Miguel de la Hoya

Instituto de Investigación Sanitaria del Hospital Clínico San Carlos

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

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 26 papers. Top paper: “Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers”.

Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

Communications Biology(2022)10.1038/s42003-022-03978-6

N/A

0.607DataRank · unranked

15 citations

John F. Pearson, Louise Marquart, Joe Dennis, George A. R. Wiggins, Daniel R. Barnes +95 more

Breast and Prostate Cancer Risks for MaleBRCA1andBRCA2Pathogenic Variant Carriers Using Polygenic Risk Scores

JNCI Journal of the National Cancer Institute(2021)10.1093/jnci/djab147

N/A

0.571DataRank · unranked

44 citations

Valentina Silvestri, Goska Leslie, Lesley McGuffog, Joe Dennis, Xin Yang +95 more

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.08.022

N/A

0.434DataRank · unranked

17 citations

Megan Holdren, Terra Brannan, Miguel de la Hoya, Amanda B. Spurdle, Sean V. Tavtigian +16 more

Saturation genome editing-based functional evaluation and clinical classification of BRCA2 single nucleotide variants

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.12.14.571597

N/A

0.269DataRank · unranked

5 citations

Chunling Hu, Jie Na, Steven N. Hart, Rohan Gnanaolivu, Mohamed Abozaid +18 more

Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants

Genetics in Medicine(2021)10.1016/j.gim.2021.08.016

N/A

0DataRank · unranked

30 citations

Christoph Engel, Miguel de la Hoya, Paolo Peterlongo, Drakoulis Yannoukakos, Luca Livraghi +56 more

First international workshop of the ATM and cancer risk group (4-5 December 2019)

Familial Cancer(2021)10.1007/s10689-021-00248-y

N/A

0DataRank · unranked

19 citations

Douglas F. Easton, Anne‐Laure Renault, Sean V. Tavtigian, Jonine L. Bernstein, Zsofia Kote‐Jarai +51 more

Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants

Human Mutation(2021)10.1002/humu.24276

N/A

0DataRank · unranked

12 citations

Ignacio Fernandez‐Garcia, Sylvie Mazoyer, Flávia Leme de Calais, Pietro Ameri, Sangeetha Vijayakumar +31 more

Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

Journal of Clinical Oncology(2022)10.1200/jco.21.02112

N/A

0DataRank · unranked

282 citations

Valentina Silvestri, Goska Leslie, Timothy R. Rebbeck, Susan L. Neuhausen, John L. Hopper +95 more

Polygenic risk modeling for prediction of epithelial ovarian cancer risk

European Journal of Human Genetics(2022)10.1038/s41431-021-00987-7

N/A

0DataRank · unranked

73 citations

Jonathan P. Tyrer, Daniel R. Barnes, Michelle R. Jones, Xin Yang, Katja K. H. Aben +90 more

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.002

N/A

0DataRank · unranked

315 citations

Miguel de la Hoya, George A. R. Wiggins, Amanda Lindy, Lisa M. Vincent, Michael T. Parsons +28 more

SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion

Bioinformatics(2023)10.1093/bioinformatics/btad179

N/A

0DataRank · unranked

26 citations

Aimee L. Davidson, Miguel de la Hoya, Michael T. Parsons, Dylan M. Glubb, Olga Kondrashova +2 more

Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

British Journal of Cancer(2023)10.1038/s41416-023-02263-5

N/A

0DataRank · unranked

19 citations

Susan J. Ramus, Melissa C. Southey, Nicola S. Meagher, Andreas Hadjisavvas, Esther M. John +87 more

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP

medRxiv(2023)10.1101/2023.02.24.23286431

N/A

0DataRank · unranked

17 citations

Miguel de la Hoya, George A. R. Wiggins, Amanda Lindy, Lisa M. Vincent, Michael T. Parsons +11 more

Saturation genome editing-based functional evaluation and clinical classification of BRCA2 single nucleotide variants

Research Square(2023)10.21203/rs.3.rs-3736200/v1

N/A

0DataRank · unranked

0 citations

Huaizhi Huang, Chunling Hu, Jie Na, Steven N. Hart, Rohan Gnanaolivu +18 more

Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk

medRxiv(2024)10.1101/2024.02.29.24303243

N/A

0DataRank · unranked

3 citations

Jonathan P. Tyrer, Joe Dennis, Goska Leslie, Manjeet K. Bolla, Michael Lush +95 more

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants

medRxiv(2024)10.1101/2024.05.28.24307502

N/A

0DataRank · unranked

2 citations

Megan Holdren, Terra Brannan, Miguel de la Hoya, Amanda B. Spurdle, Sean V. Tavtigian +16 more

Functional evaluation and clinical classification of BRCA2 variants

Nature(2025)10.1038/s41586-024-08388-8

N/A

0DataRank · unranked

55 citations

Chunling Hu, Jie Na, Steven N. Hart, Rohan Gnanaolivu, Mohamed Abozaid +39 more

ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2024.12.011

N/A

0DataRank · unranked

11 citations

Nitsan Rotenberg, Ada Esteban‐Sánchez, Cristina Fortuño, Alicia Gómez-Sanz, Matthew J. Varga +7 more

Integration of protein stability and AlphaMissense scores improves bioinformatic impact prediction for p53 missense and in-frame amino acid deletion variants

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.01.012

N/A

0DataRank · unranked

8 citations

Cristina Fortuño, Matthew J. Varga, Adam Chamberlin, Lobna Ramadane‐Morchadi, Bing Feng +4 more

A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome

Genome Medicine(2025)10.1186/s13073-025-01536-3

N/A

0DataRank · unranked

5 citations

Megan N. Frone, Jessica L. Mester, Miguel de la Hoya, Phuong L. Mai, Tina Pesaran +32 more

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.08.020

N/A

0DataRank · unranked

4 citations

Megan F.H. Bishop, Megan Holdren, Miguel de la Hoya, Amanda B. Spurdle, Sean V. Tavtigian +15 more

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

Nature Genetics(2020)10.1038/s41588-019-0537-1

N/A

0DataRank · unranked

189 citations

Laura Fachal, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators, ABCTB Investigators +95 more

Genome-wide association study of 398,238 women unveils seven loci associated with high-grade serous ovarian cancer

npj Genomic Medicine(2025)10.1038/s41525-025-00529-w

N/A

0DataRank · unranked

0 citations

Jonathan P. Tyrer, Joe Dennis, Goska Leslie, Manjeet K. Bolla, Michael Lush +95 more

Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D

JNCI Journal of the National Cancer Institute(2020)10.1093/jnci/djaa030

N/A

0DataRank · unranked

166 citations

Honglin Song, Goska Leslie, Christoph Engel, Eric Hahnen, Bernd Auber +56 more

Characterization of the Cancer Spectrum in Men With GermlineBRCA1andBRCA2Pathogenic Variants

JAMA Oncology(2020)10.1001/jamaoncol.2020.2134

N/A

0DataRank · unranked

67 citations

Goska Leslie, Daniel R. Barnes, and the CIMBA Group, Bjarni A. Agnarsson, Kristiina Aittomäki +95 more

Transcriptome‐wide association study of breast cancer risk by estrogen‐receptor status

Genetic Epidemiology(2020)10.1002/gepi.22288

N/A

0DataRank · unranked

45 citations

Alexander Gusev, Bogdan Paşaniuc, Lang Wu, Jirong Long, Zomoroda Abu-Full +95 more