Thomas Defay

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 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 6 papers. Top paper: “A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders”.

A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders

Human Genetics and Genomics Advances(2021)10.1016/j.xhgg.2021.100035

N/A

0DataRank · unranked

10 citations

Casie A. Genetti, Asli Aykanat, Catherine A. Brownstein, Klaus Schmitz‐Abe, Morgan Danowski +17 more

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.08.003

N/A

0DataRank · unranked

171 citations

Laurie D. Smith, Chris M. Kunard, Matthew Bainbridge, Sergey Batalov, Wendy Benson +46 more

Scaling genetic resources: New paradigms for diagnosis and treatment of rare genetic disease

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2022)10.1002/ajmg.c.32016

N/A

0DataRank · unranked

9 citations

Thomas Defay, Aaron J. Goldenberg, Amy Gaviglio, Jerry Vockley

Response to Grosse et al.

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.05.004

N/A

0DataRank · unranked

1 citations

Laurie D. Smith, Chris M. Kunard, Matthew Bainbridge, Serge Batalov, Wendy Benson +46 more

Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.10.020

N/A

0DataRank · unranked

13 citations

Meredith S. Wright, L. Olsen, Brandan Schultz, Liana Protopsaltis, Dan Averbuj +30 more

Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.10.021

N/A

0DataRank · unranked

11 citations

Meredith S. Wright, Laurie D. Smith, Yupu Liang, William R. Mowrey, Liana Protopsaltis +40 more