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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:

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

Showing 1-25 of 291 citing articles:

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)
Kandamurugu Manickam, Monica R. McClain, Laurie Demmer, et al.
Genetics in Medicine (2021) Vol. 23, Iss. 11, pp. 2029-2037
Open Access | Times Cited: 400
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
Sebastian Lunke, Stefanie Eggers, Meredith Wilson, et al.
JAMA (2020) Vol. 323, Iss. 24, pp. 2503-2503
Open Access | Times Cited: 191
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care
David Dimmock, Sara Caylor, Bryce Waldman, et al.
The American Journal of Human Genetics (2021) Vol. 108, Iss. 7, pp. 1231-1238
Open Access | Times Cited: 186
The role of exome sequencing in newborn screening for inborn errors of metabolism
Aashish N. Adhikari, Renata C. Gallagher, Yaqiong Wang, et al.
Nature Medicine (2020) Vol. 26, Iss. 9, pp. 1392-1397
Open Access | Times Cited: 183
GA4GH: International policies and standards for data sharing across genomic research and healthcare
Heidi L. Rehm, Angela Page, Lindsay Smith, et al.
Cell Genomics (2021) Vol. 1, Iss. 2, pp. 100029-100029
Open Access | Times Cited: 183
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm
David Dimmock, Michelle M. Clark, Mary Gaughran, et al.
The American Journal of Human Genetics (2020) Vol. 107, Iss. 5, pp. 942-952
Open Access | Times Cited: 144
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease
Ian D. Krantz, Līvija Medne, Jamila Weatherly, et al.
JAMA Pediatrics (2021) Vol. 175, Iss. 12, pp. 1218-1218
Open Access | Times Cited: 127
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases
Stephen F. Kingsmore, Laurie D. Smith, Chris M. Kunard, et al.
The American Journal of Human Genetics (2022) Vol. 109, Iss. 9, pp. 1605-1619
Open Access | Times Cited: 110
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
Recommendations for whole genome sequencing in diagnostics for rare diseases
Erika Souche, Sergi Beltrán, Erwin Brosens, et al.
European Journal of Human Genetics (2022) Vol. 30, Iss. 9, pp. 1017-1021
Open Access | Times Cited: 92
International Society for Prenatal Diagnosis Updated Position Statement on the use of genome‐wide sequencing for prenatal diagnosis
Ignatia B. Van den Veyver, Natalie Chandler, Louise Wilkins‐Haug, et al.
Prenatal Diagnosis (2022) Vol. 42, Iss. 6, pp. 796-803
Closed Access | Times Cited: 77
Integrated multi-omics for rapid rare disease diagnosis on a national scale
Sebastian Lunke, Sophie E. Bouffler, Chirag Patel, et al.
Nature Medicine (2023) Vol. 29, Iss. 7, pp. 1681-1691
Open Access | Times Cited: 74
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
Applications of long-read sequencing to Mendelian genetics
Francesco Mastrorosa, Danny E. Miller, Evan E. Eichler
Genome Medicine (2023) Vol. 15, Iss. 1
Open Access | Times Cited: 58
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
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
Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review
Stephen F. Kingsmore, Russell Nofsinger, Kasia Ellsworth
npj Genomic Medicine (2024) Vol. 9, Iss. 1
Open Access | Times Cited: 24
Artificial intelligence in clinical genetics
Dat Duong, Benjamin D. Solomon
European Journal of Human Genetics (2025)
Open Access | Times Cited: 3
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection
Shloka Negi, Sarah L. Stenton, Seth Berger, et al.
The American Journal of Human Genetics (2025)
Closed Access | Times Cited: 2
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease
Christian R. Marshall, Shimul Chowdhury, Ryan J. Taft, et al.
npj Genomic Medicine (2020) Vol. 5, Iss. 1
Open Access | Times Cited: 110
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases
Francisco M. De La Vega, Shimul Chowdhury, Barry Moore, et al.
Genome Medicine (2021) Vol. 13, Iss. 1
Open Access | Times Cited: 102
Mitochondrial Diseases: A Diagnostic Revolution
Katherine Schon, Thiloka Ratnaike, Jelle van den Ameele, et al.
Trends in Genetics (2020) Vol. 36, Iss. 9, pp. 702-717
Open Access | Times Cited: 101
Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project
Tamara S. Roman, Stephanie B. Crowley, Myra I. Roche, et al.
The American Journal of Human Genetics (2020) Vol. 107, Iss. 4, pp. 596-611
Open Access | Times Cited: 89
Epilepsy in the mTORopathies: opportunities for precision medicine
Patrick B. Moloney, Gianpiero L. Cavalleri, Norman Delanty
Brain Communications (2021) Vol. 3, Iss. 4
Open Access | Times Cited: 86
Limitations of exome sequencing in detecting rare and undiagnosed diseases
Kendall J. Burdick, Joy D. Cogan, Lynette Rives, et al.
American Journal of Medical Genetics Part A (2020) Vol. 182, Iss. 6, pp. 1400-1406
Open Access | Times Cited: 78
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