
OpenAlex is a bibliographic catalogue of scientific papers, authors and institutions accessible in open access mode, named after the Library of Alexandria. It's citation coverage is excellent and I hope you will find utility in this listing of citing articles!
If you click the article title, you'll navigate to the article, as listed in CrossRef. If you click the Open Access links, you'll navigate to the "best Open Access location". Clicking the citation count will open this listing for that article. Lastly at the bottom of the page, you'll find basic pagination options.
Requested Article:
CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations
Shuang� Li, K. Joeri van der Velde, Dick de Ridder, et al.
Genome Medicine (2020) Vol. 12, Iss. 1
Open Access | Times Cited: 48
Shuang� Li, K. Joeri van der Velde, Dick de Ridder, et al.
Genome Medicine (2020) Vol. 12, Iss. 1
Open Access | Times Cited: 48
Showing 1-25 of 48 citing articles:
Ensembl 2023
Fergal J. Martin, M Ridwan Amode, Alisha Aneja, et al.
Nucleic Acids Research (2022) Vol. 51, Iss. D1, pp. D933-D941
Open Access | Times Cited: 730
Fergal J. Martin, M Ridwan Amode, Alisha Aneja, et al.
Nucleic Acids Research (2022) Vol. 51, Iss. D1, pp. D933-D941
Open Access | Times Cited: 730
Enhancers in disease: molecular basis and emerging treatment strategies
Annique Claringbould, Judith B. Zaugg
Trends in Molecular Medicine (2021) Vol. 27, Iss. 11, pp. 1060-1073
Open Access | Times Cited: 147
Annique Claringbould, Judith B. Zaugg
Trends in Molecular Medicine (2021) Vol. 27, Iss. 11, pp. 1060-1073
Open Access | Times Cited: 147
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers, et al.
European Journal of Human Genetics (2021) Vol. 29, Iss. 9, pp. 1325-1331
Open Access | Times Cited: 82
Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers, et al.
European Journal of Human Genetics (2021) Vol. 29, Iss. 9, pp. 1325-1331
Open Access | Times Cited: 82
Genome interpretation using in silico predictors of variant impact
Panagiotis Katsonis, Kevin Wilhelm, Amanda M. Williams, et al.
Human Genetics (2022) Vol. 141, Iss. 10, pp. 1549-1577
Open Access | Times Cited: 54
Panagiotis Katsonis, Kevin Wilhelm, Amanda M. Williams, et al.
Human Genetics (2022) Vol. 141, Iss. 10, pp. 1549-1577
Open Access | Times Cited: 54
Emerging applications of machine learning in genomic medicine and healthcare
Narjice Chafai, L. Bonizzi, Sara Botti, et al.
Critical Reviews in Clinical Laboratory Sciences (2023) Vol. 61, Iss. 2, pp. 140-163
Closed Access | Times Cited: 38
Narjice Chafai, L. Bonizzi, Sara Botti, et al.
Critical Reviews in Clinical Laboratory Sciences (2023) Vol. 61, Iss. 2, pp. 140-163
Closed Access | Times Cited: 38
Variant effect predictor correlation with functional assays is reflective of clinical classification performance
Benjamin Livesey, Joseph A. Marsh
bioRxiv (Cold Spring Harbor Laboratory) (2024)
Open Access | Times Cited: 9
Benjamin Livesey, Joseph A. Marsh
bioRxiv (Cold Spring Harbor Laboratory) (2024)
Open Access | Times Cited: 9
Computational approaches for predicting variant impact: An overview from resources, principles to applications
Ye Liu, William S.B. Yeung, Philip C.N. Chiu, et al.
Frontiers in Genetics (2022) Vol. 13
Open Access | Times Cited: 32
Ye Liu, William S.B. Yeung, Philip C.N. Chiu, et al.
Frontiers in Genetics (2022) Vol. 13
Open Access | Times Cited: 32
Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels
Stuart Cannon, M. Williams, Adam C. Gunning, et al.
BMC Medical Genomics (2023) Vol. 16, Iss. 1
Open Access | Times Cited: 11
Stuart Cannon, M. Williams, Adam C. Gunning, et al.
BMC Medical Genomics (2023) Vol. 16, Iss. 1
Open Access | Times Cited: 11
VPatho: a deep learning-based two-stage approach for accurate prediction of gain-of-function and loss-of-function variants
Fang Ge, Chen Li, Shahid Iqbal, et al.
Briefings in Bioinformatics (2022) Vol. 24, Iss. 1
Open Access | Times Cited: 17
Fang Ge, Chen Li, Shahid Iqbal, et al.
Briefings in Bioinformatics (2022) Vol. 24, Iss. 1
Open Access | Times Cited: 17
Professional Perspectives Towards Implementing Artificial Intelligence in Next Generation Sequencing–Based Newborn Screening: A Q Methodology Study
Sara Soriano Longarón, Lennart Johansson, Imke Christiaans, et al.
Health Policy and Technology (2025), pp. 100982-100982
Open Access
Sara Soriano Longarón, Lennart Johansson, Imke Christiaans, et al.
Health Policy and Technology (2025), pp. 100982-100982
Open Access
A graph neural network approach for accurate prediction of pathogenicity in multi-type variants
Hongtao Yu, Guojing He, Wei Wang, et al.
Briefings in Bioinformatics (2025) Vol. 26, Iss. 2
Open Access
Hongtao Yu, Guojing He, Wei Wang, et al.
