
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
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 26-50 of 485 citing articles:
Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU*
Erica Sanford Kobayashi, Michelle M. Clark, Lauge Farnaes, et al.
Pediatric Critical Care Medicine (2019) Vol. 20, Iss. 11, pp. 1007-1020
Open Access | Times Cited: 126
Erica Sanford Kobayashi, Michelle M. Clark, Lauge Farnaes, et al.
Pediatric Critical Care Medicine (2019) Vol. 20, Iss. 11, pp. 1007-1020
Open Access | Times Cited: 126
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
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
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing
Gregory Costain, Rebekah Jobling, Susan Walker, et al.
European Journal of Human Genetics (2018) Vol. 26, Iss. 5, pp. 740-744
Open Access | Times Cited: 117
Gregory Costain, Rebekah Jobling, Susan Walker, et al.
European Journal of Human Genetics (2018) Vol. 26, Iss. 5, pp. 740-744
Open Access | Times Cited: 117
Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature
Hadley Stevens Smith, J. Michael Swint, Seema R. Lalani, et al.
Genetics in Medicine (2018) Vol. 21, Iss. 1, pp. 3-16
Open Access | Times Cited: 116
Hadley Stevens Smith, J. Michael Swint, Seema R. Lalani, et al.
Genetics in Medicine (2018) Vol. 21, Iss. 1, pp. 3-16
Open Access | Times Cited: 116
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease
Andrew M. Gross, Subramanian S. Ajay, Vani Rajan, et al.
Genetics in Medicine (2018) Vol. 21, Iss. 5, pp. 1121-1130
Open Access | Times Cited: 113
Andrew M. Gross, Subramanian S. Ajay, Vani Rajan, et al.
Genetics in Medicine (2018) Vol. 21, Iss. 5, pp. 1121-1130
Open Access | Times Cited: 113
Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders
Oliver James Dillon, Sebastian Lunke, Zornitza Stark, et al.
European Journal of Human Genetics (2018) Vol. 26, Iss. 5, pp. 644-651
Open Access | Times Cited: 112
Oliver James Dillon, Sebastian Lunke, Zornitza Stark, et al.
European Journal of Human Genetics (2018) Vol. 26, Iss. 5, pp. 644-651
Open Access | Times Cited: 112
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
Christian R. Marshall, Shimul Chowdhury, Ryan J. Taft, et al.
npj Genomic Medicine (2020) Vol. 5, Iss. 1
Open Access | Times Cited: 110
Genome sequencing and implications for rare disorders
Jennifer E. Posey
Orphanet Journal of Rare Diseases (2019) Vol. 14, Iss. 1
Open Access | Times Cited: 96
Jennifer E. Posey
Orphanet Journal of Rare Diseases (2019) Vol. 14, Iss. 1
Open Access | Times Cited: 96
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: 94
Guillermo Marco-Puche, Sergio Lois, Javier Benı́tez, et al.
Frontiers in Genetics (2019) Vol. 10
Open Access | Times Cited: 94
Clinical sequencing: From raw data to diagnosis with lifetime value
Sylvan M. Caspar, Nicolo Dubacher, Anna M. Kopps, et al.
Clinical Genetics (2017) Vol. 93, Iss. 3, pp. 508-519
Open Access | Times Cited: 92
Sylvan M. Caspar, Nicolo Dubacher, Anna M. Kopps, et al.
Clinical Genetics (2017) Vol. 93, Iss. 3, pp. 508-519
Open Access | Times Cited: 92
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS
André B. P. Kuilenburg, Maja Tarailo‐Graovac, Phillip A. Richmond, et al.
New England Journal of Medicine (2019) Vol. 380, Iss. 15, pp. 1433-1441
Open Access | Times Cited: 86
André B. P. Kuilenburg, Maja Tarailo‐Graovac, Phillip A. Richmond, et al.
New England Journal of Medicine (2019) Vol. 380, Iss. 15, pp. 1433-1441
Open Access | Times Cited: 86
Toward Clinical Implementation of Next-Generation Sequencing-Based Genetic Testing in Rare Diseases: Where Are We?
Zhichao Liu, Liyuan Zhu, Ruth Roberts, et al.
Trends in Genetics (2019) Vol. 35, Iss. 11, pp. 852-867
Open Access | Times Cited: 85
Zhichao Liu, Liyuan Zhu, Ruth Roberts, et al.
Trends in Genetics (2019) Vol. 35, Iss. 11, pp. 852-867
Open Access | Times Cited: 85
Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy
Gregory Costain, Dawn Cordeiro, Diana Matviychuk, et al.
Neuroscience (2019) Vol. 418, pp. 291-310
Closed Access | Times Cited: 81
Gregory Costain, Dawn Cordeiro, Diana Matviychuk, et al.
