
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:
In silico prediction of splice-altering single nucleotide variants in the human genome
Xueqiu Jian, Eric Boerwinkle, Xiaoming Liu
Nucleic Acids Research (2014) Vol. 42, Iss. 22, pp. 13534-13544
Open Access | Times Cited: 500
Xueqiu Jian, Eric Boerwinkle, Xiaoming Liu
Nucleic Acids Research (2014) Vol. 42, Iss. 22, pp. 13534-13544
Open Access | Times Cited: 500
Showing 1-25 of 500 citing articles:
The Ensembl Variant Effect Predictor
William McLaren, Laurent Gil, Sarah Hunt, et al.
Genome biology (2016) Vol. 17, Iss. 1
Open Access | Times Cited: 6574
William McLaren, Laurent Gil, Sarah Hunt, et al.
Genome biology (2016) Vol. 17, Iss. 1
Open Access | Times Cited: 6574
dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs
Xiaoming Liu, Chunlei Wu, Chang Li, et al.
Human Mutation (2015) Vol. 37, Iss. 3, pp. 235-241
Open Access | Times Cited: 954
Xiaoming Liu, Chunlei Wu, Chang Li, et al.
Human Mutation (2015) Vol. 37, Iss. 3, pp. 235-241
Open Access | Times Cited: 954
InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines
Quan Li, Kai Wang
The American Journal of Human Genetics (2017) Vol. 100, Iss. 2, pp. 267-280
Open Access | Times Cited: 883
Quan Li, Kai Wang
The American Journal of Human Genetics (2017) Vol. 100, Iss. 2, pp. 267-280
Open Access | Times Cited: 883
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
Aude Nicolas, Kevin P. Kenna, Alan E. Renton, et al.
Neuron (2018) Vol. 97, Iss. 6, pp. 1267-1288
Open Access | Times Cited: 604
Aude Nicolas, Kevin P. Kenna, Alan E. Renton, et al.
Neuron (2018) Vol. 97, Iss. 6, pp. 1267-1288
Open Access | Times Cited: 604
Splicing mutations in human genetic disorders: examples, detection, and confirmation
Anna Abramowicz, Monika Goś
Journal of Applied Genetics (2018) Vol. 59, Iss. 3, pp. 253-268
Open Access | Times Cited: 540
Anna Abramowicz, Monika Goś
Journal of Applied Genetics (2018) Vol. 59, Iss. 3, pp. 253-268
Open Access | Times Cited: 540
CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores
Philipp Rentzsch, Max Schubach, Jay Shendure, et al.
Genome Medicine (2021) Vol. 13, Iss. 1
Open Access | Times Cited: 540
Philipp Rentzsch, Max Schubach, Jay Shendure, et al.
Genome Medicine (2021) Vol. 13, Iss. 1
Open Access | Times Cited: 540
dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs
Xiaoming Liu, Chang Li, Chengcheng Mou, et al.
Genome Medicine (2020) Vol. 12, Iss. 1
Open Access | Times Cited: 478
Xiaoming Liu, Chang Li, Chengcheng Mou, et al.
Genome Medicine (2020) Vol. 12, Iss. 1
Open Access | Times Cited: 478
The Ensembl Variant Effect Predictor
William McLaren, Laurent Gil, Sarah Hunt, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2016)
Open Access | Times Cited: 378
William McLaren, Laurent Gil, Sarah Hunt, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2016)
Open Access | Times Cited: 378
Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer
Marie Wong, Chelsea Mayoh, Loretta M. S. Lau, et al.
Nature Medicine (2020) Vol. 26, Iss. 11, pp. 1742-1753
Closed Access | Times Cited: 291
Marie Wong, Chelsea Mayoh, Loretta M. S. Lau, et al.
Nature Medicine (2020) Vol. 26, Iss. 11, pp. 1742-1753
Closed Access | Times Cited: 291
Combined immune checkpoint blockade as a therapeutic strategy for BRCA1 -mutated breast cancer
Emma Nolan, Peter Savas, Antonia N. Policheni, et al.
Science Translational Medicine (2017) Vol. 9, Iss. 393
Open Access | Times Cited: 250
Emma Nolan, Peter Savas, Antonia N. Policheni, et al.
Science Translational Medicine (2017) Vol. 9, Iss. 393
Open Access | Times Cited: 250
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
Kevin P. Kenna, Perry T.C. van Doormaal, Annelot M. Dekker, et al.
Nature Genetics (2016) Vol. 48, Iss. 9, pp. 1037-1042
Open Access | Times Cited: 246
Kevin P. Kenna, Perry T.C. van Doormaal, Annelot M. Dekker, et al.
Nature Genetics (2016) Vol. 48, Iss. 9, pp. 1037-1042
Open Access | Times Cited: 246
Systematic Analysis of Splice-Site-Creating Mutations in Cancer
Reyka G. Jayasinghe, Song Cao, Qingsong Gao, et al.
Cell Reports (2018) Vol. 23, Iss. 1, pp. 270-281.e3
Open Access | Times Cited: 223
Reyka G. Jayasinghe, Song Cao, Qingsong Gao, et al.
Cell Reports (2018) Vol. 23, Iss. 1, pp. 270-281.e3
Open Access | Times Cited: 223
Opportunities and challenges of whole-genome and -exome sequencing
Britt‐Sabina Petersen, Broder Fredrich, Marc P. Hoeppner, et al.
BMC Genomic Data (2017) Vol. 18, Iss. 1
Open Access | Times Cited: 193
Britt‐Sabina Petersen, Broder Fredrich, Marc P. Hoeppner, et al.
