Aho Ilgun

Research output

Research output per year 2008 2014 2021 2022 2022

• 10 Article
• 3 Comment/Letter to the editor

Research output per year

Research output per year

Search results

• 2022

  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
  12 Citations (Scopus)
• 2021

  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 othersRobinson, 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
  15 Citations (Scopus)

• Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms

  van Walree, E. S., Dombrowsky, G., Jansen, I. E., Mirkov, M. U., 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 othersHitz, M. P., Milewicz, D. M., Posthuma, D., Meijers-Heijboer, H., Postma, A. V. & Mathijssen, I. B., Jan 2021, In: Genetics in medicine. 23, 1, p. 103-110 8 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  5 Citations (Scopus)

• Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

  German Competence Network for Congenital Heart Defects, Oct 2021, In: Genetics in medicine. 23, 10, p. 1952-1960 9 p.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  8 Citations (Scopus)
• 2014

  A mutation in the Kozak sequence of GATA4 hampers translation in a family with atrial septal defects

  Mohan, R. A., van Engelen, K., Stefanovic, S., Barnett, P., Ilgun, A., Baars, M. J. H., Bouma, B. J., Mulder, B. J. M., Christoffels, V. M. & Postma, A. V., 1 Nov 2014, In: American Journal of Medical Genetics, Part A. 164, 11, p. 2732-2738 7 p.

  Research output: Contribution to journal › Article › Academic › peer-review
  18 Citations (Scopus)

• Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal

  Postma, A. V., Alders, M., Sylva, M., Bilardo, C. M., Pajkrt, E., van Rijn, R. R., Schulte-Merker, S., Bulk, S., Stefanovic, S., Ilgun, A., Barnett, P., Mannens, M. M. A. M., Moorman, A. F. M., Oostra, R. J. & van Maarle, M. C., 2014, In: Journal of medical genetics. 51, 2, p. 90-97

  Research output: Contribution to journal › Article › Academic › peer-review
  33 Citations (Scopus)
• 2013

  A novel alpha-tropomyosin mutation associates with dilated and non-compaction cardiomyopathy and diminishes actin binding

  van de Meerakker, J. B. A., Christiaans, I., Barnett, P., Lekanne Deprez, R. H., Ilgun, A., Mook, O. R. F., Mannens, M. M. A. M., Lam, J., Wilde, A. A. M., Moorman, A. F. M. & Postma, A. V., 2013, In: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH. 1833, 4, p. 833-839

  Research output: Contribution to journal › Article › Academic › peer-review
  19 Citations (Scopus)
• 2012

  The Ambiguous Role of NKX2-5 Mutations in Thyroid Dysgenesis

  van Engelen, K., Mommersteeg, M. T. M., Baars, M. J. H., Lam, J., Ilgun, A., van Trotsenburg, A. S. P., Smets, A. M. J. B., Christoffels, V. M., Mulder, B. J. M. & Postma, A. V., 28 Dec 2012, In: PLOS ONE. 7, 12, p. e52685 e52685.

  Research output: Contribution to journal › Article › Academic › peer-review

  Open Access
  34 Citations (Scopus)
• 2010

  Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome

  Boogerd, C. J. J., Dooijes, D., Ilgun, A., Hordijk, R., van de Laar, I. M. B. H., Rump, P., Veenstra-Knol, H. E., Moorman, A. F. M., Barnett, P. & Postma, A. V., 2010, In: Cardiovascular research. 88, 1, p. 130-139

  Research output: Contribution to journal › Article › Academic › peer-review
  39 Citations (Scopus)
• 2008

  A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation

  Postma, A. V., van de Meerakker, J. B. A., Mathijssen, I. B., Barnett, P., Christoffels, V. M., Ilgun, A., Lam, J., Wilde, A. A. M., Lekanne Deprez, R. H. & Moorman, A. F. M., 2008, In: Circulation Research. 102, 11, p. 1433-1442

  Research output: Contribution to journal › Article › Academic › peer-review
  138 Citations (Scopus)