Eric Olinger

176 posts

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Eric Olinger

Eric Olinger

@ericolinger1

MD, PhD. Interested in all things genetics and genomics

Katılım Eylül 2019
399 Takip Edilen190 Takipçiler
Eric Olinger retweetledi
Emilie Cornec-Le Gall
Emilie Cornec-Le Gall@ecorneclegall·
🚨 Dear all, do not miss this new KDIGO webinar series on NephroGenetics 🧬 ! Please do not hesitate to share, including amongst our younger colleagues @ERAkidney @com_SFNDT @FiliereORKiD @CJNephro @ynptweets @SNINephrologie
KDIGO@goKDIGO

Join us for "Hiding in Plain Sight: The Utility of Genetic Testing in Common Forms of CKD," the next module in KDIGO's new webinar series on implementing genetic testing for CKD. Wednesday, December 4, at 3:00 PM EST. Register: kdigo.co/Module-2-Genet… In this CME webinar, Professors Andrew Mallett, Emilie Cornec-Le Gall, Judy Savige, and Katalin Susztac will discuss the utility of genetic testing in common forms of CKD. The webinar will also examine the role of genetic testing in diagnosing cystic kidney disease, glomerular disease, and APOL1 kidney disease. Learn more: kdigo.co/Genetic-Testin…

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Christel Depienne
Christel Depienne@ChristelDepienn·
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/10.110…
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ERA - European Renal Association
ERA - European Renal Association@ERAkidney·
🌟 Highlights from Basics of Genetics for Nephrologists #ERA24 1️⃣ Will the genetic test substitute the kidney biopsy? That is already a reality for some conditions! @MuellerRom 2️⃣ The rising role of whole-genome sequencing in the kidney disease context! @ericolinger1 3️⃣4️⃣ Today’s and tomorrow’s benefits of genomics in the transplant clinic! @ADoreille Post by @ALuisaDCorreia
ERA - European Renal Association tweet mediaERA - European Renal Association tweet mediaERA - European Renal Association tweet mediaERA - European Renal Association tweet media
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Nicky Whiffin
Nicky Whiffin@nickywhiffin·
Would you believe me if I told you that a single variant in a non-coding RNA explains ~0.5% of all undiagnosed individuals with neurodevelopmental disorders (NDD) in @GenomicsEngland ??? I didn’t initially either, but here is the story of RNU4-2 🧵1/9
Yuyang Chen@quenchentin

Thrilled to share our latest discovery on a spliceosomal snRNA gene causing neurodevelopmental disorders: medrxiv.org/content/10.110… Thank you to everyone who contributed; it’s been a phenomenal effort to collaborate with clinicians and researchers for what would help many families!

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Eric Olinger
Eric Olinger@ericolinger1·
With a novel CNV analysis pipeline, we screened Genome Sequencing data of >10,000 parent-child trios for human "knock-out" loci: NPHP1 is the most commonly identified KO gene and SLC66A1 is a novel locus for autosomal recessive retinopathy! gimopen.org/article/S2949-…
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Daniel G. Fuster
Daniel G. Fuster@Dan_Fuster·
Just out - the spectrum of genetic disease in unselected adult kidney stone formers. Prevalence and characteristics of genetic disease in adult kidney stone formers academic.oup.com/ndt/article/do…
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Keşfet

@johnasayer @bet_ars @torra_roser @AurelieHummel @bertperso @ecorneclegall @ERAkidney @com_SFNDT