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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:

Deep intronic mutations and human disease
Rita Vaz‐Drago, Noélia Custódio, Maria Carmo‐Fonseca
Human Genetics (2017) Vol. 136, Iss. 9, pp. 1093-1111
Closed Access | Times Cited: 380

Showing 1-25 of 380 citing articles:

Splicing mutations in human genetic disorders: examples, detection, and confirmation
Anna Abramowicz, Monika Goś
Journal of Applied Genetics (2018) Vol. 59, Iss. 3, pp. 253-268
Open Access | Times Cited: 538
Genomic Analysis in the Age of Human Genome Sequencing
Tuuli Lappalainen, Alexandra J. Scott, Margot Brandt, et al.
Cell (2019) Vol. 177, Iss. 1, pp. 70-84
Open Access | Times Cited: 267
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease
Hernán Gonorazky, Sergey Naumenko, Arun Ramani, et al.
The American Journal of Human Genetics (2019) Vol. 104, Iss. 3, pp. 466-483
Open Access | Times Cited: 208
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease
Hernán Gonorazky, Sergey Naumenko, Arun Ramani, et al.
The American Journal of Human Genetics (2019) Vol. 104, Iss. 5, pp. 1007-1007
Open Access | Times Cited: 192
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
Riccardo Sangermano, Alejandro Garanto, Mubeen Khan, et al.
Genetics in Medicine (2019) Vol. 21, Iss. 8, pp. 1751-1760
Open Access | Times Cited: 175
Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Catherine Rehder, Lora Jh Bean, David Bick, et al.
Genetics in Medicine (2021) Vol. 23, Iss. 8, pp. 1399-1415
Open Access | Times Cited: 105
Systematically developing a registry of splice-site creating variants utilizing massive publicly available transcriptome sequence data
Naoko Iida, Ai Okada, Yoshihisa Kobayashi, et al.
Nature Communications (2025) Vol. 16, Iss. 1
Open Access | Times Cited: 2
Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases
David Bick, Marilyn C. Jones, Stacie L. Taylor, et al.
Journal of Medical Genetics (2019) Vol. 56, Iss. 12, pp. 783-791
Open Access | Times Cited: 124
Realizing the significance of noncoding functionality in clinical genomics
Brian Gloss, Marcel E. Dinger
Experimental & Molecular Medicine (2018) Vol. 50, Iss. 8, pp. 1-8
Open Access | Times Cited: 104
Pathogenicity and selective constraint on variation near splice sites
Jenny Lord, Giuseppe Gallone, Patrick Short, et al.
Genome Research (2018) Vol. 29, Iss. 2, pp. 159-170
Open Access | Times Cited: 84
Intronic CNVs and gene expression variation in human populations
Maria Rigau, David Juan, Alfonso Valencia, et al.
PLoS Genetics (2019) Vol. 15, Iss. 1, pp. e1007902-e1007902
Open Access | Times Cited: 81
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics
Sateesh Maddirevula, Hiroyuki Kuwahara, Nour Ewida, et al.
Genome biology (2020) Vol. 21, Iss. 1
Open Access | Times Cited: 74
Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes
Carolina Courage, Karen Oliver, Eon Joo Park, et al.
The American Journal of Human Genetics (2021) Vol. 108, Iss. 4, pp. 722-738
Open Access | Times Cited: 65
Antisense Oligonucleotide-Mediated Exon-skipping Therapies: Precision Medicine Spreading from Duchenne Muscular Dystrophy

JMA Journal (2021) Vol. 4, Iss. 3, pp. 232-240
Open Access | Times Cited: 61
Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives
Matthis Synofzik, Willeke M. C. van Roon‐Mom, Georg Marckmann, et al.
Nucleic Acid Therapeutics (2021) Vol. 32, Iss. 2, pp. 83-94
Open Access | Times Cited: 57
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: 57
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
Cas9/gRNA targeted excision of cystic fibrosis-causing deep-intronic splicing mutations restores normal splicing of CFTR mRNA
David J. Sanz, Jennifer A. Hollywood, Martina Scallan, et al.
PLoS ONE (2017) Vol. 12, Iss. 9, pp. e0184009-e0184009
Open Access | Times Cited: 83
Large-scale meta-analysis of mutations identified in panels of breast/ovarian cancer-related genes — Providing evidence of cancer predisposition genes
Malwina Suszyńska, Katarzyna Klonowska, Anna J. Jasinska, et al.
Gynecologic Oncology (2019) Vol. 153, Iss. 2, pp. 452-462
Open Access | Times Cited: 67
Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome–Associated Cardiomyopathy
Ulrich Hanses, Mandy Kleinsorge, Lennart Roos, et al.
Circulation (2020) Vol. 142, Iss. 11, pp. 1059-1076
Open Access | Times Cited: 66
The diagnosis of inborn errors of metabolism by an integrative “multi‐omics” approach: A perspective encompassing genomics, transcriptomics, and proteomics
Sarah L. Stenton, Laura S. Kremer, Robert Kopajtich, et al.
Journal of Inherited Metabolic Disease (2019) Vol. 43, Iss. 1, pp. 25-35
Closed Access | Times Cited: 61
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress
Ariane Kröll‐Hermi, Frédéric Ebstein, Corinne Stoetzel, et al.
EMBO Molecular Medicine (2020) Vol. 12, Iss. 7
Open Access | Times Cited: 53
Comprehensive characterisation of intronic mis-splicing mutations in human cancers
Hyunchul Jung, Kang Seon Lee, Jung Kyoon Choi
Oncogene (2021) Vol. 40, Iss. 7, pp. 1347-1361
Open Access | Times Cited: 44
Ultra-deep sequencing validates safety of CRISPR/Cas9 genome editing in human hematopoietic stem and progenitor cells
M. Kyle Cromer, Valentin Barsan, Erich Jaeger, et al.
Nature Communications (2022) Vol. 13, Iss. 1
Open Access | Times Cited: 38
A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project
Alexander J. M. Blakes, Htoo A. Wai, Ian Davies, et al.
Genome Medicine (2022) Vol. 14, Iss. 1
Open Access | Times Cited: 32
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