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 diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders
Kathie J. Ngo, Jessica E. Rexach, Hane Lee, et al.
Human Mutation (2019) Vol. 41, Iss. 2, pp. 487-501
Open Access | Times Cited: 71
Kathie J. Ngo, Jessica E. Rexach, Hane Lee, et al.
Human Mutation (2019) Vol. 41, Iss. 2, pp. 487-501
Open Access | Times Cited: 71
Showing 1-25 of 71 citing articles:
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
Kristina Ibáñez, James M. Polke, R. Tanner Hagelstrom, et al.
The Lancet Neurology (2022) Vol. 21, Iss. 3, pp. 234-245
Open Access | Times Cited: 122
Kristina Ibáñez, James M. Polke, R. Tanner Hagelstrom, et al.
The Lancet Neurology (2022) Vol. 21, Iss. 3, pp. 234-245
Open Access | Times Cited: 122
Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B
Céline Bonnet, David Pellerin, Virginie Roth, et al.
Scientific Reports (2023) Vol. 13, Iss. 1
Open Access | Times Cited: 51
Céline Bonnet, David Pellerin, Virginie Roth, et al.
Scientific Reports (2023) Vol. 13, Iss. 1
Open Access | Times Cited: 51
Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia
David Pellerin, Matt C. Danzi, M. Renaud, et al.
Clinical and Translational Medicine (2024) Vol. 14, Iss. 1
Open Access | Times Cited: 33
David Pellerin, Matt C. Danzi, M. Renaud, et al.
Clinical and Translational Medicine (2024) Vol. 14, Iss. 1
Open Access | Times Cited: 33
Recommendations for next generation sequencing data reanalysis of unsolved cases with suspected Mendelian disorders: A systematic review and meta-analysis
Pei Dai, Andrew Honda, Lisa Ewans, et al.
Genetics in Medicine (2022) Vol. 24, Iss. 8, pp. 1618-1629
Open Access | Times Cited: 44
Pei Dai, Andrew Honda, Lisa Ewans, et al.
Genetics in Medicine (2022) Vol. 24, Iss. 8, pp. 1618-1629
Open Access | Times Cited: 44
Re-analysis of genomic data: An overview of the mechanisms and complexities of clinical adoption
Alan J. Robertson, Natalie B. Tan, Amanda B. Spurdle, et al.
Genetics in Medicine (2022) Vol. 24, Iss. 4, pp. 798-810
Open Access | Times Cited: 41
Alan J. Robertson, Natalie B. Tan, Amanda B. Spurdle, et al.
Genetics in Medicine (2022) Vol. 24, Iss. 4, pp. 798-810
Open Access | Times Cited: 41
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review
Natalie B. Tan, Rachel Stapleton, Zornitza Stark, et al.
Molecular Genetics & Genomic Medicine (2020) Vol. 8, Iss. 11
Open Access | Times Cited: 69
Natalie B. Tan, Rachel Stapleton, Zornitza Stark, et al.
Molecular Genetics & Genomic Medicine (2020) Vol. 8, Iss. 11
Open Access | Times Cited: 69
Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family
Paula Saffie Awad, Katja Lohmann, Yasmin Hirmas, et al.
Movement Disorders (2023) Vol. 38, Iss. 6, pp. 1107-1109
Open Access | Times Cited: 17
Paula Saffie Awad, Katja Lohmann, Yasmin Hirmas, et al.
Movement Disorders (2023) Vol. 38, Iss. 6, pp. 1107-1109
Open Access | Times Cited: 17
Roles of KCNA2 in Neurological Diseases: from Physiology to Pathology
Changning Xie, Miriam Kessi, Fei Yin, et al.
Molecular Neurobiology (2024) Vol. 61, Iss. 11, pp. 8491-8517
Closed Access | Times Cited: 6
Changning Xie, Miriam Kessi, Fei Yin, et al.
Molecular Neurobiology (2024) Vol. 61, Iss. 11, pp. 8491-8517
Closed Access | Times Cited: 6
Prevalence of RFC1 -mediated spinocerebellar ataxia in a North American ataxia cohort
Dona Aboud Syriani, Darice Y. Wong, Sameer Andani, et al.
Neurology Genetics (2020) Vol. 6, Iss. 3
Open Access | Times Cited: 49
Dona Aboud Syriani, Darice Y. Wong, Sameer Andani, et al.
Neurology Genetics (2020) Vol. 6, Iss. 3
Open Access | Times Cited: 49
Using Drosophila to drive the diagnosis and understand the mechanisms of rare human diseases
Nichole Link, Hugo J. Bellen
Development (2020) Vol. 147, Iss. 21
Open Access | Times Cited: 48
Nichole Link, Hugo J. Bellen
Development (2020) Vol. 147, Iss. 21
Open Access | Times Cited: 48
Pontocerebellar Hypoplasia: a Pattern Recognition Approach
Christina T. Rüsch, Bigna K. Bölsterli, Raimund Kottke, et al.
The Cerebellum (2020) Vol. 19, Iss. 4, pp. 569-582
Closed Access | Times Cited: 44
Christina T. Rüsch, Bigna K. Bölsterli, Raimund Kottke, et al.
The Cerebellum (2020) Vol. 19, Iss. 4, pp. 569-582
Closed Access | Times Cited: 44
Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function
Ping Xu, Zhuolin Chen, Jianchi Ma, et al.
Human Genetics (2023) Vol. 142, Iss. 4, pp. 577-593
Closed Access | Times Cited: 14
Ping Xu, Zhuolin Chen, Jianchi Ma, et al.
Human Genetics (2023) Vol. 142, Iss. 4, pp. 577-593
Closed Access | Times Cited: 14
Genetic Testing of Movements Disorders: A Review of Clinical Utility
Dennis Yeow, Laura Ivete Rudaks, Sue‐Faye Siow, et al.
