Author

Dorit Lev

Tel Aviv UniversityORCID 0000-0001-6869-6727Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Approach:experimental assay· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Amal Abu RayyaniD· 1 shared Amihood Singer· 1 shared Amir PelegiD· 1 shared Amy SchneideriD· 1 shared Asgeir Orn ArnthorssoniD· 1 shared Bekim SadikovićiD· 1 shared Bella DavidoviD· 1 shared Cassandra RastiniD· 1 shared

Activity by Year

2020-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 21 mutual co-author links

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1 shared paperGenetics

Amal Abu RayyanORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineNature CommunicationsPeer-reviewedAug 6, 2024

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature

Christy W. LaFlamme, Cassandra Rastin, Soham Sengupta…·Heather C. Mefford

This study evaluates genome-wide DNA methylation analysis in genetically unsolved DEEs, identifying 10 causative or candidate genetic causes and refining a CHD2 episignature.

31 citationstop 1%

humanDNA methylation

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Genetic & Genomic MedicineHuman MutationPeer-reviewedSep 25, 2022

Juvenile Mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A

Elena Pavlova, Dorit Lev, Marina Michelson…·Timothy Martin Cox

The paper identifies a missense mutation in VPS33A causing an attenuated juvenile form of mucopolysaccharidosis plus and shows potential therapeutic interventions.

13 citations

humanexperimental assay

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GeneticsClinical GeneticsPeer-reviewedJul 20, 2020

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1

Zippora Brownstein, Süleyman Gülsüner, Tom Walsh…·Karen B. Avraham

The paper identifies genetic causes of inherited hearing loss in the Israeli Jewish population, finding a novel deafness gene ATOH1 and demonstrating the effectiveness of targeted genomic sequencing.

31 citations

humanwhole-exome sequencing

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