
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:
Centers for Mendelian Genomics: A decade of facilitating gene discovery
Samantha Baxter, Jennifer E. Posey, Nicole J. Lake, et al.
Genetics in Medicine (2022) Vol. 24, Iss. 4, pp. 784-797
Open Access | Times Cited: 67
Samantha Baxter, Jennifer E. Posey, Nicole J. Lake, et al.
Genetics in Medicine (2022) Vol. 24, Iss. 4, pp. 784-797
Open Access | Times Cited: 67
Showing 1-25 of 67 citing articles:
Genomic newborn screening for rare diseases
Zornitza Stark, Richard H. Scott
Nature Reviews Genetics (2023) Vol. 24, Iss. 11, pp. 755-766
Closed Access | Times Cited: 91
Zornitza Stark, Richard H. Scott
Nature Reviews Genetics (2023) Vol. 24, Iss. 11, pp. 755-766
Closed Access | Times Cited: 91
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
Anna Cuomo, Aparna Nathan, Soumya Raychaudhuri, et al.
Nature Reviews Genetics (2023) Vol. 24, Iss. 8, pp. 535-549
Closed Access | Times Cited: 74
Integrated multi-omics for rapid rare disease diagnosis on a national scale
Sebastian Lunke, Sophie E. Bouffler, Chirag Patel, et al.
Nature Medicine (2023) Vol. 29, Iss. 7, pp. 1681-1691
Open Access | Times Cited: 74
Sebastian Lunke, Sophie E. Bouffler, Chirag Patel, et al.
Nature Medicine (2023) Vol. 29, Iss. 7, pp. 1681-1691
Open Access | Times Cited: 74
seqr : A web‐based analysis and collaboration tool for rare disease genomics
Lynn Pais, Hana Snow, Ben Weisburd, et al.
Human Mutation (2022)
Open Access | Times Cited: 73
Lynn Pais, Hana Snow, Ben Weisburd, et al.
Human Mutation (2022)
Open Access | Times Cited: 73
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: 52
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: 52
Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans
Shinya Yamamoto, Oguz Kanca, Michael F. Wangler, et al.
Nature Reviews Genetics (2023) Vol. 25, Iss. 1, pp. 46-60
Closed Access | Times Cited: 42
Shinya Yamamoto, Oguz Kanca, Michael F. Wangler, et al.
Nature Reviews Genetics (2023) Vol. 25, Iss. 1, pp. 46-60
Closed Access | Times Cited: 42
Utility of long-read sequencing for All of Us
Medhat Mahmoud, Yongqing Huang, Kiran Garimella, et al.
Nature Communications (2024) Vol. 15, Iss. 1
Open Access | Times Cited: 38
Medhat Mahmoud, Yongqing Huang, Kiran Garimella, et al.
Nature Communications (2024) Vol. 15, Iss. 1
Open Access | Times Cited: 38
A deep catalogue of protein-coding variation in 983,578 individuals
Kathie Sun, Xiaodong Bai, Siying Chen, et al.
Nature (2024) Vol. 631, Iss. 8021, pp. 583-592
Open Access | Times Cited: 23
Kathie Sun, Xiaodong Bai, Siying Chen, et al.
Nature (2024) Vol. 631, Iss. 8021, pp. 583-592
Open Access | Times Cited: 23
Deciphering the impact of genomic variation on function
J Engreitz, Heather A. Lawson, Harinder Singh, et al.
Nature (2024) Vol. 633, Iss. 8028, pp. 47-57
Closed Access | Times Cited: 20
J Engreitz, Heather A. Lawson, Harinder Singh, et al.
Nature (2024) Vol. 633, Iss. 8028, pp. 47-57
Closed Access | Times Cited: 20
MorPhiC Consortium: towards functional characterization of all human genes
Mazhar Adli, Laralynne Przybyla, Tony Burdett, et al.
Nature (2025) Vol. 638, Iss. 8050, pp. 351-359
Closed Access | Times Cited: 3
Mazhar Adli, Laralynne Przybyla, Tony Burdett, et al.
Nature (2025) Vol. 638, Iss. 8050, pp. 351-359
Closed Access | Times Cited: 3
Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking
Kym M. Boycott, Danielle R. Azzariti, Ada Hamosh, et al.
Human Mutation (2022)
Open Access | Times Cited: 43
Kym M. Boycott, Danielle R. Azzariti, Ada Hamosh, et al.
Human Mutation (2022)
Open Access | Times Cited: 43
Rare disease gene association discovery in the 100,000 Genomes Project
Valentina Cipriani, Letizia Vestito, Emma Magavern, et al.
Nature (2025)
Open Access | Times Cited: 1
Valentina Cipriani, Letizia Vestito, Emma Magavern, et al.
Nature (2025)
Open Access | Times Cited: 1
Variant‐level matching for diagnosis and discovery: Challenges and opportunities
Eliete da S. Rodrigues, Sean Griffith, Renan Paulo Martin, et al.
Human Mutation (2022)
Open Access | Times Cited: 32
Eliete da S. Rodrigues, Sean Griffith, Renan Paulo Martin, et al.