Briefings in Bioinformatics (2025) Vol. 26, Iss. 2
Open Access
Variant effect predictor correlation with functional assays is reflective of clinical classification performance
Benjamin Livesey, Joseph A. Marsh
Genome biology (2025) Vol. 26, Iss. 1
Open Access
Benjamin Livesey, Joseph A. Marsh
Genome biology (2025) Vol. 26, Iss. 1
Open Access
KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease
Floranne Boulogne, Laura R. Claus, Henry H. Wiersma, et al.
European Journal of Human Genetics (2023) Vol. 31, Iss. 11, pp. 1300-1308
Open Access | Times Cited: 9
Floranne Boulogne, Laura R. Claus, Henry H. Wiersma, et al.
European Journal of Human Genetics (2023) Vol. 31, Iss. 11, pp. 1300-1308
Open Access | Times Cited: 9
PdmIRD: missense variants pathogenicity prediction for inherited retinal diseases in a disease-specific manner
Bing Zeng, Dong Cheng Liu, Jian Guo Huang, et al.
Human Genetics (2024) Vol. 143, Iss. 3, pp. 331-342
Closed Access | Times Cited: 3
Bing Zeng, Dong Cheng Liu, Jian Guo Huang, et al.
Human Genetics (2024) Vol. 143, Iss. 3, pp. 331-342
Closed Access | Times Cited: 3
MOLGENIS VIP: an open-source and modular pipeline for high-throughput and integrated DNA variant analysis
W Maassen, Lennart Johansson, Bart Charbon, et al.
medRxiv (Cold Spring Harbor Laboratory) (2024)
Open Access | Times Cited: 3
W Maassen, Lennart Johansson, Bart Charbon, et al.
medRxiv (Cold Spring Harbor Laboratory) (2024)
Open Access | Times Cited: 3
Leveraging protein language models and scoring function for Indel characterisation and transfer learning
Oriol Gracia Carmona, Vilde Leipart, Gro V. Amdam, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2025)
Open Access
Oriol Gracia Carmona, Vilde Leipart, Gro V. Amdam, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2025)
Open Access
An exploratory study combining Virtual Reality and Semantic Web for life science research using Graph2VR
Alexander Kellmann, Sander van den Hoek, Max Postema, et al.
Database (2025) Vol. 2025
Open Access
Alexander Kellmann, Sander van den Hoek, Max Postema, et al.
Database (2025) Vol. 2025
Open Access
Identification of plasmids by PCR based replicon typing in bacteremic Klebsiella pneumoniae
Chaitra Shankar, Dhiviya Prabaa Muthuirulandi Sethuvel, Ayyan Raj Neeravi, et al.
Microbial Pathogenesis (2020) Vol. 148, pp. 104429-104429
Closed Access | Times Cited: 19
Chaitra Shankar, Dhiviya Prabaa Muthuirulandi Sethuvel, Ayyan Raj Neeravi, et al.
Microbial Pathogenesis (2020) Vol. 148, pp. 104429-104429
Closed Access | Times Cited: 19
VarCards2: an integrated genetic and clinical database for ACMG-AMP variant-interpretation guidelines in the human whole genome
Zheng Wang, Guihu Zhao, Zhaopo Zhu, et al.
Nucleic Acids Research (2023) Vol. 52, Iss. D1, pp. D1478-D1489
Open Access | Times Cited: 7
Zheng Wang, Guihu Zhao, Zhaopo Zhu, et al.
Nucleic Acids Research (2023) Vol. 52, Iss. D1, pp. D1478-D1489
Open Access | Times Cited: 7
Computational prediction of human deep intronic variation
Pedro Barbosa, Rosina Savisaar, Maria Carmo‐Fonseca, et al.
GigaScience (2022) Vol. 12
Open Access | Times Cited: 11
Pedro Barbosa, Rosina Savisaar, Maria Carmo‐Fonseca, et al.
GigaScience (2022) Vol. 12
Open Access | Times Cited: 11
Assessment of variant effect predictors unveils variants difficulty as a critical performance indicator
Ragousandirane Radjasandirane, Julien Diharce, Jean‐Christophe Gelly, et al.
(2024)
Closed Access | Times Cited: 2
Ragousandirane Radjasandirane, Julien Diharce, Jean‐Christophe Gelly, et al.
(2024)
Closed Access | Times Cited: 2
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants
Pedro Barbosa, Marta Ribeiro, Maria Carmo‐Fonseca, et al.
Frontiers in Cardiovascular Medicine (2022) Vol. 9
Open Access | Times Cited: 9
Pedro Barbosa, Marta Ribeiro, Maria Carmo‐Fonseca, et al.
Frontiers in Cardiovascular Medicine (2022) Vol. 9
Open Access | Times Cited: 9
mvPPT: A Highly Efficient and Sensitive Pathogenicity Prediction Tool for Missense Variants
Shiyuan Tong, Ke Fan, Zaiwei Zhou, et al.
Genomics Proteomics & Bioinformatics (2022) Vol. 21, Iss. 2, pp. 414-426
Open Access | Times Cited: 7
Shiyuan Tong, Ke Fan, Zaiwei Zhou, et al.
Genomics Proteomics & Bioinformatics (2022) Vol. 21, Iss. 2, pp. 414-426
Open Access | Times Cited: 7
SHINE: protein language model-based pathogenicity prediction for short inframe insertion and deletion variants
Xiao Fan, Hongbing Pan, Alan Tian, et al.
Briefings in Bioinformatics (2022) Vol. 24, Iss. 1
Open Access | Times Cited: 7
Xiao Fan, Hongbing Pan, Alan Tian, et al.
Briefings in Bioinformatics (2022) Vol. 24, Iss. 1
Open Access | Times Cited: 7