
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:
Targeted long-read sequencing identifies missing disease-causing variation
Danny E. Miller, Arvis Sulovari, Tianyun Wang, et al.
The American Journal of Human Genetics (2021) Vol. 108, Iss. 8, pp. 1436-1449
Open Access | Times Cited: 166
Danny E. Miller, Arvis Sulovari, Tianyun Wang, et al.
The American Journal of Human Genetics (2021) Vol. 108, Iss. 8, pp. 1436-1449
Open Access | Times Cited: 166
Showing 1-25 of 166 citing articles:
The Human Pangenome Project: a global resource to map genomic diversity
Ting Wang, Lucinda Antonacci-Fulton, Kerstin Howe, et al.
Nature (2022) Vol. 604, Iss. 7906, pp. 437-446
Open Access | Times Cited: 352
Ting Wang, Lucinda Antonacci-Fulton, Kerstin Howe, et al.
Nature (2022) Vol. 604, Iss. 7906, pp. 437-446
Open Access | Times Cited: 352
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: 226
Shruti Marwaha, Joshua W. Knowles, Euan A. Ashley
Genome Medicine (2022) Vol. 14, Iss. 1
Open Access | Times Cited: 226
Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing
Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, et al.
Science Advances (2022) Vol. 8, Iss. 9
Open Access | Times Cited: 127
Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, et al.
Science Advances (2022) Vol. 8, Iss. 9
Open Access | Times Cited: 127
Multiplex de Bruijn graphs enable genome assembly from long, high-fidelity reads
Anton Bankevich, Andrey V. Bzikadze, Mikhail Kolmogorov, et al.
Nature Biotechnology (2022) Vol. 40, Iss. 7, pp. 1075-1081
Open Access | Times Cited: 75
Anton Bankevich, Andrey V. Bzikadze, Mikhail Kolmogorov, et al.
Nature Biotechnology (2022) Vol. 40, Iss. 7, pp. 1075-1081
Open Access | Times Cited: 75
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: 65
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: 65
Long-Read DNA Sequencing: Recent Advances and Remaining Challenges
Peter E. Warburton, Robert Sebra
Annual Review of Genomics and Human Genetics (2023) Vol. 24, Iss. 1, pp. 109-132
Open Access | Times Cited: 63
Peter E. Warburton, Robert Sebra
Annual Review of Genomics and Human Genetics (2023) Vol. 24, Iss. 1, pp. 109-132
Open Access | Times Cited: 63
Dynamic, adaptive sampling during nanopore sequencing using Bayesian experimental design
Lukas Weilguny, Nicola De Maio, Rory Munro, et al.
Nature Biotechnology (2023) Vol. 41, Iss. 7, pp. 1018-1025
Open Access | Times Cited: 60
Lukas Weilguny, Nicola De Maio, Rory Munro, et al.
Nature Biotechnology (2023) Vol. 41, Iss. 7, pp. 1018-1025
Open Access | Times Cited: 60
Applications of long-read sequencing to Mendelian genetics
Francesco Mastrorosa, Danny E. Miller, Evan E. Eichler
Genome Medicine (2023) Vol. 15, Iss. 1
Open Access | Times Cited: 56
Francesco Mastrorosa, Danny E. Miller, Evan E. Eichler
Genome Medicine (2023) Vol. 15, Iss. 1
Open Access | Times Cited: 56
Adaptive Long‐Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4
Zhongbo Chen, Emil K. Gustavsson, Hannah Macpherson, et al.
Movement Disorders (2024) Vol. 39, Iss. 3, pp. 486-497
Open Access | Times Cited: 31
Zhongbo Chen, Emil K. Gustavsson, Hannah Macpherson, et al.
Movement Disorders (2024) Vol. 39, Iss. 3, pp. 486-497
Open Access | Times Cited: 31
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation
Jonas A. Gustafson, Sophia B Gibson, Nikhita Damaraju, et al.
medRxiv (Cold Spring Harbor Laboratory) (2024)
Open Access | Times Cited: 26
Jonas A. Gustafson, Sophia B Gibson, Nikhita Damaraju, et al.
medRxiv (Cold Spring Harbor Laboratory) (2024)
Open Access | Times Cited: 26
Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review
Stephen F. Kingsmore, Russell Nofsinger, Kasia Ellsworth
npj Genomic Medicine (2024) Vol. 9, Iss. 1
Open Access | Times Cited: 22
Stephen F. Kingsmore, Russell Nofsinger, Kasia Ellsworth
npj Genomic Medicine (2024) Vol. 9, Iss. 1
Open Access | Times Cited: 22
Long read sequencing on its way to the routine diagnostics of genetic diseases
Giulia Olivucci, Emanuela Iovino, Giovanni Innella, et al.
Frontiers in Genetics (2024) Vol. 15
Open Access | Times Cited: 19
Giulia Olivucci, Emanuela Iovino, Giovanni Innella, et al.
Frontiers in Genetics (2024) Vol. 15
Open Access | Times Cited: 19
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection
Shloka Negi, Sarah L. Stenton, Seth Berger, et al.
The American Journal of Human Genetics (2025)
Closed Access | Times Cited: 2
Shloka Negi, Sarah L. Stenton, Seth Berger, et al.
