Julian R. Sampson

机构：Cardiff University · ORCID：0000-0002-2902-2348

发表论文 344 篇 · 总被引 31254 次 · h-index 78

代表论文

• Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision (2024 · British journal of surgery · 被引 105)
• Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes - an EHTG, PLSD position statement (2023 · Hereditary Cancer in Clinical Practice · 被引 50)
• Pan-Cancer Interrogation of MUTYH Variants Reveals Biallelic Inactivation and Defective Base Excision Repair Across a Spectrum of Solid Tumors (2024 · JCO Precision Oncology · 被引 23)
• Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated “Big Bang” pathway to CRC in three of the four Lynch syndromes (2024 · Hereditary Cancer in Clinical Practice · 被引 22)
• Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair (2023 · Nature Communications · 被引 20)
• Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections (2023 · Genetics in Medicine · 被引 11)