
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 map of constrained coding regions in the human genome
James M. Havrilla, Brent S. Pedersen, Ryan M. Layer, et al.
Nature Genetics (2018) Vol. 51, Iss. 1, pp. 88-95
Open Access | Times Cited: 237
James M. Havrilla, Brent S. Pedersen, Ryan M. Layer, et al.
Nature Genetics (2018) Vol. 51, Iss. 1, pp. 88-95
Open Access | Times Cited: 237
Showing 1-25 of 237 citing articles:
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
F. Kyle Satterstrom, Jack A. Kosmicki, Jiebiao Wang, et al.
Cell (2020) Vol. 180, Iss. 3, pp. 568-584.e23
Open Access | Times Cited: 1898
F. Kyle Satterstrom, Jack A. Kosmicki, Jiebiao Wang, et al.
Cell (2020) Vol. 180, Iss. 3, pp. 568-584.e23
Open Access | Times Cited: 1898
Accurate proteome-wide missense variant effect prediction with AlphaMissense
Jun Cheng, Guido Novati, Joshua Pan, et al.
Science (2023) Vol. 381, Iss. 6664
Open Access | Times Cited: 882
Jun Cheng, Guido Novati, Joshua Pan, et al.
Science (2023) Vol. 381, Iss. 6664
Open Access | Times Cited: 882
CADD-Splice—improving genome-wide variant effect prediction using deep learning-derived splice scores
Philipp Rentzsch, Max Schubach, Jay Shendure, et al.
Genome Medicine (2021) Vol. 13, Iss. 1
Open Access | Times Cited: 540
Philipp Rentzsch, Max Schubach, Jay Shendure, et al.
Genome Medicine (2021) Vol. 13, Iss. 1
Open Access | Times Cited: 540
The sequences of 150,119 genomes in the UK Biobank
Bjarni V. Halldórsson, Hannes P. Eggertsson, Kristjan H. S. Moore, et al.
Nature (2022) Vol. 607, Iss. 7920, pp. 732-740
Open Access | Times Cited: 337
Bjarni V. Halldórsson, Hannes P. Eggertsson, Kristjan H. S. Moore, et al.
Nature (2022) Vol. 607, Iss. 7920, pp. 732-740
Open Access | Times Cited: 337
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
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
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
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
Rare-variant collapsing analyses for complex traits: guidelines and applications
Gundula Povysil, Slavé Petrovski, Joseph Hostyk, et al.
Nature Reviews Genetics (2019) Vol. 20, Iss. 12, pp. 747-759
Closed Access | Times Cited: 185
Gundula Povysil, Slavé Petrovski, Joseph Hostyk, et al.
Nature Reviews Genetics (2019) Vol. 20, Iss. 12, pp. 747-759
Closed Access | Times Cited: 185
CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions
Max Schubach, Thorben Maaß, Lusiné Nazaretyan, et al.
Nucleic Acids Research (2024) Vol. 52, Iss. D1, pp. D1143-D1154
Open Access | Times Cited: 135
Max Schubach, Thorben Maaß, Lusiné Nazaretyan, et al.
Nucleic Acids Research (2024) Vol. 52, Iss. D1, pp. D1143-D1154
Open Access | Times Cited: 135
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
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 deep catalogue of protein-coding variation in 983,578 individuals
Kathie Sun, Xiaodong Bai, Siying Chen, et al.
Nature (2024) Vol. 631, Iss. 8021, pp. 583-592
Open Access | Times Cited: 25
Kathie Sun, Xiaodong Bai, Siying Chen, et al.
Nature (2024) Vol. 631, Iss. 8021, pp. 583-592
Open Access | Times Cited: 25
Measuring intolerance to mutation in human genetics
Zachary L. Fuller, Jeremy J. Berg, Hakhamanesh Mostafavi, et al.
Nature Genetics (2019) Vol. 51, Iss. 5, pp. 772-776
Open Access | Times Cited: 123
Zachary L. Fuller, Jeremy J. Berg, Hakhamanesh Mostafavi, et al.
Nature Genetics (2019) Vol. 51, Iss. 5, pp. 772-776
Open Access | Times Cited: 123
A new domestic cat genome assembly based on long sequence reads empowers feline genomic medicine and identifies a novel gene for dwarfism
Reuben M. Buckley, Brian W. Davis, Wesley Brashear, et al.
PLoS Genetics (2020) Vol. 16, Iss. 10, pp. e1008926-e1008926
Open Access | Times Cited: 106
Reuben M. Buckley, Brian W. Davis, Wesley Brashear, et al.
PLoS Genetics (2020) Vol. 16, Iss. 10, pp. e1008926-e1008926
Open Access | Times Cited: 106
Genetic regulatory variation in populations informs transcriptome analysis in rare disease
Pejman Mohammadi, Stephane E. Castel, Beryl B. Cummings, et al.
