Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analyses.

Chang Y, Rath EM, Soka M, Singer ES, Trivedi G, Burns C, Austin R, Boughtwood T, Brown JS, Casauria S, Chong B, Cvetkovska J, Dunwoodie SL, Lunke S, Mattiske T, McGaughran J, Pantaleo SJ, Quinn MCJ, Semsarian C, Macciocca I, Ingles J, Fatkin D, Giannoulatou E, Bagnall RD, Australian Genomics Cardiovascular Disorders Flagship

Open source

DOI: 10.1016/j.gim.2025.101626
Published: 2026 Jan
Container: Genetics in medicine : official journal of the American College of Medical Genetics
Publisher: Not recorded
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1016/j.gim.2025.101626,
  title = {Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analyses.},
  author = {Chang Y and Rath EM and Soka M and Singer ES and Trivedi G and Burns C and Austin R and Boughtwood T and Brown JS and Casauria S and Chong B and Cvetkovska J and Dunwoodie SL and Lunke S and Mattiske T and McGaughran J and Pantaleo SJ and Quinn MCJ and Semsarian C and Macciocca I and Ingles J and Fatkin D and Giannoulatou E and Bagnall RD and Australian Genomics Cardiovascular Disorders Flagship},
  year = {2026},
  journal = {Genetics in medicine : official journal of the American College of Medical Genetics},
  doi = {10.1016/j.gim.2025.101626},
  url = {https://doi.org/10.1016/j.gim.2025.101626}
}

RIS

TY  - JOUR
TI  - Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analyses.
AU  - Chang Y
AU  - Rath EM
AU  - Soka M
AU  - Singer ES
AU  - Trivedi G
AU  - Burns C
AU  - Austin R
AU  - Boughtwood T
AU  - Brown JS
AU  - Casauria S
AU  - Chong B
AU  - Cvetkovska J
AU  - Dunwoodie SL
AU  - Lunke S
AU  - Mattiske T
AU  - McGaughran J
AU  - Pantaleo SJ
AU  - Quinn MCJ
AU  - Semsarian C
AU  - Macciocca I
AU  - Ingles J
AU  - Fatkin D
AU  - Giannoulatou E
AU  - Bagnall RD
AU  - Australian Genomics Cardiovascular Disorders Flagship
PY  - 2026
JO  - Genetics in medicine : official journal of the American College of Medical Genetics
DO  - 10.1016/j.gim.2025.101626
UR  - https://doi.org/10.1016/j.gim.2025.101626
ER  -

APA

Y, C., EM, R., M, S., ES, S., G, T., C, B., R, A., T, B., JS, B., S, C., B, C., J, C., SL, D., S, L., T, M., J, M., SJ, P., MCJ, Q., C, S., I, M., J, I., D, F., E, G., RD, B., & Flagship, A. G. C. D. (2026). Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analyses.. Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1016/j.gim.2025.101626

Source records

pubmed · retrieved 2026-09-26T22:42:36.362Z