Lucia Guidugli

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

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

Novel association of Dandy–Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63363

N/A

0DataRank · unranked

11 citations

Lucia Guidugli, Monia Hammer, Chelsea Barrows, Anne Gregor, Sangmoon Lee +9 more

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

Novel variants inTECRLleading to catecholaminergic polymorphic ventricular tachycardia

Life Science Alliance(2024)10.26508/lsa.202402572

N/A

0DataRank · unranked

5 citations

J. Härtung, Elizabeth LaSalle, Alejandro Borquez, Viridiana Murillo, Lucia Guidugli +4 more