Author

Alina Kurolap

Tel Aviv Sourasky Medical CenterORCID 0000-0002-7005-3621Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 3

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Approach:statistical model· 2 Organism:Drosophila· 1 Organism:mouse· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Claudia G. Gonzaga-JaureguiiD· 2 shared Emma L. WakelingiD· 2 shared Hagit Baris FeldmaniD· 2 shared Alejandro D. IglesiasiD· 1 shared Alexis R. HeidlebaughiD· 1 shared Amanda GerardiD· 1 shared Amy Siemon· 1 shared Angad JollyiD· 1 shared

Activity by Year

2021-2023 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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Focal author (center)Selected co-authorORCID co-authorUnlinked name

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2 shared papersGenetic & Genomic Medicine

Claudia G. Gonzaga-JaureguiORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMar 1, 2023

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Daniel G. Calame, Tianyu Guo, Chen Wang…·James R. Lupski

The paper identifies monoallelic DHX9 variants as a cause of neurodevelopmental disorders and Charcot-Marie-Tooth disease, showing genotype-phenotype correlations and cellular dysfunction.

DOI 10.1101/2023.03.01.23286475

humanmouse

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Genetic & Genomic MedicinemedRxivPreprintMay 31, 2021

Genomic analyses in a large clinical cohort reveal high prevalence of MECP2 variants associated with neuropsychiatric phenotypes in adulthood

Claudia G. Gonzaga-Jauregui, Alina Kurolap, Lauren Walsh…·Christa Lese Martin

The paper was withdrawn due to lack of full author consent.

DOI 10.1101/2021.05.31.21257498

𝕏 PostBluesky

Genetic & Genomic MedicineScience AdvancesPeer-reviewedMay 12, 2021

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

Dong Li, Qin Wang, Naihua Natalie Gong…·Hakon H. Hakonarson

The paper identifies pathogenic variants in SMARCA5 as a cause of a neurodevelopmental syndrome with mild facial dysmorphia and developmental delay.

30 citations

humanDrosophila

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