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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:

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: 56

Showing 1-25 of 56 citing articles:

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Steven Laurie, Iris te Paske, Nienke van Os, et al.
Nature Medicine (2025)
Open Access | Times Cited: 2
Mitochondrial proteome research: the road ahead
Zakery N. Baker, Patrick Forny, David J. Pagliarini
Nature Reviews Molecular Cell Biology (2023) Vol. 25, Iss. 1, pp. 65-82
Open Access | Times Cited: 22
Diagnostic yield from prenatal exome sequencing for non‐immune hydrops fetalis: A systematic review and meta‐analysis
Huda B. Al‐Kouatly, Kavya Shivashankar, Matthew H. Mossayebi, et al.
Clinical Genetics (2023) Vol. 103, Iss. 5, pp. 503-512
Open Access | Times Cited: 14
Integration of genetic testing into diagnostic pathways for cardiomyopathies: a clinical consensus statement by the ESC Council on Cardiovascular Genomics
Perry Elliott, Heribert Schunkert, Antoine Bondue, et al.
European Heart Journal (2024)
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
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases
Clara D.M. van Karnebeek, Anne O’Donnell‐Luria, Gareth Baynam, et al.
Orphanet Journal of Rare Diseases (2024) Vol. 19, Iss. 1
Open Access | Times Cited: 4
Portuguese Society of Ophthalmology and Portuguese Society of Human Genetics Joint Clinical Practice Guidelines for Genetic Testing in Inherited Retinal Dystrophies
João Pedro Marques, Célia Azevedo Soares, Ana Luísa Carvalho, et al.
Clinical Genetics (2025)
Open Access
Chromosome aberrations and autoimmunity: Immune-mediated diseases associated with 18p deletion and other chromosomal aberrations
Camilla Cirone Papa Giannotti, Renan Rodrigues Neves Ribeiro do Nascimento, Maria Teresa Terreri, et al.
Autoimmunity Reviews (2025) Vol. 24, Iss. 3, pp. 103740-103740
Closed Access
Gene prioritisation for enhancing molecular diagnosis in rare skeletal muscle disease cohort
Victoria Lillback, Gaber Bergant, Maria Francesca Di Feo, et al.
Journal of Medical Genetics (2025) Vol. 62, Iss. 5, pp. 350-357
Closed Access
Genetic and reproductive strategies to prevent mitochondrial diseases
Noemi Castelluccio, Katharina Späth, Danyang Li, et al.
Human Reproduction Update (2025)
Closed Access
Heterozygous deletion of 10q24.31-q24.33– a new syndrome associated with multiple congenital anomalies: case report and literature review
Anastasiia A. Buianova, Yulia S. Lashkova, T. Kulichenko, et al.
Neurological Research and Practice (2025) Vol. 7, Iss. 1
Open Access
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants
Saskia B. Wortmann, René G. Feichtinger, Lucia Abela, et al.
Neurology Genetics (2024) Vol. 10, Iss. 2
Open 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
Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline
Joohyun Park, Marc Sturm, Olga Seibel-Kelemen, et al.
Genes (2024) Vol. 15, Iss. 1, pp. 136-136
Open Access | Times Cited: 2
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: 2
The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses.
Rocío Rius, Alison G. Compton, Naomi L. Baker, et al.
Genetics in Medicine (2024), pp. 101271-101271
Closed Access | Times Cited: 2
Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism
Alejandro Soriano‐Sexto, Diana Gallego, Fátima Leal, et al.
International Journal of Molecular Sciences (2022) Vol. 23, Iss. 21, pp. 12850-12850
Open Access | Times Cited: 9
Long-read sequencing improves diagnostic rate in neuromuscular disorders.
Rafaela Owusu, Marco Savarese
PubMed (2023) Vol. 42, Iss. 4, pp. 123-128
Closed Access | Times Cited: 5
Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing)
Elise A. Ferreira, Mark J. Buijs, Robin Wijngaard, et al.
Frontiers in Neurology (2023) Vol. 14
Open Access | Times Cited: 4
Next generation sequencing (NGS)-based approach to diagnosing Algerian patients with suspected inborn errors of immunity (IEIs)
Xiao Peng, Moudjahed Saleh Al-Ddafari, Andrés Caballero-Oteyza, et al.
Clinical Immunology (2023) Vol. 256, pp. 109758-109758
Closed Access | Times Cited: 4
Inborn errors of immunity: A field without frontiers
Giorgia Bucciol, Selket Delafontaine, Isabelle Meyts, et al.
Immunological Reviews (2023) Vol. 322, Iss. 1, pp. 15-27
Open Access | Times Cited: 4
Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality
Firas Abu Hanna, Yoav Zehavi, Eran Cohen‐Barak, et al.
Orphanet Journal of Rare Diseases (2024) Vol. 19, Iss. 1
Open Access | Times Cited: 1
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations
Daniz Kooshavar, David J. Amor, Kirsten Boggs, et al.
Brain Communications (2024) Vol. 6, Iss. 2
Open Access | Times Cited: 1
Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children
Oliver Heath, Emma Hammerl, Anna Spitzinger, et al.
(2024)
Open Access | Times Cited: 1
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