The DOI matches its Crossref record; 27 of the 27 references it cites were found in a registry or an index.
The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG)
Open accessOverview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
Green, R. C., Berg, J. S., Grody, W. W., Kalia, S. S., Korf, B. R., Martin, C. L., McGuire, A. L., Nussbaum, R. L., O’Daniel, J. M., Ormond, K. E., et al. (2013) · Genetics in Medicine · doi:10.1038/gim.2013.73 · Cited by 2,541
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
Yang, Y., Muzny, D. M., Reid, J. G., Bainbridge, M. N., Willis, A., Ward, P. A., Braxton, A., Beuten, J., Xia, F., Niu, Z., et al. (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1306555 · Cited by 1,964
Kalia, S. S., Adelman, K., Bale, S. J., Chung, W. K., Eng, C., Evans, J. P., Herman, G. E., Hufnagel, S. B., Klein, T. E., Korf, B. R., et al. (2017) · Genetics in Medicine · doi:10.1038/gim.2016.190 · Cited by 1,644
Chromosomal microarray versus karyotyping for prenatal diagnosis
Wapner, R. J., Martin, C. L., Levy, B., Ballif, B. C., Eng, C. M., Zachary, J. M., Savage, M., Platt, L. D., Saltzman, D., Grobman, W. A., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1203382 · Cited by 1,412
Clinical application of whole-exome sequencing across clinical indications
Retterer, K., Juusola, J., Cho, M. T., Vitazka, P., Millan, F., Gibellini, F., Vertino-Bell, A., Smaoui, N., Neidich, J., Monaghan, K. G., et al. (2016) · Genetics in Medicine · doi:10.1038/gim.2015.148 · Cited by 1,035
Self-citationClinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
Lee, H., Deignan, J. L., Dorrani, N., Strom, S. P., Kantarci, S., Quintero-Rivera, F., Das, K., Toy, T., Harry, B., Yourshaw, M., et al. (2014) · JAMA · doi:10.1001/jama.2014.14604 · Cited by 973
ACMG clinical laboratory standards for next-generation sequencing
Rehm, H. L., Bale, S. J., Bayrak-Toydemir, P., Berg, J. S., Brown, K. K., Deignan, J. L., Friez, M. J., Funke, B. H., Hegde, M. R., & Lyon, E. (2013) · Genetics in Medicine · doi:10.1038/gim.2013.92 · Cited by 907
Lord, J., McMullan, D. J., Eberhardt, R. Y., Rinck, G., Hamilton, S. J., Quinlan-Jones, E., Prigmore, E., Keelagher, R., Best, S. K., Carey, G. K., et al. (2019) · The Lancet · doi:10.1016/s0140-6736(18)31940-8 · Cited by 711
Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study
Petrovski, S., Aggarwal, V., Giordano, J. L., Stosic, M., Wou, K., Bier, L., Spiegel, E., Brennan, K., Stong, N., Jobanputra, V., et al. (2019) · The Lancet · doi:10.1016/s0140-6736(18)32042-7 · Cited by 608
Cited by
Miller, D. T., Lee, K., Gordon, A. S., Amendola, L. M., Adelman, K., Bale, S. J., Chung, W. K., Gollob, M. H., Harrison, S. M., Herman, G. E., et al. (2021) · Genetics in Medicine · doi:10.1038/s41436-021-01171-4 · Cited by 251
Metadata
- Authors
- Monaghan, K. G., Leach, N. T., Pekarek, D., Prasad, P., & Rose, N. C.
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2020-04
- Volume
- 22
- Issue
- 4
- Pages
- 675-680
- ISSN
- 1098-3600 (ISSN-L)
- OpenAlex
- W3000483992
- Cited by
- 269
- References
- 27
- FWCI
- 31.04
- Type
- journal article
- Language
- en
- Open access
- bronze
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG). https://app.cochat.ai/papers/10.1038/s41436-019-0731-7
- The paper
- Monaghan, K. G., Leach, N. T., Pekarek, D., Prasad, P., & Rose, N. C. (2020). The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine. https://doi.org/10.1038/s41436-019-0731-7
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.