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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:

Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq
Joseph K. Aicher, Paul Jewell, Jorge Vaquero-Garcia, et al.
Genetics in Medicine (2020) Vol. 22, Iss. 7, pp. 1181-1190
Open Access | Times Cited: 75

Showing 1-25 of 75 citing articles:

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: 140
Recommendations for clinical interpretation of variants found in non-coding regions of the genome
Jamie M. Ellingford, Joo Wook Ahn, Richard D. Bagnall, et al.
Genome Medicine (2022) Vol. 14, Iss. 1
Open Access | Times Cited: 140
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
Detection of aberrant gene expression events in RNA sequencing data
Vicente A. Yépez, Christian Mertes, Michaela Müller, et al.
Nature Protocols (2021) Vol. 16, Iss. 2, pp. 1276-1296
Open Access | Times Cited: 105
Beyond the exome: What’s next in diagnostic testing for Mendelian conditions
Monica H. Wojcik, Chloe M. Reuter, Shruti Marwaha, et al.
The American Journal of Human Genetics (2023) Vol. 110, Iss. 8, pp. 1229-1248
Open Access | Times Cited: 67
RNA splicing analysis using heterogeneous and large RNA-seq datasets
Jorge Vaquero-Garcia, Joseph K. Aicher, San Jewell, et al.
Nature Communications (2023) Vol. 14, Iss. 1
Open Access | Times Cited: 52
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
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing
David R. Murdock, Hongzheng Dai, Lindsay C. Burrage, et al.
Journal of Clinical Investigation (2020) Vol. 131, Iss. 1
Open Access | Times Cited: 133
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics
Sateesh Maddirevula, Hiroyuki Kuwahara, Nour Ewida, et al.
Genome biology (2020) Vol. 21, Iss. 1
Open Access | Times Cited: 74
Splicing in the Diagnosis of Rare Disease: Advances and Challenges
Jenny Lord, Diana Baralle
Frontiers in Genetics (2021) Vol. 12
Open Access | Times Cited: 70
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
Adam Bournazos, Lisa G. Riley, Shobhana Bommireddipalli, et al.
Genetics in Medicine (2021) Vol. 24, Iss. 1, pp. 130-145
Closed Access | Times Cited: 64
Genetic basis of mitochondrial diseases
Mirjana Gušić, Holger Prokisch
FEBS Letters (2021) Vol. 595, Iss. 8, pp. 1132-1158
Closed Access | Times Cited: 61
The Utility of Ultra-Deep RNA sequencing in Mendelian Disorder Diagnostics
Sen Zhao, Jefferson Sinson, Shenglan Li, et al.
medRxiv (Cold Spring Harbor Laboratory) (2025)
Open Access | Times Cited: 1
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.
Scientific Reports (2021) Vol. 11, Iss. 1
Open Access | Times Cited: 50
The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi‐omic pipelines
Charlotte L. Alston, Sarah L. Stenton, Gavin Hudson, et al.
The Journal of Pathology (2021) Vol. 254, Iss. 4, pp. 430-442
Open Access | Times Cited: 48
CRISPR activation to characterize splice-altering variants in easily accessible cells
Thorkild Terkelsen, Nanna S. Mikkelsen, Ebbe Norskov Bak, et al.
The American Journal of Human Genetics (2024) Vol. 111, Iss. 2, pp. 309-322
Open Access | Times Cited: 8
Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes
Eleanor G. Seaby, Heidi L. Rehm, Anne O’Donnell‐Luria
Frontiers in Genetics (2021) Vol. 12
Open Access | Times Cited: 37
Trio RNA sequencing in a cohort of medically complex children
Ashish R. Deshwar, Kyoko E. Yuki, Huayun Hou, et al.
The American Journal of Human Genetics (2023) Vol. 110, Iss. 5, pp. 895-900
Open Access | Times Cited: 14
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing
Shenglan Li, Sen Zhao, Jefferson C. Sinson, et al.
The American Journal of Human Genetics (2024) Vol. 111, Iss. 5, pp. 841-862
Closed Access | Times Cited: 5
RNA Sequencing as a Diagnostic Tool
Shamika Ketkar, Lindsay C. Burrage, Brendan Lee
JAMA (2022) Vol. 329, Iss. 1, pp. 85-85
Closed Access | Times Cited: 22
What Has the Undiagnosed Diseases Network Taught Us About the Clinical Applications of Genomic Testing?
David R. Murdock, Jill A. Rosenfeld, Brendan Lee
Annual Review of Medicine (2022) Vol. 73, Iss. 1, pp. 575-585
Open Access | Times Cited: 21
Integrative omics approaches to advance rare disease diagnostics
Dmitrii Smirnov, Nikita Konstantinovskiy, Holger Prokisch
Journal of Inherited Metabolic Disease (2023) Vol. 46, Iss. 5, pp. 824-838
Open Access | Times Cited: 12
Splicing defects in rare diseases: transcriptomics and machine learning strategies towards genetic diagnosis
Robert Wang, Ingo Helbig, Andrew C. Edmondson, et al.
Briefings in Bioinformatics (2023) Vol. 24, Iss. 5
Open Access | Times Cited: 12
Combining full-length gene assay and SpliceAI to interpret the splicing impact of all possible SPINK1 coding variants
Hao Wu, Jin‐Huan Lin, Xin‐Ying Tang, et al.
Human Genomics (2024) Vol. 18, Iss. 1
Open Access | Times Cited: 4
A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods
Rachel Youjin Oh, Ali AlMail, David Cheerie, et al.
Human Genetics and Genomics Advances (2024) Vol. 5, Iss. 3, pp. 100299-100299
Open Access | Times Cited: 4
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