
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:
S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicing
Karthik A. Jagadeesh, Joseph M. Paggi, James Ye, et al.
Nature Genetics (2019) Vol. 51, Iss. 4, pp. 755-763
Open Access | Times Cited: 67
Karthik A. Jagadeesh, Joseph M. Paggi, James Ye, et al.
Nature Genetics (2019) Vol. 51, Iss. 4, pp. 755-763
Open Access | Times Cited: 67
Showing 26-50 of 67 citing articles:
A Functional Survey of the Regulatory Landscape of Estrogen Receptor–Positive Breast Cancer Evolution
Iros Barozzi, Neil Slaven, Eleonora Canale, et al.
Cancer Discovery (2024) Vol. 14, Iss. 9, pp. 1612-1630
Open Access | Times Cited: 3
Iros Barozzi, Neil Slaven, Eleonora Canale, et al.
Cancer Discovery (2024) Vol. 14, Iss. 9, pp. 1612-1630
Open Access | Times Cited: 3
Assessment of blind predictions of the clinical significance of BRCA1 and BRCA2 variants
Melissa Cline, Giulia Babbi, Sandra Bonache, et al.
Human Mutation (2019) Vol. 40, Iss. 9, pp. 1546-1556
Open Access | Times Cited: 18
Melissa Cline, Giulia Babbi, Sandra Bonache, et al.
Human Mutation (2019) Vol. 40, Iss. 9, pp. 1546-1556
Open Access | Times Cited: 18
A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families
Revital Bronstein, Elizabeth E. Capowski, Sudeep Mehrotra, et al.
Human Molecular Genetics (2020) Vol. 29, Iss. 6, pp. 967-979
Open Access | Times Cited: 18
Revital Bronstein, Elizabeth E. Capowski, Sudeep Mehrotra, et al.
Human Molecular Genetics (2020) Vol. 29, Iss. 6, pp. 967-979
Open Access | Times Cited: 18
Rare splicing mutation in COL1A1 gene identified by whole exomes sequencing in a patient with osteogenesis imperfecta type I followed by prenatal diagnosis: A case report and review of the literature
Cristina Gug, Lavinia Caba, Ioana Mozoş, et al.
Gene (2020) Vol. 741, pp. 144565-144565
Closed Access | Times Cited: 18
Cristina Gug, Lavinia Caba, Ioana Mozoş, et al.
Gene (2020) Vol. 741, pp. 144565-144565
Closed Access | Times Cited: 18
Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay
Eugénie Dionnet, Aurélia Defour, Nathalie Da Silva, et al.
Human Mutation (2020) Vol. 41, Iss. 10, pp. 1797-1810
Open Access | Times Cited: 17
Eugénie Dionnet, Aurélia Defour, Nathalie Da Silva, et al.
Human Mutation (2020) Vol. 41, Iss. 10, pp. 1797-1810
Open Access | Times Cited: 17
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
Functional and in-silico interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
Jamie M. Ellingford, Huw B. Thomas, Charlie F Rowlands, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2019)
Open Access | Times Cited: 17
Jamie M. Ellingford, Huw B. Thomas, Charlie F Rowlands, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2019)
Open Access | Times Cited: 17
Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies
Michael J. Cormier, Brent S. Pedersen, Pınar Bayrak‐Toydemir, et al.
BMC Bioinformatics (2022) Vol. 23, Iss. 1
Open Access | Times Cited: 10
Michael J. Cormier, Brent S. Pedersen, Pınar Bayrak‐Toydemir, et al.
BMC Bioinformatics (2022) Vol. 23, Iss. 1
Open Access | Times Cited: 10
Performance evaluation of computational methods for splice-disrupting variants and improving the performance using the machine learning-based framework
Hao Liu, Jiaqi Dai, Ke Li, et al.
Briefings in Bioinformatics (2022) Vol. 23, Iss. 5
Closed Access | Times Cited: 7
Hao Liu, Jiaqi Dai, Ke Li, et al.
Briefings in Bioinformatics (2022) Vol. 23, Iss. 5
Closed Access | Times Cited: 7
Computational prediction of human deep intronic variation
Pedro Barbosa, Rosina Savisaar, Maria Carmo‐Fonseca, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2023)
Open Access | Times Cited: 4
Pedro Barbosa, Rosina Savisaar, Maria Carmo‐Fonseca, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2023)
Open Access | Times Cited: 4
Genetic Discovery Enabled by A Large Language Model
Tao Tu, Zhuoqing Fang, Zhuanfen Cheng, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2023)
Open Access | Times Cited: 4
Tao Tu, Zhuoqing Fang, Zhuanfen Cheng, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2023)
Open Access | Times Cited: 4
Co-Occurring Heterozygous CNOT3 and SMAD6 Truncating Variants: Unusual Presentation and Refinement of the IDDSADF Phenotype
Manuela Priolo, Francesca Clementina Radio, Simone Pizzi, et al.
Genes (2021) Vol. 12, Iss. 7, pp. 1009-1009
Open Access | Times Cited: 9
Manuela Priolo, Francesca Clementina Radio, Simone Pizzi, et al.
