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

Orly Elpeleg

ORCID: 0000-0002-5041-7272
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 7 papers. Top paper: “Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy”.

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy

Journal of Clinical Investigation(2021)10.1172/jci142148
N/A
1.2DataRank · unranked
27 citations

Alex V. Postma, Christian Salazar, Daniel M. De Laughter, Fleur V.Y. Tjong, Lenka Piherová +51 more

Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies

Human Molecular Genetics(2020)10.1093/hmg/ddaa073
N/A
0DataRank · unranked
19 citations

John N. Griffin, Thomas Arbogast, Tanner O. Monroe, Flavia Palombo, Marcella Martinelli +5 more

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Genome Medicine(2021)10.1186/s13073-021-00870-6
N/A
0DataRank · unranked
117 citations

Tianyun Wang, Kendra Hoekzema, Jill A. Rosenfeld, Pengfei Liu, Hui Guo +95 more

CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module

Nature Communications(2020)10.1038/s41467-020-19113-0
N/A
0DataRank · unranked
99 citations

Katsutoshi Mizuno, Tabea Nöthe-Menchen, Yayoi Ikawa, Karsten Boldt, Asaf Ta‐Shma +46 more

Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation

Journal of Biological Chemistry(2023)10.1016/j.jbc.2023.105012
N/A
0DataRank · unranked
17 citations

Anika L. Burrell, Michael Zech, Orly Elpeleg, Tamar Harel, Simon Edvardson +6 more

Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.03.15.532669
N/A
0DataRank · unranked
4 citations

Anika L. Burrell, Michael Zech, Orly Elpeleg, Tamar Harel, Simon Edvardson +6 more

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder

Genetics in Medicine(2024)10.1016/j.gim.2024.101278
N/A
0DataRank · unranked
8 citations

Reza Maroofian, Stuart J Cannon, Muhannad Daana, Mina Zamani, Shamsul Ghani +55 more