Neuroscience (2019) Vol. 418, pp. 291-310
Closed Access | Times Cited: 81
Interpretable Clinical Genomics with a Likelihood Ratio Paradigm
Peter N. Robinson, Vida Ravanmehr, Julius O.B. Jacobsen, et al.
The American Journal of Human Genetics (2020) Vol. 107, Iss. 3, pp. 403-417
Open Access | Times Cited: 80
Peter N. Robinson, Vida Ravanmehr, Julius O.B. Jacobsen, et al.
The American Journal of Human Genetics (2020) Vol. 107, Iss. 3, pp. 403-417
Open Access | Times Cited: 80
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
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
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease
Miriam S. Reuter, Rajiv Chaturvedi, Eriskay Liston, et al.
Genetics in Medicine (2020) Vol. 22, Iss. 6, pp. 1015-1024
Open Access | Times Cited: 74
Miriam S. Reuter, Rajiv Chaturvedi, Eriskay Liston, et al.
Genetics in Medicine (2020) Vol. 22, Iss. 6, pp. 1015-1024
Open Access | Times Cited: 74
The clinical utility of exome and genome sequencing across clinical indications: a systematic review
Salma Shickh, Chloe Mighton, Elizabeth Uleryk, et al.
Human Genetics (2021) Vol. 140, Iss. 10, pp. 1403-1416
Closed Access | Times Cited: 71
Salma Shickh, Chloe Mighton, Elizabeth Uleryk, et al.
Human Genetics (2021) Vol. 140, Iss. 10, pp. 1403-1416
Closed Access | Times Cited: 71
AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis
Véronique Geoffroy, Thomas Guignard, Arnaud Kress, et al.
Nucleic Acids Research (2021) Vol. 49, Iss. W1, pp. W21-W28
Open Access | Times Cited: 59
Véronique Geoffroy, Thomas Guignard, Arnaud Kress, et al.
Nucleic Acids Research (2021) Vol. 49, Iss. W1, pp. W21-W28
Open Access | Times Cited: 59
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders
Bart van der Sanden, Gaby Schobers, Jordi Corominas Galbany, et al.
European Journal of Human Genetics (2022) Vol. 31, Iss. 1, pp. 81-88
Open Access | Times Cited: 55
Bart van der Sanden, Gaby Schobers, Jordi Corominas Galbany, et al.
European Journal of Human Genetics (2022) Vol. 31, Iss. 1, pp. 81-88
Open Access | Times Cited: 55
Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy
Siddharth Srivastava, Sara A. Lewis, Julie S. Cohen, et al.
JAMA Neurology (2022) Vol. 79, Iss. 12, pp. 1287-1287
Open Access | Times Cited: 53
Siddharth Srivastava, Sara A. Lewis, Julie S. Cohen, et al.
JAMA Neurology (2022) Vol. 79, Iss. 12, pp. 1287-1287
Open Access | Times Cited: 53
Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions
Tara A. Lavelle, Xue Feng, Marlena Keisler, et al.
Genetics in Medicine (2022) Vol. 24, Iss. 6, pp. 1349-1361
Closed Access | Times Cited: 43
Tara A. Lavelle, Xue Feng, Marlena Keisler, et al.
Genetics in Medicine (2022) Vol. 24, Iss. 6, pp. 1349-1361
Closed Access | Times Cited: 43
Meta-analysis of the diagnostic and clinical utility of exome and genome sequencing in pediatric and adult patients with rare diseases across diverse populations
Claudia Ching Yan Chung, Shirley P.Y. Hue, Nicole Y.T. Ng, et al.
Genetics in Medicine (2023) Vol. 25, Iss. 9, pp. 100896-100896
Open Access | Times Cited: 39
Claudia Ching Yan Chung, Shirley P.Y. Hue, Nicole Y.T. Ng, et al.
Genetics in Medicine (2023) Vol. 25, Iss. 9, pp. 100896-100896
Open Access | Times Cited: 39
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases
Nicole Weisschuh, Pascale Mazzola, Theresia Zuleger, et al.
Journal of Medical Genetics (2023) Vol. 61, Iss. 2, pp. 186-195
Open Access | Times Cited: 37
Nicole Weisschuh, Pascale Mazzola, Theresia Zuleger, et al.
Journal of Medical Genetics (2023) Vol. 61, Iss. 2, pp. 186-195
Open Access | Times Cited: 37
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
Alistair T. Pagnamenta, Carlos Camps, Edoardo Giacopuzzi, et al.
Genome Medicine (2023) Vol. 15, Iss. 1
Open Access | Times Cited: 31
Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment
Mario Cesare Nurchis, Gerardo Altamura, Maria Teresa Riccardi, et al.
Archives of Public Health (2023) Vol. 81, Iss. 1
Open Access | Times Cited: 25
Mario Cesare Nurchis, Gerardo Altamura, Maria Teresa Riccardi, et al.
Archives of Public Health (2023) Vol. 81, Iss. 1
Open Access | Times Cited: 25