Paula Fernández‐Álvarez

Also affiliated with Vall d'Hebron Hospital Universitari

MedicineBiochemistry, 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 3 papers. Top paper: “CERT1 mutations perturb human development by disrupting sphingolipid homeostasis”.

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Journal of Clinical Investigation(2023)10.1172/jci165019

N/A

0.568DataRank · unranked

43 citations

Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi +80 more

TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci

Human Molecular Genetics(2020)10.1093/hmg/ddaa120

N/A

0DataRank · unranked

22 citations

Ravikumar Balasubramanian, Zachary A Kupchinsky, David L. Keefe, Lacey Plummer, Kamal Khan +19 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