• 786 Citations
  • 11 h-Index
19982019
If you made any changes in Pure these will be visible here soon.

Fingerprint Dive into the research topics where Lucia Castiglia is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 28 Similar Profiles
Intellectual Disability Medicine & Life Sciences
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Epilepsy Medicine & Life Sciences
Mutation Medicine & Life Sciences
Electroencephalography Medicine & Life Sciences
Partial Epilepsy Medicine & Life Sciences
Chromosome Deletion Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 1998 2019

  • 786 Citations
  • 11 h-Index
  • 31 Article
Ataxia
Intellectual Disability
Atrophy
Single Nucleotide Polymorphism
Psychiatry
2 Citations (Scopus)

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

Romano Corrado, Jan 1 2019, (Accepted/In press) In : European Journal of Human Genetics.

Research output: Contribution to journalArticle

Intellectual Disability
Lip
Ubiquitin-Protein Ligase Complexes
Cullin Proteins
F-Box Proteins
1 Citation (Scopus)
Chromatin Assembly and Disassembly
Brain Diseases
Atrophy
Neurons
Mutation
10 Citations (Scopus)

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Pizzo, L., Jensen, M., Polyak, A., Rosenfeld, J. A., Mannik, K., Krishnan, A., McCready, E., Pichon, O., Le Caignec, C., Van Dijck, A., Pope, K., Voorhoeve, E., Yoon, J., Stankiewicz, P., Cheung, S. W., Pazuchanics, D., Huber, E., Kumar, V., Kember, R. L., Mari, F. & 36 others, Curró, A., Castiglia, L., Galesi, O., Avola, E., Mattina, T., Fichera, M., Mandarà, L., Vincent, M., Nizon, M., Mercier, S., Bénéteau, C., Blesson, S., Martin-Coignard, D., Mosca-Boidron, A. L., Caberg, J. H., Bucan, M., Zeesman, S., Nowaczyk, M. J. M., Lefebvre, M., Faivre, L., Callier, P., Skinner, C., Keren, B., Perrine, C., Prontera, P., Marle, N., Renieri, A., Reymond, A., Kooy, R. F., Isidor, B., Schwartz, C., Romano, C., Sistermans, E., Amor, D. J., Andrieux, J. & Girirajan, S., Jan 1 2018, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Phenotype
Genes
Exome
Gene Dosage
Autistic Disorder
1 Citation (Scopus)

7q11.23 microduplication syndrome: neurophysiological and neuroradiological insights into a rare chromosomal disorder

Castiglia, L., Husain, R. A., Marquardt, I., Fink, C., Liehr, T., Elia, M. & Coci, E. G., Dec 20 2017, In : Journal of Intellectual Disability Research.

Research output: Contribution to journalArticle

Chromosome Disorders
Electroencephalography
Seizures
Williams Syndrome
Psychology