Genes (2021) Vol. 12, Iss. 7, pp. 1009-1009
Open Access | Times Cited: 9
IntSplice2: Prediction of the Splicing Effects of Intronic Single-Nucleotide Variants Using LightGBM Modeling
Jun‐ichi Takeda, Sae Fukami, Akira Tamura, et al.
Frontiers in Genetics (2021) Vol. 12
Open Access | Times Cited: 9
Jun‐ichi Takeda, Sae Fukami, Akira Tamura, et al.
Frontiers in Genetics (2021) Vol. 12
Open Access | Times Cited: 9
Interpretable prioritization of splice variants in diagnostic next-generation sequencing
Daniel Daniš, Julius O.B. Jacobsen, Leigh Carmody, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2021)
Open Access | Times Cited: 8
Daniel Daniš, Julius O.B. Jacobsen, Leigh Carmody, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2021)
Open Access | Times Cited: 8
Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry
Kaveh Rayani, Brianna Davies, Matthew Cheung, et al.
European Journal of Human Genetics (2022) Vol. 31, Iss. 5, pp. 512-520
Open Access | Times Cited: 6
Kaveh Rayani, Brianna Davies, Matthew Cheung, et al.
European Journal of Human Genetics (2022) Vol. 31, Iss. 5, pp. 512-520
Open Access | Times Cited: 6
SUsPECT: a pipeline for variant effect prediction based on custom long-read transcriptomes for improved clinical variant annotation
Renee Salz, Nuno Saraiva-Agostinho, Emil E. Vorsteveld, et al.
BMC Genomics (2023) Vol. 24, Iss. 1
Open Access | Times Cited: 3
Renee Salz, Nuno Saraiva-Agostinho, Emil E. Vorsteveld, et al.
BMC Genomics (2023) Vol. 24, Iss. 1
Open Access | Times Cited: 3
Machine Learning Approaches for the Prioritization of Genomic Variants Impacting Pre-mRNA Splicing
Charlie F Rowlands, Diana Baralle, Jamie M. Ellingford
(2019)
Open Access | Times Cited: 8
Charlie F Rowlands, Diana Baralle, Jamie M. Ellingford
(2019)
Open Access | Times Cited: 8
Feasibility of predicting allele specific expression from DNA sequencing using machine learning
Zhenhua Zhang, Freerk van Dijk, Niek de Klein, et al.
Scientific Reports (2021) Vol. 11, Iss. 1
Open Access | Times Cited: 7
Zhenhua Zhang, Freerk van Dijk, Niek de Klein, et al.
Scientific Reports (2021) Vol. 11, Iss. 1
Open Access | Times Cited: 7
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders
Charlie F Rowlands, Huw B. Thomas, Jenny Lord, et al.
Authorea (Authorea) (2020)
Open Access | Times Cited: 6
Charlie F Rowlands, Huw B. Thomas, Jenny Lord, et al.
Authorea (Authorea) (2020)
Open Access | Times Cited: 6
Identification and analysis of splicing quantitative trait loci across multiple tissues in the human genome
Diego Garrido-Martín, Beatrice Borsari, Miquel Calvo, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2020)
Open Access | Times Cited: 4
Diego Garrido-Martín, Beatrice Borsari, Miquel Calvo, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2020)
Open Access | Times Cited: 4
Ocular genetics in the genomics age
Michael A. Walter, Tayebeh Rezaie, Robert B. Hufnagel, et al.
American Journal of Medical Genetics Part C Seminars in Medical Genetics (2020) Vol. 184, Iss. 3, pp. 860-868
Open Access | Times Cited: 4
Michael A. Walter, Tayebeh Rezaie, Robert B. Hufnagel, et al.
American Journal of Medical Genetics Part C Seminars in Medical Genetics (2020) Vol. 184, Iss. 3, pp. 860-868
Open Access | Times Cited: 4
Benchmarking deep learning splice prediction tools using functional splice assays
Tabea Riepe, Mubeen Khan, Susanne Roosing, et al.
Authorea (Authorea) (2020)
Open Access | Times Cited: 4
Tabea Riepe, Mubeen Khan, Susanne Roosing, et al.
Authorea (Authorea) (2020)
Open Access | Times Cited: 4
X-CAP improves pathogenicity prediction of stopgain variants
Ruchir Rastogi, Peter D. Stenson, D.N. Cooper, et al.
Genome Medicine (2022) Vol. 14, Iss. 1
Open Access | Times Cited: 3
Ruchir Rastogi, Peter D. Stenson, D.N. Cooper, et al.
Genome Medicine (2022) Vol. 14, Iss. 1
Open Access | Times Cited: 3
Benchmarking splice variant prediction algorithms using massively parallel splicing assays
Cathy Smith, Jacob O. Kitzman
bioRxiv (Cold Spring Harbor Laboratory) (2023)
Open Access | Times Cited: 1
Cathy Smith, Jacob O. Kitzman
bioRxiv (Cold Spring Harbor Laboratory) (2023)
Open Access | Times Cited: 1
Detecting and understanding meaningful cancerous mutations based on computational models of mRNA splicing
Nicolas Lynn, Tamir Tuller
medRxiv (Cold Spring Harbor Laboratory) (2023)
Open Access | Times Cited: 1
Nicolas Lynn, Tamir Tuller
medRxiv (Cold Spring Harbor Laboratory) (2023)
Open Access | Times Cited: 1