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:

Genetic Modifiers and Rare Mendelian Disease
K. M. Tahsin Hassan Rahit, Maja Tarailo‐Graovac
Genes (2020) Vol. 11, Iss. 3, pp. 239-239
Open Access | Times Cited: 139

Showing 1-25 of 139 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
Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts
Rebecca Kingdom, Caroline F. Wright
Frontiers in Genetics (2022) Vol. 13
Open Access | Times Cited: 144
Implementing Whole Genome Sequencing (WGS) in Clinical Practice: Advantages, Challenges, and Future Perspectives
Petar Brlek, Luka Bulić, Matea Bračić, et al.
Cells (2024) Vol. 13, Iss. 6, pp. 504-504
Open Access | Times Cited: 34
Pleiotropy, epistasis and the genetic architecture of quantitative traits
Trudy F. C. Mackay, Robert R. H. Anholt
Nature Reviews Genetics (2024) Vol. 25, Iss. 9, pp. 639-657
Closed Access | Times Cited: 28
Opportunities and challenges for the computational interpretation of rare variation in clinically important genes
Gregory McInnes, Andrew G. Sharo, Megan L. Koleske, et al.
The American Journal of Human Genetics (2021) Vol. 108, Iss. 4, pp. 535-548
Open Access | Times Cited: 60
Rare genetic variants in genes and loci linked to dominant monogenic developmental disorders cause milder related phenotypes in the general population
Rebecca Kingdom, Marcus A. Tuke, Andrew R. Wood, et al.
The American Journal of Human Genetics (2022) Vol. 109, Iss. 7, pp. 1308-1316
Open Access | Times Cited: 49
The Niemann-Pick type diseases – A synopsis of inborn errors in sphingolipid and cholesterol metabolism
Frank W. Pfrieger
Progress in Lipid Research (2023) Vol. 90, pp. 101225-101225
Open Access | Times Cited: 28
Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment
Mario Cesare Nurchis, Gerardo Altamura, Maria Teresa Riccardi, et al.
Archives of Public Health (2023) Vol. 81, Iss. 1
Open Access | Times Cited: 25
Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases
Faidon‐Nikolaos Tilemis, Nikolaos M. Marinakis, Danai Veltra, et al.
Genes (2023) Vol. 14, Iss. 7, pp. 1490-1490
Open Access | Times Cited: 23
The common HAQ STING allele prevents clinical penetrance of COPA syndrome
Noa Simchoni, Shogo Koide, Maryel Likhite, et al.
The Journal of Experimental Medicine (2025) Vol. 222, Iss. 4
Closed 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
Lafora progressive myoclonus epilepsy: Disease mechanism and therapeutic attempts
Rashmi Parihar, Subramaniam Ganesh
Journal of Biosciences (2024) Vol. 49, Iss. 1
Closed Access | Times Cited: 7
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
GPAD: a natural language processing-based application to extract the gene-disease association discovery information from OMIM
K. M. Tahsin Hassan Rahit, Vladimir Avramović, Jessica X. Chong, et al.
BMC Bioinformatics (2024) Vol. 25, Iss. 1
Open Access | Times Cited: 6
Development of multiplexed orthogonal base editor (MOBE) systems
Quinn T. Cowan, Sifeng Gu, Wanjun Gu, et al.
Nature Biotechnology (2024)
Closed Access | Times Cited: 6
Genetically transitional disease: a new concept in genomic medicine
Qingping Yao, Peter D. Gorevic, Bo Shen, et al.
Trends in Genetics (2022) Vol. 39, Iss. 2, pp. 98-108
Closed Access | Times Cited: 28
Diagnostic approach in adult-onset neurometabolic diseases
Gorka Fernández‐Eulate, Christophe Carreau, Jean‐François Benoist, et al.
Journal of Neurology Neurosurgery & Psychiatry (2022) Vol. 93, Iss. 4, pp. 413-421
Open Access | Times Cited: 23
A knowledge graph approach to predict and interpret disease-causing gene interactions
Alexandre Renaux, Chloé Terwagne, Michael Cochez, et al.
BMC Bioinformatics (2023) Vol. 24, Iss. 1
Open Access | Times Cited: 13
A Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal Disease
Beau J. Fenner, S. Scott Whitmore, Adam P. DeLuca, et al.
Ophthalmology (2024) Vol. 131, Iss. 8, pp. 985-997
Open Access | Times Cited: 5
Brain function in classic galactosemia, a galactosemia network (GalNet) members review
Bianca Panis, E. Naomi Vos, Ivo Barić, et al.
Frontiers in Genetics (2024) Vol. 15
Open Access | Times Cited: 5
Polymorphisms in genes related to oxidative stress and inflammation: Emerging links with the pathogenesis and severity of Cerebral Cavernous Malformation disease
Andrea Perrelli, Saverio Francesco Retta
Free Radical Biology and Medicine (2021) Vol. 172, pp. 403-417
Closed Access | Times Cited: 31
DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research
Julia Foreman, Simon Brent, Daniel Perrett, et al.
Human Mutation (2022)
Open Access | Times Cited: 19
DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data
Julia Foreman, Daniel Perrett, Erica Mazaika, et al.
Annual Review of Genomics and Human Genetics (2023) Vol. 24, Iss. 1, pp. 151-176
Open Access | Times Cited: 12
Faster and more accurate pathogenic combination predictions with VarCoPP2.0
Nassim Versbraegen, Barbara Gravel, Charlotte Nachtegael, et al.
BMC Bioinformatics (2023) Vol. 24, Iss. 1
Open Access | Times Cited: 11
Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1
Nicole Y. Farhat, Derek Alexander, K. McKee, et al.
International Journal of Molecular Sciences (2024) Vol. 25, Iss. 8, pp. 4217-4217
Open Access | Times Cited: 4
Page 1 - Next Page

Scroll to top