BMC Genomic Data (2017) Vol. 18, Iss. 1
Open Access | Times Cited: 193
RNF43 germline and somatic mutation in serrated neoplasia pathway and its association with BRAF mutation
Helen H.N. Yan, Jeffrey C W Lai, Siu Lun Ho, et al.
Gut (2016) Vol. 66, Iss. 9, pp. 1645-1656
Closed Access | Times Cited: 185
Helen H.N. Yan, Jeffrey C W Lai, Siu Lun Ho, et al.
Gut (2016) Vol. 66, Iss. 9, pp. 1645-1656
Closed Access | Times Cited: 185
The role of exome sequencing in newborn screening for inborn errors of metabolism
Aashish N. Adhikari, Renata C. Gallagher, Yaqiong Wang, et al.
Nature Medicine (2020) Vol. 26, Iss. 9, pp. 1392-1397
Open Access | Times Cited: 183
Aashish N. Adhikari, Renata C. Gallagher, Yaqiong Wang, et al.
Nature Medicine (2020) Vol. 26, Iss. 9, pp. 1392-1397
Open Access | Times Cited: 183
Aging Human Hematopoietic Stem Cells Manifest Profound Epigenetic Reprogramming of Enhancers That May Predispose to Leukemia
Emmalee R. Adelman, Hsuan-Ting Huang, Alejandro Roisman, et al.
Cancer Discovery (2019) Vol. 9, Iss. 8, pp. 1080-1101
Open Access | Times Cited: 162
Emmalee R. Adelman, Hsuan-Ting Huang, Alejandro Roisman, et al.
Cancer Discovery (2019) Vol. 9, Iss. 8, pp. 1080-1101
Open Access | Times Cited: 162
Detection of aberrant splicing events in RNA-seq data using FRASER
Christian Mertes, Ines F. Scheller, Vicente A. Yépez, et al.
Nature Communications (2021) Vol. 12, Iss. 1
Open Access | Times Cited: 121
Christian Mertes, Ines F. Scheller, Vicente A. Yépez, et al.
Nature Communications (2021) Vol. 12, Iss. 1
Open Access | Times Cited: 121
Aberrant splicing prediction across human tissues
Nils Wagner, Muhammed Hasan Çelik, Florian R. Hölzlwimmer, et al.
Nature Genetics (2023) Vol. 55, Iss. 5, pp. 861-870
Open Access | Times Cited: 50
Nils Wagner, Muhammed Hasan Çelik, Florian R. Hölzlwimmer, et al.
Nature Genetics (2023) Vol. 55, Iss. 5, pp. 861-870
Open Access | Times Cited: 50
Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson’s disease
Paul J. Hop, Dongbing Lai, Pamela Keagle, et al.
Nature Genetics (2024) Vol. 56, Iss. 7, pp. 1371-1376
Open Access | Times Cited: 29
Paul J. Hop, Dongbing Lai, Pamela Keagle, et al.
Nature Genetics (2024) Vol. 56, Iss. 7, pp. 1371-1376
Open Access | Times Cited: 29
High-efficiency base editing in the retina in primates and human tissues
Alissa Muller, Jack M. Sullivan, Wibke Schwarzer, et al.
Nature Medicine (2025)
Open Access | Times Cited: 2
Alissa Muller, Jack M. Sullivan, Wibke Schwarzer, et al.
Nature Medicine (2025)
Open Access | Times Cited: 2
Variation Interpretation Predictors: Principles, Types, Performance, and Choice
Abhishek Niroula, Mauno Vihinen
Human Mutation (2016) Vol. 37, Iss. 6, pp. 579-597
Open Access | Times Cited: 124
Abhishek Niroula, Mauno Vihinen
Human Mutation (2016) Vol. 37, Iss. 6, pp. 579-597
Open Access | Times Cited: 124
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE
Go Hun Seo, Tae Ho Kim, In Hee Choi, et al.
Clinical Genetics (2020) Vol. 98, Iss. 6, pp. 562-570
Open Access | Times Cited: 124
Go Hun Seo, Tae Ho Kim, In Hee Choi, et al.
Clinical Genetics (2020) Vol. 98, Iss. 6, pp. 562-570
Open Access | Times Cited: 124
Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation
Gustav Ahlberg, Lena Refsgaard, Pia R. Lundegaard, et al.
Nature Communications (2018) Vol. 9, Iss. 1
Open Access | Times Cited: 117
Gustav Ahlberg, Lena Refsgaard, Pia R. Lundegaard, et al.
Nature Communications (2018) Vol. 9, Iss. 1
Open Access | Times Cited: 117
QTLbase: an integrative resource for quantitative trait loci across multiple human molecular phenotypes
Zhanye Zheng, Dandan Huang, Jianhua Wang, et al.
Nucleic Acids Research (2019) Vol. 48, Iss. D1, pp. D983-D991
Open Access | Times Cited: 116
Zhanye Zheng, Dandan Huang, Jianhua Wang, et al.
Nucleic Acids Research (2019) Vol. 48, Iss. D1, pp. D983-D991
Open Access | Times Cited: 116
The population genomics of rhesus macaques (Macaca mulatta) based on whole-genome sequences
Cheng Xue, Muthuswamy Raveendran, R. Alan Harris, et al.
Genome Research (2016) Vol. 26, Iss. 12, pp. 1651-1662
Open Access | Times Cited: 110
Cheng Xue, Muthuswamy Raveendran, R. Alan Harris, et al.
Genome Research (2016) Vol. 26, Iss. 12, pp. 1651-1662
Open Access | Times Cited: 110