Konrad Platzer
@platzer_k
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Institute of Human Genetics @hug_leipzig @UKL_Leipzig • 👨💻 neurodevelopmental disorders (w/ epilepsy) 🧠 • rare diseases • gene discovery • apprentice in 📸
Leipzig, Germany
Joined October 2019
RT @DennyPopp: Quite excited to share our latest publication: Incorporating Nanopore Sequencing Into a Diverse Diagnostic Toolkit for Incon…
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RT @hug_leipzig: It was a pleasure that Olaf Rieß came to our institute yesterday to talk about modern genomic diagnostics. The sheer prowe…
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RT @LalDennis: 📢 Pre-print alert! 🤖 Rare Disease AI Podcast 🎙️ 1/4 Our team around @EdoPerezP explored how AI-driven podcasts could trans…
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RT @ahoischen: It’s a privilege to announce Solve-RD’s latest manuscript based on years of work: “Genomic reanalysis of a pan-European rare…
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RT @FiladelfiaGene1: New preprint alert 📢 The natural history of #CDKL5 deficiency disorder into adulthood ❗ Our findings will inform man…
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RT @hug_leipzig: It was great to have @FTuttelmann visit our institute yesterday. He gave a very informative overview on (male) reproductiv…
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RT @HeidiRehm: I know many of you have been awaiting us launching transcript expression data in gnomAD. We were waiting for the GTEx v10 re…
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Multiple new #MorbidGene|s for neurodevelopmental disorders (mainly #CCT1, #CCT3 & #CCT6) in this recent @ScienceMagazine paper by @flokraft_ et. al. 👇
I am excited to share our latest research findings with you. We have identified a new group of neurodevelopmental disorders, which we are calling "TRICopathies," caused by de novo mutations in genes encoding the subunits of the TRiC complex. 1/8
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RT @VGaneshMDPhD: Excited to report our study in @NEJM on the discovery of deletions in a long noncoding RNA gene 🧬 (𝘊𝘏𝘈𝘚𝘌𝘙𝘙) as the cause…
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RT @NicoleLake: Excited to share our @Nature paper introducing constraint metrics for #mtDNA! Constraint models are powerful tools that wer…
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