Tummala H
@hemanth_tummala
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Senior Lecturer in genetics 🧬 and molecular biology 🧪 of bone marrow failure syndromes 🩸
London, England
Joined April 2016
RT @hemanth_tummala: An excellent collaboration between @bloodgenes @SharonSavageMD labs & our lab reveal how common genetic variants sha….
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An excellent collaboration between @bloodgenes @SharonSavageMD labs & our lab reveal how common genetic variants shape disease outcomes in rare telomere biology disorders (e.g. DC). A powerful step toward unravelling phenotypic variability in monogenic disease.
Delighted to have our work on Polygenic Modifiers of #TelomereBiologyDisorders, led by @michaelpoeschla, along with @SashaGusevPosts, @mitchiela, @SharonSavageMD, @hemanth_tummala, and others, published as an advanced online paper in @jclinicalinvest today:
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RT @doctorveera: Beautiful work demonstrating how common variants modify the penetrance of rare variants in both children and adults with t….
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There is more to know about nucleotide salvage pathway in telomere length regulation. Excellent work coming from @Agarwal_Lab by @wmannherz
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RT @DC_Action: A great day at our first Telonet meeting. Thank you to everyone who is attending today. #telonet #DCAction .
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GATA1 therapy for Diamond-Blackfan anemia: Exciting breakthrough from @bloodgenes .Lab offering a targeted and perhaps could be lasting relief for DBA patients. Cell Stem Cell
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In a nutshell about telomere biology disorders led by @SharonSavageMD and @Alison A Bertuch with support from researchers @TeamTelomereInc and Us.
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Phenotypic variability in rare monogenic cases of telomere biology disorder with same genetic variant can be due to contribution of polygenic variation. Elegant study led by @bloodgenes @michaelpoeschla in collaboration with @SharonSavageMD and Us.
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Just out today we report a new X linked loci…and several novel variants in telomere biology disorder Dyskeratosis congenita. And an excellent commentary by Guillermo Guenechea and Nestor W Meza.
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RT @PradeepMadapura: Pleased to share our published work We show how PSIP1/LEDGF maintains genome stability by redu….
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RT @DC_Action: DC Action and The Gary Woodward Dyskeratosis Congenita Trust invite you to a virtual Q&A with Professor Inderjeet Dokal, an….
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RT @yungyaolin: Looking for high calibre candidates to conduct an exciting 4-year PhD project funded by @MRC_TU Integrative Toxicology Trai….
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RT @ScienceMagazine: In two independent Science studies, researchers used time-resolved crystallography at an x-ray free electron laser to….
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RT @doctorveera: Skin cancer rates are ~17-fold higher in the UK compared to Singapore despite that Singaporeans bathe in 2-3 fold more UV….
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RT @davidrliu: Three of the more costly and frequently used reagents in molecular biology are rolling circle amplification (RCA) mix, chemi….
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RT @SharonSavageMD: Thought the #telomere crowd would be interested in @HannahRaj_'s 1st publication, "The distribution and accumulation of….
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Fanzor is a eukaryotic programmable RNA-guided endonuclease | Nature
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RT @PradeepMadapura: Check out this brand new work on the role of #H4K16ac in activating transposable elements, and making them function as….
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RT @doctorveera: Thrilled to share our human genetics discovery of the protective association between rare variants in CHRNB2 (encoding a s….
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