
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 26-50 of 500 citing articles:
Rules and tools to predict the splicing effects of exonic and intronic mutations
Kinji Ohno, Jun‐ichi Takeda, Akio Masuda
Wiley Interdisciplinary Reviews - RNA (2017) Vol. 9, Iss. 1
Closed Access | Times Cited: 107
Kinji Ohno, Jun‐ichi Takeda, Akio Masuda
Wiley Interdisciplinary Reviews - RNA (2017) Vol. 9, Iss. 1
Closed Access | Times Cited: 107
WGSA: an annotation pipeline for human genome sequencing studies
Xiaoming Liu, Simon White, Bo Peng, et al.
Journal of Medical Genetics (2015) Vol. 53, Iss. 2, pp. 111-112
Open Access | Times Cited: 106
Xiaoming Liu, Simon White, Bo Peng, et al.
Journal of Medical Genetics (2015) Vol. 53, Iss. 2, pp. 111-112
Open Access | Times Cited: 106
Agonist immunotherapy restores T cell function following MEK inhibition improving efficacy in breast cancer
Sathana Dushyanthen, Zhi L. Teo, Franco Caramia, et al.
Nature Communications (2017) Vol. 8, Iss. 1
Open Access | Times Cited: 106
Sathana Dushyanthen, Zhi L. Teo, Franco Caramia, et al.
Nature Communications (2017) Vol. 8, Iss. 1
Open Access | Times Cited: 106
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period
Nicole Weisschuh, Carolin D. Obermaier, Florian Battke, et al.
Human Mutation (2020) Vol. 41, Iss. 9, pp. 1514-1527
Open Access | Times Cited: 105
Nicole Weisschuh, Carolin D. Obermaier, Florian Battke, et al.
Human Mutation (2020) Vol. 41, Iss. 9, pp. 1514-1527
Open Access | Times Cited: 105
How good are pathogenicity predictors in detecting benign variants?
Abhishek Niroula, Mauno Vihinen
PLoS Computational Biology (2019) Vol. 15, Iss. 2, pp. e1006481-e1006481
Open Access | Times Cited: 100
Abhishek Niroula, Mauno Vihinen
PLoS Computational Biology (2019) Vol. 15, Iss. 2, pp. e1006481-e1006481
Open Access | Times Cited: 100
Clinical sequencing: From raw data to diagnosis with lifetime value
Sylvan M. Caspar, Nicolo Dubacher, Anna M. Kopps, et al.
Clinical Genetics (2017) Vol. 93, Iss. 3, pp. 508-519
Open Access | Times Cited: 93
Sylvan M. Caspar, Nicolo Dubacher, Anna M. Kopps, et al.
Clinical Genetics (2017) Vol. 93, Iss. 3, pp. 508-519
Open Access | Times Cited: 93
Exome Pool-Seq in neurodevelopmental disorders
Bernt Popp, Arif B. Ekici, Christian T. Thiel, et al.
European Journal of Human Genetics (2017) Vol. 25, Iss. 12, pp. 1364-1376
Open Access | Times Cited: 89
Bernt Popp, Arif B. Ekici, Christian T. Thiel, et al.
European Journal of Human Genetics (2017) Vol. 25, Iss. 12, pp. 1364-1376
Open Access | Times Cited: 89
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort
Raphaël Leman, Pascaline Gaildrat, Gérald Le Gac, et al.
Nucleic Acids Research (2018) Vol. 46, Iss. 15, pp. 7913-7923
Open Access | Times Cited: 89
Raphaël Leman, Pascaline Gaildrat, Gérald Le Gac, et al.
Nucleic Acids Research (2018) Vol. 46, Iss. 15, pp. 7913-7923
Open Access | Times Cited: 89
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
Jenny Lord, Giuseppe Gallone, Patrick J. Short, et al.
Genome Research (2018) Vol. 29, Iss. 2, pp. 159-170
Open Access | Times Cited: 84
Insights on variant analysis in silico tools for pathogenicity prediction
Felipe Antônio de Oliveira Garcia, Edilene Santos de Andrade, Edenir Inêz Palmero
Frontiers in Genetics (2022) Vol. 13
Open Access | Times Cited: 63
Felipe Antônio de Oliveira Garcia, Edilene Santos de Andrade, Edenir Inêz Palmero
Frontiers in Genetics (2022) Vol. 13
Open Access | Times Cited: 63
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity
Mathieu Quinodoz, Virginie G. Peter, Katarina Cisarova, et al.
The American Journal of Human Genetics (2022) Vol. 109, Iss. 3, pp. 457-470
Open Access | Times Cited: 59
Mathieu Quinodoz, Virginie G. Peter, Katarina Cisarova, et al.
The American Journal of Human Genetics (2022) Vol. 109, Iss. 3, pp. 457-470
Open Access | Times Cited: 59
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing
Raphaël Leman, Béatrice Parfait, Dominique Vidaud, et al.
Human Mutation (2022) Vol. 43, Iss. 12, pp. 2308-2323
Closed Access | Times Cited: 52
Raphaël Leman, Béatrice Parfait, Dominique Vidaud, et al.
Human Mutation (2022) Vol. 43, Iss. 12, pp. 2308-2323
Closed Access | Times Cited: 52
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency
Patrick Forny, Ximena Bonilla, David Lamparter, et al.
