Open Access Helper

OpenAlex Citation Counts

OpenAlex Citations Logo

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:

Genome sequencing and implications for rare disorders
Jennifer E. Posey
Orphanet Journal of Rare Diseases (2019) Vol. 14, Iss. 1
Open Access | Times Cited: 96

Showing 1-25 of 96 citing articles:

Drug Repurposing for Rare Diseases
Helen I. Roessler, Nine Knoers, Mieke M. van Haelst, et al.
Trends in Pharmacological Sciences (2021) Vol. 42, Iss. 4, pp. 255-267
Open Access | Times Cited: 183
Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development
Chrysanthi Kouri, Grit Sommer, Idoia Martinez de la Piscina, et al.
EBioMedicine (2024) Vol. 99, pp. 104941-104941
Open Access | Times Cited: 16
Advance in peptide-based drug development: delivery platforms, therapeutics and vaccines
Wen‐Jing Xiao, Wenjie Jiang, Zheng Chen, et al.
Signal Transduction and Targeted Therapy (2025) Vol. 10, Iss. 1
Open Access | Times Cited: 2
Next Generation Sequencing and Bioinformatics Analysis of Family Genetic Inheritance
Aquillah M. Kanzi, James Emmanuel San, Benjamin Chimukangara, et al.
Frontiers in Genetics (2020) Vol. 11
Open Access | Times Cited: 84
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
Tadahiro Mitani, Sedat Işıkay, Alper Gezdirici, et al.
The American Journal of Human Genetics (2021) Vol. 108, Iss. 10, pp. 1981-2005
Open Access | Times Cited: 63
Current and Emerging Clinical Treatment in Mitochondrial Disease
Rory J. Tinker, Albert Z. Lim, Renae J. Stefanetti, et al.
Molecular Diagnosis & Therapy (2021) Vol. 25, Iss. 2, pp. 181-206
Open Access | Times Cited: 59
Cost-Effectiveness of Whole-Genome vs Whole-Exome Sequencing Among Children With Suspected Genetic Disorders
Mario Cesare Nurchis, Francesca Clementina Radio, Luca Salmasi, et al.
JAMA Network Open (2024) Vol. 7, Iss. 1, pp. e2353514-e2353514
Open Access | Times Cited: 12
Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing
Jeong‐Min Kim, Hye-Won Cho, Dong Mun Shin, et al.
Human Genomics (2025) Vol. 19, Iss. 1
Open Access | Times Cited: 1
Improving diagnostics of rare genetic diseases with NGS approaches
Mateja Vinkšel, Karin Writzl, Aleš Maver, et al.
Journal of Community Genetics (2021) Vol. 12, Iss. 2, pp. 247-256
Open Access | Times Cited: 53
The diagnostic journey of genetically defined neurodevelopmental disorders
Juliana Simon, Carly Hyde, Vidya Saravanapandian, et al.
Journal of Neurodevelopmental Disorders (2022) Vol. 14, Iss. 1
Open Access | Times Cited: 32
Artificial intelligence and database for NGS-based diagnosis in rare disease
Yee Wen Choon, Yee Fan Choon, Nurul Athirah Nasarudin, et al.
Frontiers in Genetics (2024) Vol. 14
Open Access | Times Cited: 8
Atypical Diabetes: What Have We Learned and What Does the Future Hold?
Stephen Stone, Ashok Balasubramanyam, Jennifer E. Posey
Diabetes Care (2024) Vol. 47, Iss. 5, pp. 770-781
Open Access | Times Cited: 6
Orphan Medicine Incentives: How to Address the Unmet Needs of Rare Disease Patients by Optimizing the European Orphan Medicinal Product Landscape Guiding Principles and Policy Proposals by the European Expert Group for Orphan Drug Incentives (OD Expert Group)
Annemieke Aartsma‐Rus, Marc Dooms, Yann Le Cam
Frontiers in Pharmacology (2021) Vol. 12
Open Access | Times Cited: 38
Complex Modes of Inheritance in Hereditary Red Blood Cell Disorders: A Case Series Study of 155 Patients
Immacolata Andolfo, Stefania Martone, Barbara Eleni Rosato, et al.
Genes (2021) Vol. 12, Iss. 7, pp. 958-958
Open Access | Times Cited: 34
Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards
Jevin Parmar, Nigel G. Laing, Marina Kennerson, et al.
Journal of Neurology Neurosurgery & Psychiatry (2024) Vol. 95, Iss. 11, pp. 992-1001
Open Access | Times Cited: 5
A scoping review and proposed workflow for multi-omic rare disease research
Katie Kerr, Helen McAneney, Laura J. Smyth, et al.
Orphanet Journal of Rare Diseases (2020) Vol. 15, Iss. 1
Open Access | Times Cited: 37
The evolving genetic landscape of congenital disorders of glycosylation
Matthew P. Wilson, Gert Matthijs
Biochimica et Biophysica Acta (BBA) - General Subjects (2021) Vol. 1865, Iss. 11, pp. 129976-129976
Open Access | Times Cited: 29
Emerging Role of Clinical Genetics in CKD
Prasad Devarajan, Glenn M. Chertow, Katalin Suszták, et al.
Kidney Medicine (2022) Vol. 4, Iss. 4, pp. 100435-100435
Open Access | Times Cited: 21
Benchmark of computational methods to detect digenism in sequencing data
Marie‐Sophie C. Ogloblinsky, Donald F. Conrad, Anaı̈s Baudot, et al.
European Journal of Human Genetics (2025)
Closed Access
Genetic Counseling and Genome Sequencing in Pediatric Rare Disease
Alison M. Elliott
Cold Spring Harbor Perspectives in Medicine (2019) Vol. 10, Iss. 3, pp. a036632-a036632
Open Access | Times Cited: 32
A decade of next‐generation sequencing in genodermatoses: the impact on gene discovery and clinical diagnostics*
Frank Po‐Chao Chiu, Brent J. Doolan, John A. McGrath, et al.
British Journal of Dermatology (2020) Vol. 184, Iss. 4, pp. 606-616
Open Access | Times Cited: 32
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases
Shilpa N. Kobren, Dustin Baldridge, Matt Velinder, et al.
Genetics in Medicine (2021) Vol. 23, Iss. 6, pp. 1075-1085
Open Access | Times Cited: 27
Revolutionizing Genomics: Exploring the Potential of Next-Generation Sequencing
Ghloamareza Abdi, Maryam Abbasi Tarighat, Mukul Jain, et al.
Advances in Bioinformatics (2024), pp. 1-33
Closed Access | Times Cited: 3
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
Diagnosis of Primary Mitochondrial Diseases
Salman Bhai, Michio Hirano
Muscle & Nerve (2025)
Closed Access
Page 1 - Next Page

Scroll to top