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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:

Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity
Mathieu Quinodoz, Virginie G. Peter, Katarina Cisarova, et al.
The American Journal of Human Genetics (2022) Vol. 109, Iss. 3, pp. 457-470
Open Access | Times Cited: 58

Showing 1-25 of 58 citing articles:

Genome interpretation using in silico predictors of variant impact
Panagiotis Katsonis, Kevin Wilhelm, Amanda M. Williams, et al.
Human Genetics (2022) Vol. 141, Iss. 10, pp. 1549-1577
Open Access | Times Cited: 54
Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy
Marianthi Karali, Francesco Testa, Valentina Di Iorio, et al.
Scientific Reports (2022) Vol. 12, Iss. 1
Open Access | Times Cited: 43
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis
Virginie G. Peter, Karolina Kamińska, Cristina Santos, et al.
PNAS Nexus (2023) Vol. 2, Iss. 3
Open Access | Times Cited: 28
Variant effect predictor correlation with functional assays is reflective of clinical classification performance
Benjamin Livesey, Joseph A. Marsh
bioRxiv (Cold Spring Harbor Laboratory) (2024)
Open Access | Times Cited: 9
Computational approaches for predicting variant impact: An overview from resources, principles to applications
Ye Liu, William S.B. Yeung, Philip C.N. Chiu, et al.
Frontiers in Genetics (2022) Vol. 13
Open Access | Times Cited: 32
SIGMA leverages protein structural information to predict the pathogenicity of missense variants
Hengqiang Zhao, Huakang Du, Sen Zhao, et al.
Cell Reports Methods (2024) Vol. 4, Iss. 1, pp. 100687-100687
Open Access | Times Cited: 6
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement
Shenzhao Lu, Mengqi Ma, Xiao Mao, et al.
The American Journal of Human Genetics (2022) Vol. 109, Iss. 10, pp. 1932-1943
Open Access | Times Cited: 24
Decoding molecular mechanisms for loss of function variants in the human proteome
Matteo Cagiada, Nicolas Jonsson, Kresten Lindorff‐Larsen
bioRxiv (Cold Spring Harbor Laboratory) (2024)
Open Access | Times Cited: 5
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
Chiara Giovenino, Slavica Trajkova, Lisa Pavinato, et al.
European Journal of Human Genetics (2023) Vol. 31, Iss. 11, pp. 1228-1236
Open Access | Times Cited: 12
A Novel Variant in TUBB4B Causes Progressive Cone‐Rod Dystrophy and Early Onset Sensorineural Hearing Loss
Margherita Scarpato, Francesco Testa, Anna Nesti, et al.
Molecular Genetics & Genomic Medicine (2025) Vol. 13, Iss. 2
Open Access
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy
Karolina Kamińska, Francesca Cancellieri, Mathieu Quinodoz, et al.
The American Journal of Human Genetics (2025)
Open Access
Variant effect predictor correlation with functional assays is reflective of clinical classification performance
Benjamin Livesey, Joseph A. Marsh
Genome biology (2025) Vol. 26, Iss. 1
Open Access
Defective IFT57 underlies a novel cause of Bardet-Biedl syndrome
Alexandra Nitoiu, Qihong Zhang, Erika Tavares, et al.
Human Molecular Genetics (2025)
Open Access
Explainable AI for Estimating Pathogenicity of Genetic Variants Using Large-Scale Knowledge Graphs
Shuya Abe, Shin-ichiro Tago, Kazuaki Yokoyama, et al.
Cancers (2023) Vol. 15, Iss. 4, pp. 1118-1118
Open Access | Times Cited: 10
Navigating Uncertainty: Assessing Variants of Uncertain Significance in the CDKL5 Gene for Developmental and Epileptic Encephalopathy Using In Silico Prediction Tools and Computational Analysis
Özlem Yalçın Çapan
Journal of Molecular Neuroscience (2025) Vol. 75, Iss. 1
Closed Access
A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models
Julio C. Corral-Serrano, Veronika Vaclavik, Stijn Van de Sompele, et al.
Human Molecular Genetics (2025)
Open Access
A series of reviews in familial cancer: genetic cancer risk in context variants of uncertain significance in MMR genes: which procedures should be followed?
Morghan C. Lucas, T. Keßler, Florentine Scharf, et al.
Familial Cancer (2025) Vol. 24, Iss. 2
Closed Access
Resources and tools for rare disease variant interpretation
Luana Licata, Allegra Via, Paola Turina, et al.
Frontiers in Molecular Biosciences (2023) Vol. 10
Open Access | Times Cited: 9
Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases
Daniel C. Brock, Meng Wang, Hafiz Muhammad Jafar Hussain, et al.
Human Molecular Genetics (2024) Vol. 33, Iss. 11, pp. 945-957
Closed Access | Times Cited: 2
Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase
Stéphanie Bibert, Mathieu Quinodoz, Sylvain Perriot, et al.
Nature Communications (2024) Vol. 15, Iss. 1
Open Access | Times Cited: 2
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract
Mauro Lecca, Lucia Mauri, Simone Gana, et al.
Clinical Genetics (2024) Vol. 106, Iss. 4, pp. 403-412
Closed Access | Times Cited: 2
Assessment of variant effect predictors unveils variants difficulty as a critical performance indicator
Ragousandirane Radjasandirane, Julien Diharce, Jean‐Christophe Gelly, et al.
(2024)
Closed Access | Times Cited: 2
Saturation mutagenesis-reinforced functional assays for disease-related genes
Kaiyue Ma, Shushu Huang, Kenneth Ng, et al.
Cell (2024)
Closed Access | Times Cited: 2
Dual inheritance patterns: a spectrum of non-syndromic inherited retinal disease phenotypes with varying molecular mechanisms
Lara K. Holtes, Suzanne E. de Bruijn, Frans P.M. Cremers, et al.
Progress in Retinal and Eye Research (2024) Vol. 104, pp. 101308-101308
Open Access | Times Cited: 2
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant
Caitlin Forwood, Katie A. Ashton, Ying Zhu, et al.
American Journal of Medical Genetics Part C Seminars in Medical Genetics (2023) Vol. 193, Iss. 3
Open Access | Times Cited: 5
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