
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:
Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk
Xiaoyan Jia, Bala Bharathi Burugula, Victor Chen, et al.
The American Journal of Human Genetics (2020) Vol. 108, Iss. 1, pp. 163-175
Open Access | Times Cited: 109
Xiaoyan Jia, Bala Bharathi Burugula, Victor Chen, et al.
The American Journal of Human Genetics (2020) Vol. 108, Iss. 1, pp. 163-175
Open Access | Times Cited: 109
Showing 1-25 of 109 citing articles:
Disease variant prediction with deep generative models of evolutionary data
Jonathan Frazer, Pascal Notin, Mafalda Dias, et al.
Nature (2021) Vol. 599, Iss. 7883, pp. 91-95
Open Access | Times Cited: 563
Jonathan Frazer, Pascal Notin, Mafalda Dias, et al.
Nature (2021) Vol. 599, Iss. 7883, pp. 91-95
Open Access | Times Cited: 563
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: 101
Hong Gao, Tobias Hamp, Jeffrey M. Ede, et al.
Science (2023) Vol. 380, Iss. 6648
Open Access | Times Cited: 101
ProteinGym: Large-Scale Benchmarks for Protein Design and Fitness Prediction
Pascal Notin, Aaron W. Kollasch, Daniel P. Ritter, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2023)
Open Access | Times Cited: 98
Pascal Notin, Aaron W. Kollasch, Daniel P. Ritter, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2023)
Open Access | Times Cited: 98
Lynch Syndrome Genetics and Clinical Implications
Païvi Peltomäki, Minna Nyström, Jukka‐Pekka Mecklin, et al.
Gastroenterology (2023) Vol. 164, Iss. 5, pp. 783-799
Open Access | Times Cited: 66
Païvi Peltomäki, Minna Nyström, Jukka‐Pekka Mecklin, et al.
Gastroenterology (2023) Vol. 164, Iss. 5, pp. 783-799
Open Access | Times Cited: 66
Updated benchmarking of variant effect predictors using deep mutational scanning
Benjamin Livesey, Joseph A. Marsh
Molecular Systems Biology (2023) Vol. 19, Iss. 8
Open Access | Times Cited: 64
Benjamin Livesey, Joseph A. Marsh
Molecular Systems Biology (2023) Vol. 19, Iss. 8
Open Access | Times Cited: 64
Signaling pathways involved in colorectal cancer: pathogenesis and targeted therapy
Qing Li, Shan Geng, Hao Luo, et al.
Signal Transduction and Targeted Therapy (2024) Vol. 9, Iss. 1
Open Access | Times Cited: 57
Qing Li, Shan Geng, Hao Luo, et al.
Signal Transduction and Targeted Therapy (2024) Vol. 9, Iss. 1
Open Access | Times Cited: 57
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
Functional evaluation and clinical classification of BRCA2 variants
Huaizhi Huang, Chunling Hu, Jie Na, et al.
Nature (2025)
Open Access | Times Cited: 2
Huaizhi Huang, Chunling Hu, Jie Na, et al.
Nature (2025)
Open Access | Times Cited: 2
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes
Cankut Çubuk, Alice Garrett, Subin Choi, et al.
Genetics in Medicine (2021) Vol. 23, Iss. 11, pp. 2096-2104
Open Access | Times Cited: 67
Cankut Çubuk, Alice Garrett, Subin Choi, et al.
Genetics in Medicine (2021) Vol. 23, Iss. 11, pp. 2096-2104
Open Access | Times Cited: 67
Predicting functional effect of missense variants using graph attention neural networks
Haicang Zhang, Michelle S. Xu, Xiao Fan, et al.
Nature Machine Intelligence (2022) Vol. 4, Iss. 11, pp. 1017-1028
Open Access | Times Cited: 49
Haicang Zhang, Michelle S. Xu, Xiao Fan, et al.
Nature Machine Intelligence (2022) Vol. 4, Iss. 11, pp. 1017-1028
Open Access | Times Cited: 49
Scalable Functional Assays for the Interpretation of Human Genetic Variation
Daniel Tabet, Victoria N. Parikh, Prashant Mali, et al.
Annual Review of Genetics (2022) Vol. 56, Iss. 1, pp. 441-465
Closed Access | Times Cited: 48
Daniel Tabet, Victoria N. Parikh, Prashant Mali, et al.
Annual Review of Genetics (2022) Vol. 56, Iss. 1, pp. 441-465
Closed Access | Times Cited: 48
HAP1, a new revolutionary cell model for gene editing using CRISPR-Cas9
Gemma Llargués-Sistac, Laia Bonjoch, Sergi Castellvı́-Bel
Frontiers in Cell and Developmental Biology (2023) Vol. 11
Open Access | Times Cited: 25
Gemma Llargués-Sistac, Laia Bonjoch, Sergi Castellvı́-Bel
Frontiers in Cell and Developmental Biology (2023) Vol. 11
Open Access | Times Cited: 25
Rosace: a robust deep mutational scanning analysis framework employing position and mean-variance shrinkage
J. N. K. Rao, Ruiqi Xin, Christian B. Macdonald, et al.
Genome biology (2024) Vol. 25, Iss. 1
Open Access | Times Cited: 11
J. N. K. Rao, Ruiqi Xin, Christian B. Macdonald, et al.
Genome biology (2024) Vol. 25, Iss. 1
Open Access | Times Cited: 11
The impact of systematized generation, evaluation, and incorporation of machine learning algorithms for clinical variant classification
Laure Frésard, Flavia M. Facio, Elaine Chen, et al.
medRxiv (Cold Spring Harbor Laboratory) (2025)
Open Access | Times Cited: 1
Laure Frésard, Flavia M. Facio, Elaine Chen, et al.
medRxiv (Cold Spring Harbor Laboratory) (2025)
Open Access | Times Cited: 1
High-throughput screening of human genetic variants by pooled prime editing
Michael Herger, Christina M. Kajba, Megan Buckley, et al.
