julenviana21 (@julenviana21) 's Twitter Profile
julenviana21

@julenviana21

ID: 1270799793728770055

calendar_today10-06-2020 19:27:54

234 Tweet

78 Followers

147 Following

Barcelona En Comú (@bcnencomu) 's Twitter Profile Photo

En verd els barris on ha guanyat Junts. En vermell els barris on guanya la suma BComú + ERC + PSC. Barcelona necessita un govern progressista. Que no decideixi Pedralbes.

En verd els barris on ha guanyat Junts. En vermell els barris on guanya la suma BComú + ERC + PSC.

Barcelona necessita un govern progressista. Que no decideixi Pedralbes.
Laura Valle (@lvalleresearch) 's Twitter Profile Photo

📣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

Laura Valle (@lvalleresearch) 's Twitter Profile Photo

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

Laura Valle (@lvalleresearch) 's Twitter Profile Photo

Check out the new website of our Hereditary Cancer Group at IDIBELL hereditarycancergroup.com and in this section hereditarycancergroup.com/team/colorecta… details of my team (Colorectal Cancer Predisposition): members, projects, publications, and more!

Check out the new website of our Hereditary Cancer Group at <a href="/idibell_cat/">IDIBELL</a>   
hereditarycancergroup.com 

and in this section hereditarycancergroup.com/team/colorecta…
details of my team (Colorectal Cancer Predisposition): members, projects, publications, and more!
Laura Valle (@lvalleresearch) 's Twitter Profile Photo

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

Laura Valle (@lvalleresearch) 's Twitter Profile Photo

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

Laura Valle (@lvalleresearch) 's Twitter Profile Photo

📣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…

📣Hot off the press!  
<a href="/kevinjmonahan/">Kevin Monahan</a> and I have written one of the most comprehensive reviews to date on GASTROINTESTINAL POLYPOSIS 

Published in <a href="/TheLancet/">The Lancet</a> Gastroenterology &amp; Hepatology.

Free access until Christmas Eve through this link: authors.elsevier.com/a/1i1aI8nByr8u…
Laura Valle (@lvalleresearch) 's Twitter Profile Photo

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

Laura Valle (@lvalleresearch) 's Twitter Profile Photo

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

Laura Valle (@lvalleresearch) 's Twitter Profile Photo

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

Check out our new article in collab. with Tom van Wezel's group.
&gt;Evidence linking germline NPAT mutations with colorectal cancer predisposition
&gt;NPAT deficiency might lead to high chromosomal instability in tumors
<a href="/idibell_cat/">IDIBELL</a>, <a href="/LUMC_Leiden/">LUMC Leiden</a> 
<a href="/ejhg_journal/">European Journal of Human Genetics</a>
rdcu.be/dIMv7
Laura Valle (@lvalleresearch) 's Twitter Profile Photo

Excellent Flash presentation by our PhD student ⁦julenviana21⁩ at #InSiGHT2024 on improving POLE and POLD1 variant classification. I’m very proud! ⁦IDIBELL

Excellent Flash presentation by our PhD student ⁦<a href="/julenviana21/">julenviana21</a>⁩ at #InSiGHT2024 on improving POLE and POLD1 variant classification.
I’m very proud! 

⁦<a href="/idibell_cat/">IDIBELL</a>⁩
Laura Valle (@lvalleresearch) 's Twitter Profile Photo

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

IDIBELL (@idibell_cat) 's Twitter Profile Photo

Investigadors catalans descriuen l'impacte clínic i molecular de mutacions en gens clau en la replicació i reparació de l'🧬 Un avenç més en el coneixement de la síndrome de predisposició hereditària i els tumors hipermutats associats a les mutacions🔬 👉idibell.cat/2025/08/avenco…

Investigadors catalans descriuen l'impacte clínic i molecular de mutacions en gens clau en la replicació i reparació de l'🧬

Un avenç més en el coneixement de la síndrome de predisposició hereditària i els tumors hipermutats associats a les mutacions🔬

👉idibell.cat/2025/08/avenco…
IDIBELL (@idibell_cat) 's Twitter Profile Photo

Catalan researchers describe the clinical and molecular impact of mutations in key genes in the DNA replication and repair🧬 A further advance in the knowledge of hereditary predisposition syndrome and hypermutated tumors associated with mutations🔬 👉idibell.cat/en/2025/08/adv…

Catalan researchers describe the clinical and molecular impact of mutations in key genes in the DNA replication and repair🧬

A further advance in the knowledge of hereditary predisposition syndrome and hypermutated tumors associated with mutations🔬

👉idibell.cat/en/2025/08/adv…
CIBER ISCIII (@ciber_isciii) 's Twitter Profile Photo

🔬 Un nuevo estudio analiza el impacto de #mutaciones en los #genes POLE y POLD1, asociadas al síndrome de predisposición hereditaria y a diversos #tumores hipermutados. ➡️ciberisciii.es/noticias/descr…

🔬 Un nuevo estudio analiza el impacto de #mutaciones en los #genes POLE y POLD1, asociadas al síndrome de predisposición hereditaria y a diversos #tumores hipermutados.

➡️ciberisciii.es/noticias/descr…
Institut Català d'Oncologia (@ico_oncologia) 's Twitter Profile Photo

Avenç en el coneixement de la síndrome de predisposició hereditària i dels tumors hipermutats. Investigadors #ICO i Zobeidi descriuen l’impacte clínic i molecular de mutacions en gens clau per a la replicació i reparació de l’ADN. 👉ico.gencat.cat/ca/detall/noti… CIBER ISCIII

Avenç en el coneixement de la síndrome de predisposició hereditària i dels tumors hipermutats.

Investigadors #ICO i <a href="/idibell/">Zobeidi</a> descriuen l’impacte clínic i molecular de mutacions en gens clau per a la replicació i reparació de l’ADN.

👉ico.gencat.cat/ca/detall/noti…

<a href="/CIBER_ISCIII/">CIBER ISCIII</a>