
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:
Diagnostic value of whole‐exome sequencing in Chinese pediatric‐onset neuromuscular patients
Mandy Ho‐Yin Tsang, Annie Ting Gee Chiu, Bernard M. H. Kwong, et al.
Molecular Genetics & Genomic Medicine (2020) Vol. 8, Iss. 5
Open Access | Times Cited: 20
Mandy Ho‐Yin Tsang, Annie Ting Gee Chiu, Bernard M. H. Kwong, et al.
Molecular Genetics & Genomic Medicine (2020) Vol. 8, Iss. 5
Open Access | Times Cited: 20
Showing 20 citing articles:
How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
Saskia B. Wortmann, Machteld M. Oud, Mariëlle Alders, et al.
Journal of Inherited Metabolic Disease (2022) Vol. 45, Iss. 4, pp. 663-681
Open Access | Times Cited: 57
Saskia B. Wortmann, Machteld M. Oud, Mariëlle Alders, et al.
Journal of Inherited Metabolic Disease (2022) Vol. 45, Iss. 4, pp. 663-681
Open Access | Times Cited: 57
Toward the diagnosis of rare childhood genetic diseases: what do parents value most?
Samantha Pollard, Deirdre Weymann, Jessica L. Dunne, et al.
European Journal of Human Genetics (2021) Vol. 29, Iss. 10, pp. 1491-1501
Open Access | Times Cited: 37
Samantha Pollard, Deirdre Weymann, Jessica L. Dunne, et al.
European Journal of Human Genetics (2021) Vol. 29, Iss. 10, pp. 1491-1501
Open Access | Times Cited: 37
Using gene panels in the diagnosis of neuromuscular disorders: A mini-review
Kay Wei Ping Ng, Hui‐Lin Chin, Amanda X. Y. Chin, et al.
Frontiers in Neurology (2022) Vol. 13
Open Access | Times Cited: 18
Kay Wei Ping Ng, Hui‐Lin Chin, Amanda X. Y. Chin, et al.
Frontiers in Neurology (2022) Vol. 13
Open Access | Times Cited: 18
Edoardo Malfatti, Alexandru Caramizaru, Hane Lee, et al.
Clinical Genetics (2025)
Open Access
Transforming growth factor, beta-2 gene mutation causes autosomal dominant Camurati-Engelmann disease, type 2 (OMIM % 606631)
Steven Mumm, José L Paz-Ibarra, Philippe M. Campeau, et al.
Bone (2025), pp. 117477-117477
Closed Access
Steven Mumm, José L Paz-Ibarra, Philippe M. Campeau, et al.
Bone (2025), pp. 117477-117477
Closed Access
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders
Marlene Ek, Daniel Nilsson, Martin Engvall, et al.
Frontiers in Neurology (2023) Vol. 14
Open Access | Times Cited: 6
Marlene Ek, Daniel Nilsson, Martin Engvall, et al.
Frontiers in Neurology (2023) Vol. 14
Open Access | Times Cited: 6
Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre
Ivana Babič Božović, Aleš Maver, Lea Leonardis, et al.
PLoS ONE (2021) Vol. 16, Iss. 6, pp. e0252953-e0252953
Open Access | Times Cited: 14
Ivana Babič Božović, Aleš Maver, Lea Leonardis, et al.
PLoS ONE (2021) Vol. 16, Iss. 6, pp. e0252953-e0252953
Open Access | Times Cited: 14
Retrospective file review shows limited genetic services fails most patients – an argument for the implementation of exome sequencing as a first-tier test in resource-constraint settings
Emma K. Wiener, James Buchanan, Amanda Krause, et al.
Orphanet Journal of Rare Diseases (2023) Vol. 18, Iss. 1
Open Access | Times Cited: 5
Emma K. Wiener, James Buchanan, Amanda Krause, et al.
Orphanet Journal of Rare Diseases (2023) Vol. 18, Iss. 1
Open Access | Times Cited: 5
Exploring the relationship between IGHMBP2 gene mutations and spinal muscular atrophy with respiratory distress type 1 and Charcot-Marie-Tooth disease type 2S: a systematic review
Yuan Tian, Xing Jinfang, Ying Shi, et al.
Frontiers in Neuroscience (2023) Vol. 17
Open Access | Times Cited: 5
Yuan Tian, Xing Jinfang, Ying Shi, et al.
