
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:
Identification of Misclassified ClinVar Variants via Disease Population Prevalence
Naisha Shah, Ying‐Chen Claire Hou, Hung‐Chun Yu, et al.
The American Journal of Human Genetics (2018) Vol. 102, Iss. 4, pp. 609-619
Open Access | Times Cited: 134
Naisha Shah, Ying‐Chen Claire Hou, Hung‐Chun Yu, et al.
The American Journal of Human Genetics (2018) Vol. 102, Iss. 4, pp. 609-619
Open Access | Times Cited: 134
Showing 1-25 of 134 citing articles:
Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics
Alvaro Barbeira, Scott Dickinson, Rodrigo Bonazzola, et al.
Nature Communications (2018) Vol. 9, Iss. 1
Open Access | Times Cited: 966
Alvaro Barbeira, Scott Dickinson, Rodrigo Bonazzola, et al.
Nature Communications (2018) Vol. 9, Iss. 1
Open Access | Times Cited: 966
Settling the score: variant prioritization and Mendelian disease
Karen Eilbeck, Aaron R. Quinlan, Mark Yandell
Nature Reviews Genetics (2017) Vol. 18, Iss. 10, pp. 599-612
Open Access | Times Cited: 240
Karen Eilbeck, Aaron R. Quinlan, Mark Yandell
Nature Reviews Genetics (2017) Vol. 18, Iss. 10, pp. 599-612
Open Access | Times Cited: 240
Next-Generation Sequencing to Diagnose Suspected Genetic Disorders
David R. Adams, Christine M. Eng
New England Journal of Medicine (2018) Vol. 379, Iss. 14, pp. 1353-1362
Closed Access | Times Cited: 217
David R. Adams, Christine M. Eng
New England Journal of Medicine (2018) Vol. 379, Iss. 14, pp. 1353-1362
Closed Access | Times Cited: 217
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
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
ClinVar at five years: Delivering on the promise
Melissa Landrum, B Kattman
Human Mutation (2018) Vol. 39, Iss. 11, pp. 1623-1630
Open Access | Times Cited: 191
Melissa Landrum, B Kattman
Human Mutation (2018) Vol. 39, Iss. 11, pp. 1623-1630
Open Access | Times Cited: 191
The landscape of tolerated genetic variation in humans and primates
Hong Gao, Tobias Hamp, Jeffrey M. Ede, et al.
Science (2023) Vol. 380, Iss. 6648
Open Access | Times Cited: 100
Hong Gao, Tobias Hamp, Jeffrey M. Ede, et al.
Science (2023) Vol. 380, Iss. 6648
Open Access | Times Cited: 100
Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil
Michel Satya Naslavsky, Marília O. Scliar, Guilherme Lopes Yamamoto, et al.
Nature Communications (2022) Vol. 13, Iss. 1
Open Access | Times Cited: 88
Michel Satya Naslavsky, Marília O. Scliar, Guilherme Lopes Yamamoto, et al.
Nature Communications (2022) Vol. 13, Iss. 1
Open Access | Times Cited: 88
Predicting the pathogenicity of missense variants using features derived from AlphaFold2
Axel Schmidt, Sebastian Röner, Karola Mai, et al.
Bioinformatics (2023) Vol. 39, Iss. 5
Open Access | Times Cited: 45
Axel Schmidt, Sebastian Röner, Karola Mai, et al.
Bioinformatics (2023) Vol. 39, Iss. 5
Open Access | Times Cited: 45
The human noncoding genome defined by genetic diversity
Julia di Iulio, István Bartha, Emily H. M. Wong, et al.
Nature Genetics (2018) Vol. 50, Iss. 3, pp. 333-337
Open Access | Times Cited: 159
Julia di Iulio, István Bartha, Emily H. M. Wong, et al.
Nature Genetics (2018) Vol. 50, Iss. 3, pp. 333-337
Open Access | Times Cited: 159
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
Patrick Deelen, Sipko van Dam, Johanna C. Herkert, et al.
Nature Communications (2019) Vol. 10, Iss. 1
Open Access | Times Cited: 126
The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results
Yvonne Bombard, Kyle B. Brothers, Sara Fitzgerald‐Butt, et al.
The American Journal of Human Genetics (2019) Vol. 104, Iss. 4, pp. 578-595
Open Access | Times Cited: 110
Yvonne Bombard, Kyle B. Brothers, Sara Fitzgerald‐Butt, et al.
The American Journal of Human Genetics (2019) Vol. 104, Iss. 4, pp. 578-595
Open Access | Times Cited: 110
Predicting Functional Effects of Synonymous Variants: A Systematic Review and Perspectives
Zishuo Zeng, Yana Bromberg
Frontiers in Genetics (2019) Vol. 10
Open Access | Times Cited: 81
Zishuo Zeng, Yana Bromberg
Frontiers in Genetics (2019) Vol. 10
Open Access | Times Cited: 81
Population-Based Penetrance of Deleterious Clinical Variants
Iain S. Forrest, Kumardeep Chaudhary, Ha My T. Vy, et al.
JAMA (2022) Vol. 327, Iss. 4, pp. 350-350
Open Access | Times Cited: 61
Iain S. Forrest, Kumardeep Chaudhary, Ha My T. Vy, et al.
