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:
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders
Jordy Dekker, Rachel Schot, Michiel Bongaerts, et al.
The American Journal of Human Genetics (2023) Vol. 110, Iss. 2, pp. 251-272
Open Access | Times Cited: 29
Jordy Dekker, Rachel Schot, Michiel Bongaerts, et al.
The American Journal of Human Genetics (2023) Vol. 110, Iss. 2, pp. 251-272
Open Access | Times Cited: 29
Showing 1-25 of 29 citing articles:
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases
Nicole Weisschuh, Pascale Mazzola, Theresia Zuleger, et al.
Journal of Medical Genetics (2023) Vol. 61, Iss. 2, pp. 186-195
Open Access | Times Cited: 37
Nicole Weisschuh, Pascale Mazzola, Theresia Zuleger, et al.
Journal of Medical Genetics (2023) Vol. 61, Iss. 2, pp. 186-195
Open Access | Times Cited: 37
Re‐analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an RNU4‐2 related neurodevelopmental disorder
Rachel Schot, Federico Ferraro, Geert Geeven, et al.
Clinical Genetics (2024) Vol. 106, Iss. 4, pp. 512-517
Open Access | Times Cited: 7
Rachel Schot, Federico Ferraro, Geert Geeven, et al.
Clinical Genetics (2024) Vol. 106, Iss. 4, pp. 512-517
Open Access | Times Cited: 7
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing
Shenglan Li, Sen Zhao, Jefferson C. Sinson, et al.
The American Journal of Human Genetics (2024) Vol. 111, Iss. 5, pp. 841-862
Closed Access | Times Cited: 5
Shenglan Li, Sen Zhao, Jefferson C. Sinson, et al.
The American Journal of Human Genetics (2024) Vol. 111, Iss. 5, pp. 841-862
Closed Access | Times Cited: 5
Integrative omics approaches to advance rare disease diagnostics
Dmitrii Smirnov, Nikita Konstantinovskiy, Holger Prokisch
Journal of Inherited Metabolic Disease (2023) Vol. 46, Iss. 5, pp. 824-838
Open Access | Times Cited: 11
Dmitrii Smirnov, Nikita Konstantinovskiy, Holger Prokisch
Journal of Inherited Metabolic Disease (2023) Vol. 46, Iss. 5, pp. 824-838
Open Access | Times Cited: 11
Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting
Aida M. Bertoli‐Avella, Mandy Radefeldt, Ruslan Al‐Ali, et al.
European Journal of Human Genetics (2025)
Open Access
Aida M. Bertoli‐Avella, Mandy Radefeldt, Ruslan Al‐Ali, et al.
European Journal of Human Genetics (2025)
Open Access
Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome‐negative childhood onset epilepsy
Noor Smal, Charissa Millevert, Matthias De Wachter, et al.
Epilepsia (2025)
Closed Access
Noor Smal, Charissa Millevert, Matthias De Wachter, et al.
Epilepsia (2025)
Closed Access
Aberrant gene expression prediction across human tissues
Florian R. Hölzlwimmer, Jonas Lindner, George Tsitsiridis, et al.
Nature Communications (2025) Vol. 16, Iss. 1
Open Access
Florian R. Hölzlwimmer, Jonas Lindner, George Tsitsiridis, et al.
Nature Communications (2025) Vol. 16, Iss. 1
Open Access
The improvement in diagnostic yield of developmental and epileptic encephalopathy by the multi-omics sequential testing method
Shiwei Yang, Jiatong Liu, Yuan Quan, et al.
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease (2025) Vol. 1871, Iss. 6, pp. 167854-167854
Closed Access
Shiwei Yang, Jiatong Liu, Yuan Quan, et al.
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease (2025) Vol. 1871, Iss. 6, pp. 167854-167854
Closed Access
Genomes in clinical care
Olaf Rieß, Marc Sturm, Benita Menden, et al.
npj Genomic Medicine (2024) Vol. 9, Iss. 1
Open Access | Times Cited: 3
Olaf Rieß, Marc Sturm, Benita Menden, et al.
npj Genomic Medicine (2024) Vol. 9, Iss. 1
Open Access | Times Cited: 3
Practical Recommendations for the Selection of Patients for Individualized Splice-Switching ASO-Based Treatments
Bianca Zardetto, Marlen C. Lauffer, Willeke M. C. van Roon‐Mom, et al.
Human Mutation (2024) Vol. 2024, pp. 1-13
Open Access | Times Cited: 3
Bianca Zardetto, Marlen C. Lauffer, Willeke M. C. van Roon‐Mom, et al.
Human Mutation (2024) Vol. 2024, pp. 1-13
Open Access | Times Cited: 3
Impact of genome build on RNA-seq interpretation and diagnostics
Rachel A. Ungar, Pagé C. Goddard, Tanner Jensen, et al.
The American Journal of Human Genetics (2024) Vol. 111, Iss. 7, pp. 1282-1300
Open Access | Times Cited: 3
Rachel A. Ungar, Pagé C. Goddard, Tanner Jensen, et al.
The American Journal of Human Genetics (2024) Vol. 111, Iss. 7, pp. 1282-1300
Open Access | Times Cited: 3
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing
Blai Morales‐Romero, Gerard Muñoz-Pujol, Rafael Artuch, et al.
