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

Lauren O’Grady

Boston Children's Hospital

ORCID: 0000-0001-6721-4191

Also affiliated with Massachusetts General 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: “Clinical, neuroimaging and molecular spectrum of TECPR2 -associated hereditary sensory and autonomic neuropathy with intellectual disability”.

Clinical, neuroimaging and molecular spectrum of TECPR2 -associated hereditary sensory and autonomic neuropathy with intellectual disability

medRxiv(2020)10.1101/2020.10.10.20202622
N/A
0DataRank · unranked
0 citations

Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O’Grady +45 more

Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability

Human Mutation(2021)10.1002/humu.24206
N/A
0DataRank · unranked
31 citations

Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O’Grady +45 more

Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.11.007
N/A
0DataRank · unranked
37 citations

María J. Guillen Sacoto, Francisca Millan, Zhancheng Zhang, Stephen McGee, Matthew T. Oetjens +11 more

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.02.007
N/A
0DataRank · unranked
10 citations

Alice M. Tao, Shenzhao Lu, Mengqi Ma, Shabab B. Hannan, Rachel Slaugh +43 more

Long‐Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63940
N/A
0DataRank · unranked
3 citations

Emilie S. Zoltick, Hana Zouk, Wei He, Emma Perez, L. Clarke +8 more

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.03.018
N/A
0DataRank · unranked
6 citations

Laura Harrold, Daniel G. Calame, Claire Salter, Takashi Kikuma, Kevin P. Guay +49 more