Frontiers in Neuroscience (2023) Vol. 17
Open Access | Times Cited: 5
Models for IGHMBP2-associated diseases: an overview and a roadmap for the future
Weronika Rzepnikowska, Andrzej Kochański
Neuromuscular Disorders (2021) Vol. 31, Iss. 12, pp. 1266-1278
Open Access | Times Cited: 10
Weronika Rzepnikowska, Andrzej Kochański
Neuromuscular Disorders (2021) Vol. 31, Iss. 12, pp. 1266-1278
Open Access | Times Cited: 10
Humangenetische Diagnostik und Beratung - wer, wann und wie?
Ute Grasshoff, Stephanie Spranger
Pädiatrie (2024) Vol. 36, Iss. 1, pp. 22-31
Closed Access | Times Cited: 1
Ute Grasshoff, Stephanie Spranger
Pädiatrie (2024) Vol. 36, Iss. 1, pp. 22-31
Closed Access | Times Cited: 1
Delayed Respiratory Insufficiency and Extramuscular Abnormalities in Selenoprotein N-Related Myopathies
Shu Zhang, Lin Lei, Zhirong Fan, et al.
Frontiers in Neurology (2021) Vol. 12
Open Access | Times Cited: 6
Shu Zhang, Lin Lei, Zhirong Fan, et al.
Frontiers in Neurology (2021) Vol. 12
Open Access | Times Cited: 6
Exome sequencing in the pediatric neuromuscular clinic leads to more frequent diagnosis of both neuromuscular and neurodevelopmental conditions
Alayne P. Meyer, Jianing Ma, Guy Brock, et al.
Muscle & Nerve (2023) Vol. 68, Iss. 6, pp. 833-840
Open Access | Times Cited: 2
Alayne P. Meyer, Jianing Ma, Guy Brock, et al.
Muscle & Nerve (2023) Vol. 68, Iss. 6, pp. 833-840
Open Access | Times Cited: 2
Utility of exome sequencing for the diagnosis of pediatric-onset neuromuscular diseases beyond diagnostic yield: a narrative review
Martha Cecilia Piñeros Fernández, Beatriz Morte, José Luis García‐Gimenez
Neurological Sciences (2023) Vol. 45, Iss. 4, pp. 1455-1464
Open Access | Times Cited: 2
Martha Cecilia Piñeros Fernández, Beatriz Morte, José Luis García‐Gimenez
Neurological Sciences (2023) Vol. 45, Iss. 4, pp. 1455-1464
Open Access | Times Cited: 2
Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project)
Sebastian Gippert, Matias Wagner, Theresa Brunet, et al.
Endocrine (2023) Vol. 85, Iss. 1, pp. 444-453
Open Access | Times Cited: 1
Sebastian Gippert, Matias Wagner, Theresa Brunet, et al.
Endocrine (2023) Vol. 85, Iss. 1, pp. 444-453
Open Access | Times Cited: 1
Next Generation Sequencing Panel as an Effective Approach to Genetic Testing in Patients with a Highly Variable Phenotype of Neuromuscular Disorders
Wiktoria Radziwonik, Ewelina Elert‐Dobkowska, Marek Karpiński, et al.
Research Square (Research Square) (2024)
Open Access
Wiktoria Radziwonik, Ewelina Elert‐Dobkowska, Marek Karpiński, et al.
Research Square (Research Square) (2024)
Open Access
Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders
Wiktoria Radziwonik, Ewelina Elert‐Dobkowska, Marek Karpiński, et al.
Neurogenetics (2024) Vol. 25, Iss. 3, pp. 233-247
Open Access
Wiktoria Radziwonik, Ewelina Elert‐Dobkowska, Marek Karpiński, et al.
Neurogenetics (2024) Vol. 25, Iss. 3, pp. 233-247
Open Access
Two Novel Myelin Protein Zero Mutations in a Group of Chinese Patients
Bin Chen, Zaiqiang Zhang, Na Chen, et al.
Frontiers in Neurology (2021) Vol. 12
Open Access | Times Cited: 3
Bin Chen, Zaiqiang Zhang, Na Chen, et al.
Frontiers in Neurology (2021) Vol. 12
Open Access | Times Cited: 3
Neonatal Neuromuscular Disorders
Niranjana Natarajan, Cristian Ionita
Elsevier eBooks (2023), pp. 854-861.e2
Closed Access
Niranjana Natarajan, Cristian Ionita
Elsevier eBooks (2023), pp. 854-861.e2
Closed Access
Genetic services in a resource-constrained African setting – diagnostic odysseys, limited testing strategies and the need for exome sequencing
Emma K. Wiener, J. Buchanan, Zané Lombard, et al.
Research Square (Research Square) (2022)
Open Access
Emma K. Wiener, J. Buchanan, Zané Lombard, et al.
Research Square (Research Square) (2022)
Open Access