JAMA (2022) Vol. 327, Iss. 4, pp. 350-350
Open Access | Times Cited: 61
StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants
Andrew G. Sharo, Zhiqiang Hu, Shamil Sunyaev, et al.
The American Journal of Human Genetics (2022) Vol. 109, Iss. 2, pp. 195-209
Open Access | Times Cited: 49
Andrew G. Sharo, Zhiqiang Hu, Shamil Sunyaev, et al.
The American Journal of Human Genetics (2022) Vol. 109, Iss. 2, pp. 195-209
Open Access | Times Cited: 49
Genetics and Pathogenesis of Dystonia
Mirja Thomsen, Lara M. Lange, Michael Zech, et al.
Annual Review of Pathology Mechanisms of Disease (2023) Vol. 19, Iss. 1, pp. 99-131
Open Access | Times Cited: 41
Mirja Thomsen, Lara M. Lange, Michael Zech, et al.
Annual Review of Pathology Mechanisms of Disease (2023) Vol. 19, Iss. 1, pp. 99-131
Open Access | Times Cited: 41
Rare penetrant mutations confer severe risk of common diseases
Petko Fiziev, Jeremy F. McRae, Jacob C. Ulirsch, et al.
Science (2023) Vol. 380, Iss. 6648
Open Access | Times Cited: 38
Petko Fiziev, Jeremy F. McRae, Jacob C. Ulirsch, et al.
Science (2023) Vol. 380, Iss. 6648
Open Access | Times Cited: 38
ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden
Andrew G. Sharo, Yangyun Zou, Aashish N. Adhikari, et al.
Genome Medicine (2023) Vol. 15, Iss. 1
Open Access | Times Cited: 24
Andrew G. Sharo, Yangyun Zou, Aashish N. Adhikari, et al.
Genome Medicine (2023) Vol. 15, Iss. 1
Open Access | Times Cited: 24
Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis
Kelvin C. de Andrade, Megan N. Frone, Talía Wegman-Ostrosky, et al.
Human Mutation (2018) Vol. 40, Iss. 1, pp. 97-105
Open Access | Times Cited: 83
Kelvin C. de Andrade, Megan N. Frone, Talía Wegman-Ostrosky, et al.
Human Mutation (2018) Vol. 40, Iss. 1, pp. 97-105
Open Access | Times Cited: 83
The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing
Hila Milo Rasouly, Emily Groopman, Reuben Heyman-Kantor, et al.
Annals of Internal Medicine (2018) Vol. 170, Iss. 1, pp. 11-11
Closed Access | Times Cited: 70
Hila Milo Rasouly, Emily Groopman, Reuben Heyman-Kantor, et al.
Annals of Internal Medicine (2018) Vol. 170, Iss. 1, pp. 11-11
Closed Access | Times Cited: 70
Clinical Genetic Screening in Adult Patients with Kidney Disease
Enrico Cocchi, Jordan G. Nestor, Ali G. Gharavi
Clinical Journal of the American Society of Nephrology (2020) Vol. 15, Iss. 10, pp. 1497-1510
Open Access | Times Cited: 63
Enrico Cocchi, Jordan G. Nestor, Ali G. Gharavi
Clinical Journal of the American Society of Nephrology (2020) Vol. 15, Iss. 10, pp. 1497-1510
Open Access | Times Cited: 63
Genetic testing for kidney disease of unknown etiology
Thomas Hays, Emily Groopman, Ali G. Gharavi
Kidney International (2020) Vol. 98, Iss. 3, pp. 590-600
Open Access | Times Cited: 55
Thomas Hays, Emily Groopman, Ali G. Gharavi
Kidney International (2020) Vol. 98, Iss. 3, pp. 590-600
Open Access | Times Cited: 55
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, et al.
The American Journal of Human Genetics (2021) Vol. 108, Iss. 6, pp. 965-982
Open Access | Times Cited: 48
Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, et al.
The American Journal of Human Genetics (2021) Vol. 108, Iss. 6, pp. 965-982
Open Access | Times Cited: 48
Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group
Aimé Lumaka, Nadia Carstens, Koenraad Devriendt, et al.
Orphanet Journal of Rare Diseases (2022) Vol. 17, Iss. 1
Open Access | Times Cited: 33
Aimé Lumaka, Nadia Carstens, Koenraad Devriendt, et al.
Orphanet Journal of Rare Diseases (2022) Vol. 17, Iss. 1
Open Access | Times Cited: 33
Development of multiplexed orthogonal base editor (MOBE) systems
Quinn T. Cowan, Sifeng Gu, Wanjun Gu, et al.
Nature Biotechnology (2024)
Closed Access | Times Cited: 6
Quinn T. Cowan, Sifeng Gu, Wanjun Gu, et al.
Nature Biotechnology (2024)
Closed Access | Times Cited: 6
Ethical Issues in Newborn Sequencing Research: The Case Study of BabySeq
Lainie Friedman Ross, Ellen Wright Clayton
PEDIATRICS (2019) Vol. 144, Iss. 6
Open Access | Times Cited: 52
Lainie Friedman Ross, Ellen Wright Clayton
PEDIATRICS (2019) Vol. 144, Iss. 6
Open Access | Times Cited: 52