🏆 Finalist — NIH Data Sharing Index (“S-Index”) Challenge

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Ortal Barel

Ortal Barel

Sheba Medical Center

ORCID: 0000-0003-1168-9758

Also affiliated with Cancer Genomics Centre

Biochemistry, Genetics and Molecular BiologyImmunology and Microbiology

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

2in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 2 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

Papers

Driven by 11 papers. Top paper: “Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy”.

Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

Journal of Clinical Investigation(2021)10.1172/jci138267

N/A

0.756DataRank · unranked

153 citations

Natalia L. Sheremet, Claudia B. Catarino, Natalia A. Andreeva, Zahra Assouline, Piero Barboni +49 more

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.03.002

N/A

0.568DataRank · unranked

43 citations

Gregory Costain, Laura E.R. Blok, Michael Silk, Thanh Nguyen, Xiaomin Dong +95 more

Whole exome sequencing (WES) approach for diagnosing primary immunodeficiencies (PIDs) in a highly consanguineous community

Clinical Immunology(2020)10.1016/j.clim.2020.108376

N/A

0.546DataRank · unranked

37 citations

Adi Cohen Golan, Atar Lev, Tali Stauber, Ortal Barel, Ido Somekh +9 more

Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects

The Journal of Experimental Medicine(2020)10.1084/jem.20201062

N/A

0.533DataRank · unranked

34 citations

Yu Nee Lee, Guangping Sun, Enas Hallumi, Amos J. Simon, Keren S. Zrihen +21 more

Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

Genetics in Medicine(2024)10.1016/j.gim.2024.101218

N/A

0.241DataRank · unranked

4 citations

Kristy Jay, Alden Huang, Jijun Wan, Sharayu Jangam, Odelia Chorin +95 more

Loss of function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.02.06.578086

N/A

0.165DataRank · unranked

2 citations

Kristy Jay, Alden Y. Huang, Jijun Wan, Sharayu Jangam, Odelia Chorin +23 more

RELA Haploinsufficiency Manifesting as an Atypical Phenotype of Crohn’s Disease

Inflammatory Bowel Diseases(2025)10.1093/ibd/izaf159

N/A

0.104DataRank · unranked

1 citations

Liran Baram, Arne Gehlhaar, Weihong Gu, Siqi Guo, Eduardo Gonzalez Santiago +7 more

Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities

Genetics in Medicine(2022)10.1016/j.gim.2022.07.019

N/A

0DataRank · unranked

12 citations

Rim Hjeij, Asaf Vivante, Elizabeth A. Bearce, Laura A. Dyer, Jiaolong Wang +24 more

Detection of the Heterozygous Recurrent MAX p.( Arg60Gln ) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Clinical Genetics(2025)10.1111/cge.70101

N/A

0DataRank · unranked

0 citations

Neta Feinstein‐Goren, Lior Greenbaum, Ortal Barel, Daniel C. Koboldt, Samantha A. Brugmann +5 more

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

Neurology(2022)10.1212/wnl.0000000000200660

N/A

0DataRank · unranked

21 citations

Simone Seiffert, Manuela Pendziwiat, Annika Rademacher, Tobias Brünger, Ulrike B. S. Hedrich +43 more

Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene

Human Genetics(2022)10.1007/s00439-022-02444-x

N/A

0DataRank · unranked

26 citations

Cindy Penney, Darren D. O’Rielly, Anne Griffin, Lara Kamal, Zippora Brownstein +23 more