Research output per year
Research output per year
- 11 results
Search results
-
2024
Exploring the benefits, harms and costs of genomic newborn screening for rare diseases
Baple, E. L., Scott, R. H., Banka, S., Buchanan, J., Fish, L., Wynn, S., Wilkinson, D., Ellard, S., MacArthur, D. G. & Stark, Z., 1 Jul 2024, In: Nature Medicine. 30, 7, p. 1823-1825 3 p.Research output: Contribution to journal › Commentary/debate › peer-review
Open Access -
2023
Author Correction: PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing (Nature Metabolism, (2023), 5, 3, (495-515), 10.1038/s42255-023-00766-2)
Cikes, D., Elsayad, K., Sezgin, E., Koitai, E., Torma, F., Orthofer, M., Yarwood, R., Heinz, L. X., Sedlyarov, V., Miranda, N. D., Grapentine, S., Al-Murshedi, F., Abot, A., Weidinger, A., Kutchukian, C., Sanchez, C., Cronin, S. J. F., Novatchkova, M., Kavirayani, A. & Schuetz, T. & 17 others, , Apr 2023, In: Nature Metabolism. 5, 4, p. 711 1 p.Research output: Contribution to journal › Commentary/debate › peer-review
Open Access -
Erratum: Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy (The American Journal of Human Genetics (2023) 110(1) (120–145), (S000292972200502X), (10.1016/j.ajhg.2022.11.011))
Genomics England Research Consortium, Genetti, C., Pinelli, M., Brunetti-Pierri, N., Garza-Flores, A., Jackson, A., Shahani, D., Saneto, R., Zampino, G., Leoni, C., Agolini, E., Novelli, A., Haack, B., Heinritz, W., Matzker, E., Alhaddad, B., Abou Jamra, R., Bartolomaeus, T., AlHamdan, S. & Carapito, R. & 19 others, , 2 Mar 2023, In: American Journal of Human Genetics. 110, 3, p. 548 1 p.Research output: Contribution to journal › Commentary/debate › peer-review
Open Access -
2021
Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood (npj Genomic Medicine, (2021), 6, 1, (92), 10.1038/s41525-021-00256-y): Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood (npj Genomic Medicine, (2021), 6, 1, (92), 10.1038/s41525-021-00256-y)
Levy, M. A., Beck, D. B., Metcalfe, K., Douzgou, S., Sithambaram, S., Cottrell, T., Ansar, M., Kerkhof, J., Mignot, C., Nougues, M.-C., Keren, B., Moore, H. W., Oegema, R., Giltay, J. C., Simon, M., van Jaarsveld, R. H., Bos, J., van Haelst, M., Motazacker, M. M. & Boon, E. M. J. & 14 others, , 24 Nov 2021, In: NPJ Genomic Medicine. 6, 1, p. 100 100.Research output: Contribution to journal › Commentary/debate › peer-review
Open Access -
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint (European Journal of Human Genetics, (2021), 29, 9, (1332-1336), 10.1038/s41431-021-00901-1)
Solve-RD-DITF-RND & The Solve-RD Consortium, Sept 2021, In: European Journal of Human Genetics. 29, 9, p. 1462-1465 4 p.Research output: Contribution to journal › Commentary/debate › peer-review
Open Access -
Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis (European Journal of Human Genetics, (2021), 29, 9, (1359-1368), 10.1038/s41431-021-00900-2)
Solve-RD SNV-indel working group & Solve-RD DITF-ITHACA, Sept 2021, In: European Journal of Human Genetics. 29, 9, p. 1470-1471 2 p.Research output: Contribution to journal › Commentary/debate › peer-review
Open Access -
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases (European Journal of Human Genetics, (2021), 29, 9, (1325-1331), 10.1038/s41431-021-00859-0)
Solve-RD consortium, Sept 2021, In: European Journal of Human Genetics. 29, 9, p. 1459-1461 3 p.Research output: Contribution to journal › Commentary/debate › peer-review
Open Access -
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
Solve-RD SNV-indel working group, Solve-RD DITF-GENTURIS, Solve-RD DITF-ITHACA, Solve-RD DITF-euroNMD, Solve-RD-DITF-RND & The Solve-RD Consortium, Sept 2021, In: European Journal of Human Genetics. 29, 9, p. 1466-1469 4 p.Research output: Contribution to journal › Commentary/debate › peer-review
Open Access -
2019
Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
Mucha, B., Banka, S., Ajeawung, N., Molidperee, S., Chen, G., Koenig, M., Adejumo, R., Till, M., Harbord, M., Perrier, R., Lemyre, E., Boucher, R., Skotko, B. & Campeau, P., Sept 2019, In: Genetics in medicine : official journal of the American College of Medical Genetics.Research output: Contribution to journal › Commentary/debate
Open Access -
2018
Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
Tatton-Brown, K., Hanks, S., Ruark, E., Zachariou, A., Del, V. D. S., Ramsay, E., Snape, K., Murray, A., Perdeaux, E., Seal, S., Loveday, C., Banka, S. & Rahman, N., Nov 2018, In: Oncotarget.Research output: Contribution to journal › Commentary/debate
Open Access -
2011
Erratum: Mutations in PRDM5 in Brittle Cornea syndrome identify a pathway regulating extracellular matrix development and maintenance (American Journal of Human Genetics (2011) 88 (767-777))
Burkitt Wright, E. M. M., Spencer, H. L., Daly, S. B., Manson, F. D. C., Zeef, L. A. H., Urquhart, J., Zoppi, N., Tosounidis, I., Mohan, M., Madden, C., Dodds, A., Chandler, K. E., Banka, S., Au, L., Clayton-Smith, J., Khan, N., Biesecker, L. G., Wilson, M., Rohrbach, M. & Colombi, M. & 2 others, , 12 Aug 2011, In: American Journal of Human Genetics. 89, 2, p. 346 1 p.Research output: Contribution to journal › Commentary/debate › peer-review
Open Access