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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:

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease
Damian Smedley, Max Schubach, Julius O.B. Jacobsen, et al.
The American Journal of Human Genetics (2016) Vol. 99, Iss. 3, pp. 595-606
Open Access | Times Cited: 265

Showing 1-25 of 265 citing articles:

CADD: predicting the deleteriousness of variants throughout the human genome
Philipp Rentzsch, Daniela Witten, Gregory M. Cooper, et al.
Nucleic Acids Research (2018) Vol. 47, Iss. D1, pp. D886-D894
Open Access | Times Cited: 3056
GeneHancer: genome-wide integration of enhancers and target genes in GeneCards
Simon Fishilevich, Ron Nudel, Noa Rappaport, et al.
Database (2017) Vol. 2017
Open Access | Times Cited: 1116
The Human Phenotype Ontology in 2017
Sebastian Köhler, Nicole Vasilevsky, Mark Engelstad, et al.
Nucleic Acids Research (2016) Vol. 45, Iss. D1, pp. D865-D876
Open Access | Times Cited: 758
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: 638
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases
Michelle M. Clark, Zornitza Stark, Lauge Farnaes, et al.
npj Genomic Medicine (2018) Vol. 3, Iss. 1
Open Access | Times Cited: 519
Resistance to autosomal dominant Alzheimer’s disease in an APOE3 Christchurch homozygote: a case report
Joseph F. Arboleda‐Velásquez, Francisco Lopera, Michael O’Hare, et al.
Nature Medicine (2019) Vol. 25, Iss. 11, pp. 1680-1683
Open Access | Times Cited: 461
The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species
Chris Mungall, Julie A. McMurry, Sebastian Köhler, et al.
Nucleic Acids Research (2016) Vol. 45, Iss. D1, pp. D712-D722
Open Access | Times Cited: 453
Predicting the clinical impact of human mutation with deep neural networks
Laksshman Sundaram, Hong Gao, Samskruthi Reddy Padigepati, et al.
Nature Genetics (2018) Vol. 50, Iss. 8, pp. 1161-1170
Open Access | Times Cited: 402
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
Kym M. Boycott, Ana Rath, Jessica X. Chong, et al.
The American Journal of Human Genetics (2017) Vol. 100, Iss. 5, pp. 695-705
Open Access | Times Cited: 382
Towards a comprehensive catalogue of validated and target-linked human enhancers
Molly Gasperini, Jacob M. Tome, Jay Shendure
Nature Reviews Genetics (2020) Vol. 21, Iss. 5, pp. 292-310
Open Access | Times Cited: 320
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report
Damian Smedley, Katherine R. Smith, A. Martı́n, et al.
New England Journal of Medicine (2021) Vol. 385, Iss. 20, pp. 1868-1880
Open Access | Times Cited: 278
De novo mutations in regulatory elements in neurodevelopmental disorders
Patrick J. Short, Jeremy F. McRae, Giuseppe Gallone, et al.
Nature (2018) Vol. 555, Iss. 7698, pp. 611-616
Open Access | Times Cited: 271
Classification, Ontology, and Precision Medicine
Melissa Haendel, Christopher G. Chute, Peter N. Robinson
New England Journal of Medicine (2018) Vol. 379, Iss. 15, pp. 1452-1462
Open Access | Times Cited: 271
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: 241
Human gene essentiality
István Bartha, Julia di Iulio, J. Craig Venter, et al.
Nature Reviews Genetics (2017) Vol. 19, Iss. 1, pp. 51-62
Closed Access | Times Cited: 241
A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
Shruti Marwaha, Joshua W. Knowles, Euan A. Ashley
Genome Medicine (2022) Vol. 14, Iss. 1
Open Access | Times Cited: 228
Mendelian Gene Discovery: Fast and Furious with No End in Sight
Michael J. Bamshad, Deborah A. Nickerson, Jessica X. Chong
The American Journal of Human Genetics (2019) Vol. 105, Iss. 3, pp. 448-455
Open Access | Times Cited: 218
Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution
Martin Kircher, Chenling Xiong, Beth Martin, et al.
Nature Communications (2019) Vol. 10, Iss. 1
Open Access | Times Cited: 210
The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants
Josh E Petrikin, Julie A. Cakici, Michelle M. Clark, et al.
npj Genomic Medicine (2018) Vol. 3, Iss. 1
Open Access | Times Cited: 199
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
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: 141
Universal annotation of the human genome through integration of over a thousand epigenomic datasets
Ha Vu, Jason Ernst
Genome biology (2022) Vol. 23, Iss. 1
Open Access | Times Cited: 80
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: 68
Mendelian inheritance revisited: dominance and recessiveness in medical genetics
Johannes Zschocke, Peter H. Byers, Andrew O.M. Wilkie
Nature Reviews Genetics (2023) Vol. 24, Iss. 7, pp. 442-463
Closed Access | Times Cited: 54
A DNA language model based on multispecies alignment predicts the effects of genome-wide variants
Gonzalo Benegas, Carlos Albors, Alan J. Aw, et al.
Nature Biotechnology (2025)
Closed Access | Times Cited: 7
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