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Research Output 2016 2019

2019

Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication

Zanella, M., Vitriolo, A., Andirko, A., Martins, P. T., Sturm, S., O'Rourke, T., Laugsch, M., Malerba, N., Skaros, A., Trattaro, S., Germain, P. L., Mihailovic, M., Merla, G., Rada-Iglesias, A., Boeckx, C. & Testa, G., Dec 1 2019, In : Science Advances. 5, 12, p. eaaw7908

Research output: Contribution to journalArticle

Open Access
stem cells
genes
dosage
dissection
chromatin
2018

The guanine nucleotide exchange factor Arhgef7/βPix promotes axon formation upstream of TC10

López Tobón, A., Suresh, M., Jin, J., Vitriolo, A., Pietralla, T., Tedford, K., Bossenz, M., Mahnken, K., Kiefer, F., Testa, G., Fischer, K-D. & Püschel, A. W., Jun 11 2018, In : Scientific Reports. 8, 1, p. 8811

Research output: Contribution to journalArticle

Guanine Nucleotide Exchange Factors
Axons
GTP Phosphohydrolases
Neurons
Monomeric GTP-Binding Proteins
2017

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

Gabriele, M., Vulto-van Silfhout, A. T., Germain, P. L., Vitriolo, A., Kumar, R., Douglas, E., Haan, E., Kosaki, K., Takenouchi, T., Rauch, A., Steindl, K., Frengen, E., Misceo, D., Pedurupillay, C. R. J., Stromme, P., Rosenfeld, J. A., Shao, Y., Craigen, W. J., Schaaf, C. P., Rodriguez-Buritica, D. & 31 others, Farach, L., Friedman, J., Thulin, P., McLean, S. D., Nugent, K. M., Morton, J., Nicholl, J., Andrieux, J., Stray-Pedersen, A., Chambon, P., Patrier, S., Lynch, S. A., Kjaergaard, S., Tørring, P. M., Brasch-Andersen, C., Ronan, A., van Haeringen, A., Anderson, P. J., Powis, Z., Brunner, H. G., Pfundt, R., Schuurs-Hoeijmakers, J. H. M., van Bon, B. W. M., Lelieveld, S., Gilissen, C., Nillesen, W. M., Vissers, L. E. L. M., Gecz, J., Koolen, D. A., Testa, G. & de Vries, B. B. A., Jun 1 2017, In : American Journal of Human Genetics. 100, 6, p. 907-925 19 p.

Research output: Contribution to journalArticle

Yin-Yang
Haploinsufficiency
Intellectual Disability
Chromatin
Sequence Deletion
2016

RNAontheBENCH: Computational and empirical resources for benchmarking RNAseq quantification and differential expression methods

Germain, P. L., Vitriolo, A., Adamo, A., Laise, P., Das, V. & Testa, G., Jun 20 2016, In : Nucleic Acids Research. 44, 11, p. 5054-5067 14 p.

Research output: Contribution to journalArticle

RNA Sequence Analysis
Benchmarking
Gene Expression Profiling
Genes
Libraries