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

Yoel Hirsch

Genetic Resources Center

ORCID: 0000-0002-1218-1385

Also affiliated with Jewish Hospital

Biochemistry, Genetics and Molecular BiologyNeuroscience

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

0in pilot corpus
datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 6 papers. Top paper: “Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities”.

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.03.009
N/A
0.515DataRank · unranked
30 citations

Jennifer L. Cohen, Sarah E. Sheppard, Pavithran Guttipatti, Tsz Y. Lo, Natalie Weed +14 more

Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss

International Journal of Molecular Sciences(2023)10.3390/ijms24108897
N/A
0.104DataRank · unranked
1 citations

Wendy K. Chung, Sergey S. Novoselov, Louis H. Weimer, Alexander M. Rossor, Charles A. LeDuc +9 more

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

European Journal of Human Genetics(2021)10.1038/s41431-020-00790-w
N/A
0DataRank · unranked
17 citations

Chayada Tangshewinsirikul, Kevin T. Booth, Héla Azaiez, Devorah Yefet, Adina Quint +23 more

Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy

Pediatric Neurology(2021)10.1016/j.pediatrneurol.2021.04.014
N/A
0DataRank · unranked
10 citations

Ayelet Zerem, Akshata Almad, Julia Hacker, Sarah Woidill, Sunetra Sase +15 more

Genotype-phenotype correlation analysis and therapeutic development using a patient stem cell-derived disease model of Wolfram syndrome

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.11.07.467657
N/A
0DataRank · unranked
0 citations

Kristina G. Maxwell, Wenjuan Ye, Kelly Kries, Cris Brown, Punn Augsornworawat +12 more

Multidimensional analysis and therapeutic development using patient iPSC–derived disease models of Wolfram syndrome

JCI Insight(2022)10.1172/jci.insight.156549
N/A
0DataRank · unranked
30 citations

Kristina G. Maxwell, Wenjuan Ye, Kelly Kries, Cris Brown, Punn Augsornworawat +12 more