• 263 Citations
  • 7 h-Index
20052019
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Fingerprint Dive into the research topics where Lucia Rosa Maria Grillo is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 25 Similar Profiles
Intellectual Disability Medicine & Life Sciences
Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Haploinsufficiency Medicine & Life Sciences
Autistic Disorder Medicine & Life Sciences
Chromosome Deletion Medicine & Life Sciences
Microcephaly Medicine & Life Sciences

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Research Output 2005 2019

  • 263 Citations
  • 7 h-Index
  • 16 Article
1 Citation (Scopus)
Chromatin Assembly and Disassembly
Brain Diseases
Atrophy
Neurons
Mutation
5 Citations (Scopus)

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Jansen, S., Hoischen, A., Coe, B. P., Carvill, G. L., van Esch, H., Bosch, D. G. M., Andersen, U. A., Baker, C., Bauters, M., Bernier, R. A., van Bon, B. W., Claahsen-van der Grinten, H. L., Gecz, J., Gilissen, C., Grillo, L., Hackett, A., Kleefstra, T., Koolen, D., Kvarnung, M., Larsen, M. J. & 21 others, Marcelis, C., McKenzie, F., Monin, M. L., Nava, C., Schuurs-Hoeijmakers, J. H., Pfundt, R., Steehouwer, M., Stevens, S. J. C., Stumpel, C. T., Vansenne, F., Vinci, M., van de Vorst, M., Vries, P. D., Witherspoon, K., Veltman, J. A., Brunner, H. G., Mefford, H. C., Romano, C., Vissers, L. E. L. M., Eichler, E. E. & de Vries, B. B. A., Dec 5 2017, (Accepted/In press) In : European Journal of Human Genetics. p. 1-10 10 p.

Research output: Contribution to journalArticle

Haploinsufficiency
Intellectual Disability
Genotype
Phenotype
Mutation
37 Citations (Scopus)

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

Stessman, H. A. F., Willemsen, M. H., Fenckova, M., Penn, O., Hoischen, A., Xiong, B., Wang, T., Hoekzema, K., Vives, L., Vogel, I., Brunner, H. G., Van Der Burgt, I., Ockeloen, C. W., Schuurs-Hoeijmakers, J. H., Klein Wassink-Ruiter, J. S., Stumpel, C., Stevens, S. J. C., Vles, H. S., Marcelis, C. M., Van Bokhoven, H. & 31 others, Cantagrel, V., Colleaux, L., Nicouleau, M., Lyonnet, S., Bernier, R. A., Gerdts, J., Coe, B. P., Romano, C., Alberti, A., Grillo, L., Scuderi, C., Nordenskjöld, M., Kvarnung, M., Guo, H., Xia, K., Piton, A., Gerard, B., Genevieve, D., Delobel, B., Lehalle, D., Perrin, L., Prieur, F., Thevenon, J., Gecz, J., Shaw, M., Pfundt, R., Keren, B., Jacquette, A., Schenck, A., Eichler, E. E. & Kleefstra, T., Mar 3 2016, In : American Journal of Human Genetics. 98, 3, p. 541-552 12 p.

Research output: Contribution to journalArticle

Intellectual Disability
Exome
Language Development Disorders
Mutation
Microcephaly

Identification of novel mutations in L1CAM gene by a DHPLC-based assay

Vinci, M., Falco, M., Castiglia, L., Grillo, L., Spalletta, A., Sturnio, M., Galesi, O., Salemi, M., Gloria, A., Amata, S., Piccione, M., Antona, V., Vitello, G. A. & Fichera, M., Aug 9 2016, (Accepted/In press) In : Genes and Genomics. p. 1-6 6 p.

Research output: Contribution to journalArticle

Neural Cell Adhesion Molecule L1
Assays
Genes
Mutation
Paraplegia
2 Citations (Scopus)

A peculiar VNTR in the cystathionine β-synthase gene is a risk factor for Down syndrome

Salemi, M., Barone, C., Romano, C., Salluzzo, M. G., Giambirtone, M., Morale, M. C., Calogero, A. E., Grillo, L., Bosco, P. & Romano, C., 2015, In : Cellular and Molecular Biology. 61, 5, p. 49-51 3 p.

Research output: Contribution to journalArticle

Cystathionine
Minisatellite Repeats
Poisons
Enzyme activity
Chromosomes