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OpenAlex Citation Counts

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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:

Pathogenic variants that alter protein code often disrupt splicing
Rachel Soemedi, Kamil J. Cygan, Christy L. Rhine, et al.
Nature Genetics (2017) Vol. 49, Iss. 6, pp. 848-855
Open Access | Times Cited: 213

Showing 1-25 of 213 citing articles:

Predicting Splicing from Primary Sequence with Deep Learning
Kishore Jaganathan, Sofia Kyriazopoulou Panagiotopoulou, Jeremy F. McRae, et al.
Cell (2019) Vol. 176, Iss. 3, pp. 535-548.e24
Open Access | Times Cited: 1968
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
Paediatric genomics: diagnosing rare disease in children
Caroline F. Wright, David Fitzpatrick, Helen V. Firth
Nature Reviews Genetics (2018) Vol. 19, Iss. 5, pp. 253-268
Closed Access | Times Cited: 530
Artificial intelligence in clinical and genomic diagnostics
Raquel Dias, Ali Torkamani
Genome Medicine (2019) Vol. 11, Iss. 1
Open Access | Times Cited: 340
The Expanding Landscape of Alternative Splicing Variation in Human Populations
Eddie Park, Zhicheng Pan, Zijun Zhang, et al.
The American Journal of Human Genetics (2018) Vol. 102, Iss. 1, pp. 11-26
Open Access | Times Cited: 319
Genomic Analysis in the Age of Human Genome Sequencing
Tuuli Lappalainen, Alexandra J. Scott, Margot Brandt, et al.
Cell (2019) Vol. 177, Iss. 1, pp. 70-84
Open Access | Times Cited: 269
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
MMSplice: modular modeling improves the predictions of genetic variant effects on splicing
Jun Cheng, Thi Yen Duong Nguyen, Kamil J. Cygan, et al.
Genome biology (2019) Vol. 20, Iss. 1
Open Access | Times Cited: 204
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich, et al.
Genome Medicine (2022) Vol. 14, Iss. 1
Open Access | Times Cited: 142
Regulation of pre-mRNA splicing: roles in physiology and disease, and therapeutic prospects
Malgorzata Ewa Rogalska, Claudia Vivori, Juan Valcárcel
Nature Reviews Genetics (2022) Vol. 24, Iss. 4, pp. 251-269
Closed Access | Times Cited: 137
Predicting RNA splicing from DNA sequence using Pangolin
Tony Zeng, Yang Li
Genome biology (2022) Vol. 23, Iss. 1
Open Access | Times Cited: 126
From variant to function in human disease genetics
Tuuli Lappalainen, Daniel G. MacArthur
Science (2021) Vol. 373, Iss. 6562, pp. 1464-1468
Closed Access | Times Cited: 124
Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer
Kelsy C. Cotto, Yang-Yang Feng, Avinash Ramu, et al.
Nature Communications (2023) Vol. 14, Iss. 1
Open Access | Times Cited: 77
A deep catalogue of protein-coding variation in 983,578 individuals
Kathie Sun, Xiaodong Bai, Siying Chen, et al.
Nature (2024) Vol. 631, Iss. 8021, pp. 583-592
Open Access | Times Cited: 25
Structural basis of a small molecule targeting RNA for a specific splicing correction
Sébastien Campagne, Sarah Boigner, Simon Rüdisser, et al.
Nature Chemical Biology (2019) Vol. 15, Iss. 12, pp. 1191-1198
Closed Access | Times Cited: 130
A Multiplexed Assay for Exon Recognition Reveals that an Unappreciated Fraction of Rare Genetic Variants Cause Large-Effect Splicing Disruptions
Rockie Chong, Kimberly D. Insigne, David Yao, et al.
Molecular Cell (2018) Vol. 73, Iss. 1, pp. 183-194.e8
Open Access | Times Cited: 113
Combinatorial Genetics Reveals a Scaling Law for the Effects of Mutations on Splicing
Pablo Baeza-Centurion, Belén Miñana, Jörn M. Schmiedel, et al.
Cell (2019) Vol. 176, Iss. 3, pp. 549-563.e23
Open Access | Times Cited: 111
Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk
Xiaoyan Jia, Bala Bharathi Burugula, Victor Chen, et al.
The American Journal of Human Genetics (2020) Vol. 108, Iss. 1, pp. 163-175
Open Access | Times Cited: 109
Quantitative Activity Profile and Context Dependence of All Human 5′ Splice Sites
Mandy S. Wong, Justin B. Kinney, Adrian R. Krainer
Molecular Cell (2018) Vol. 71, Iss. 6, pp. 1012-1026.e3
Open Access | Times Cited: 96
Minor spliceosome and disease
Bhupendra Verma, Maureen V. Akinyi, Antto J. Norppa, et al.
Seminars in Cell and Developmental Biology (2017) Vol. 79, pp. 103-112
Open Access | Times Cited: 94
Vex-seq: high-throughput identification of the impact of genetic variation on pre-mRNA splicing efficiency
Scott I. Adamson, Lijun Zhan, Brenton R. Graveley
Genome biology (2018) Vol. 19, Iss. 1
Open Access | Times Cited: 85
Pathogenicity and selective constraint on variation near splice sites
Jenny Lord, Giuseppe Gallone, Patrick J. Short, et al.
Genome Research (2018) Vol. 29, Iss. 2, pp. 159-170
Open Access | Times Cited: 84
Splicing in the Diagnosis of Rare Disease: Advances and Challenges
Jenny Lord, Diana Baralle
Frontiers in Genetics (2021) Vol. 12
Open Access | Times Cited: 71
Genetic basis of mitochondrial diseases
Mirjana Gušić, Holger Prokisch
FEBS Letters (2021) Vol. 595, Iss. 8, pp. 1132-1158
Closed Access | Times Cited: 61
Prioritization of autoimmune disease-associated genetic variants that perturb regulatory element activity in T cells
Kousuke Mouri, Michael H. Guo, Carl G. de Boer, et al.
Nature Genetics (2022) Vol. 54, Iss. 5, pp. 603-612
Open Access | Times Cited: 50
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