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Anne-Karin Kahlert

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Articles

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

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By Enrique Audain, Anna Wilsdon, Gregor Dombrowsky, Alejandro Sifrim, Jeroen Breckpot, Yasset Perez-Riverol, Allan Daly, Pavlos Antoniou, Philipp Hofmann, Amilcar Perez-Riverol, Anne-Karin Kahlert, Ulrike Bauer, Thomas Pickardt, Felix Berger, Ingo Daehnert, Sven Dittrich, Hashim Abdul-Khaliq, Frances Bu’Lock, Anselm Uebing, Hans-Heiner Kramer, Vivek N. Iyer, Lars Larsen, Marc-Phillip Hitz, Siobhan Loughna, Sabine Klaassen, J. David Brook
| Nature Verified
Abstract Several studies have demonstrated the value of large-scale human exome and genome data analysis to maximise gene discovery in rare diseases. Using this approach, we have analysed the exomes of 4747 cases and 52,881 controls to identify genes which confer a substantial risk of congenital heart disease (CHD). We identified both rare loss-of-function and missense coding variants in 14 genes, which reached genome-wide significance at FDR 5%.
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Correction: Diagnostic value of partial exome sequencing in developmental disorders

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By Johannes R. Lemke, Laura Gieldon, Luisa Mackenroth, Anne-Karin Kahlert
| PLOS
Notice of republication An incorrect version of Fig 2 was published in error. This article was republished on September 4, 2020, to correct for this error. Please download this article again to view the correct version. Citation: Gieldon L, Mackenroth L, Kahlert A-K, Lemke JR, Porrmann J, Schallner J, et al. (2020) Correction: Diagnostic value of partial exome sequencing in developmental disorders. PLoS ONE 15(9): e0239959.
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