
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 delay in rare diseases: data from the Spanish rare diseases patient registry
Juan Benito-Lozano, Blanca López-Villalba, Greta Arias-Merino, et al.
Orphanet Journal of Rare Diseases (2022) Vol. 17, Iss. 1
Open Access | Times Cited: 24
Juan Benito-Lozano, Blanca López-Villalba, Greta Arias-Merino, et al.
Orphanet Journal of Rare Diseases (2022) Vol. 17, Iss. 1
Open Access | Times Cited: 24
Showing 24 citing articles:
Rare diseases: challenges and opportunities for research and public health
Domenica Taruscio, William A. Gahl
Nature Reviews Disease Primers (2024) Vol. 10, Iss. 1
Closed Access | Times Cited: 21
Domenica Taruscio, William A. Gahl
Nature Reviews Disease Primers (2024) Vol. 10, Iss. 1
Closed Access | Times Cited: 21
Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey
Fatoumata Faye, Claudia Crocione, Roberta Anido de Peña, et al.
European Journal of Human Genetics (2024) Vol. 32, Iss. 9, pp. 1116-1126
Open Access | Times Cited: 18
Fatoumata Faye, Claudia Crocione, Roberta Anido de Peña, et al.
European Journal of Human Genetics (2024) Vol. 32, Iss. 9, pp. 1116-1126
Open Access | Times Cited: 18
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
Nature Genetics (2024) Vol. 56, Iss. 8, pp. 1644-1653
Open Access | Times Cited: 10
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
Nature Genetics (2024) Vol. 56, Iss. 8, pp. 1644-1653
Open Access | Times Cited: 10
Psychosocial impact at the time of a rare disease diagnosis
Juan Benito-Lozano, Greta Arias-Merino, Mario Gómez-Martínez, et al.
PLoS ONE (2023) Vol. 18, Iss. 7, pp. e0288875-e0288875
Open Access | Times Cited: 15
Juan Benito-Lozano, Greta Arias-Merino, Mario Gómez-Martínez, et al.
PLoS ONE (2023) Vol. 18, Iss. 7, pp. e0288875-e0288875
Open Access | Times Cited: 15
Assessing DxGPT: Diagnosing Rare Diseases with Various Large Language Models
Juanjo do Olmo, Javier Logroño, Carlos Mascías, et al.
medRxiv (Cold Spring Harbor Laboratory) (2024)
Open Access | Times Cited: 5
Juanjo do Olmo, Javier Logroño, Carlos Mascías, et al.
medRxiv (Cold Spring Harbor Laboratory) (2024)
Open Access | Times Cited: 5
A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions
Simone Baldovino, Savino Sciascia, Claudio Carta, et al.
Frontiers in Public Health (2025) Vol. 13
Open Access
Simone Baldovino, Savino Sciascia, Claudio Carta, et al.
Frontiers in Public Health (2025) Vol. 13
Open Access
Identifying the Diagnostic Challenges and Indicators of Orthostatic Tremor: Patient Perspectives
Wietske A. Babeliowsky, Kiel Woodward, Bart Swinnen, et al.
Movement Disorders Clinical Practice (2025)
Open Access
Wietske A. Babeliowsky, Kiel Woodward, Bart Swinnen, et al.
Movement Disorders Clinical Practice (2025)
Open Access
Epiphyseal osteosarcoma with serial changes of pretreatment imaging findings: a case report
Kotaro Watanabe, Hirokazu Shimizu, Tamotsu Soma, et al.
World Journal of Surgical Oncology (2025) Vol. 23, Iss. 1
Open Access
Kotaro Watanabe, Hirokazu Shimizu, Tamotsu Soma, et al.
World Journal of Surgical Oncology (2025) Vol. 23, Iss. 1
Open Access
¿Hay nuevas esperanzas para las enfermedades raras?
Á. Hermida Ameijeiras
Medicina Clínica (2025) Vol. 164, Iss. 12, pp. 106949-106949
Closed Access
Á. Hermida Ameijeiras
Medicina Clínica (2025) Vol. 164, Iss. 12, pp. 106949-106949
Closed Access
Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
medRxiv (Cold Spring Harbor Laboratory) (2023)
Open Access | Times Cited: 10
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
medRxiv (Cold Spring Harbor Laboratory) (2023)
Open Access | Times Cited: 10
Parental experiences and needs of caring for a child with 22q11.2 deletion syndrome
Dariusz Walkowiak, Jan Domaradzki
Orphanet Journal of Rare Diseases (2023) Vol. 18, Iss. 1
Open Access | Times Cited: 7
Dariusz Walkowiak, Jan Domaradzki
Orphanet Journal of Rare Diseases (2023) Vol. 18, Iss. 1
Open Access | Times Cited: 7
Drosophila as a Model for Human Disease: Insights into Rare and Ultra-Rare Diseases
Sergio Casas‐Tintó
Insects (2024) Vol. 15, Iss. 11, pp. 870-870
Open Access | Times Cited: 2
Sergio Casas‐Tintó
Insects (2024) Vol. 15, Iss. 11, pp. 870-870
Open Access | Times Cited: 2
Treatment access and satisfaction on disease-modifying therapies of neuromyelitis optica spectrum disorder patients in China: a cross-sectional survey
Yue Yu, Mingkang Zhong, Chao Quan, et al.
Therapeutic Advances in Neurological Disorders (2024) Vol. 17
Open Access | Times Cited: 1
Yue Yu, Mingkang Zhong, Chao Quan, et al.