The American Journal of Human Genetics (2025)
Closed Access | Times Cited: 2
Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences
Terence Gall-Duncan, Nozomu Sato, Ryan K. C. Yuen, et al.
Genome Research (2021) Vol. 32, Iss. 1, pp. 1-27
Open Access | Times Cited: 63
Terence Gall-Duncan, Nozomu Sato, Ryan K. C. Yuen, et al.
Genome Research (2021) Vol. 32, Iss. 1, pp. 1-27
Open Access | Times Cited: 63
The Role of Genome Sequencing in Neonatal Intensive Care Units
Stephen F. Kingsmore, F. Sessions Cole
Annual Review of Genomics and Human Genetics (2022) Vol. 23, Iss. 1, pp. 427-448
Open Access | Times Cited: 50
Stephen F. Kingsmore, F. Sessions Cole
Annual Review of Genomics and Human Genetics (2022) Vol. 23, Iss. 1, pp. 427-448
Open Access | Times Cited: 50
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing
Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita, et al.
npj Genomic Medicine (2022) Vol. 7, Iss. 1
Open Access | Times Cited: 46
Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita, et al.
npj Genomic Medicine (2022) Vol. 7, Iss. 1
Open Access | Times Cited: 46
Complex genomic rearrangements: an underestimated cause of rare diseases
Jakob Schuy, Christopher M. Grochowski, Claudia M.B. Carvalho, et al.
Trends in Genetics (2022) Vol. 38, Iss. 11, pp. 1134-1146
Open Access | Times Cited: 45
Jakob Schuy, Christopher M. Grochowski, Claudia M.B. Carvalho, et al.
Trends in Genetics (2022) Vol. 38, Iss. 11, pp. 1134-1146
Open Access | Times Cited: 45
Rapid-CNS2: rapid comprehensive adaptive nanopore-sequencing of CNS tumors, a proof-of-concept study
Areeba Patel, Helin Dogan, Alexander Payne, et al.
Acta Neuropathologica (2022) Vol. 143, Iss. 5, pp. 609-612
Open Access | Times Cited: 44
Areeba Patel, Helin Dogan, Alexander Payne, et al.
Acta Neuropathologica (2022) Vol. 143, Iss. 5, pp. 609-612
Open Access | Times Cited: 44
Evaluation of microbiome enrichment and host DNA depletion in human vaginal samples using Oxford Nanopore’s adaptive sequencing
Mike Marquet, Janine Zöllkau, Jana Pastuschek, et al.
Scientific Reports (2022) Vol. 12, Iss. 1
Open Access | Times Cited: 43
Mike Marquet, Janine Zöllkau, Jana Pastuschek, et al.
Scientific Reports (2022) Vol. 12, Iss. 1
Open Access | Times Cited: 43
Long‐read sequencing for molecular diagnostics in constitutional genetic disorders
Laura K. Conlin, Erfan Aref‐Eshghi, Deborah McEldrew, et al.
Human Mutation (2022) Vol. 43, Iss. 11, pp. 1531-1544
Open Access | Times Cited: 38
Laura K. Conlin, Erfan Aref‐Eshghi, Deborah McEldrew, et al.
Human Mutation (2022) Vol. 43, Iss. 11, pp. 1531-1544
Open Access | Times Cited: 38
Portable nanopore-sequencing technology: Trends in development and applications
Chen Pin, Zepeng Sun, Jiawei Wang, et al.
Frontiers in Microbiology (2023) Vol. 14
Open Access | Times Cited: 36
Chen Pin, Zepeng Sun, Jiawei Wang, et al.
Frontiers in Microbiology (2023) Vol. 14
Open Access | Times Cited: 36
Precise characterization of somatic complex structural variations from tumor/control paired long-read sequencing data with nanomonsv
Yuichi Shiraishi, Junji Koya, Kenichi Chiba, et al.
Nucleic Acids Research (2023) Vol. 51, Iss. 14, pp. e74-e74
Open Access | Times Cited: 34
Yuichi Shiraishi, Junji Koya, Kenichi Chiba, et al.
Nucleic Acids Research (2023) Vol. 51, Iss. 14, pp. e74-e74
Open Access | Times Cited: 34
Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes
Wataru Nakamura, Makoto Hirata, Satoyo Oda, et al.
npj Genomic Medicine (2024) Vol. 9, Iss. 1
Open Access | Times Cited: 12
Wataru Nakamura, Makoto Hirata, Satoyo Oda, et al.
npj Genomic Medicine (2024) Vol. 9, Iss. 1
Open Access | Times Cited: 12
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project
W.K. Lam, Chak Sing Lau, Ho‐Ming Luk, et al.
The Lancet Regional Health - Western Pacific (2025) Vol. 55, pp. 101473-101473
Closed Access | Times Cited: 1
W.K. Lam, Chak Sing Lau, Ho‐Ming Luk, et al.
The Lancet Regional Health - Western Pacific (2025) Vol. 55, pp. 101473-101473
Closed Access | Times Cited: 1
Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseases
Shruti Sinha, Fatma Rabea, Sathishkumar Ramaswamy, et al.
Nature Communications (2025) Vol. 16, Iss. 1
Open Access | Times Cited: 1
Shruti Sinha, Fatma Rabea, Sathishkumar Ramaswamy, et al.
Nature Communications (2025) Vol. 16, Iss. 1
Open Access | Times Cited: 1