Reduced Diagnostic Yield of Whole Exome Sequencing in Patients With Chromosomal Microarray Detected Copy Number Variants of Uncertain Significance

Lily Loughman, Shuxiang Goh, Karen J. Woodward, Jamie-Lee Ricciardi, Cheryl Wise, Cathryn Poulton, Sharron Townshend, Gargi Pathak, Fiona McKenzie, Kaitlin McGinnis, Jennie Slee, Cathy Kiraly-Borri, Benjamin Kamien

Open source

DOI
10.1017/thg.2026.10109
Published
2026-10-30
Container
Twin Research and Human Genetics
Publisher
Cambridge University Press (CUP)
Open access
unknown

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BibTeX

@article{allodium:10.1017/thg.2026.10109,
  title = {Reduced Diagnostic Yield of Whole Exome Sequencing in Patients With Chromosomal Microarray Detected Copy Number Variants of Uncertain Significance},
  author = {Lily Loughman and Shuxiang Goh and Karen J. Woodward and Jamie-Lee Ricciardi and Cheryl Wise and Cathryn Poulton and Sharron Townshend and Gargi Pathak and Fiona McKenzie and Kaitlin McGinnis and Jennie Slee and Cathy Kiraly-Borri and Benjamin Kamien},
  year = {2026},
  journal = {Twin Research and Human Genetics},
  doi = {10.1017/thg.2026.10109},
  url = {https://doi.org/10.1017/thg.2026.10109}
}

RIS

TY  - JOUR
TI  - Reduced Diagnostic Yield of Whole Exome Sequencing in Patients With Chromosomal Microarray Detected Copy Number Variants of Uncertain Significance
AU  - Lily Loughman
AU  - Shuxiang Goh
AU  - Karen J. Woodward
AU  - Jamie-Lee Ricciardi
AU  - Cheryl Wise
AU  - Cathryn Poulton
AU  - Sharron Townshend
AU  - Gargi Pathak
AU  - Fiona McKenzie
AU  - Kaitlin McGinnis
AU  - Jennie Slee
AU  - Cathy Kiraly-Borri
AU  - Benjamin Kamien
PY  - 2026
JO  - Twin Research and Human Genetics
DO  - 10.1017/thg.2026.10109
UR  - https://doi.org/10.1017/thg.2026.10109
ER  - 

APA

Loughman, L., Goh, S., Woodward, K. J., Ricciardi, J., Wise, C., Poulton, C., Townshend, S., Pathak, G., McKenzie, F., McGinnis, K., Slee, J., Kiraly-Borri, C., & Kamien, B. (2026). Reduced Diagnostic Yield of Whole Exome Sequencing in Patients With Chromosomal Microarray Detected Copy Number Variants of Uncertain Significance. Twin Research and Human Genetics. https://doi.org/10.1017/thg.2026.10109

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