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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:

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
D.N. Cooper, Michael Krawczak, Constantin Polychronakos, et al.
Human Genetics (2013) Vol. 132, Iss. 10, pp. 1077-1130
Open Access | Times Cited: 609

Showing 26-50 of 609 citing articles:

Natural Variation in Gene Expression Modulates the Severity of Mutant Phenotypes
Victoria Vu, Adrian J. Verster, Michael R Schertzberg, et al.
Cell (2015) Vol. 162, Iss. 2, pp. 391-402
Open Access | Times Cited: 153
NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment
Ana Fernández‐Marmiesse, Sofía Gouveia, María L. Couce
Current Medicinal Chemistry (2017) Vol. 25, Iss. 3, pp. 404-432
Open Access | Times Cited: 143
Massively Parallel Assays and Quantitative Sequence–Function Relationships
Justin B. Kinney, David M. McCandlish
Annual Review of Genomics and Human Genetics (2019) Vol. 20, Iss. 1, pp. 99-127
Open Access | Times Cited: 142
Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development
Richard S. Smith, Connor Kenny, Vijay Ganesh, et al.
Neuron (2018) Vol. 99, Iss. 5, pp. 905-913.e7
Open Access | Times Cited: 140
Disease Tolerance as an Inherent Component of Immunity
Rui Martins, Ana Rita Carlos, Faouzi Braza, et al.
Annual Review of Immunology (2019) Vol. 37, Iss. 1, pp. 405-437
Open Access | Times Cited: 137
Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus
Sabrina Prudente, Prapaporn Jungtrakoon, Antonella Marucci, et al.
The American Journal of Human Genetics (2015) Vol. 97, Iss. 1, pp. 177-185
Open Access | Times Cited: 136
The continuum of causality in human genetic disorders
Nicholas Katsanis
Genome biology (2016) Vol. 17, Iss. 1
Open Access | Times Cited: 129
The evolution of sex differences in disease
Edward H. Morrow
Biology of Sex Differences (2015) Vol. 6, Iss. 1
Open Access | Times Cited: 125
Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance
Kashyap Patel, Jarno L. T. Kettunen, Markku Laakso, et al.
Nature Communications (2017) Vol. 8, Iss. 1
Open Access | Times Cited: 121
Bilirubin: The yellow hormone?
Libor Vı́tek, Claudio Tiribelli
Journal of Hepatology (2021) Vol. 75, Iss. 6, pp. 1485-1490
Closed Access | Times Cited: 103
DDX41 mutations in myeloid neoplasms are associated with male gender, TP53 mutations and high‐risk disease
Andres Quesada, Mark J. Routbort, Courtney D. DiNardo, et al.
American Journal of Hematology (2019) Vol. 94, Iss. 7, pp. 757-766
Open Access | Times Cited: 99
RNA-Seq Perspectives to Improve Clinical Diagnosis
Guillermo Marco-Puche, Sergio Lois, Javier Benı́tez, et al.
Frontiers in Genetics (2019) Vol. 10
Open Access | Times Cited: 95
Homologous Recombination Deficiency: Cancer Predispositions and Treatment Implications
Ming-Ren Toh, Joanne Ngeow
The Oncologist (2021) Vol. 26, Iss. 9, pp. e1526-e1537
Open Access | Times Cited: 94
Digenic inheritance and genetic modifiers
Constantinos Deltas
Clinical Genetics (2017) Vol. 93, Iss. 3, pp. 429-438
Open Access | Times Cited: 93
Autism risk in offspring can be assessed through quantification of male sperm mosaicism
Martin W. Breuss, Danny Antaki, Renee D. George, et al.
Nature Medicine (2019) Vol. 26, Iss. 1, pp. 143-150
Open Access | Times Cited: 93
Ion Channel Functions in Early Brain Development
Richard S. Smith, Christopher A. Walsh
Trends in Neurosciences (2020) Vol. 43, Iss. 2, pp. 103-114
Open Access | Times Cited: 93
Function Over Form: Modeling Groups of Inherited Neurological Conditions in Zebrafish
Robert A. Kozol, Alexander J. Abrams, David M. James, et al.
Frontiers in Molecular Neuroscience (2016) Vol. 9
Open Access | Times Cited: 91
The background puzzle: how identical mutations in the same gene lead to different disease symptoms
Jan E. Kammenga
FEBS Journal (2017) Vol. 284, Iss. 20, pp. 3362-3373
Open Access | Times Cited: 89
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
Julia K. Goodrich, Moriel Singer‐Berk, Rachel G. Son, et al.
Nature Communications (2021) Vol. 12, Iss. 1
Open Access | Times Cited: 74
The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health
Audrey C. Woerner, Renata C. Gallagher, Jerry Vockley, et al.
Frontiers in Pediatrics (2021) Vol. 9
Open Access | Times Cited: 74
Population-Based Penetrance of Deleterious Clinical Variants
Iain S. Forrest, Kumardeep Chaudhary, Ha My T. Vy, et al.
JAMA (2022) Vol. 327, Iss. 4, pp. 350-350
Open Access | Times Cited: 61
The individual and global impact of copy-number variants on complex human traits
Chiara Auwerx, Maarja Lepamets, Marie C. Sadler, et al.
The American Journal of Human Genetics (2022) Vol. 109, Iss. 4, pp. 647-668
Open Access | Times Cited: 60
The genetic structure of the Turkish population reveals high levels of variation and admixture
Meltem Ece Kars, A. Nazlı Başak, Onur Emre Onat, et al.
Proceedings of the National Academy of Sciences (2021) Vol. 118, Iss. 36
Open Access | Times Cited: 59
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: 58
Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn’s Disease
Julie Horowitz, Neil Warner, Jeffrey Staples, et al.
Scientific Reports (2021) Vol. 11, Iss. 1
Open Access | Times Cited: 57

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