Aho Ilgun

407

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Research activity per year

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Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension
Postma, A. V., Rapp, C. K., Knoflach, K., Volk, A. E., Lemke, J. R., Ackermann, M., Regamey, N., Latzin, P., Celant, L., Jansen, S. M. A., Bogaard, H. J., Ilgun, A., Alders, M., van Spaendonck-Zwarts, K. Y., Jonigk, D., Klein, C., Gräf, S., Kubisch, C., Houweling, A. C. & Griese, M., 1 Jan 2023, In: Genetics in medicine open. 1, 1, p. 100811 100811.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
File
17 Downloads (Pure)
Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries
KORA-Study Group, 21 Jan 2022, In: Circulation research. 130, 2, p. 166-180 15 p.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
File
32 Downloads (Pure)
Erratum: Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms(Genet Med (2021)23(103-110)(s41436020009394)(10.1038/s41436-020-00939-4))
van Walree, E. S., Dombrowsky, G., Jansen, I. E., Umićević Mirkov, M., Zwart, R., Ilgun, A., Guo, D., Clur, S.-A. B., Amin, A. S., Savage, J. E., van der Wal, A. C., Waisfisz, Q., Maugeri, A., Wilsdon, A., Bu'Lock, F. A., Hurles, M. E., Dittrich, S., Berger, F., Audain Martinez, E. & Christoffels, V. M. & 6 others, Hitz, M.-P., Milewicz, D. M., Posthuma, D., Meijers-Heijboer, H., Postma, A. V. & Mathijssen, I. B., 1 Apr 2022, In: Genetics in medicine. 24, 4, p. 965 1 p.
Research output: Contribution to journal › Comment/Letter to the editor › Academic

Open Access
File
5 Downloads (Pure)
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy
Lahrouchi, N., Postma, A. V., Salazar, C. M., de Laughter, D. M., Tjong, F., Piherová, L., Bowling, F. Z., Zimmerman, D., Lodder, E. M., Ta-Shma, A., Perles, Z., Beekman, L., Ilgun, A., Gunst, Q., Hababa, M., Škorić-Milosavljević, D., Stránecký, V., Tomek, V., de Knijff, P. & de Leeuw, R. & 36 others, Robinson, J. Y., Burn, S. C., Mustafa, H., Ambrose, M., Moss, T., Jacober, J., Niyazov, D. M., Wolf, B., Kim, K. H., Cherny, S., Rousounides, A., Aristidou-Kallika, A., Tanteles, G., Ange-Line, B., Denommé-Pichon, A.-S., Francannet, C., Ortiz, D., Haak, M. C., ten Harkel, A. D. J., Manten, G. T. R., Dutman, A. C., Bouman, K., Magliozzi, M., Radio, F. C., Santen, G. W. E., Herkert, J. C., Alex Brown, H., Elpeleg, O., van den Hoff, M. J. B., Mulder, B., Airola, M. V., Kmoch, S., Barnett, J. V., Clur, S.-A., Frohman, M. A. & Bezzina, C. R., 1 Mar 2021, In: Journal of clinical investigation. 131, 5, e142148.
Research output: Contribution to journal › Article › Academic › peer-review

Open Access
File
19 Downloads (Pure)
Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot (Genetics in Medicine, (2021), 23, 10, (1952-1960), 10.1038/s41436-021-01212-y)
German Competence Network for Congenital Heart Defects, Oct 2021, In: Genetics in medicine. 23, 10, p. 2013 1 p.
Research output: Contribution to journal › Comment/Letter to the editor › Academic

Open Access

Aho Ilgun

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Collaborations and top research areas from the last five years

Dive into details

Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

Erratum: Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms(Genet Med (2021)23(103-110)(s41436020009394)(10.1038/s41436-020-00939-4))

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy

Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot (Genetics in Medicine, (2021), 23, 10, (1952-1960), 10.1038/s41436-021-01212-y)

Aho Ilgun

Fingerprint

Collaborations and top research areas from the last five years

Research output

Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertension

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

Erratum: Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms(Genet Med (2021)23(103-110)(s41436020009394)(10.1038/s41436-020-00939-4))

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy

Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot (Genetics in Medicine, (2021), 23, 10, (1952-1960), 10.1038/s41436-021-01212-y)