Science (2019) Vol. 366, Iss. 6463, pp. 351-356
Open Access | Times Cited: 97
Pejman Mohammadi, Stephane E. Castel, Beryl B. Cummings, et al.
Science (2019) Vol. 366, Iss. 6463, pp. 351-356
Open Access | Times Cited: 97
Population genetic models of GERP scores suggest pervasive turnover of constrained sites across mammalian evolution
Christian D. Huber, Bernard Kim, Kirk E. Lohmueller
PLoS Genetics (2020) Vol. 16, Iss. 5, pp. e1008827-e1008827
Open Access | Times Cited: 92
Christian D. Huber, Bernard Kim, Kirk E. Lohmueller
PLoS Genetics (2020) Vol. 16, Iss. 5, pp. e1008827-e1008827
Open Access | Times Cited: 92
Integrative analysis reveals RNA G-quadruplexes in UTRs are selectively constrained and enriched for functional associations
David S.M. Lee, Louis R. Ghanem, Yoseph Barash
Nature Communications (2020) Vol. 11, Iss. 1
Open Access | Times Cited: 83
David S.M. Lee, Louis R. Ghanem, Yoseph Barash
Nature Communications (2020) Vol. 11, Iss. 1
Open Access | Times Cited: 83
Decoding disease: from genomes to networks to phenotypes
Aaron K. Wong, Rachel Sealfon, Chandra L. Theesfeld, et al.
Nature Reviews Genetics (2021) Vol. 22, Iss. 12, pp. 774-790
Open Access | Times Cited: 71
Aaron K. Wong, Rachel Sealfon, Chandra L. Theesfeld, et al.
Nature Reviews Genetics (2021) Vol. 22, Iss. 12, pp. 774-790
Open Access | Times Cited: 71
Exome sequencing in obsessive–compulsive disorder reveals a burden of rare damaging coding variants
Matthew Halvorsen, Jack Samuels, Ying Wang, et al.
Nature Neuroscience (2021) Vol. 24, Iss. 8, pp. 1071-1076
Closed Access | Times Cited: 66
Matthew Halvorsen, Jack Samuels, Ying Wang, et al.
Nature Neuroscience (2021) Vol. 24, Iss. 8, pp. 1071-1076
Closed Access | Times Cited: 66
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
Deep structured learning for variant prioritization in Mendelian diseases
Matt C. Danzi, Maike F. Dohrn, Sarah Fazal, et al.
Nature Communications (2023) Vol. 14, Iss. 1
Open Access | Times Cited: 28
Matt C. Danzi, Maike F. Dohrn, Sarah Fazal, et al.
Nature Communications (2023) Vol. 14, Iss. 1
Open Access | Times Cited: 28
Quantifying constraint in the human mitochondrial genome
Nicole J. Lake, Kaiyue Ma, Wei Liu, et al.
Nature (2024) Vol. 635, Iss. 8038, pp. 390-397
Closed Access | Times Cited: 15
Nicole J. Lake, Kaiyue Ma, Wei Liu, et al.
Nature (2024) Vol. 635, Iss. 8038, pp. 390-397
Closed Access | Times Cited: 15
Next-generation sequencing and bioinformatics in rare movement disorders
Michael Zech, J C Winkelmann
Nature Reviews Neurology (2024) Vol. 20, Iss. 2, pp. 114-126
Closed Access | Times Cited: 12
Michael Zech, J C Winkelmann
Nature Reviews Neurology (2024) Vol. 20, Iss. 2, pp. 114-126
Closed Access | Times Cited: 12
Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery
Xiaolei Zhang, Pantazis Theotokis, Nicholas Li, et al.
Genome Medicine (2024) Vol. 16, Iss. 1
Open Access | Times Cited: 10
Xiaolei Zhang, Pantazis Theotokis, Nicholas Li, et al.
Genome Medicine (2024) Vol. 16, Iss. 1
Open Access | Times Cited: 10
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
Valentina Cipriani, Letizia Vestito, Emma Magavern, et al.
Nature (2025)
Open Access | Times Cited: 1
Phen2Gene: rapid phenotype-driven gene prioritization for rare diseases
Mengge Zhao, James M. Havrilla, Fang Li, et al.
NAR Genomics and Bioinformatics (2020) Vol. 2, Iss. 2
Open Access | Times Cited: 69
Mengge Zhao, James M. Havrilla, Fang Li, et al.
NAR Genomics and Bioinformatics (2020) Vol. 2, Iss. 2
Open Access | Times Cited: 69
Clinical Interpretation of Sequence Variants
Junyu Zhang, Yanyi Yao, Haixian He, et al.
Current Protocols in Human Genetics (2020) Vol. 106, Iss. 1
Open Access | Times Cited: 67
Junyu Zhang, Yanyi Yao, Haixian He, et al.
Current Protocols in Human Genetics (2020) Vol. 106, Iss. 1
Open Access | Times Cited: 67