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

Christelle Moufawad El Achkar

Boston Children's Hospital

ORCID: 0000-0003-0497-8172

Also affiliated with Harvard University, Boston Children's Museum

Biochemistry, Genetics and Molecular BiologyMedicine

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 2%percentile
2.3Author DataRank

Indexed papers

1in 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 1 indexed paper 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 →

Top data-sharing exemplar

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Assessing the landscape of STXBP1-related disorders in 534 individuals

Brain(2021)10.1093/brain/awab327
Top 9%
2.3DataRank
Top 9%125 citations

Shridhar Parthasarathy, Sarah M. Ruggiero, Ganna Balagura, Eryn Fitch, Katherine L. Helbig +48 more

Papers

Driven by 8 papers — median percentile 91. Top paper: “A framework for individualized splice-switching oligonucleotide therapy”.

A framework for individualized splice-switching oligonucleotide therapy

Nature(2023)10.1038/s41586-023-06277-0
N/A
5.0DataRank · unranked
158 citations

Sijae Woo, Claudio M. de Gusmão, Boxun Zhao, Diana Chin, Renata L. DiDonato +24 more

Assessing the landscape of STXBP1-related disorders in 534 individuals

Brain(2021)10.1093/brain/awab327
Top 9%
2.3DataRank
Top 9%125 citations

Shridhar Parthasarathy, Sarah M. Ruggiero, Ganna Balagura, Eryn Fitch, Katherine L. Helbig +48 more

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.01.008
N/A
1.2DataRank · unranked
27 citations

Amar J. Majmundar, Kamal Khan, Tze Yin Lim, Shirlee Shril, Gina Jin +62 more

Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy

Annals of Neurology(2021)10.1002/ana.26147
N/A
0.442DataRank · unranked
18 citations

Kyle R. Christensen, Emily Bryant, Amy Schneider, Jennifer Rakotomamonjy, Alison M. Muir +32 more

Cerebral Palsy Phenotypes in Genetic Epilepsies

Pediatric Neurology(2024)10.1016/j.pediatrneurol.2024.05.016
N/A
0DataRank · unranked
1 citations

Hyun Yong Koh, Lacey Smith, Annapurna Poduri, Christelle Moufawad El Achkar, Ann Bergin +13 more

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Journal of Medical Genetics(2021)10.1136/jmedgenet-2021-107751
N/A
0DataRank · unranked
30 citations

Margot A. Cousin, Nikita R. Dsouza, Thomas D. Challman, Karen E. Wain, Zöe Powis +67 more

Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABAA receptor α2 subunit

Molecular Psychiatry(2022)10.1038/s41380-022-01468-z
N/A
0DataRank · unranked
19 citations

April Contreras, Betsua Garcia, Jeffrey S. Barker, Austin J. Boren, Christelle Moufawad El Achkar +3 more

Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62940
N/A
0DataRank · unranked
5 citations

Isabel Haviland, Yoel Gofin, Lindsay C. Swanson, Christelle Moufawad El Achkar, John M. Schreiber +21 more