Julian R. Sampson, CBE, FMedSci
Affiliations: | School of Medicine | Cardiff University, Cardiff, Wales, United Kingdom |
Area:
Clinical and molecular geneticsWebsite:
https://acmedsci.ac.uk/fellows/fellows-directory/ordinary-fellows/fellow/Julian-Sampson-0033z00002qIIaeAAGGoogle:
"Julian Sampson"Bio:
Director, Division of Cancer and Genetics and Professor of Medical Genetics.
Julian Sampson qualified in Medicine at University of Nottingham, UK, and trained in Medical genetics in Glasgow under Malcolm Ferguson-Smith. He moved to Cardiff in 1989 and in 2000 was appointed head of the Wales Institute of Medical Genetics. His principal contributions include isolation of the genes for tuberous sclerosis and the discovery of a recessively inherited form of colorectal cancer with polyposis.
Mean distance: (not calculated yet)
Parents
Sign in to add mentor| Malcolm Andrew Ferguson-Smith | grad student | 1989 | University of Glasgow (GenetiTree) |
BETA: Related publications
See more...
Publications
|
You can help our author matching system! If you notice any publications incorrectly attributed to this author, please sign in and mark matches as correct or incorrect. |
| Møller P, Seppälä TT, Ahadova A, et al. (2023) Dominantly inherited micro-satellite instable cancer - the four Lynch syndromes - an EHTG, PLSD position statement. Hereditary Cancer in Clinical Practice. 21: 19 |
| Sherwood K, Ward JC, Soriano I, et al. (2023) Author Correction: Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair. Nature Communications. 14: 3836 |
| Møller P, Seppälä T, Dowty JG, et al. (2022) Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium. Hereditary Cancer in Clinical Practice. 20: 36 |
| Palles C, West HD, Chew E, et al. (2022) Germline MBD4 deficiency causes a multi-tumor predisposition syndrome. American Journal of Human Genetics |
| Dominguez-Valentin M, Plazzer JP, Sampson JR, et al. (2021) No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in and : A Prospective Lynch Syndrome Database Study. Journal of Clinical Medicine. 10 |
| Klöckner C, Sticht H, Zacher P, et al. (2020) De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genetics in Medicine : Official Journal of the American College of Medical Genetics |
| Ahadova A, Seppälä TT, Engel C, et al. (2020) The "unnatural" history of colorectal cancer in Lynch syndrome: lessons from colonoscopy surveillance. International Journal of Cancer |
| Seppälä TT, Dominguez-Valentin M, Sampson JR, et al. (2020) Prospective observational data informs understanding and future management of Lynch syndrome: insights from the Prospective Lynch Syndrome Database (PLSD). Familial Cancer. 20: 35-39 |
| Dominguez-Valentin M, Seppälä TT, Sampson JR, et al. (2019) Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report. Hereditary Cancer in Clinical Practice. 17: 28 |
| Short E, Thomas LE, Davies A, et al. (2019) APC transcription studies and molecular diagnosis of familial adenomatous polyposis. European Journal of Human Genetics : Ejhg |