Ana Berta Sousa

Administração Regional de Saúde de Lisboa e Vale do Tejo

Also affiliated with Hospital de Santa Maria

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 3 papers. Top paper: “Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation”.

Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.05.010

N/A

0.785DataRank · unranked

21 citations

Andrew C. Edmondson, Sandrine Duvet, Michael March, Ana Berta Sousa, Anna Lehman +23 more

Face-sparing Congenital Generalized Lipodystrophy Type 1 Associated With Nonclassical Congenital Adrenal Hyperplasia

The Journal of Clinical Endocrinology & Metabolism(2022)10.1210/clinem/dgac406

N/A

0DataRank · unranked

7 citations

Lurdes Sampaio, Ana Berta Sousa, Chao Xing, Anil K. Agarwal, Abhimanyu Garg +1 more

Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.07.020

N/A

0DataRank · unranked

7 citations

Pooja Biswas, Anne-Marie Berry, Riccardo Sangermano, Mukhtar Ullah, Siying Lin +40 more