Nature Metabolism (2023) Vol. 5, Iss. 1, pp. 80-95
Open Access | Times Cited: 37
Patrick Forny, Ximena Bonilla, David Lamparter, et al.
Nature Metabolism (2023) Vol. 5, Iss. 1, pp. 80-95
Open Access | Times Cited: 37
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis
Virginie G. Peter, Karolina Kamińska, Cristina Santos, et al.
PNAS Nexus (2023) Vol. 2, Iss. 3
Open Access | Times Cited: 29
Virginie G. Peter, Karolina Kamińska, Cristina Santos, et al.
PNAS Nexus (2023) Vol. 2, Iss. 3
Open Access | Times Cited: 29
Artificial intelligence-assisted selection and efficacy prediction of antineoplastic strategies for precision cancer therapy
Zhe Zhang, Xiawei Wei
Seminars in Cancer Biology (2023) Vol. 90, pp. 57-72
Closed Access | Times Cited: 25
Zhe Zhang, Xiawei Wei
Seminars in Cancer Biology (2023) Vol. 90, pp. 57-72
Closed Access | Times Cited: 25
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy
Darcy Fehlings, Mehdi Zarrei, Worrawat Engchuan, et al.
Nature Genetics (2024) Vol. 56, Iss. 4, pp. 585-594
Closed Access | Times Cited: 17
Darcy Fehlings, Mehdi Zarrei, Worrawat Engchuan, et al.
Nature Genetics (2024) Vol. 56, Iss. 4, pp. 585-594
Closed Access | Times Cited: 17
Genomic landscape and molecularly informed therapy in thymic carcinoma and other advanced thymic epithelial tumors
Lino Möhrmann, Lysann Rostock, Maximilian Werner, et al.
Med (2025), pp. 100612-100612
Open Access | Times Cited: 1
Lino Möhrmann, Lysann Rostock, Maximilian Werner, et al.
Med (2025), pp. 100612-100612
Open Access | Times Cited: 1
Data integration and predictive modeling methods for multi-omics datasets
Minseung Kim, Ilias Tagkopoulos
Molecular Omics (2017) Vol. 14, Iss. 1, pp. 8-25
Closed Access | Times Cited: 84
Minseung Kim, Ilias Tagkopoulos
Molecular Omics (2017) Vol. 14, Iss. 1, pp. 8-25
Closed Access | Times Cited: 84
Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanism
Dwi U. Kemaladewi, Eleonora Maino, Elzbieta Hyatt, et al.
Nature Medicine (2017) Vol. 23, Iss. 8, pp. 984-989
Closed Access | Times Cited: 79
Dwi U. Kemaladewi, Eleonora Maino, Elzbieta Hyatt, et al.
Nature Medicine (2017) Vol. 23, Iss. 8, pp. 984-989
Closed Access | Times Cited: 79
Synthetic lethal interaction between the tumour suppressor STAG2 and its paralog STAG1
Lorena Benedetti, Matteo Cereda, LeeAnn Monteverde, et al.
Oncotarget (2017) Vol. 8, Iss. 23, pp. 37619-37632
Open Access | Times Cited: 76
Lorena Benedetti, Matteo Cereda, LeeAnn Monteverde, et al.
Oncotarget (2017) Vol. 8, Iss. 23, pp. 37619-37632
Open Access | Times Cited: 76
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies
Mingchu Xu, Ya‐Jing Xie, Hana Abouzeid, et al.
The American Journal of Human Genetics (2017) Vol. 100, Iss. 4, pp. 592-604
Open Access | Times Cited: 73
Mingchu Xu, Ya‐Jing Xie, Hana Abouzeid, et al.
The American Journal of Human Genetics (2017) Vol. 100, Iss. 4, pp. 592-604
Open Access | Times Cited: 73
Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies
Maike F. Dohrn, Nicola Glöckle, Lejla Mulahasanovic, et al.
Journal of Neurochemistry (2017) Vol. 143, Iss. 5, pp. 507-522
Open Access | Times Cited: 73
Maike F. Dohrn, Nicola Glöckle, Lejla Mulahasanovic, et al.
Journal of Neurochemistry (2017) Vol. 143, Iss. 5, pp. 507-522
Open Access | Times Cited: 73
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function
Martina de Majo, Simon Topp, Bradley Smith, et al.
Neurobiology of Aging (2018) Vol. 71, pp. 266.e1-266.e10
Open Access | Times Cited: 73
Martina de Majo, Simon Topp, Bradley Smith, et al.
Neurobiology of Aging (2018) Vol. 71, pp. 266.e1-266.e10
Open Access | Times Cited: 73
VaRank: a simple and powerful tool for ranking genetic variants
Véronique Geoffroy, Cécile Pizot, Claire Redin, et al.
PeerJ (2015) Vol. 3, pp. e796-e796
Open Access | Times Cited: 72
Véronique Geoffroy, Cécile Pizot, Claire Redin, et al.
PeerJ (2015) Vol. 3, pp. e796-e796
Open Access | Times Cited: 72
Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology
Iván K. Chinn, Alice Chan, Karin Chen, et al.
Journal of Allergy and Clinical Immunology (2019) Vol. 145, Iss. 1, pp. 46-69
Open Access | Times Cited: 72
Iván K. Chinn, Alice Chan, Karin Chen, et al.
Journal of Allergy and Clinical Immunology (2019) Vol. 145, Iss. 1, pp. 46-69
Open Access | Times Cited: 72