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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:

Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis
Natasha Caminsky, Eliseos J. Mucaki, Peter K. Rogan
F1000Research (2014) Vol. 3, pp. 282-282
Open Access | Times Cited: 89

Showing 1-25 of 89 citing articles:

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
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
Deep intronic mutations and human disease
Rita Vaz‐Drago, Noélia Custódio, Maria Carmo‐Fonseca
Human Genetics (2017) Vol. 136, Iss. 9, pp. 1093-1111
Closed Access | Times Cited: 381
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
mRNA processing in mutant zebrafish lines generated by chemical and CRISPR-mediated mutagenesis produces unexpected transcripts that escape nonsense-mediated decay
Jennifer L. Anderson, Timothy S. Mulligan, Meng‐Chieh Shen, et al.
PLoS Genetics (2017) Vol. 13, Iss. 11, pp. e1007105-e1007105
Open Access | Times Cited: 108
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: 92
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
Dominant optic atrophy: Culprit mitochondria in the optic nerve
Guy Lenaers, Albert Neutzner, Yannick Le Dantec, et al.
Progress in Retinal and Eye Research (2020) Vol. 83, pp. 100935-100935
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
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease
Mubeen Khan, Gavin Arno, Ana Fakin, et al.
Molecular Therapy — Nucleic Acids (2020) Vol. 21, pp. 412-427
Open Access | Times Cited: 67
Interpretable prioritization of splice variants in diagnostic next-generation sequencing
Daniel Daniš, Julius O.B. Jacobsen, Leigh Carmody, et al.
The American Journal of Human Genetics (2021) Vol. 108, Iss. 9, pp. 1564-1577
Open Access | Times Cited: 55
Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome
Yin‐Huai Chen, Giedré Grigelioniené, Phillip T. Newton, et al.
The Journal of Experimental Medicine (2020) Vol. 217, Iss. 3
Open Access | Times Cited: 53
Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4
Ana Fakin, Anthony G. Robson, Kaoru Fujinami, et al.
Investigative Ophthalmology & Visual Science (2016) Vol. 57, Iss. 11, pp. 4668-4668
Open Access | Times Cited: 48
Incorporation of exome‐based CNV analysis makes trio‐WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study
Yiwen Zhai, Zhan‐Hui Zhang, Panlai Shi, et al.
Human Mutation (2021) Vol. 42, Iss. 8, pp. 990-1004
Open Access | Times Cited: 35
The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients
Ana Fakin, Anthony G. Robson, John Chiang, et al.
Investigative Ophthalmology & Visual Science (2016) Vol. 57, Iss. 14, pp. 5963-5963
Open Access | Times Cited: 45
Mutation dynamics of CpG dinucleotides during a recent event of vertebrate diversification
Fábio Pértille, Vinicius Henrique da Silva, Anna M. Johansson, et al.
Epigenetics (2019) Vol. 14, Iss. 7, pp. 685-707
Open Access | Times Cited: 40
Characterizing variants of unknown significance in rhodopsin: A functional genomics approach
Aliete Wan, Emily Place, Eric A. Pierce, et al.
Human Mutation (2019) Vol. 40, Iss. 8, pp. 1127-1144
Open Access | Times Cited: 32
Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease
Min Young Jang, Parth Patel, Alexandre C. Pereira, et al.
Circulation Genomic and Precision Medicine (2023) Vol. 16, Iss. 3, pp. 224-231
Open Access | Times Cited: 11
Cancer Precision Medicine: Why More Is More and DNA Is Not Enough
Moritz Schütte, Lesley A. Ogilvie, Damian Rieke, et al.
Public Health Genomics (2017) Vol. 20, Iss. 2, pp. 70-80
Open Access | Times Cited: 33
A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer
Eliseos J. Mucaki, Natasha Caminsky, Ami M. Perri, et al.
BMC Medical Genomics (2016) Vol. 9, Iss. 1
Open Access | Times Cited: 29
First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants
Miriam Erandi Reyna‐Fabián, Nancy Hernández‐Martínez, Miguel Ángel Alcántara-Ortigoza, et al.
Scientific Reports (2020) Vol. 10, Iss. 1
Open Access | Times Cited: 25
Expression Changes Confirm Genomic Variants Predicted to Result in Allele-Specific, Alternative mRNA Splicing
Eliseos J. Mucaki, Ben C. Shirley, Peter K. Rogan
Frontiers in Genetics (2020) Vol. 11
Open Access | Times Cited: 24
What’s Wrong in a Jump? Prediction and Validation of Splice Site Variants
Giulia Riolo, Silvia Cantara, Claudia Ricci
Methods and Protocols (2021) Vol. 4, Iss. 3, pp. 62-62
Open Access | Times Cited: 23
RNA variant assessment using transactivation and transdifferentiation
Emmylou C Nicolas-Martinez, O.F. Robinson, Christian Pflueger, et al.
The American Journal of Human Genetics (2024) Vol. 111, Iss. 8, pp. 1673-1699
Open Access | Times Cited: 3
Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1
Alessandro Stella, Patrizia Lastella, Daria Carmela Loconte, et al.
Genes (2018) Vol. 9, Iss. 4, pp. 216-216
Open Access | Times Cited: 26
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