Very happy to report that our paper on the functional analysis of missense variants in the PALB2 WD40 domain is out! doi.org/10.1016/j.jb...

Happy to have contributed to one more step towards resolving Variants of Uncertain Significance in Cancer. ACMG/AMP guidelines for PALB2 authors.elsevier.com/sd/article/S...

Congratulations to the team on all their hard work on developing this first of its kind model! @andreaventura.bsky.social @psalmotoxin.bsky.social @wtklab.bsky.social @kytsailab.bsky.social @moffittnews.bsky.social

My corner of the Universe circa 1996 (New York City)

The feeling when you realize your instruments are not up to par with your superpowers!

My corner of the universe circa 1992 (Rio de Janeiro)

Very excited to be in Chicago at the CureBRCA meeting to discuss issues important for BRCA carriers and prostate cancer!

Smh, when you think things can’t get much worse… Elizabeth Holmes’s Partner Has a New Blood-Testing Start-Up www.nytimes.com/2025/05/10/b...

I'm delighted to be part of this symposium, put on by University of Pennsylvania Perelman School of Medicine, and led by @bpasaniuc.bsky.social and @sarahtishkoff.bsky.social. See you in a few weeks! upenn.co1.qualtrics.com/jfe/form/SV_...

A reminder: on BlueSky you need to repost in order to amplify, not simply 'like'.

It was great to contribute to this Transcriptome-wide associations study (TWAS) identifying genes associated with testicular cancer! authors.elsevier.com/sd/article/S...

Recharging…

Throwback Thursdays: Taking my DNA out for a ride

1/4 Since I decided to leave the platform formerly known as twitter, I did not know how to leave behind my posts. So, decided to do Throwback Thursdays and re-post here my old tweeter posts.

Excited to share our latest study in @nature.com We used a humanized-mouse ES cell model to explore the functional consequences of all possible BRCA2 missense variants. We've clinically classified >6,500 variants and >1,200 reported in ClinVar! www.nature.com/articles/s41...

Dr. Judy Garber shared the OlympiA Phase 3 trial results in today's #SABCS24 General Session. #olaparib #BRCA1 #BRCA2 #BreastCancer

Sorry I will miss it! If you are in San Antonio - highly recommend! Antonis Antoniou in San Antonio - with this alliteration who would miss it?

Finally had some time to make some nice bentos! Trying to avoid slow death by cafeteria food!

Good day for a fundraiser!

Totally glued to Gregory Radick’s phenomenal book - after his fantastic talk at ASHG

Check out our latest paper on the role of SART1 as a modulator of PARP1 function. Samuele Lodovichi led this study at @accidentalgenet.bsky.social lab. www.cell.com/iscience/ful...

Our latest is out! Proposes a new category of risk for BRCA1/2 variants: Reduced Penetrance Pathogenic Variants (RPPVs). rdcu.be/dYWmp

Look, I am in bluesky!

Why not start with floating chromosomes?