Loreto Martorell

NeuroscienceBiochemistry, 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 4 papers. Top paper: “De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity”.

De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.08.015

N/A

0DataRank · unranked

43 citations

Tonya Moss, Hannah W. Moore, Koenraad Devriendt, Heather Flanagan‐Steet, Melanie May +15 more

Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6

UNC Libraries(2020)10.17615/w1jf-hz72

N/A

0DataRank · unranked

0 citations

Wendy E. Smith, Lourdes Loidi, Ludovic Martin, Yvonne Nitschke, Marcel du Moulin +26 more

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Human Mutation(2022)10.1002/humu.24371

N/A

0DataRank · unranked

20 citations

Britta Baumann, Peggy Reuter, Sten Andréasson, Isabelle Audo, Carmen Ayuso +46 more

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

Acta Neuropathologica(2023)10.1007/s00401-023-02551-7

N/A

0DataRank · unranked

12 citations

Christine C. Bruels, Sandra Donkervoort, A. Reghan Foley, Anna Codina, José C. Milisenda +29 more