 Feb 2019, Prague, Czech Republic. Wiley , pp. 182-183.

O'Hara, J., Jain, M., Stevenson, M. orcid.org/0000-0002-3099-9877 et al. (2 more authors) (2019) Using patient-level simulation to model patient-centric outcomes in the advent of gene therapy in severe haemophilia A. In: Haemophilia. 12th Annual Congress of the European Association for Haemophilia and Allied Disorders 2019, 06-08 Feb 2019, Prague, Czech Republic. Wiley , pp. 66-67.