Therapeutic Advances in Neurological Disorders (2024) Vol. 17
Open Access | Times Cited: 1
Aspectos clínicos e diagnósticos, qualidade de vida, utilidade, adesão terapêutica e custos para angioedema hereditário associado à deficiência de C1-esterase
Alex De Cerqueira Silveira Figueiredo, Angelina Xavier Acosta, Régis A. Campos, et al.
HU Revista (2024) Vol. 49, pp. 1-8
Open Access | Times Cited: 1
Alex De Cerqueira Silveira Figueiredo, Angelina Xavier Acosta, Régis A. Campos, et al.
HU Revista (2024) Vol. 49, pp. 1-8
Open Access | Times Cited: 1
Diagnostic Odyssey of More than 1000 Patients with Inherited Retinal Diseases
Malena Daich Varela, Patricio G. Schlottmann, José D. Luna, et al.
Ophthalmology (2023) Vol. 131, Iss. 2, pp. 251-253
Open Access | Times Cited: 3
Malena Daich Varela, Patricio G. Schlottmann, José D. Luna, et al.
Ophthalmology (2023) Vol. 131, Iss. 2, pp. 251-253
Open Access | Times Cited: 3
The Tuscany Regional Network for rare diseases: from European Reference Networks’ experience to registry based organisation and management model for rare diseases
Federica Pieroni, Sonia Marrucci, Linda Di Pietro, et al.
Orphanet Journal of Rare Diseases (2023) Vol. 18, Iss. 1
Open Access | Times Cited: 2
Federica Pieroni, Sonia Marrucci, Linda Di Pietro, et al.
Orphanet Journal of Rare Diseases (2023) Vol. 18, Iss. 1
Open Access | Times Cited: 2
Time to diagnosis and determinants of diagnosis delays of people living with a rare disease: a Rare Barometer retrospective patient survey
Jessie Dubief, Fatoumata Faye, Claudia Crocione, et al.
Research Square (Research Square) (2024)
Open Access
Jessie Dubief, Fatoumata Faye, Claudia Crocione, et al.
Research Square (Research Square) (2024)
Open Access
Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry
Alberto Lopez-de la Rosa, Juan José Tellería Orriols, Manuel Posada de la Paz, et al.
Orphanet Journal of Rare Diseases (2024) Vol. 19, Iss. 1
Open Access
Alberto Lopez-de la Rosa, Juan José Tellería Orriols, Manuel Posada de la Paz, et al.
Orphanet Journal of Rare Diseases (2024) Vol. 19, Iss. 1
Open Access
Computer-assisted patient identification tool in inborn errors of metabolism – potential for rare disease patient registry and big data analysis
Chloe Miu Mak, Pauline Woo, Felicite Enyu Song, et al.
Clinica Chimica Acta (2024) Vol. 561, pp. 119811-119811
Closed Access
Chloe Miu Mak, Pauline Woo, Felicite Enyu Song, et al.
Clinica Chimica Acta (2024) Vol. 561, pp. 119811-119811
Closed Access
Navigating the Unique Challenges of Caregiving for Children with Rare Diseases: Are the Care Experiences of All Caregivers the Same? A Focus on Life-Limiting Rare Diseases
Dariusz Walkowiak, Jan Domaradzki, Renata Mozrzymas, et al.
Journal of Clinical Medicine (2024) Vol. 13, Iss. 15, pp. 4510-4510
Open Access
Dariusz Walkowiak, Jan Domaradzki, Renata Mozrzymas, et al.
Journal of Clinical Medicine (2024) Vol. 13, Iss. 15, pp. 4510-4510
Open Access
Would Artificial Intelligence Improve the Quality of Care of Patients With Rare Diseases?
Hana J Abukhadijah, Abdulqadir J. Nashwan
Global Journal on Quality and Safety in Healthcare (2024) Vol. 7, Iss. 4, pp. 149-150
Open Access
Hana J Abukhadijah, Abdulqadir J. Nashwan
Global Journal on Quality and Safety in Healthcare (2024) Vol. 7, Iss. 4, pp. 149-150
Open Access
Deciphering the Complexity of FSHD: A Multimodal Approach as a Model for Rare Disorders
Domenica Megalizzi, Giulia Trastulli, Luca Colantoni, et al.
International Journal of Molecular Sciences (2024) Vol. 25, Iss. 20, pp. 10949-10949
Open Access
Domenica Megalizzi, Giulia Trastulli, Luca Colantoni, et al.
International Journal of Molecular Sciences (2024) Vol. 25, Iss. 20, pp. 10949-10949
Open Access
Rising to the Challenge of Rare Diagnoses
Kevin Venus, Janice L. Kwan, David Frost
Journal of General Internal Medicine (2024)
Open Access
Kevin Venus, Janice L. Kwan, David Frost
Journal of General Internal Medicine (2024)
Open Access
Rare Genetic Diseases in Behavioral Health: A Comprehensive Review of Therapeutic Strategies and Diagnostic Delay for Childhood Through Adulthood With Paired Economic Impact Analysis
Sheldon R. Garrison, Isaac J. Siegel, Christopher R. Takala, et al.
Research Square (Research Square) (2024)
Open Access
Sheldon R. Garrison, Isaac J. Siegel, Christopher R. Takala, et al.
Research Square (Research Square) (2024)
Open Access
Characterization of patients treated at a rare disease referral service: a descriptive study, 2016-2021
Endrigo Antônio de Carvalho, Roberto Del Claro Hopker, Gustavo Henrique Pedroso, et al.
Epidemiologia e Serviços de Saúde (2024) Vol. 33
Open Access
Endrigo Antônio de Carvalho, Roberto Del Claro Hopker, Gustavo Henrique Pedroso, et al.
Epidemiologia e Serviços de Saúde (2024) Vol. 33
Open Access