Supplementary Materials

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

Jason Homsy, Samir Zaidi, Yufeng Shen, James S. Ware, Kaitlin E. Samocha, Konrad J. Karczewski, Steven R. DePalma, David McKean, Hiroko Wakimoto, Josh Gorham, Sheng Chih Jin, John Deanfield, Alessandro Giardini, George A. Porter Jr., Richard Kim, Kaya Bilguvar, Francesc López-Giráldez, Irina Tikhonova, Shrikant Mane, Angela Romano-Adesman, Hongjian Qi, Badri Vardarajan, Lijiang Ma, Mark Daly, Amy E. Roberts, Mark W. Russell, Seema Mital, Jane W. Newburger, J. William Gaynor, Roger E. Breitbart, Ivan Iossifov, Michael Ronemus, Stephan J. Sanders, Jonathan R. Kaltman, Jonathan G. Seidman, Martina Brueckner, Bruce D. Gelb, Elizabeth Goldmuntz, Richard P. Lifton, Christine E. Seidman, Wendy K. Chung

Materials/Methods, Supplementary Text, Tables, Figures, and/or References

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  • Materials and Methods
  • Tables S1 to S12
  • Figs. S1 to S3
  • Captions for Databases S1 to S10
  • References (24–29)
  • Additional Acknowledgments

Additional Data

Databases S1 to S10
Database S1: Phenotypes for each case proband, including cardiac, neurodevelopmental disorders and extra-cardiac congenital anomalies.
Database S2: List of de novo Mutations in CHD case cohort.
Database S3: List of de novo Mutations in Control cohort.
Database S4: List of de novo probabilities for each variant class in each protein-coding gene on the Nimblegen V2 exome, adjusted for depth in Cases.
Database S5: List of de novo probabilities for each variant class in each protein-coding gene on the Nimblegen V2 exome, adjusted for depth in Controls.
Database S6: Functional term enrichment analysis of all Genes with Damaging (loss of function + deleterious missense) de novo mutations in all cases.
Database S7: Functional term enrichment analysis of all Genes with Loss of Function de novo mutations in 860 new cases.
Database S8: List of 1,563 variants (1,161 unique genes) with damaging de novo mutations from 7 independent NDD cohorts.
Database S9: Functional term enrichment analysis among 69 genes with Damaging de novo mutations overlapping between CHD cases and the published NDD (P-NDD) cohort.
Database S10: Percentile ranks of genes by expression in the developing mouse heart and brain.