@NeuserSonja

MD @ Institute of Human Genetics, Leipzig | passionate about gardening, nature and science.

 Leipzig, Germany
Joined March 2020
  • Tweets66
  • Following113
  • Followers86
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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/…

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental...

Variants in RNU4-2 , encoding the small nuclear RNA (snRNA) U4, were recently identified as a major cause of neurodevelopmental disorders (ReNU syndrome). Here, we investigated de novo variants in 50...

medrxiv.org
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🆕results from automated detection of uniparental disomies in a large cohort ➡️this paper shows an approximately equal inheritance rate of paternal and maternal origin within our cohort 🌐 link.springer.com/article/10… @hentschelju @izzy_schu etc.
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In a joint clinical study with #Harvard, #genetics researchers from #UniLeipzig provide important insights into the diagnosis of genetic #diseases. @broadinstitute @harvardmed @RamiJamra @UKL uni-leipzig.de/en/newsdetail…

When is genome sequencing advisable?

Scientists from the Broad Institute of MIT and Harvard, Harvard Medical School, and the University of Leipzig Medical Center (UKL) have shown in two independent patient cohorts when a genome sequen...

uni-leipzig.de
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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

Karriere - MGZ - Medizinisch Genetisch Zentrum

mgz-muenchen.de
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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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Sonja Neuser retweeted
eshg_young@eshg_young31 May 2024
Welcome to kick-off of our activities at #eshg2024! 📷 Join us at Get2Gether on Sat, June 1, 12:15-13:15 CEST, Room 2. Co-organized by @eshg_young & @juhumgen. Learn about European Young Initiatives in Human Genetics and shape the future with us! #genetics #genomics @eshgsociety
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Sonja Neuser retweeted
Denny Popp@DennyPopp1 Jun 2024
Replying to @hug_leipzig
On my way to #ESHG2024 Happy to present some great examples of how to use #LongReads for clinical applications using @Nanopore #NewToESHG
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Looking forward to #eshg2024! Four days of fascination for genes ahead of us 🙌 If you want to learn from our project on parental mosaicism of de novo variants in a large family cohort 📆 04.06. 11.00 @Fantastics OMICs session. Slides in preparation 📊
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Sonja Neuser retweeted
Robin Jauss@RTJauss17 Apr 2024
Our MorbidGenes panel comprising all genes of diagnostic relevance is now available at morbidgenes.uni-leipzig.de/ 🧬 Also check out our recent preprint on how the panel is generated 👇
medRxiv@medrxivpreprint16 Apr 2024
The MorbidGenes panel: a monthly updated list of diagnostically relevant rare disease genes derived from diverse sources medrxiv.org/cgi/content/shor… #medRxiv
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Sonja Neuser retweeted
Jürgen Kasek@JKasek21 Jan 2024
Leipzig , Zehntausende Menschen. #le2101 – at Leipzig, Germany
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Countdown läuft - in 14 Tagen beginnt das auf zwei Jahre ausgelegte Weiterbildungscurriculum für klinische Genetik. Einmal pro Woche 30 Minuten zu einem spezifischen Krankheitsbild. Sichert Euch Euren Platz JETZT! Nur 100 Euro pro Jahr für GfH Mitglieder.
Christian Schaaf@cpschaaf31 Oct 2023
Neues Weiterbildungsformat für klinische Genetik: "Die genetische halbe Stunde". Ab Januar, jede Woche, Donnerstagmorgens, 30 Minuten. Curriculum über zwei Jahre. Anmeldung über akademie-humangenetik.de/de/…
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🆕article about heterozygous variants in RAR-related orphan receptor B (#RORB) have recently been associated with susceptibility to idiopathic generalized epilepsy. Read more: is.gd/E5VgoY by @NeuserSonja @platzer_k @tomaeusTo @RamiJamra @piazah04 @AANmember etc.

Molecular and Phenotypic Characterization of the RORB-Related Disorder | Neurology

Background and ObjectivesHeterozygous variants in RAR-related orphan receptor B (RORB) have recently been associated with susceptibility to idiopathic generalized epilepsy. However, few reports have...

neurology.org
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Very proud to share our preprint on using ONT as diagnostic toolkit for analyzing allele-specific methylation in a case of IKBKG-associated Incontinentia pigmenti. Special thanks to @ahtingsi and @DennyPopp for this great work. medrxiv.org/content/10.1101/…

Incorporating Nanopore Sequencing into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti

Background Incontinentia pigmenti (IP) is a rare, hereditary multisystemic disorder affecting 1.2 in 100,000 live births, predominantly females. Conventional genetic analyses through short-read...

medrxiv.org
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Highlight of my genetic year: #GfHJAK2023 - great location, superb organisation, inspiring talks&workshops and the best: meeting 70 other young geneticists! And all baby-friendly 🙌
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Delighted to share our work on the super rare RAB11B disorder w/ novel variants and mild clinical presentation. Many thanks 👏 to Natalie, @RamiJamra and all co-authors. Full text non-paywalled available until 8th Nov: sciencedirect.com/science/ar…
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Introducing our Tri-Institutional Seminar Series on Pediatric Movement Disorders ’23-24 @BostonChildrens @SickKidsNews @ChildrensNatl - as part of our Movement Disorders fellowship. We are grateful to our amazing speakers. @movedisorder @ChildNeuroSoc @icnapedia @EPNSnews
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🆕Article online: Our study refined the phenotypic and genetic landscape of #POU3F3-related disorders. Read more here: doi.org/10.1111/cge.14353. Thx to all authors @platzer_k @NeuserSonja @FiladelfiaGene1 etc..

POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum

Clinicians should suspect POU3F3-related disorder when a patient presents with developmental delay mainly affecting speech, psychiatric comorbidities and facial dysmorphisms. Additional features...

onlinelibrary.wiley.com
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Excited to share our latest collaborative work on #POU3F3! The first fruit of a hopefully long collaboration🤞Thanks to @AllanBayat @FiladelfiaGene1 @NeuserSonja @Lot_SB and all coauthors onlinelibrary.wiley.com/doi/…

POU3F3‐related disorder: Defining the phenotype and expanding the molecular spectrum

Clinicians should suspect POU3F3-related disorder when a patient presents with developmental delay mainly affecting speech, psychiatric comorbidities and facial dysmorphisms. Additional features...

onlinelibrary.wiley.com
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