Joined April 2015
- Tweets 250
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- Followers 101
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18 Jul 2023
Sometimes it is worth looking back: We re-analysed and re-evaluated >5 year old exomes of 152 individuals with ID. In 18%, the classification has changed with clinical relevance. nature.com/articles/s41431-0…
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Tobias Bartolomaeus retweeted
Jan 9
Our paper on how de novo variants in #KDM2A cause a syndromic neurodevelopmental disorder is finally out in @AJHGNews 👇 🎉
📣 New from @platzer_k & co!
📄De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
cell.com/ajhg/fulltext/S0002…
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Tobias Bartolomaeus retweeted
In addition, we will present 9 abstracts as posters. 😀
Great work by the team. It's going to be an awesome conference. See you there. 👋
gfhev.de/tagungen-und-fortbi…
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18 Nov 2024
Anyone out there who is confident in interpreting short read and ONT long read data from the ATAD3 cluster? I am having a bit of a challenge making sense of it in a patient suspected to have a homozygous deletion/rearrangement?
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Tobias Bartolomaeus retweeted
28 Oct 2024
The MorbidGenes panel: a monthly updated list of diagnostically relevant rare disease genes derived from diverse sources #RareDisease #Genetics link.springer.com/article/10…
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Tobias Bartolomaeus retweeted
24 Oct 2024
Missense Z scores based on @gnomad_project v4.1 are now available on gene pages.
These scores measure the amount that a gene is constrained for missense variants.
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Tobias Bartolomaeus retweeted
22 Oct 2024
Direct RNA sequencing can only be done using @nanopore . I didn’t realize that there are 100 different kinds of RNA modifications ! Slide also from Morghan Lucas, MGZ Munich
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Tobias Bartolomaeus retweeted
8 Oct 2024
This is such a beautiful paper led by @ChristelDepienn and Caroline Nava, further characterising ReNU syndrome (caused by variants in RNU4-2) and also detailing a role for RNU5B-1 in NDD 🧬
Some highlights 🧵1/8
8 Oct 2024
Thrilled to share a new preprint on the role of RNU4-2 and RNU5B-1 variants in neurodevelopmental disorders, now online in MedRxiv. 1/12 🧵medrxiv.org/content/10.1101/…
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Tobias Bartolomaeus retweeted
3 Sep 2024
SpliceVarDB: A comprehensive database of experimentally validated human splicing variants #RareDisease #Genetics #splicing cell.com/ajhg/fulltext/S0002…
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Tobias Bartolomaeus retweeted
@hentschelju @izzy_schu & Johanna Moch, Maximilian Radtke, Thomas Liehr, Thomas Eggermann, Christian Gilissen, Rolph Pfundt, Galuh Astuti 🤝
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Tobias Bartolomaeus retweeted
9 Jul 2024
We explored why pathogenic variants are present in the gnomAD database for early-onset, severe, dominant conditions. Explanations identified for most but some likely due to incomplete penetrance though more study needed. 1/3
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Tobias Bartolomaeus retweeted
17 Jun 2024
Thank you @RNASociety for your support, awarding me the @bio_eclipse graduate award in high-throughput biology for my PhD work with @nanopore sequencing, and for organising the #RNA24 conference!
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Tobias Bartolomaeus retweeted
11 Jun 2024
Figeno, my visualization tool for genomics🎨🧬, is now published in Bioinformatics! doi.org/10.1093/bioinformati…
It can generate publication-quality figures for sequencing data along genomic coordinates: bigwig, HiC, @nanopore data with base modifications, and WGS with CNAs and SVs.
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Tobias Bartolomaeus retweeted
11 Jun 2024
We just updated our @hug_leipzig candidate gene list on @ZENODO_ORG 🧬
240 new entries since our last update in October 2023✅
Great team effort by @RamiJamra @platzer_k @RTJauss @Ilona_Krey @lemke_johannes @tomaeusTo et al. 💪
zenodo.org/records/11561821
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Tobias Bartolomaeus retweeted
5 Jun 2024
The Chromatones on a post conference run this morning in Berlin. Thanks for bringing your energy to the dance floor the other night #ESHG2024 @CelineLewis23
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6 Jun 2024
open position @MGZMuenchen
we are looking for PhD student to join our research team for a project focused on advancing the early detection of tumors using non-invasive methods
mgz-muenchen.de/stellenangeb…
#liquidbiopsy #Bioinformatics #PrecisionOncology #ctDNA
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Tobias Bartolomaeus retweeted
31 May 2024
Happy to share our analysis on incorporating the gnomad v.4.0 exome dataset in a diagnostic setting. Find direct links to newly represented potential relevant ClinVar variants on poster P15.002.B #eshg2024 tinyurl.com/5595utwd
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