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Elena Perenthaler · SciRah

Researcher profile · Semantic Scholar

Elena Perenthaler

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Elena Perenthaler — researcher profile on SciRah

h-index: 11
Works: 20
Citations: 980

Most-cited papers

Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells
T. S. Barakat, F. Halbritter, Man Zhang, André F. Rendeiro +3 more
2017bioRxiv208 citations Open access
Semantic Scholar
The Why of YY1: Mechanisms of Transcriptional Regulation by Yin Yang 1
Thijs C. J. Verheul, L. van Hijfte, Elena Perenthaler, T. S. Barakat
2020Frontiers in Cell and Developmental Biology162 citations Open access
Semantic Scholar
In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology
P. Bernabò, T. Tebaldi, E. Groen, Fiona M. Lane +11 more
2017Cell Reports110 citations Open access
Semantic Scholar
SMN-primed ribosomes modulate the translation of transcripts related to Spinal Muscular Atrophy
Fabio Lauria, P. Bernabò, T. Tebaldi, E. Groen +14 more
2019Nature Cell Biology84 citations Open access
Semantic Scholar
Active ribosome profiling with RiboLace
Massimiliano Clamer, T. Tebaldi, Fabio Lauria, P. Bernabò +12 more
2017bioRxiv77 citations Open access
Semantic Scholar
Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy
E. Groen, Elena Perenthaler, N. L. Courtney, Crispin Y. Jordan +6 more
2018Human Molecular Genetics68 citations Open access
Semantic Scholar
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases
Elena Perenthaler, A. Nikoncuk, S. Yousefi, W. Berdowski +65 more
2019bioRxiv65 citations Open access
Semantic Scholar
Beyond the Exome: The Non-coding Genome and Enhancers in Neurodevelopmental Disorders and Malformations of Cortical Development
Elena Perenthaler, S. Yousefi, Eva Niggl, T. S. Barakat
2019Frontiers in Cellular Neuroscience63 citations Open access
Semantic Scholar
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking
Leslie E. Sanderson, Kristina Lanko, M. Alsagob, Rawan Almass +52 more
2021Brain : a journal of neurology50 citations Open access
Semantic Scholar
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Scott Barish, T. S. Barakat, B. Michel, N. Mashtalir +49 more
2020American Journal of Human Genetics43 citations Open access
Semantic Scholar
Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance
S. Yousefi, Ruizhi Deng, Kristina Lanko, Eva Medico Salsench +6 more
2021Genome Medicine23 citations Open access
Semantic Scholar
The SMN-ribosome interplay: a new opportunity for Spinal Muscular Atrophy therapies
Gaurav Sharma, Martina Paganin, Fabio Lauria, Elena Perenthaler +1 more
2024Biochemical Society Transactions10 citations Open access
Semantic Scholar
Patient-specific responses to SMN2 splice-modifying treatments in spinal muscular atrophy fibroblasts
I. Signoria, M. M. Zwartkruis, Lotte Geerlofs, Elena Perenthaler +12 more
2024bioRxiv9 citations Open access
Semantic Scholar
Active Ribosome Proﬁling with RiboLace
Massimiliano Clamer, T. Tebaldi, Fabio Lauria, T. Gillingwater +12 more
6 citations
Semantic Scholar
Computational limitations and future needs to unravel the full potential of 2’-O-methylation and C/D box snoRNAs
Christian Ramirez, Elena Perenthaler, Fabio Lauria, T. Tebaldi +1 more
2025RNA Biology2 citations Open access
Semantic Scholar
In vivo translatome profiling reveals early defects in ribosome biology underlying SMA pathogenesis
P. Bernabò, T. Tebaldi, E. Groen, Fiona M. Lane +10 more
2017bioRxiv1 citations Open access
Semantic Scholar
Empowering multiplexed ultra-throughout ribosome profiling with RiboWich
Ilaria Bruno, Cecilia Perrucci, Gabriele Tomè, Giorgia Susin +9 more
2025bioRxiv0 citations
Semantic Scholar
An Unorthodox Disease Mechanism
T. S. Barakat, K. Awartani, Salem Alwadaee, Muddathir H. A. Hamad +65 more
20190 citations
Semantic Scholar
Resource Active Ribosome Profiling with RiboLace Graphical Abstract Highlights
MassimilianoClamer, TomaTebaldi, Fabio Lauria, P. Bernabò +12 more
20180 citations
Semantic Scholar
Edinburgh Research Explorer Active ribosome profiling with RiboLace
Massimiliano Clamer, T. Tebaldi, Fabio Lauria, T. Gillingwater +12 more
0 citations
Semantic Scholar

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