Human Mutation (2022)
Open Access | Times Cited: 32
Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery
Kym M. Boycott, Taila Hartley, Kristin D. Kernohan, et al.
The American Journal of Human Genetics (2022) Vol. 109, Iss. 11, pp. 1947-1959
Open Access | Times Cited: 29
Kym M. Boycott, Taila Hartley, Kristin D. Kernohan, et al.
The American Journal of Human Genetics (2022) Vol. 109, Iss. 11, pp. 1947-1959
Open Access | Times Cited: 29
Utility of long-read sequencing for All of Us
Medhat Mahmoud, Yongqing Huang, Kiran Garimella, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2023)
Open Access | Times Cited: 19
Medhat Mahmoud, Yongqing Huang, Kiran Garimella, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2023)
Open Access | Times Cited: 19
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
Gabrielle Lemire, Alba Sanchis‐Juan, Kathryn Russell, et al.
The American Journal of Human Genetics (2024) Vol. 111, Iss. 5, pp. 863-876
Open Access | Times Cited: 6
Gabrielle Lemire, Alba Sanchis‐Juan, Kathryn Russell, et al.
The American Journal of Human Genetics (2024) Vol. 111, Iss. 5, pp. 863-876
Open Access | Times Cited: 6
A call to action to scale up research and clinical genomic data sharing
Zornitza Stark, David Glazer, Oliver Hofmann, et al.
Nature Reviews Genetics (2024)
Closed Access | Times Cited: 6
Zornitza Stark, David Glazer, Oliver Hofmann, et al.
Nature Reviews Genetics (2024)
Closed Access | Times Cited: 6
TOWARDS TRANSCRIPTOMICS AS A PRIMARY TOOL FOR RARE DISEASE INVESTIGATION
Stephen B. Montgomery, Jonathan A. Bernstein, Matthew T. Wheeler
Molecular Case Studies (2022), pp. mcs.a006198-mcs.a006198
Open Access | Times Cited: 23
Stephen B. Montgomery, Jonathan A. Bernstein, Matthew T. Wheeler
Molecular Case Studies (2022), pp. mcs.a006198-mcs.a006198
Open Access | Times Cited: 23
Inferring compound heterozygosity from large-scale exome sequencing data
Michael H. Guo, Laurent C. Francioli, Sarah L. Stenton, et al.
Nature Genetics (2023) Vol. 56, Iss. 1, pp. 152-161
Open Access | Times Cited: 16
Michael H. Guo, Laurent C. Francioli, Sarah L. Stenton, et al.
Nature Genetics (2023) Vol. 56, Iss. 1, pp. 152-161
Open Access | Times Cited: 16
A deep catalog of protein-coding variation in 985,830 individuals
Kathie Sun, Xiaodong Bai, Siying Chen, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2023)
Open Access | Times Cited: 14
Kathie Sun, Xiaodong Bai, Siying Chen, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2023)
Open Access | Times Cited: 14
Generating Clinical-Grade Gene–Disease Validity Classifications Through the ClinGen Data Platforms
Matt W. Wright, Courtney Thaxton, Tristan Nelson, et al.
Annual Review of Biomedical Data Science (2024) Vol. 7, Iss. 1, pp. 31-50
Closed Access | Times Cited: 5
Matt W. Wright, Courtney Thaxton, Tristan Nelson, et al.
Annual Review of Biomedical Data Science (2024) Vol. 7, Iss. 1, pp. 31-50
Closed Access | Times Cited: 5
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families
Lama AlAbdi, Sateesh Maddirevula, Hanan E. Shamseldin, et al.
Nature Communications (2023) Vol. 14, Iss. 1
Open Access | Times Cited: 12
Lama AlAbdi, Sateesh Maddirevula, Hanan E. Shamseldin, et al.
Nature Communications (2023) Vol. 14, Iss. 1
Open Access | Times Cited: 12
Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield
Jonathan Rips, Orli Halstuk, Adina Fuchs, et al.
Genetics in Medicine (2024) Vol. 26, Iss. 4, pp. 101068-101068
Closed Access | Times Cited: 4
Jonathan Rips, Orli Halstuk, Adina Fuchs, et al.
Genetics in Medicine (2024) Vol. 26, Iss. 4, pp. 101068-101068
Closed Access | Times Cited: 4
How do stochastic processes and genetic threshold effects explain incomplete penetrance and inform causal disease mechanisms?
Dagan Jenkins
Philosophical Transactions of the Royal Society B Biological Sciences (2024) Vol. 379, Iss. 1900
Open Access | Times Cited: 3
Dagan Jenkins
Philosophical Transactions of the Royal Society B Biological Sciences (2024) Vol. 379, Iss. 1900
Open Access | Times Cited: 3
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing
Jessica X. Chong, Seth Berger, Samantha Baxter, et al.
Genetics in Medicine (2024) Vol. 26, Iss. 10, pp. 101199-101199
Open Access | Times Cited: 3
Jessica X. Chong, Seth Berger, Samantha Baxter, et al.
Genetics in Medicine (2024) Vol. 26, Iss. 10, pp. 101199-101199
Open Access | Times Cited: 3