Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study.

Audain E, Wilsdon A, Dombrowsky G, Sifrim A, Breckpot J, Perez-Riverol Y, Loughna S, Daly A, Antoniou P, Hofmann P, Perez-Riverol A, Kahlert AK, Bauer U, Pickardt T, Klaassen S, Berger F, Daehnert I, Dittrich S, Stiller B, Abdul-Khaliq H, Bu'lock F, Uebing A, Kramer HH, Iyer V, Larsen LA, Brook JD, Hitz MP

Open source

DOI: 10.1038/s41525-026-00582-z
Published: 2026 Jun 2
Container: NPJ genomic medicine
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1038/s41525-026-00582-z,
  title = {Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study.},
  author = {Audain E and Wilsdon A and Dombrowsky G and Sifrim A and Breckpot J and Perez-Riverol Y and Loughna S and Daly A and Antoniou P and Hofmann P and Perez-Riverol A and Kahlert AK and Bauer U and Pickardt T and Klaassen S and Berger F and Daehnert I and Dittrich S and Stiller B and Abdul-Khaliq H and Bu'lock F and Uebing A and Kramer HH and Iyer V and Larsen LA and Brook JD and Hitz MP},
  year = {2026},
  journal = {NPJ genomic medicine},
  doi = {10.1038/s41525-026-00582-z},
  url = {https://doi.org/10.1038/s41525-026-00582-z}
}

RIS

TY  - JOUR
TI  - Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study.
AU  - Audain E
AU  - Wilsdon A
AU  - Dombrowsky G
AU  - Sifrim A
AU  - Breckpot J
AU  - Perez-Riverol Y
AU  - Loughna S
AU  - Daly A
AU  - Antoniou P
AU  - Hofmann P
AU  - Perez-Riverol A
AU  - Kahlert AK
AU  - Bauer U
AU  - Pickardt T
AU  - Klaassen S
AU  - Berger F
AU  - Daehnert I
AU  - Dittrich S
AU  - Stiller B
AU  - Abdul-Khaliq H
AU  - Bu'lock F
AU  - Uebing A
AU  - Kramer HH
AU  - Iyer V
AU  - Larsen LA
AU  - Brook JD
AU  - Hitz MP
PY  - 2026
JO  - NPJ genomic medicine
DO  - 10.1038/s41525-026-00582-z
UR  - https://doi.org/10.1038/s41525-026-00582-z
ER  -

APA

E, A., A, W., G, D., A, S., J, B., Y, P., S, L., A, D., P, A., P, H., A, P., AK, K., U, B., T, P., S, K., F, B., I, D., S, D., B, S., H, A., F, B., A, U., HH, K., V, I., LA, L., JD, B., & MP, H. (2026). Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study.. NPJ genomic medicine. https://doi.org/10.1038/s41525-026-00582-z

Source records

pubmed · retrieved 2026-09-26T04:28:34.914Z