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

Hagar Mor‐Shaked

Hebrew University of Jerusalem

ORCID: 0000-0001-6631-0376

Also affiliated with Hadassah Medical Center, Jerusalem University College, Gender Studies

Biochemistry, Genetics and Molecular Biology

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 10 papers. Top paper: “Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder”.

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2021.12.011
N/A
0.483DataRank · unranked
24 citations

Frédéric Ebstein, Alice Mollé, Thomas Besnard, Ming-Kang Lee, Virginie Vignard +53 more

A recurrent de novo variant in NUSAP1 escapes nonsense‐mediated decay and leads to microcephaly, epilepsy, and developmental delay

Clinical Genetics(2023)10.1111/cge.14335
N/A
0.396DataRank · unranked
13 citations

Emuna Paz‐Ebstein, Shira Yanovsky‐Dagan, Abbe Lai, Hagar Mor‐Shaked, Tal Gilboa +5 more

Mutations in MYLPF cause a novel segmental amyoplasia that manifests as distal arthrogryposis

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.05.06.071555
N/A
0DataRank · unranked
1 citations

Jared C. Talbot, Emily M. Teets, Samantha Beck Previs, Brit L. Martin, Kathryn M. Shively +26 more

Response to Hall et al.

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.006
N/A
0DataRank · unranked
0 citations

Jared C. Talbot, Emily M. Teets, Samantha Beck Previs, Brit L. Martin, Kathryn M. Shively +26 more

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability

Journal of Medical Genetics(2021)10.1136/jmedgenet-2020-107462
N/A
0DataRank · unranked
10 citations

Alistair T. Pagnamenta, Matteo P. Ferla, Jonathan Gadian, Brian Hon‐Yin Chung, Marcus C.Y. Chan +33 more

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

Genetics in Medicine(2024)10.1016/j.gim.2024.101251
N/A
0DataRank · unranked
4 citations

Tania Quirin, Clarissa Rocca, Stéphanie Efthymiou, Antonella Riva, Dana Marafi +95 more

USP27Xvariants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

Life Science Alliance(2024)10.26508/lsa.202302258
N/A
0DataRank · unranked
7 citations

Maya Slovik, Yuling Zhang, Bingyu Liu, Martin L. Rennie, Emily Konz +24 more

Benign SLC39A14 Course of Dystonia‐Parkinsonism Secondary to Inherited Manganese Accumulation

Movement Disorders Clinical Practice(2020)10.1002/mdc3.12947
N/A
0DataRank · unranked
11 citations

Max Bauer, Hagar Mor‐Shaked, Susan Bressman, Deborah Raymond, Laurie J. Ozelius +2 more

A founder variant in TBCB is associated with global developmental delay, autism spectrum, and spastic paraparesis

Genetics in Medicine(2025)10.1016/j.gim.2025.101569
N/A
0DataRank · unranked
0 citations

Chen Itzkovich, Alina Kurolap, Mordechai Shohat, Alexandra Dürr, Jean‐Madeleine de Sainte Agathe +15 more

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.06.014
N/A
0DataRank · unranked
34 citations

Jared C. Talbot, Emily M. Teets, Samantha Beck Previs, Brit L. Martin, Kathryn M. Shively +26 more