Research output per year
Research output per year
Organisation profile
Organisation profile
Website: www.ed.ac.uk/igmm
Director: Professor Wendy Bickmore, FRSE, FMEdSci
The Medical Research Council Human Genetics Unit is at the forefront of research into human genetics. Its role is to advance the understanding of genetic factors implicated in human disease and normal and abnormal development and physiology.
The Unit's programmes of work cover the themes of developmental genetics, common disease genetics, chromosome biology and models for human genetic diseases. The unit is one of the largest MRC research establishments supporting approximately 220 scientists, support staff, fellows, PhD students and visiting scientists.
The Unit is a partner in the MRC Institute of Genetics and Molecular Medicine (IGMM) at The University of Edinburgh - an exciting development bringing together the MRC Human Genetics Unit, the Centre for Genomics and Experimental Medicine and the Edinburgh Cancer Research Centre.
Fingerprint
Dive into the research topics where MRC Human Genetics Unit is active. These topic labels come from the works of this organisation's members. Together they form a unique fingerprint.
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
Profiles
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Ian Adams
- Deanery of Molecular, Genetic and Population Health Sciences - Personal Chair of Germline Biology
- MRC Human Genetics Unit
- Royal (Dick) School of Veterinary Studies - Chair position in Reproductive Biotechnologies
Person: Academic: Research Active
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Stuart Aitken
- Deanery of Molecular, Genetic and Population Health Sciences - Bioinformatician
- MRC Human Genetics Unit
Person: Academic: Research Active
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Craig Anderson
- Deanery of Molecular, Genetic and Population Health Sciences - Research Fellow
- MRC Human Genetics Unit - Research Fellow
Person: Academic: Research Active (Research Assistant)
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MDA5 gain-of-function associated with a Glu794del mutation
E794del Consortium, Crow, Y. J. & Uggenti, C., 2 Oct 2024, In: Journal of Clinical Immunology.Research output: Contribution to journal › Letter › peer-review
Open AccessFile -
Regionally enriched rare deleterious exonic variants in the UK and Ireland
Halachev, M., Gountouna, V-E., Meynert, A. M., Tzoneva, G., Shuldiner, A. R., Semple, C. A. & Wilson, J. F., 2 Oct 2024, In: Nature Communications.Research output: Contribution to journal › Article › peer-review
Open AccessFile -
Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization
EPIC-InterAct Consortium, Willems, S. M., Campbell, A., Davies, G., Pattie, A., Redmond, P., Deary, I. J., Hayward, C., Morris, A. P., Porteous, D., Rudan, I., Morris, A. P. & Barroso, I., 30 Sept 2024, In: Wellcome Open Research. 8, 33 p., 483.Research output: Contribution to journal › Article › peer-review
Open AccessFile
Activities
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Edinburgh Chromatin, Epigenetics and Transcriptional Regulation Network
Douglas Vernimmen (Organiser), Sari Pennings (Organiser), Nezha Benabdallah (Speaker), Yatendra Kumar (Speaker), Jeroen Witteveldt (Speaker) & Stefan Bresson (Speaker)
6 Mar 2024Activity: Participating in or organising an event types › Participation in workshop, seminar, course
File -
Eukaryotic mRNA processing
Javier Caceres (Advisor)
22 Aug 2023 → 26 Aug 2023Activity: Participating in or organising an event types › Participation in conference
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Edinburgh Chromatin, Epigenetics and Transcriptional Regulation Network
Douglas Vernimmen (Organiser), Sari Pennings (Organiser), Hannah Long (Speaker), Rafal Czapiewski (Speaker) & Michael O'Dwyer (Speaker)
22 Jun 2022Activity: Participating in or organising an event types › Participation in workshop, seminar, course
File
Prizes
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CMVM Student experience award
Navarro, Pau (Recipient), 10 Nov 2022
Prize: Prize (including medals and awards)
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Elected as a member of the Latin American Academy of Sciences (ACAL)
Caceres, Javier (Recipient), 2021
Prize: Election to learned society
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Elected as Fellow of the Royal Society
Jackson, Andrew (Recipient), 2020
Prize: Election to learned society
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Cis-Regulatory mechanisms in genetic eye disease (Transition Programme)
1/04/23 → 31/03/28
Project: Research
Datasets
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eHistology Atlas: Plates 02-15 Early Gestation (E5.5 – E8.5)
Graham, E. (Creator), Moss, J. (Creator), Burton, N. (Creator), Roochun, Y. (Creator), Armit, C. (Creator), Richardson, L. (Creator) & Baldock, R. (Creator), Edinburgh DataShare, 21 Jan 2016
https://datashare.is.ed.ac.uk/handle/10283/943
Dataset
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eHistology Atlas: Plates S1-S6 Coronal Supplement (E11.5-E15.5)
Graham, E. (Creator), Moss, J. (Creator), Burton, N. (Creator), Roochun, Y. (Creator), Armit, C. (Creator), Richardson, L. (Creator) & Baldock, R. (Creator), Edinburgh DataShare, 19 Dec 2016
https://datashare.is.ed.ac.uk/handle/10283/2198 and one more link, http://www.emouseatlas.org/emap/eHistology/supplement (show fewer)
Dataset
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Fossilization processes have little impact on tip-calibrated divergence time analyses
O'Reilly, J. (Creator), Dryad, 8 Jul 2021
DOI: 10.5061/dryad.b2rbnzsd4, http://datadryad.org/stash/dataset/doi:10.5061/dryad.b2rbnzsd4
Dataset
Press/Media
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Science behind DecodeME points to better treatments for Covid-19
14/12/20
1 Media contribution
Press/Media: Public Engagement Activities
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Evidence for 28 genetic disorders discovered by combining healthcare and research data
14/10/20
1 item of Media coverage
Press/Media: Research