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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:

Genetic association analysis of 77,539 genomes reveals rare disease etiologies
Daniel Greene, Daniela Pirri, Karen Frudd, et al.
Nature Medicine (2023) Vol. 29, Iss. 3, pp. 679-688
Open Access | Times Cited: 52

Showing 1-25 of 52 citing articles:

Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders
Daniel Greene, Chantal Thys, Ian Berry, et al.
Nature Medicine (2024) Vol. 30, Iss. 8, pp. 2165-2169
Open Access | Times Cited: 27
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
Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges
Yury A. Barbitoff, Mikhail O. Ushakov, Tatyana E. Lazareva, et al.
Briefings in Bioinformatics (2024) Vol. 25, Iss. 2
Open Access | Times Cited: 7
Constitutive activation mechanism of a class C GPCR
Jin Woo Shin, Junhyeon Park, Jieun Jeong, et al.
Nature Structural & Molecular Biology (2024) Vol. 31, Iss. 4, pp. 678-687
Closed Access | Times Cited: 7
A Novel Homozygous Loss-of-Function Variant in GPR156 Delineates Non-syndromic Hearing Loss
Muhammad Aslam, Safdar Abbas, Shoaib Nawaz, et al.
Biochemical Genetics (2025)
Closed Access
Approaches to reduce the uncertainty in the clinical efficacy of orphan drugs
V. V. Оmelyanovskiy, Sergey I. Kutsev, P. A. Mukhortova, et al.
Kachestvennaya Klinicheskaya Praktika = Good Clinical Practice (2025), Iss. 4, pp. 82-96
Open Access
Zebrafish in neurodevelopmental disorders studies: Genetic models and pathological involvement of microglia
Fatemeh Hassani Nia, Valérie Wittamer
Developmental Medicine & Child Neurology (2025)
Open Access
Genetic Determinants of the Familial Hypercholesterolaemia Phenotype
Steve E. Humphries, Marta Futema
Annals of Human Genetics (2025)
Open Access
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy
Daniel Greene, Koenraad De Wispelaere, Jonathan Lees, et al.
Nature Genetics (2025)
Open Access
The AnnotSV webserver in 2023: updated visualization and ranking
Véronique Geoffroy, Jean-Baptiste Lamouche, Thomas Guignard, et al.
Nucleic Acids Research (2023) Vol. 51, Iss. W1, pp. W39-W45
Open Access | Times Cited: 10
A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease
Felix Richter, Kayleigh D. Rutherford, Anisha J. Cooke, et al.
American Journal of Kidney Diseases (2024) Vol. 83, Iss. 6, pp. 829-833
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
Germline ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition
Jiarna R. Zerella, Claire C. Homan, Peer Arts, et al.
Blood (2024) Vol. 144, Iss. 17, pp. 1765-1780
Open Access | Times Cited: 3
Mutations in the U2 snRNA geneRNU2-2Pcause a severe neurodevelopmental disorder with prominent epilepsy
Daniel Greene, Koenraad De Wispelaere, Jonathan Lees, et al.
medRxiv (Cold Spring Harbor Laboratory) (2024)
Closed Access | Times Cited: 3
Molecular insights into the activation mechanism of GPR156 in maintaining auditory function
Xiangyu Ma, Li-Nan Chen, Menghui Liao, et al.
Nature Communications (2024) Vol. 15, Iss. 1
Open Access | Times Cited: 3
Novel GPR156 variants confirm its role in moderate sensorineural hearing loss
Memoona Ramzan, Nazım Bozan, Serhat Seyhan, et al.
Scientific Reports (2023) Vol. 13, Iss. 1
Open Access | Times Cited: 8
Craniofacial disorders and dysplasias: Molecular, clinical, and management perspectives
Sunday O. Akintoye, Akinyele Olumuyiwa Adisa, Chukwubuzor Udokwu Okwuosa, et al.
Bone Reports (2024) Vol. 20, pp. 101747-101747
Open Access | Times Cited: 2
Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline
Joohyun Park, Marc Sturm, Olga Seibel-Kelemen, et al.
Genes (2024) Vol. 15, Iss. 1, pp. 136-136
Open Access | Times Cited: 2
Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema
Pascal Brouillard, Aino Murtomäki, Veli‐Matti Leppänen, et al.
Journal of Clinical Investigation (2024) Vol. 134, Iss. 14
Open Access | Times Cited: 2
Update on Recommendations for Surveillance for Children with Predisposition to Hematopoietic Malignancy
Luke Maese, Marcin W. Włodarski, Sun Young Kim, et al.
Clinical Cancer Research (2024) Vol. 30, Iss. 19, pp. 4286-4295
Closed Access | Times Cited: 2
DGRPool, a web tool leveraging harmonized Drosophila Genetic Reference Panel phenotyping data for the study of complex traits
Vincent Gardeux, R. Bevers, Fabrice David, et al.
eLife (2024) Vol. 12
Open Access | Times Cited: 2
Inhibitory G proteins play multiple roles to polarize sensory hair cell morphogenesis
Amandine Jarysta, Abigail L. D. Tadenev, Matthew Day, et al.
eLife (2023) Vol. 12
Open Access | Times Cited: 6
DGRPool: A web tool leveraging harmonized Drosophila Genetic Reference Panel phenotyping data for the study of complex traits
Vincent Gardeux, R. Bevers, Fabrice David, et al.
eLife (2023) Vol. 12
Open Access | Times Cited: 4
Evolutionarily new genes in humans with disease phenotypes reveal functional enrichment patterns shaped by adaptive innovation and sexual selection.
Jianhai Chen, Patrick Landback, Deanna Arsala, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2023)
Open Access | Times Cited: 4
Considerations for reporting variants in novel candidate genes identified during clinical genomic testing
Jessica X. Chong, Seth Berger, Samantha Baxter, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2024)
Open Access | Times Cited: 1
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