Tremor and Other Hyperkinetic Movements (2024) Vol. 14, Iss. 1
Open Access | Times Cited: 5
Dennis Yeow, Laura Ivete Rudaks, Sue‐Faye Siow, et al.
Tremor and Other Hyperkinetic Movements (2024) Vol. 14, Iss. 1
Open Access | Times Cited: 5
New generation genetic testing entering the clinic
Sorina Gorcenco, Andreea Ilinca, Wejdan Almasoudi, et al.
Parkinsonism & Related Disorders (2020) Vol. 73, pp. 72-84
Open Access | Times Cited: 34
Sorina Gorcenco, Andreea Ilinca, Wejdan Almasoudi, et al.
Parkinsonism & Related Disorders (2020) Vol. 73, pp. 72-84
Open Access | Times Cited: 34
Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders
Jan Henje Döring, Julian Schröter, Jerome Jüngling, et al.
International Journal of Molecular Sciences (2021) Vol. 22, Iss. 6, pp. 2824-2824
Open Access | Times Cited: 31
Jan Henje Döring, Julian Schröter, Jerome Jüngling, et al.
International Journal of Molecular Sciences (2021) Vol. 22, Iss. 6, pp. 2824-2824
Open Access | Times Cited: 31
Milestones in genetics of cerebellar ataxias
Magdalena Krygier, Maria Mazurkiewicz‐Bełdzińska
Neurogenetics (2021) Vol. 22, Iss. 4, pp. 225-234
Open Access | Times Cited: 29
Magdalena Krygier, Maria Mazurkiewicz‐Bełdzińska
Neurogenetics (2021) Vol. 22, Iss. 4, pp. 225-234
Open Access | Times Cited: 29
Paroxysmal Movement Disorders
Susan Harvey, Mary D. King, Kathleen M. Gorman
Frontiers in Neurology (2021) Vol. 12
Open Access | Times Cited: 28
Susan Harvey, Mary D. King, Kathleen M. Gorman
Frontiers in Neurology (2021) Vol. 12
Open Access | Times Cited: 28
Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative
Danique Beijer, Brent L. Fogel, Sergi Beltrán, et al.
The Cerebellum (2023) Vol. 23, Iss. 2, pp. 391-400
Open Access | Times Cited: 12
Danique Beijer, Brent L. Fogel, Sergi Beltrán, et al.
The Cerebellum (2023) Vol. 23, Iss. 2, pp. 391-400
Open Access | Times Cited: 12
Demystifying the Etiology of ILOCA in the Genomic Era: A Narrative Review
Luiz Eduardo Novis, Thiago Yoshinaga Tonholo Silva, José Luiz Pedroso, et al.
The Cerebellum (2025) Vol. 24, Iss. 2
Closed Access
Luiz Eduardo Novis, Thiago Yoshinaga Tonholo Silva, José Luiz Pedroso, et al.
The Cerebellum (2025) Vol. 24, Iss. 2
Closed Access
NGS in Hereditary Ataxia: When Rare Becomes Frequent
Daniele Galatolo, Giovanna De Michele, Gabriella Silvestri, et al.
International Journal of Molecular Sciences (2021) Vol. 22, Iss. 16, pp. 8490-8490
Open Access | Times Cited: 25
Daniele Galatolo, Giovanna De Michele, Gabriella Silvestri, et al.
International Journal of Molecular Sciences (2021) Vol. 22, Iss. 16, pp. 8490-8490
Open Access | Times Cited: 25
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting
Rayabarapu Pranav Chand, Wankhede Vinit, Varsha Vaidya, et al.
European Journal of Medical Genetics (2023) Vol. 66, Iss. 5, pp. 104730-104730
Closed Access | Times Cited: 10
Rayabarapu Pranav Chand, Wankhede Vinit, Varsha Vaidya, et al.
European Journal of Medical Genetics (2023) Vol. 66, Iss. 5, pp. 104730-104730
Closed Access | Times Cited: 10
Diagnosis of hereditary ataxias: a real-world single center experience
Adriana Meli, Vincenzo Montano, Giovanni Palermo, et al.
Journal of Neurology (2025) Vol. 272, Iss. 2
Closed Access
Adriana Meli, Vincenzo Montano, Giovanni Palermo, et al.
Journal of Neurology (2025) Vol. 272, Iss. 2
Closed Access
The molecular landscape of hereditary ataxia: a single-center study
Elisa Bregant, Elena Betto, Chiara Dal Secco, et al.
Human Genetics (2025)
Open Access
Elisa Bregant, Elena Betto, Chiara Dal Secco, et al.
Human Genetics (2025)
Open Access
Spinocerebellar ataxia 27B (SCA27B)—a systematic review and a case report of a Polish family
Adam Sebastian Hirschfeld, Julia O. Misiorek, Magdalena Dabrowska, et al.
Journal of Applied Genetics (2025)
Open Access
Adam Sebastian Hirschfeld, Julia O. Misiorek, Magdalena Dabrowska, et al.
Journal of Applied Genetics (2025)
Open Access
Inherited Cerebellar Ataxias: 5-Year Experience of the Irish National Ataxia Clinic
Petya Bogdanova‐Mihaylova, Josephine Hebert, Sharon Moran, et al.
The Cerebellum (2020) Vol. 20, Iss. 1, pp. 54-61
Closed Access | Times Cited: 25
Petya Bogdanova‐Mihaylova, Josephine Hebert, Sharon Moran, et al.
The Cerebellum (2020) Vol. 20, Iss. 1, pp. 54-61
Closed Access | Times Cited: 25