Cell Genomics (2025), pp. 100814-100814
Open Access | Times Cited: 1
Michael Herger, Christina M. Kajba, Megan Buckley, et al.
Cell Genomics (2025), pp. 100814-100814
Open Access | Times Cited: 1
Linking genome variants to disease: scalable approaches to test the functional impact of human mutations
Gregory M. Findlay
Human Molecular Genetics (2021) Vol. 30, Iss. R2, pp. R187-R197
Open Access | Times Cited: 44
Gregory M. Findlay
Human Molecular Genetics (2021) Vol. 30, Iss. R2, pp. R187-R197
Open Access | Times Cited: 44
Lynch syndrome, molecular mechanisms and variant classification
Amanda B. Abildgaard, Sofie V. Nielsen, Inge Bernstein, et al.
British Journal of Cancer (2022) Vol. 128, Iss. 5, pp. 726-734
Open Access | Times Cited: 31
Amanda B. Abildgaard, Sofie V. Nielsen, Inge Bernstein, et al.
British Journal of Cancer (2022) Vol. 128, Iss. 5, pp. 726-734
Open Access | Times Cited: 31
Sequence variants affecting the genome-wide rate of germline microsatellite mutations
Snædís Kristmundsdóttir, Hákon Jónsson, Marteinn T. Hardarson, et al.
Nature Communications (2023) Vol. 14, Iss. 1
Open Access | Times Cited: 21
Snædís Kristmundsdóttir, Hákon Jónsson, Marteinn T. Hardarson, et al.
Nature Communications (2023) Vol. 14, Iss. 1
Open Access | Times Cited: 21
Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome
Anthony Scott, Felicia Hernandez, Adam Chamberlin, et al.
Genome biology (2022) Vol. 23, Iss. 1
Open Access | Times Cited: 28
Anthony Scott, Felicia Hernandez, Adam Chamberlin, et al.
Genome biology (2022) Vol. 23, Iss. 1
Open Access | Times Cited: 28
AlphaMissense is better correlated with functional assays of missense impact than earlier prediction algorithms
Alicia Ljungdahl, Sayeh Kohani, Nicholas F. Page, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2023)
Open Access | Times Cited: 14
Alicia Ljungdahl, Sayeh Kohani, Nicholas F. Page, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2023)
Open Access | Times Cited: 14
Accurate and robust protein sequence design with CarbonDesign
Milong Ren, Chungong Yu, Dongbo Bu, et al.
Nature Machine Intelligence (2024) Vol. 6, Iss. 5, pp. 536-547
Open Access | Times Cited: 6
Milong Ren, Chungong Yu, Dongbo Bu, et al.
Nature Machine Intelligence (2024) Vol. 6, Iss. 5, pp. 536-547
Open Access | Times Cited: 6
Classification of MLH1 Missense VUS Using Protein Structure-Based Deep Learning-Ramachandran Plot-Molecular Dynamics Simulations Method
Benjamin Tam, Zixin Qin, Bojin Zhao, et al.
International Journal of Molecular Sciences (2024) Vol. 25, Iss. 2, pp. 850-850
Open Access | Times Cited: 4
Benjamin Tam, Zixin Qin, Bojin Zhao, et al.
International Journal of Molecular Sciences (2024) Vol. 25, Iss. 2, pp. 850-850
Open Access | Times Cited: 4
High-throughput assays to assess variant effects on disease
Kaiyue Ma, L. Gauthier, Frances Cheung, et al.
Disease Models & Mechanisms (2024) Vol. 17, Iss. 6
Open Access | Times Cited: 4
Kaiyue Ma, L. Gauthier, Frances Cheung, et al.
Disease Models & Mechanisms (2024) Vol. 17, Iss. 6
Open Access | Times Cited: 4
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification
Samskruthi Reddy Padigepati, David Stafford, Christopher Tan, et al.
Human Genetics (2024) Vol. 143, Iss. 8, pp. 995-1004
Open Access | Times Cited: 4
Samskruthi Reddy Padigepati, David Stafford, Christopher Tan, et al.
Human Genetics (2024) Vol. 143, Iss. 8, pp. 995-1004
Open Access | Times Cited: 4
MaveDB v2: a curated community database with over three million variant effects from multiplexed functional assays
Alan F. Rubin, Joseph Min, Nathan Rollins, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2021)
Open Access | Times Cited: 25
Alan F. Rubin, Joseph Min, Nathan Rollins, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2021)
Open Access | Times Cited: 25