Institut für Humangenetik 🧬 | Uniklinik Leipzig
@hug_leipzig
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Das Institut bietet genetische Diagnostik & ambulante Beratungen an. Zudem erfolgt Forschung zu seltenen Erkrankungen & studentische Lehre am @UKL_Leipzig.
Philipp-Rosenthal-Str. 55
Joined July 2022
JCI - Mutations in spliceosomal gene #SNW1 cause neurodevelopment disorders with microcephaly by @RamiJamra, etc.
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Hypothesis-free DNA 🧬methylation profiling in a 66-year-old male with unexplained neurodevelopmental disorder enabled the exclusion of ZNF142-related disease. #angelman #syndrome @angelman @PubMedOnline🔵by @platzer_k, @RamiJamra & @Ilona_Krey👥.
pubmed.ncbi.nlm.nih.gov
Hypothesis-free DNA methylation profiling in a 66-year-old male with unexplained neurodevelopmental disorder enabled the exclusion of ZNF142-related disease (left panel) and led to a retrospective...
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🆕Biallelic loss-of-function variants in #ZNF142. Our findings provide evidence that biallelic loss-of-function ZNF142 variants result in a specific and robust DNAm signature: 🔛@Nature by @Ilona_Krey, @platzer_k, @RamiJamra.
nature.com
European Journal of Human Genetics - Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci
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📢 We're hiring (again!) – a doctor in training! Active participation in direct human genetic patient care 💙 Deadline: Tuesday 20th May 2025. Apply online here:.
bewerberportal.uniklinikum-leipzig.de
Unsere lieben Kolleg*innen in Leipzig haben eine freie Stelle in der ärztlichen Weiterbildung:.Mega Team und eine tolle Chance!.
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RT @KrawitzPeter: Exciting ClinVar Charts for 2025 Q1: in total >1k new submissions. Köln zieht an Erlangen vorbei. Hannover deklassiert Be….
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RT @platzer_k: Happy to finally share our latest Mendelian gene discovery work on #KDM2A where de novo variants cause a syndromic neurodeve….
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RT @platzer_k: Final talk by Franziska Schnabel of @hug_leipzig on real added value of srGS in diagnosing rare diseases compared to exomes.….
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RT @platzer_k: Now @Ilona_Krey of @hug_leipzig presents her project on elderly patients with developmental & epileptic encephaloathy. Used….
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On our way to Innsbruck! 🚀 #GfH2025.
We are excited that 7 of our abstracts were selected as oral presentations for the GfH Annual Genetic Conference 2025 in Innsbruck April 2-4. Wow! 🤯. We are looking forward to going to Innsbruck this year. @hentschelju @Ilona_Krey @Diana_Le_Duc @NeuserSonja @platzer_k et al. 🚀
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MBOAT7 encephalopathy: Characterizing the #neurology and #epileptology. We aimed to characterize the epilepsy phenotype in a cohort of patients affected by this #syndrome (15 patients with biallelic #MBOAT7 variants). ↪️ @RTJauss, @platzer_k.
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There has been a 🆕 Investigation of #ATM #missenseVariants of uncertain significance (#VUS) by integrating results from systematic functional tests into an acmg point-based framework - check it out: #moderaterisk #cancer #susceptibility #gene @hentschelju.
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This week we welcomed our very good collaborator @SteffenSyrbe who gave us an overview on epilepsy syndromes due to variants in the MTOR & RAS/MAP kinase signaling pathways & the increasing treatment options. Dinner together later on closed out the evening. Thanks for the visit!
Heute um 16.00 Uhr findet das 11. Kolloquium der #Humangenetik statt. Prof. Dr. med. @SteffenSyrbe spricht zum Thema: „Wachstumskontrolle und Hirnentwicklung – Zentrale Stoffwechselwege im Kindesalter". Hier können Sie an der Besprechung teilnehmen: 🖥️.
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Heute um 16.00 Uhr findet das 11. Kolloquium der #Humangenetik statt. Prof. Dr. med. @SteffenSyrbe spricht zum Thema: „Wachstumskontrolle und Hirnentwicklung – Zentrale Stoffwechselwege im Kindesalter". Hier können Sie an der Besprechung teilnehmen: 🖥️.
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RT @CHAMP1Research: Tomorrow is CHAMP1 Awareness Day! 💜.The big day is almost here! On March 20th, we come together to raise awareness for….
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Drosophila #WDFY3/Bchs overexpression impairs neural function. Currently, more studies are focusing on the loss of WDFY3/Bchs & its effects on the nervous system ➤ by @hentschelju @RamiJamra @Diana_Le_Duc, etc. #neurogenetics.
tandfonline.com
Pathogenic variants in WDFY3, a gene encoding for an autophagy adaptor termed ALFY, are linked to neurodevelopmental delay and altered brain size in human probands. While the role of WDFY3 loss-of-...
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Detecting Monogenic #Obesity: A Systematic Exome-Wide Workup of Over 500 Individuals. This study aims to assess the diagnostic yield of monogenic obesity using #exome-wide data. Results here: *⃣ by @RamiJamra, @lemke_johannes, @Diana_Le_Duc, @DennyPopp . .
medrxiv.org
Background/Objectives Obesity poses a major public health concern. Although BMI heritability is estimated at 40–80%, genetic diagnostics remain challenging. This study aims to ( i ) assess the...
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RT @eshgsociety: Registration for #eshg2025 is now open. Register now and profit from early bird rates until April 10, 2025: .
2025.eshg.org
Registration for ESHG 2025 is now open. The European Society of Human Genetics is planning the 2025 conference as a hybrid conference. This will allow attendees to participate in-person or online...
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„Tag der Seltenen Erkrankungen“ #RareDiseaseDay am Donnerstag, den 27. Februar 2025. Ab 14: 00 Uhr LIVE über folgenden Link: #UZSEL #ZSE @ACHSEeV @rarediseaseday
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🖥️ Webcast Einladung zum „Tag der Seltenen Erkrankungen“ am 27.02. Der virtuelle Raum steht ab 13:30 zur Verfügung. Wir freuen uns auf Ihre Fragen im Chat! @rarediseaseday @ACHSEeV #NAKSE 🫂💙
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Die "Cancer Grand Rounds" vom Mitteldeutschen Krebszentrum @CCCGLeipzigJena 🫂 gehen wieder los! Unsere Kollegin PD Dr. Julia Hentschel @hentschelju sprach über: "Polygene Risikoscores bei erblichem #Brustkrebs" und die Prävention. Hier zum Webcast🎦:
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