Ichilov Genetics

783 posts

Ichilov Genetics

@IchilovG

The Genetics Institute and Genomics Center; the Translational Genetics and Genomics Research Lab, Tel Aviv Sourasky Medical Center

Ichilov, Israel Katılım Mart 2022

347 Takip Edilen262 Takipçiler

Ichilov Genetics@IchilovG·1h

#NovelGene #MorbidGene

Francisco Martínez@FranMartinezGr

Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1111/cg…

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Ichilov Genetics@IchilovG·1d

Wishing everyone a good weekend

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Ichilov Genetics@IchilovG·1d

@91Whale הכל מוצלח יותר עם כלבים

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Dr.Whale91@91Whale·1d

@IchilovG איכילוב למה אתם מוצלחים גם עם כלבים

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Dr.Whale91@91Whale·2d

חברה חולה וכמובן שהחלפתי אותה אז אני עובד יום שישי שני ברציפות אתמול בערב כשעבדתי במיון מטופל איים עליי ברצח וזה היה די מפחיד ומסתבר שזה עושה קצת קשיים בשינה מפה לשם רציתי לשאול איך עובד הקטע הזה שמבקשים תמונות של כלבים או דברים שמשפרים מצב רוח

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Ichilov Genetics@IchilovG·3d

#NovelGene #MorbidGene

World Journal of Pediatrics@World_J_Pediatr

ARHGAP4 variants are associated with X-linked early-onset temporal lobe epilepsy link.springer.com/article/10.100… #meded #medx #pediatrics

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Ichilov Genetics@IchilovG·3d

#NovelGene #MorbidGene

Human Genetics and Genomics Advances@HGGAdvances

🧬New from Houge & colleagues! 📄Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunction 👉 tinyurl.com/37r4d8t8

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Ichilov Genetics@IchilovG·3d

@nohoska

QME

נעה@nohoska·4d

היום הייתי עצובה אפשר מלא תמונות של החיות שלכם?????

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nature@Nature·3d

Geneticist J. Craig Venter, best known for his role in sequencing the human genome, has died aged 79. He spoke to Nature in 2023 about AI, sequencing the ocean – and why he had no plans to stop working. go.nature.com/4tHEf9M

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Ichilov Genetics@IchilovG·3d

Not all loss-of-function variants have negative outcomes (disease). It's nice to see more works highlighting these "positive" mutations.

David J Glass MD@davidjglassMD

Our genetics of human myostatin study is now officially out (the unedited version was previously available): Humans with function-disrupting variants in the myostatin gene (MSTN) have increased skeletal muscle mass and strength, and less adiposity nature.com/articles/s4146…

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Ichilov Genetics@IchilovG·4d

#NovelGene #MorbidGene

Francisco Martínez@FranMartinezGr

Genetic variants in Rps4x cause intellectual disability with dysmorphic features, microcephaly, and autism #RareDisease #Genetics #morbidgene nature.com/articles/s4152…

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Ruslan Rust@rust_ruslan·5d

A null mutation in SERPINE1 protects against biological aging in humans | Science Advances science.org/doi/10.1126/sc…

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Daniel Calame, MD, PhD@DanielGCalame·5d

Sharing another rare disease Facebook group for families with #NEDSSBA / #NSRP1-related disorders: facebook.com/groups/6143241…

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Daniel Calame, MD, PhD@DanielGCalame·6d

If you or a family member has a #RAB1A-related disorder, consider joining a new Facebook group to connect with others: facebook.com/groups/8493464… #hereditaryspasticparaplegia #HSP @SpasticWorld

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Ichilov Genetics@IchilovG·25 Nis

Happy #DNAday everyone!

European Society of Human Genetics (ESHG)@eshgsociety

Today, we celebrate the genetic code that shapes life everyday. Curious to learn more? Explore the work of our 2025 DNA Day winners: dnaday.eu/resources-arch… Don’t forget to enter the 2026 competition! Deadline today, 25 April: dnaday.eu/instructions-e… #DNADay #eshg #genetic

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Vincent Rajkumar@VincentRK·25 Nis

As an Editor of a medical journal, this is concerning. We are already struggling. Can some AI person tell me how we detect this especially if the image is resaved on another program and loses any AI tags from chat GPT?

Mikael Elias@elias_mikael

⚠️All of the below images were FABRICATED by ChatGPT Images 2.0, each with a single prompt❗️ ⚠️

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Ichilov Genetics@IchilovG·25 Nis

Good morning! בוקר טוב!

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UCSC Genome Browser@GenomeBrowser·22 Nis

Check out our new NMD Escape tracks on hg38! They predict where premature stop codons escape nonsense-mediated decay. Useful for interpreting truncating variants under ACMG PVS1. Includes GENCODE+RefSeq rulesets + predictive scores. See our news for more: bit.ly/browserNMD

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