Concepedia

Author

Elena Perenthaler

Erasmus MCORCID

Also Known As

E Perenthaler, Elena Perenthaler, Perenthaler, Elena

40

Publications

1.1K

Citations

11

H-Index

13

Concepts

All Affiliations

Erasmus MCUniversity of EdinburghUniversity College LondonUniversity of TrentoKing Faisal Specialist Hospital & Research Centre
EP

About

Elena Perenthaler is an author at Erasmus MC specializing in medicine, model organisms, and bioinformatics.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

2

2

145

2

Natural Sciences

1

1

97

3

Cell Biology

1

1

97

4

Molecular Biology

1

1

97

5

Molecular Genetics

1

1

48

Elena Perenthaler

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9

Publications

823

Citations

9

H-Index

YearCitations

Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells

Tahsin Stefan Barakat, Florian Halbritter, Man Zhang,

Cell stem cell

2018

221

In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology

Paola Bernabò, Toma Tebaldi, Ewout J. N. Groen,

Cell Reports

2017

112

SMN-primed ribosomes modulate the translation of transcripts related to spinal muscular atrophy

Fabio Lauria, Paola Bernabò, Toma Tebaldi,

Nature Cell Biology

2020

97

Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy

Ewout J. N. Groen, Elena Perenthaler, Natalie L. Courtney,

Human Molecular Genetics

2018

80

Active Ribosome Profiling with RiboLace

Massimiliano Clamer, Toma Tebaldi, Fabio Lauria,

Cell Reports

2018

78

Beyond the Exome: The Non-coding Genome and Enhancers in Neurodevelopmental Disorders and Malformations of Cortical Development

Elena Perenthaler, Soheil Yousefi, Eva Niggl,

Frontiers in Cellular Neuroscience

2019

69

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, Anita Nikoncuk, Soheil Yousefi,

Acta Neuropathologica

2019

68

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

Leslie E. Sanderson, Kristina Lanko, Maysoon Alsagob,

Brain

2021

50

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

Scott Barish, Tahsin Stefan Barakat, Brittany C. Michel,

The American Journal of Human Genetics

2020

48

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