Molecular Genetics and Metabolism (2024) Vol. 142, Iss. 3, pp. 108511-108511
Closed Access | Times Cited: 3
Blai Morales‐Romero, Gerard Muñoz-Pujol, Rafael Artuch, et al.
Molecular Genetics and Metabolism (2024) Vol. 142, Iss. 3, pp. 108511-108511
Closed Access | Times Cited: 3
Solving the unsolved genetic epilepsies: Current and future perspectives
Katrine M. Johannesen, Zeynep Tümer, Sarah Weckhuysen, et al.
Epilepsia (2023) Vol. 64, Iss. 12, pp. 3143-3154
Open Access | Times Cited: 7
Katrine M. Johannesen, Zeynep Tümer, Sarah Weckhuysen, et al.
Epilepsia (2023) Vol. 64, Iss. 12, pp. 3143-3154
Open Access | Times Cited: 7
Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach
Carolina Jaramillo Oquendo, Htoo A. Wai, Wil I Rich, et al.
Genome Medicine (2024) Vol. 16, Iss. 1
Open Access | Times Cited: 2
Carolina Jaramillo Oquendo, Htoo A. Wai, Wil I Rich, et al.
Genome Medicine (2024) Vol. 16, Iss. 1
Open Access | Times Cited: 2
Combining optical genome mapping and RNA-seq for structural variants detection and interpretation in unsolved neurodevelopmental disorders
Bing Xiao, Xiaomei Luo, Yi Liu, et al.
Genome Medicine (2024) Vol. 16, Iss. 1
Open Access | Times Cited: 2
Bing Xiao, Xiaomei Luo, Yi Liu, et al.
Genome Medicine (2024) Vol. 16, Iss. 1
Open Access | Times Cited: 2
Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis
Sina Ghasempour, Neil Warner, Rui Guan, et al.
The Journal of Experimental Medicine (2024) Vol. 221, Iss. 12
Open Access | Times Cited: 2
Sina Ghasempour, Neil Warner, Rui Guan, et al.
The Journal of Experimental Medicine (2024) Vol. 221, Iss. 12
Open Access | Times Cited: 2
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders
Kevin Riquin, Bertrand Isidor, Sandra Mercier, et al.
Journal of Medical Genetics (2023) Vol. 61, Iss. 1, pp. 47-56
Open Access | Times Cited: 5
Kevin Riquin, Bertrand Isidor, Sandra Mercier, et al.
Journal of Medical Genetics (2023) Vol. 61, Iss. 1, pp. 47-56
Open Access | Times Cited: 5
Analysis of 3760 hematologic malignancies reveals rare transcriptomic aberrations of driver genes
Xueqi Cao, Sandra Huber, Ata Jadid Ahari, et al.
Genome Medicine (2024) Vol. 16, Iss. 1
Open Access | Times Cited: 1
Xueqi Cao, Sandra Huber, Ata Jadid Ahari, et al.
Genome Medicine (2024) Vol. 16, Iss. 1
Open Access | Times Cited: 1
Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome
Daphne J. Smits, Jordy Dekker, Hannie Douben, et al.
Human Genetics and Genomics Advances (2024) Vol. 5, Iss. 4, pp. 100327-100327
Open Access | Times Cited: 1
Daphne J. Smits, Jordy Dekker, Hannie Douben, et al.
Human Genetics and Genomics Advances (2024) Vol. 5, Iss. 4, pp. 100327-100327
Open Access | Times Cited: 1
Biallelic and monoallelic variants in EFEMP1 can cause a severe and distinct subtype of heritable connective tissue disorder
Merel O. Mol, Tjakko J. van Ham, Natalja Bannink, et al.
European Journal of Human Genetics (2024)
Closed Access | Times Cited: 1
Merel O. Mol, Tjakko J. van Ham, Natalja Bannink, et al.
European Journal of Human Genetics (2024)
Closed Access | Times Cited: 1
RNA-sequencing first approach generates new diagnostic candidates in Mendelian disorders
Carolina Jaramillo Oquendo, Htoo A. Wai, Will Rich, et al.
medRxiv (Cold Spring Harbor Laboratory) (2023)
Open Access | Times Cited: 2
Carolina Jaramillo Oquendo, Htoo A. Wai, Will Rich, et al.
medRxiv (Cold Spring Harbor Laboratory) (2023)
Open Access | Times Cited: 2
AXOLOTL: an accurate method for detecting aberrant gene expression in rare diseases using coexpression constraints
Fei Leng, Yang Liu, Jianzhao Zhang, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2024)
Open Access
Fei Leng, Yang Liu, Jianzhao Zhang, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2024)
Open Access
Impact of genome build on RNA-seq interpretation and diagnostics
Rachel A. Ungar, Pagé C. Goddard, Tanner Jensen, et al.
medRxiv (Cold Spring Harbor Laboratory) (2024)
Open Access
Rachel A. Ungar, Pagé C. Goddard, Tanner Jensen, et al.
medRxiv (Cold Spring Harbor Laboratory) (2024)
Open Access
Monica Uniken Venema, Fatimah Albuainain, Rachel Schot, et al.
Clinical Genetics (2024)
Open Access
