Research output per year
Research output per year
Personal profile
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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Dive into the research topics where Frances Flinter is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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100,000 genomes pilot on rare-disease diagnosis in health care — Preliminary report
The 100,000 Genomes Project Pilot Investigators, 11 Nov 2021, In: New England Journal of Medicine. 385, 20, p. 1868-1880 13 p.Research output: Contribution to journal › Article › peer-review
Open Access361 Citations (Scopus) -
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome
Genomics England Research Consortium, 1 May 2020, In: GENETICS IN MEDICINE. 22, 5, p. 867-877 11 p.Research output: Contribution to journal › Article › peer-review
Open Access39 Citations (Scopus) -
Atypical Neurogenesis in Induced Pluripotent Stem Cells From Autistic Individuals
Adhya, D., Swarup, V., Nagy, R., Dutan, L., Shum, C., Valencia-Alarcón, E. P., Jozwik, K. M., Mendez, M. A., Horder, J., Loth, E., Nowosiad, P., Lee, I., Skuse, D., Flinter, F. A., Murphy, D., McAlonan, G., Geschwind, D. H., Price, J., Carroll, J. & Srivastava, D. P. & 1 others, , 1 Jan 2020, (Accepted/In press) In: Biological psychiatry.Research output: Contribution to journal › Article › peer-review
Open Access33 Citations (Scopus) -
Whole-genome sequencing of patients with rare diseases in a national health system
NIHR BioResource for the 100,000 Genomes Project, Turro, E., Astle, W. J., Megy, K., Gräf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., Stephens, J., Mapeta, R., Burren, O. S., Downes, K., Haimel, M., Tuna, S., Deevi, S. V. V., Aitman, T. J. & Bennett, D. L. & 31 others, , 2 Jul 2020, In: Nature. 583, 7814, p. 96-102 7 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile336 Citations (Scopus)1976 Downloads (Pure) -
Delivering genomic medicine in the United Kingdom National Health Service: a systematic review and narrative synthesis
Pearce, C., Goettke, E., Hallowell, N., McCormack, P., Flinter, F. & McKevitt, C., Dec 2019, In: GENETICS IN MEDICINE. 21, 12, p. 2667-2675 9 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile20 Citations (Scopus)232 Downloads (Pure)
Projects
- 2 Finished
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Deletions of chromosome 22 in patients with cleft lip and/or palate.
Flinter, F. (Primary Investigator)
Special Trustees of Guys & St Thomas' Hospital
1/09/1997 → 28/02/1998
Project: Research
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Identification of the gene defects in Bartter syndrome and Gitelman syndrome.
Flinter, F. (Primary Investigator)
1/01/1997 → 31/12/1999
Project: Research