OpenAlex Citation Counts

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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:

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
Alistair T. Pagnamenta, Carlos Camps, Edoardo Giacopuzzi, et al.
Genome Medicine (2023) Vol. 15, Iss. 1
Open Access | Times Cited: 31

Showing 1-25 of 31 citing articles:

A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability
Mirella Vinci, Simone Treccarichi, Rosanna Galati Rando, et al.
Scientific Reports (2024) Vol. 14, Iss. 1
Open Access | Times Cited: 11

An Overview of Advances in Rare Cancer Diagnosis and Treatment
Grania Christyani, Matthew Carswell, Sisi Qin, et al.
International Journal of Molecular Sciences (2024) Vol. 25, Iss. 2, pp. 1201-1201
Open Access | Times Cited: 9

Parental Engagement in Identifying Information Needs After Newborn Screening for Families of Infants with Suspected Athymia
Evey Howley, Maarja Soomann, Alexandra Y. Kreins
Journal of Clinical Immunology (2024) Vol. 44, Iss. 3
Open Access | Times Cited: 6

Lessons and pitfalls of whole genome sequencing
Christopher J. Record, Mary M. Reilly
Practical Neurology (2024) Vol. 24, Iss. 4, pp. 263-274
Open Access | Times Cited: 6

Ex vivo T-lymphopoiesis assays assisting corrective treatment choice for genetically undefined T-lymphocytopaenia
Zainab Golwala, Helena Spiridou Goncalves, Ranjita Devi Moirangthem, et al.
Clinical Immunology (2025), pp. 110453-110453
Open Access

Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort
Sek Won Kong, In‐Hee Lee, Lauren V. Collen, et al.
npj Genomic Medicine (2025) Vol. 10, Iss. 1
Open Access

Lessons from national biobank projects utilizing whole-genome sequencing for population-scale genomics
Hyeji Lee, Wan Kim, Nahyeon Kwon, et al.
Genomics & Informatics (2025) Vol. 23, Iss. 1
Open Access

Rare pathogenic structural variants show potential to enhance prostate cancer germline testing for African men
Tingting Gong, Jue Jiang, Korawich Uthayopas, et al.
Nature Communications (2025) Vol. 16, Iss. 1
Open Access

Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing
David R. Murdock, Dongchuan Guo, John S. DePaolo, et al.
npj Genomic Medicine (2025) Vol. 10, Iss. 1
Open Access

Mosaic deletions detected by genome sequencing in two families
Naomi Tsuchida, Yuri Uchiyama, Kohei Hamanaka, et al.
Journal of Human Genetics (2025)
Closed Access

Current and future diagnostics of congenital heart disease (CHD)
Marc‐Phillip Hitz, Gregor Dombrowsky, Н А Мельник, et al.
Medizinische Genetik (2025) Vol. 37, Iss. 2, pp. 95-102
Closed Access

Cardiac arrhythmias and genetics – current stage
Schulze-Bahr, Sven Dittmann, Janis Kerkering
Medizinische Genetik (2025) Vol. 37, Iss. 2, pp. 125-136
Closed Access

Whole-genome sequencing susses out rare diseases
Amanda B. Keener
Nature (2025)
Closed Access

The Rapidly Evolving Regenerative Medicine Ecosystem: Implications for Infants and Children
Thomas F. Miller, Kanwaljit Singh, N. J. Montgomery, et al.
(2025), pp. 133-147
Closed Access

18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies
Christina Kiel, Fabiola Biasella, Heidi Stöhr, et al.
Scientific Reports (2024) Vol. 14, Iss. 1
Open Access | Times Cited: 3

The Role of Genetic Testing in Adult CKD
N. Knoers, Albertien M. van Eerde
Journal of the American Society of Nephrology (2024) Vol. 35, Iss. 8, pp. 1107-1118
Closed Access | Times Cited: 2

European Society of Immunodeficiencies guidelines for the management of patients with congenital athymia
Alexandra Y. Kreins, Fatima Dhalla, Aisling M. Flinn, et al.
Journal of Allergy and Clinical Immunology (2024)
Open Access | Times Cited: 2

Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants
Gaby Schobers, Maartje Pennings, Juliette de Vries, et al.
European Journal of Human Genetics (2024)
Closed Access | Times Cited: 2

Expanding Genotype–Phenotype Correlation of CLCNKA and CLCNKB Variants Linked to Hearing Loss
Yejin Yun, Sang Soo Park, Soyoung Lee, et al.
International Journal of Molecular Sciences (2023) Vol. 24, Iss. 23, pp. 17077-17077
Open Access | Times Cited: 4

Molecular mechanisms of human overgrowth and use of omics in its diagnostics: chances and challenges
Dirk Prawitt, Thomas Eggermann
Frontiers in Genetics (2024) Vol. 15
Open Access | Times Cited: 1

Targeted RNAseq from patients’ urinary cells to validate pathogenic noncoding variants in autosomal dominant polycystic kidney disease genes: a proof of concept
Guillaume Dorval, Gérald Le Gac, Vincent Morinière, et al.
Kidney International (2024) Vol. 106, Iss. 3, pp. 532-535
Closed Access | Times Cited: 1

Potential clinical applications of advanced genomic analysis in cerebral palsy
Sara A. Lewis, Andrew Ruttenberg, Tuğçe Iyiyol, et al.
EBioMedicine (2024) Vol. 106, pp. 105229-105229
Open Access | Times Cited: 1

Ex vivo T-lymphopoiesis assays assisting corrective treatment choice for genetically undefined T- lymphocytopaenia
Zainab Golwala, Helena Spiridou Goncalves, Ranjita Devi Moirangthem, et al.
Research Square (Research Square) (2024)
Closed Access | Times Cited: 1

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