Jaime Vengoechea

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 6 papers. Top paper: “104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07)”.

104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07)

Journal of Neurology(2024)10.1007/s00415-024-12236-0

N/A

0.803DataRank · unranked

28 citations

Priya S. Kishnani, Drago Bratkovic, Barry J. Byrne, Kristl G. Claeys, Jordi Díaz‐Manera +79 more

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency

Blood(2020)10.1182/blood.2020006441

N/A

0DataRank · unranked

46 citations

M. Cecilia Poli, Jaime Vengoechea, Sonia Bonanomi, Julio César Orellana, Grazia Fazio +29 more

Variation in Age at Cancer Diagnosis in Familial versus Nonfamilial Barrett's Esophagus

UNC Libraries(2020)10.17615/pwtd-kb77

N/A

0DataRank · unranked

0 citations

Margaret Kinnard, Jaime Vengoechea, Robert C. Elston, Sumeet K. Mittal, Ganapathy A. Prasad +10 more

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder

Genetics in Medicine(2022)10.1016/j.gim.2022.08.020

N/A

0DataRank · unranked

10 citations

Irene Valenzuela, Andrea Accogli, Katleen Ballon, Bruria Ben‐Zeev, Samuel F. Berkovic +39 more

PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.05.016

N/A

0DataRank · unranked

10 citations

Cory Rosenfelt, Virginie Vignard, Jonas Johannes Papendorf, Sophie Möller, Martin Wendlandt +42 more

Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder

Human Genetics(2024)10.1007/s00439-024-02656-3

N/A

0DataRank · unranked

2 citations

Cara Skraban, Atsunori Yoshimura, Toyonori Sakata, Cesar Alves, Sarah K. Fiordaliso +16 more