julenviana21
@julenviana21
ID: 1270799793728770055
10-06-2020 19:27:54
234 Tweet
78 Followers
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📣Final version of our article has been published. We hope you'll find it interesting. Wnt genes in colonic polyposis predisposition sciencedirect.com/science/articl… Isabel Quintana IDIBELL Institut Català d'Oncologia @CIBERONC Solve-RD CNAG BSC-CNS
Lynch syndrome: a single hereditary cancer syndrome or multiple syndromes defined by different mismatch repair genes? Final version already available at Gastroenterology 📣Anyone can use this link before August 09, 2023 to download it for free! authors.elsevier.com/a/1hHSQ3mEmfalm
Hot off the press: MBD4-associated neoplasia syndrome: screening of cases with suggestive phenotypes. by Laura Valle team IDIBELL Institut Català d'Oncologia @CIBERONC Of interest for InSiGHT CGA-IGC EHTGtweets Asociación Española de Genética Humana (AEGH) European Society of Human Genetics (ESHG) rdcu.be/df0nW
Very busy morning at #EHTG2023 for Laura Valle members! More to come julenviana21 And don’t miss the other talks from #hereditarycancer group at IDIBELL Marta Pineda
Laura Valle Ph student julenviana21 just presented at #EHTG2023 the group’s work on POLE and POLD1, with particular emphasis on his thesis work aimed to functionally evaluate genetic variants in those genes. IDIBELL EHTGtweets
I'm thrilled to share our new article on POLE and POLD1 variant classification Genome Medicine Outcome of the team's hard work, we hope it'll help improve diagnostic performance, avoiding variant misclassification. Classification of 128 variants included! rdcu.be/doPJQ
📣Hot off the press! Kevin Monahan and I have written one of the most comprehensive reviews to date on GASTROINTESTINAL POLYPOSIS Published in The Lancet Gastroenterology & Hepatology. Free access until Christmas Eve through this link: authors.elsevier.com/a/1i1aI8nByr8u…
This week our group, represented by PhD student julenviana21 , is at EMBL Cancer Genomics #EMBLCanGen Visit his poster if you want to learn about what we are doing to improve POLE and POLD1 variant classification! Laura Valle IDIBELL Institut Català d'Oncologia @CIBERONC
Exploring co-occurring POLE exonuclease and non-exonuclease domain mutations and their impact on tumor mutagenicity. pubmed.ncbi.nlm.nih.gov/38207205/ By @SanjeevaniArora Michael J Hall. We are very grateful for this collaboration. Pilar Mur julenviana21 Laura Valle IDIBELL
Check out our new article in collab. with Tom van Wezel's group. >Evidence linking germline NPAT mutations with colorectal cancer predisposition >NPAT deficiency might lead to high chromosomal instability in tumors IDIBELL, LUMC Leiden European Journal of Human Genetics rdcu.be/dIMv7
julenviana21 from Laura Valle on how to optimize POLE and POLD1 variant classification at #InSiGHT2024 Pilar Mur IDIBELL
About to start: Hereditary Cancer Retreat 2024 IDIBELL Institut Català d'Oncologia Vall d’Hebron Institute of Oncology (VHIO) IDIBGI Institut d'Investigació Biomèdica de Girona Two days of science, networking and social & outdoor activities in beautiful Costa Brava!
TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate From our group on Hereditary Cancer at IDIBELL and Institut Català d'Oncologia Led by Conxi Lazaro & 1st author Paula Rofes. Congrats! rdcu.be/d6k2m