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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:

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: 528

Showing 1-25 of 528 citing articles:

Structural variation in the 3D genome
Malte Spielmann, Darío G. Lupiáñez, Stefan Mundlos
Nature Reviews Genetics (2018) Vol. 19, Iss. 7, pp. 453-467
Closed Access | Times Cited: 633
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
Siddharth Srivastava, Jamie Love‐Nichols, Kira A. Dies, et al.
Genetics in Medicine (2019) Vol. 21, Iss. 11, pp. 2413-2421
Open Access | Times Cited: 534
The 100 000 Genomes Project: bringing whole genome sequencing to the NHS
Clare Turnbull, Richard H. Scott, Ellen Thomas, et al.
BMJ (2018), pp. k1687-k1687
Closed Access | Times Cited: 392
Strategic vision for improving human health at The Forefront of Genomics
Eric D. Green, Chris Gunter, Leslie G. Biesecker, et al.
Nature (2020) Vol. 586, Iss. 7831, pp. 683-692
Open Access | Times Cited: 272
Performance evaluation of pathogenicity-computation methods for missense variants
Jinchen Li, Tingting Zhao, Yi Zhang, et al.
Nucleic Acids Research (2018) Vol. 46, Iss. 15, pp. 7793-7804
Open Access | Times Cited: 198
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting
Caroline F. Wright, Ben C. West, Marcus A. Tuke, et al.
The American Journal of Human Genetics (2019) Vol. 104, Iss. 2, pp. 275-286
Open Access | Times Cited: 193
Next-generation sequencing in Charcot–Marie–Tooth disease: opportunities and challenges
Menelaos Pipis, Alexander M. Rossor, Matilde Laurá, et al.
Nature Reviews Neurology (2019) Vol. 15, Iss. 11, pp. 644-656
Closed Access | Times Cited: 189
OUTRIDER: A Statistical Method for Detecting Aberrantly Expressed Genes in RNA Sequencing Data
Felix Brechtmann, Christian Mertes, Agnė Matusevičiūtė, et al.
The American Journal of Human Genetics (2018) Vol. 103, Iss. 6, pp. 907-917
Open Access | Times Cited: 166
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance
Htoo A. Wai, Jenny Lord, Matthew Lyon, et al.
Genetics in Medicine (2020) Vol. 22, Iss. 6, pp. 1005-1014
Open Access | Times Cited: 148
Enhancers in disease: molecular basis and emerging treatment strategies
Annique Claringbould, Judith B. Zaugg
Trends in Molecular Medicine (2021) Vol. 27, Iss. 11, pp. 1060-1073
Open Access | Times Cited: 146
Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts
Rebecca Kingdom, Caroline F. Wright
Frontiers in Genetics (2022) Vol. 13
Open Access | Times Cited: 144
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
Genetic Modifiers and Rare Mendelian Disease
K. M. Tahsin Hassan Rahit, Maja Tarailo‐Graovac
Genes (2020) Vol. 11, Iss. 3, pp. 239-239
Open Access | Times Cited: 139
Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease
Olivia M. de Goede, Daniel Nachun, Nicole M. Ferraro, et al.
Cell (2021) Vol. 184, Iss. 10, pp. 2633-2648.e19
Open Access | Times Cited: 131
Hemochromatosis classification: update and recommendations by the BIOIRON Society
Domenico Girelli, Fabiana Busti, Pierre Brissot, et al.
Blood (2021) Vol. 139, Iss. 20, pp. 3018-3029
Open Access | Times Cited: 116
Machine learning in rare disease
Jineta Banerjee, Jaclyn Taroni, Robert J. Allaway, et al.
Nature Methods (2023) Vol. 20, Iss. 6, pp. 803-814
Closed Access | Times Cited: 46
The expanding diagnostic toolbox for rare genetic diseases
Kristin D. Kernohan, Kym M. Boycott
Nature Reviews Genetics (2024) Vol. 25, Iss. 6, pp. 401-415
Closed Access | Times Cited: 29
Analysis of AlphaMissense data in different protein groups and structural context
Hedvig Tordai, Odalys Torres, Máté Csepi, et al.
Scientific Data (2024) Vol. 11, Iss. 1
Open Access | Times Cited: 21
Rapid and scalable personalized ASO screening in patient-derived organoids
John C. Means, Anabel Martinez‐Bengochea, Daniel Louiselle, et al.
Nature (2025) Vol. 638, Iss. 8049, pp. 237-243
Open Access | Times Cited: 5
Transcriptomic signatures across human tissues identify functional rare genetic variation
Nicole M. Ferraro, Benjamin J. Strober, Jonah Einson, et al.
Science (2020) Vol. 369, Iss. 6509
Open Access | Times Cited: 134
Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis
Patrick Deelen, Sipko van Dam, Johanna C. Herkert, et al.
Nature Communications (2019) Vol. 10, Iss. 1
Open Access | Times Cited: 126
Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases
David Bick, Marilyn C. Jones, Stacie L. Taylor, et al.
Journal of Medical Genetics (2019) Vol. 56, Iss. 12, pp. 783-791
Open Access | Times Cited: 124
Systematic dissection of biases in whole-exome and whole-genome sequencing reveals major determinants of coding sequence coverage
Yury A. Barbitoff, Dmitrii E. Polev, Аndrey S. Glotov, et al.
Scientific Reports (2020) Vol. 10, Iss. 1
Open Access | Times Cited: 113
Recent developments in genetic/genomic medicine
Rachel Horton, Anneke Lucassen
Clinical Science (2019) Vol. 133, Iss. 5, pp. 697-708
Open Access | Times Cited: 110
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases
Francisco M. De La Vega, Shimul Chowdhury, Barry Moore, et al.
Genome Medicine (2021) Vol. 13, Iss. 1
Open Access | Times Cited: 102
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