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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:

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders
Maja Tarailo‐Graovac, Jing Zhu, Allison Matthews, et al.
Genetics in Medicine (2017) Vol. 19, Iss. 12, pp. 1300-1308
Open Access | Times Cited: 68

Showing 1-25 of 68 citing articles:

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
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
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
Genetic modifiers of rare variants in monogenic developmental disorder loci
Rebecca Kingdom, Robin N. Beaumont, Andrew R. Wood, et al.
Nature Genetics (2024) Vol. 56, Iss. 5, pp. 861-868
Open Access | Times Cited: 16
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model
Hui Guo, Tianyun Wang, Huidan Wu, et al.
Molecular Autism (2018) Vol. 9, Iss. 1
Open Access | Times Cited: 144
Identification of Misclassified ClinVar Variants via Disease Population Prevalence
Naisha Shah, Ying‐Chen Claire Hou, Hung‐Chun Yu, et al.
The American Journal of Human Genetics (2018) Vol. 102, Iss. 4, pp. 609-619
Open Access | Times Cited: 134
Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis
Patrick Deelen, Sipko van Dam, Johanna C. Herkert, et al.
Nature Communications (2019) Vol. 10, Iss. 1
Open Access | Times Cited: 126
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures
Vincenzo A. Gennarino, Elizabeth E. Palmer, Laura M. McDonell, et al.
Cell (2018) Vol. 172, Iss. 5, pp. 924-936.e11
Open Access | Times Cited: 120
The developmental-genetics of canalization
Benedikt Hallgrímsson, Rebecca M. Green, David C. Katz, et al.
Seminars in Cell and Developmental Biology (2018) Vol. 88, pp. 67-79
Open Access | Times Cited: 85
Estimating yields of prenatal carrier screening and implications for design of expanded carrier screening panels
Michael H. Guo, Anthony R. Gregg
Genetics in Medicine (2019) Vol. 21, Iss. 9, pp. 1940-1947
Open Access | Times Cited: 80
ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden
Andrew G. Sharo, Yangyun Zou, Aashish N. Adhikari, et al.
Genome Medicine (2023) Vol. 15, Iss. 1
Open Access | Times Cited: 24
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies
Hanyin Cheng, Avinash V. Dharmadhikari, Sylvia Varland, et al.
The American Journal of Human Genetics (2018) Vol. 102, Iss. 5, pp. 985-994
Open Access | Times Cited: 82
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease
Jiaqi Liu, Yangzhong Zhou, Sen Liu, et al.
Human Genetics (2018) Vol. 137, Iss. 6-7, pp. 553-567
Open Access | Times Cited: 71
Hardy-Weinberg Equilibrium in the Large Scale Genomic Sequencing Era
Nikita Abramovs, Andy Brass, May Tassabehji
Frontiers in Genetics (2020) Vol. 11
Open Access | Times Cited: 70
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder
Ning Liu, Kelly Schoch, Xi Luo, et al.
Human Molecular Genetics (2018) Vol. 27, Iss. 14, pp. 2454-2465
Open Access | Times Cited: 64
Uncovering Missing Heritability in Rare Diseases
Tatiana Maroilley, Maja Tarailo‐Graovac
Genes (2019) Vol. 10, Iss. 4, pp. 275-275
Open Access | Times Cited: 50
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms
Scott Barish, Tahsin Stefan Barakat, Brittany C. Michel, et al.
The American Journal of Human Genetics (2020) Vol. 107, Iss. 6, pp. 1096-1112
Open Access | Times Cited: 42
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database
Sanna Gudmundsson, Moriel Singer‐Berk, Sarah L. Stenton, et al.
bioRxiv (Cold Spring Harbor Laboratory) (2024)
Open Access | Times Cited: 5
Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review
Emma Graham, Jessica Lee, Magda Price, et al.
Journal of Inherited Metabolic Disease (2018) Vol. 41, Iss. 3, pp. 435-445
Open Access | Times Cited: 46
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size
Diana Le Duc, Cecilia Giulivi, Susan M. Hiatt, et al.
Brain (2019) Vol. 142, Iss. 9, pp. 2617-2630
Open Access | Times Cited: 42
Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants
Tess D. Pottinger, Megan J. Puckelwartz, Lorenzo L. Pesce, et al.
Journal of the American Heart Association (2020) Vol. 9, Iss. 3
Open Access | Times Cited: 37
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
The MFN2 Q367H variant reveals a novel pathomechanism connected to mtDNA-mediated inflammation
Mashiat Zaman, Govinda Sharma, Walaa Almutawa, et al.
Life Science Alliance (2025) Vol. 8, Iss. 6, pp. e202402921-e202402921
Open Access
Current and future advances in genetic testing in systemic autoinflammatory diseases
Oskar Schnappauf, Ivona Aksentijevich
Lara D. Veeken (2019) Vol. 58, Iss. Supplement_6, pp. vi44-vi55
Open Access | Times Cited: 32
Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience
Nandini Mitta, Ramshekhar N. Menon, Amy McTague, et al.
Epilepsy Research (2020) Vol. 166, pp. 106398-106398
Closed Access | Times Cited: 30
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