Ingo Helbig
@IngoHelbig
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Child Neurologist, epilepsy genetics researcher, blogger
Philadelphia, USA
Joined March 2009
I became a US citizen today. here is my blog post on Life, Liberty, and the Pursuit of Precision Medicine .
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AP2M1 and the mystery of missing haploinsufficient genes | Beyond the Ion Channel. just published our blog post on AP2M1 as a candidate gene in the 3q27 microdeletion. and the missing genes that should cause haploinsufficiency phenotypes.
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RT @NeuroWoodworks: An astrocyte sculpture made out of cherry wood. Neurons are not the only important cells of the brain!!! ✨🧠🔬 https://t.….
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RT @LalDennis: New paper on advanced missense variant classification from our team: Our para-SAME/DIFF extension pulls in paralogue evidenc….
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RT @DiseaseGenes: The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series https://t.co/….
pubmed.ncbi.nlm.nih.gov
Heterozygous NUS1 pathogenic variants cause a complex neurological disorder, variably featuring developmental and epileptic encephalopathies and a broad spectrum of movement disorders, which repres...
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Beyond the Ion Channel | RBFOX3 and the Hunt for Epilepsy Genes in 100,000 Genomes. we just published our blog on the discovery of RBFOX3 as an epilepsy gene . 🔗 #epilepsy #genetics #RBFOX3 #neurogenetics #100KGenomes
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Five principles for teaching epilepsy genetics | Beyond the Ion Channel. our blog post for celebrating the 5th anniversary of our epilepsy genetics fellowship program.
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RT @tangming2005: Writing online has taught me more than I ever expected. Here’s why I do it and what I’ve learned along the way. 🧵 https:/….
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. GABRA2-related disorders follow the pattern of other GABA-A phenotypes. early-onset DEE with presumed GoF. milder presentation with LoF . GABRA2-related encephalopathy: Identification of two phenotypes with distinctive electroclinical features
pubmed.ncbi.nlm.nih.gov
Pathogenic variants in γ-aminobutyric acid type A (GABAA) receptor subunit genes are increasingly associated with epilepsy and neurodevelopmental disorders. Pathogenic variants in GABRA2, encoding...
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RT @doctorveera: A striking example of human genetics-driven molecular discovery. A GWAS of Yersinia pestis infection in 1,000 B cell lines….
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Nice mnemonic. imagine airport agents: Sensitivity is like scanning every bag to catch threats, even if some are harmless. Specificity is ignoring most bags but missing fewer threats.
CLINICAL DECISION MAKING. ''Sensitivity - vs - Specificity''. "Imagine you're running airport security, screening passengers (tests) to catch dangerous items (diseases). Now meet your two star agents: Sensitivity and Specificity. Sensitivity is your overachiever. It’s all about
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Predicting genetic epilepsies through EMR fingerprints | Beyond the Ion Channel. we just published our post on EMR-based prediction of genetic etiologies in childhood epilepsies.
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RT @StefanBarakat: New international collaborative work incl. our team on KDM2B: . KDM2B variants in the CxxC domain impair its DNA-binding….
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RT @DrDominicNg: DeepMind just dropped a 106-page paper unveiling AlphaGenome. This single model could completely redefine how we discover….
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. a good reminder that the accuracy of PRS needs to be viewed through a historical lens. strong early momentum with a subsequent plateau.
In this study, the authors take a panoramic look at how polygenic risk score (PRS) performance for major common diseases has evolved over the past 15 years. While GWAS sample sizes have steadily grown year after year, the gains in PRS accuracy showed strong early momentum but
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RT @GallowayLabMIT: So you want to change transgene expression: just change your promoter, right? Changing the promoter increases RNA and t….
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RT @Brain1878: Allington et al. identify an enrichment of de novo variants in LDB1 in children with a neurodevelopmental syndrome featuring….
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RT @MariosGeorgakis: A lesser-discussed use of polygenic risk scores (PRS): enriching clinical trial populations with high-risk individuals….
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