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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:

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
Beryl B. Cummings, Jamie L. Marshall, Taru Tukiainen, et al.
Science Translational Medicine (2017) Vol. 9, Iss. 386
Open Access | Times Cited: 692

Showing 26-50 of 692 citing articles:

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease
Hernán Gonorazky, Sergey Naumenko, Arun Ramani, et al.
The American Journal of Human Genetics (2019) Vol. 104, Iss. 5, pp. 1007-1007
Open Access | Times Cited: 192
Transcriptome variation in human tissues revealed by long-read sequencing
Dafni A. Glinos, Garrett Garborcauskas, Paul Hoffman, et al.
Nature (2022) Vol. 608, Iss. 7922, pp. 353-359
Open Access | Times Cited: 192
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
Insights into genetics, human biology and disease gleaned from family based genomic studies
Jennifer E. Posey, Anne O’Donnell‐Luria, Jessica X. Chong, et al.
Genetics in Medicine (2019) Vol. 21, Iss. 4, pp. 798-812
Open Access | Times Cited: 188
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases
Hane Lee, Alden Huang, Lee-kai Wang, et al.
Genetics in Medicine (2019) Vol. 22, Iss. 3, pp. 490-499
Open Access | Times Cited: 175
Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy
Richard D. Bagnall, Jodie Ingles, Marcel E. Dinger, et al.
Journal of the American College of Cardiology (2018) Vol. 72, Iss. 4, pp. 419-429
Open Access | Times Cited: 168
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
A novel ACE2 isoform is expressed in human respiratory epithelia and is upregulated in response to interferons and RNA respiratory virus infection
Cornelia Blume, Claire L. Jackson, C. Mirella Spalluto, et al.
Nature Genetics (2021) Vol. 53, Iss. 2, pp. 205-214
Open Access | Times Cited: 156
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
Mitochondrial disease in adults: recent advances and future promise
Yi Shiau Ng, Laurence A. Bindoff, Gráinne S. Gorman, et al.
The Lancet Neurology (2021) Vol. 20, Iss. 7, pp. 573-584
Open Access | Times Cited: 147
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
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
Palivizumab for preventing severe respiratory syncytial virus (RSV) infection in children
Luis Garegnani, Lea Styrmisdóttir, Pablo Rosón Rodríguez, et al.
Cochrane library (2021) Vol. 2021, Iss. 11
Open Access | Times Cited: 128
From variant to function in human disease genetics
Tuuli Lappalainen, Daniel G. MacArthur
Science (2021) Vol. 373, Iss. 6562, pp. 1464-1468
Closed Access | Times Cited: 124
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
Time-restricted feeding improves blood glucose and insulin sensitivity in overweight patients with type 2 diabetes: a randomised controlled trial
Tingting Che, Yan Cheng, Ding‐Yuan Tian, et al.
Nutrition & Metabolism (2021) Vol. 18, Iss. 1
Open Access | Times Cited: 110
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
A framework for individualized splice-switching oligonucleotide therapy
Jin‐Kuk Kim, Sijae Woo, Claudio M. de Gusmão, et al.
Nature (2023) Vol. 619, Iss. 7971, pp. 828-836
Open Access | Times Cited: 80
Single-cell genomics meets human genetics
Anna Cuomo, Aparna Nathan, Soumya Raychaudhuri, et al.
Nature Reviews Genetics (2023) Vol. 24, Iss. 8, pp. 535-549
Closed Access | Times Cited: 74
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: 65
SpliceVault predicts the precise nature of variant-associated mis-splicing
Ruebena Dawes, Adam Bournazos, Samantha J. Bryen, et al.
Nature Genetics (2023) Vol. 55, Iss. 2, pp. 324-332
Open Access | Times Cited: 58
Genome Sequencing for Diagnosing Rare Diseases
Monica H. Wojcik, Gabrielle Lemire, Eva Berger, et al.
New England Journal of Medicine (2024) Vol. 390, Iss. 21, pp. 1985-1997
Closed Access | Times Cited: 56
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
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

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