• 25 Citations
  • 1 h-Index
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Fingerprint Dive into the research topics where Ivana Matera is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

Hirschsprung Disease Medicine & Life Sciences
Exome Medicine & Life Sciences
Genome-Wide Association Study Medicine & Life Sciences
Meta-Analysis Medicine & Life Sciences
Enteric Nervous System Medicine & Life Sciences
nervous system Earth & Environmental Sciences
gene Earth & Environmental Sciences
Genes Medicine & Life Sciences

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Research Output 2016 2017

  • 25 Citations
  • 1 h-Index
  • 2 Article
25 Citations (Scopus)

Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes

Gui, H., Schriemer, D., Cheng, W. W., Chauhan, R. K., Antiňolo, G., Berrios, C., Bleda, M., Brooks, A. S., Brouwer, R. W. W., Burns, A. J., Cherny, S. S., Dopazo, J., Eggen, B. J. L., Griseri, P., Jalloh, B., Le, T-L., Lui, V. C. H., Luzón-Toro, B., Matera, I., Ngan, E. S. W. & 20 others, Pelet, A., Ruiz-Ferrer, M., Sham, P. C., Shepherd, I. T., So, M-T., Sribudiani, Y., Tang, C. S. M., van den Hout, M. C. G. N., van der Linde, H. C., van Ham, T. J., van IJcken, W. F. J., Verheij, J. B. G. M., Amiel, J., Borrego, S., Ceccherini, I., Chakravarti, A., Lyonnet, S., Tam, P. K. H., Garcia-Barceló, M-M. & Hofstra, R. M. W., Mar 8 2017, In : Genome Biology. 18, 1, p. 48

Research output: Contribution to journalArticle

Hirschsprung Disease
Enteric Nervous System
nervous system

Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease

Tang, C. S-M., Gui, H., Kapoor, A., Kim, H. J., Luzón-Toro, B., Pelet, A., Burzynski, G. M., Lantieri, F., So, M. T., Berrios, C., Shin, H. D., Fernández, R. M., Le, T-L., Verheij, J. B. G. M., Matera, I., Cherny, S. S., Nandakumar, P., Cheong, H. S., Antiñolo, G., Amiel, J. & 12 others, Seo, J-M., Kim, D-Y., Oh, J-T., Lyonnet, S., Borrego, S., Ceccherini, I., Hofstra, R. M. W., Chakravarti, A., Kim, H-Y., Sham, P. C., Tam, P. K. H. & Garcia-Barceló, M-M., Oct 3 2016, In : Human Molecular Genetics.

Research output: Contribution to journalArticle

Hirschsprung Disease
Genome-Wide Association Study
Odds Ratio
Lower Gastrointestinal Tract