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:

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
Anath C. Lionel, Gregory Costain, Nasim Monfared, et al.
Genetics in Medicine (2017) Vol. 20, Iss. 4, pp. 435-443
Open Access | Times Cited: 485

Showing 1-25 of 485 citing articles:

Paediatric genomics: diagnosing rare disease in children
Caroline F. Wright, David Fitzpatrick, Helen V. Firth
Nature Reviews Genetics (2018) Vol. 19, Iss. 5, pp. 253-268
Closed Access | Times Cited: 528

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases
Michelle M. Clark, Zornitza Stark, Lauge Farnaes, et al.
npj Genomic Medicine (2018) Vol. 3, Iss. 1
Open Access | Times Cited: 517

The 100 000 Genomes Project: bringing whole genome sequencing to the NHS
Clare Turnbull, Richard H. Scott, Ellen Thomas, et al.
BMJ (2018), pp. k1687-k1687
Closed Access | Times Cited: 391

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
Lauge Farnaes, Amber Hildreth, Nathaly M. Sweeney, et al.
npj Genomic Medicine (2018) Vol. 3, Iss. 1
Open Access | Times Cited: 386

A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants
Stephen F. Kingsmore, Julie A. Cakici, Michelle M. Clark, et al.
The American Journal of Human Genetics (2019) Vol. 105, Iss. 4, pp. 719-733
Open Access | Times Cited: 291

Next-Generation Sequencing to Diagnose Suspected Genetic Disorders
David R. Adams, Christine M. Eng
New England Journal of Medicine (2018) Vol. 379, Iss. 14, pp. 1353-1362
Closed Access | Times Cited: 216

Congenital disorders of glycosylation
Irene J. Chang, Miao He, Christina Lam
Annals of Translational Medicine (2018) Vol. 6, Iss. 24, pp. 477-477
Open Access | Times Cited: 192

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data
Brett Trost, Susan Walker, Zhuozhi Wang, et al.
The American Journal of Human Genetics (2018) Vol. 102, Iss. 1, pp. 142-155
Open Access | Times Cited: 183

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases
Hane Lee, Alden Huang, Lee-kai Wang, et al.
Genetics in Medicine (2019) Vol. 22, Iss. 3, pp. 490-499
Open Access | Times Cited: 174

Optical genome mapping enables constitutional chromosomal aberration detection
Tuomo Mantere, Kornelia Neveling, Céline Pebrel‐Richard, et al.
The American Journal of Human Genetics (2021) Vol. 108, Iss. 8, pp. 1409-1422
Open Access | Times Cited: 171

Diagnosis, prognosis, and treatment of leukodystrophies
Marjo S. van der Knaap, Raphael Schiffmann, Fanny Mochel, et al.
The Lancet Neurology (2019) Vol. 18, Iss. 10, pp. 962-972
Closed Access | Times Cited: 146

Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice
Nine V.A.M. Knoers, Corinne Antignac, Carsten Bergmann, et al.
Nephrology Dialysis Transplantation (2021) Vol. 37, Iss. 2, pp. 239-254
Open Access | Times Cited: 116

Detection of aberrant gene expression events in RNA sequencing data
Vicente A. Yépez, Christian Mertes, Michaela Müller, et al.
Nature Protocols (2021) Vol. 16, Iss. 2, pp. 1276-1296
Open Access | Times Cited: 105

Best practices for the interpretation and reporting of clinical whole genome sequencing
Christina Austin‐Tse, Vaidehi Jobanputra, Denise Perry, et al.
npj Genomic Medicine (2022) Vol. 7, Iss. 1
Open Access | Times Cited: 98

Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis
Lisa Ewans, André E. Minoche, Deborah Schofield, et al.
European Journal of Human Genetics (2022) Vol. 30, Iss. 10, pp. 1121-1131
Open Access | Times Cited: 73

Beyond the exome: What’s next in diagnostic testing for Mendelian conditions
Monica H. Wojcik, Chloe M. Reuter, Shruti Marwaha, et al.
The American Journal of Human Genetics (2023) Vol. 110, Iss. 8, pp. 1229-1248
Open Access | Times Cited: 65

Genome Sequencing for Diagnosing Rare Diseases
Monica H. Wojcik, Gabrielle Lemire, Eva Berger, et al.
New England Journal of Medicine (2024) Vol. 390, Iss. 21, pp. 1985-1997
Closed Access | Times Cited: 56

Recent advances in polygenic scores: translation, equitability, methods and FAIR tools
Ruidong Xiang, Martin Kelemen, Yu Xu, et al.
Genome Medicine (2024) Vol. 16, Iss. 1
Open Access | Times Cited: 30

The expanding diagnostic toolbox for rare genetic diseases
Kristin D. Kernohan, Kym M. Boycott
Nature Reviews Genetics (2024) Vol. 25, Iss. 6, pp. 401-415
Closed Access | Times Cited: 29

Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients
Babi Ramesh Reddy Nallamilli, Samya Chakravorty, Akanchha Kesari, et al.
Annals of Clinical and Translational Neurology (2018) Vol. 5, Iss. 12, pp. 1574-1587
Open Access | Times Cited: 151

Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project
Pauline Robbe, Niko Popitsch, Samantha J.L. Knight, et al.
Genetics in Medicine (2018) Vol. 20, Iss. 10, pp. 1196-1205
Open Access | Times Cited: 145

Review of applications of high-throughput sequencing in personalized medicine: barriers and facilitators of future progress in research and clinical application
Gaye Lightbody, Valeriia Haberland, Fiona Browne, et al.
Briefings in Bioinformatics (2018) Vol. 20, Iss. 5, pp. 1795-1811
Open Access | Times Cited: 145

Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing
Ahmed Alfares, Taghrid Aloraini, Lamia Al subaie, et al.
Genetics in Medicine (2018) Vol. 20, Iss. 11, pp. 1328-1333
Open Access | Times Cited: 143

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