Alexandra Martins

Also affiliated with Hospital Beatriz Ângelo

Biochemistry, 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

2in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 2 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

Papers

Driven by 7 papers. Top paper: “The BRCA1 c.5434C→G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements”.

The BRCA1 c.5434C→G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements

Journal of Medical Genetics(2010)10.1136/jmg.2009.074047

N/A

2.5DataRank · unranked

45 citations

Sophie Krieger, Jean-Christophe Théry, Audrey Killian, Antoine Rousselin, Pascaline Berthet +5 more

Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel

Genetics in Medicine(2023)10.1016/j.gim.2023.100992

N/A

1.0DataRank · unranked

33 citations

Xiaoyu Yin, Marcy E. Richardson, Marta Pineda, Andreas Laner, Deborah Ritter +27 more

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.07.013

N/A

0.689DataRank · unranked

98 citations

Miguel de la Hoya, Marcy E. Richardson, Emma Tudini, Michael Anderson, Windy Berkofsky-Fessler +38 more

Calibration of Pathogenicity Due to Variant-Induced Leaky Splicing Defects by Using BRCA2 Exon 3 as a Model System

Cancer Research(2020)10.1158/0008-5472.can-20-0895

N/A

0.515DataRank · unranked

30 citations

Sandrine M. Caputo, Teresa Sullivan, Julie Rondeaux, Sophie Krieger, Virginie Caux‐Moncoutier +33 more

Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.09.002

N/A

0DataRank · unranked

15 citations

Marcy E. Richardson, Andreas Laner, Xuemei Shi, Elisabet Ognedal, Valeria Vasta +27 more

Predicting the impact of rare variants on RNA splicing in CAGI6

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.06.20.545093

N/A

0DataRank · unranked

0 citations

Carolina Jaramillo Oquendo, Htoo A. Wai, Andrew G. L. Douglas, David J. Bunyan, Yaqiong Wang +22 more

Predicting the impact of rare variants on RNA splicing in CAGI6

Human Genetics(2024)10.1007/s00439-023-02624-3

N/A

0DataRank · unranked

13 citations

Carolina Jaramillo Oquendo, Htoo A. Wai, Andrew G. L. Douglas, David J. Bunyan, Yaqiong Wang +22 more