• 954 Citations
  • 14 h-Index
19912016
If you made any changes in Pure these will be visible here soon.

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

  • 7 Similar Profiles
Osteopetrosis Medicine & Life Sciences
Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Cosmids Medicine & Life Sciences
Clone Cells Medicine & Life Sciences
Zinc Fingers Medicine & Life Sciences
Chromosomes, Human, X Medicine & Life Sciences
X Chromosome Medicine & Life Sciences

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

Research Output 1991 2016

  • 954 Citations
  • 14 h-Index
  • 32 Article
4 Citations (Scopus)

Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis

Palagano, E., Susani, L., Menale, C., Ramenghi, U., Berger, M., Uva, P., Oppo, M., Vezzoni, P., Villa, A. & Sobacchi, C., 2016, (Accepted/In press) In : Journal of Bone and Mineral Research.

Research output: Contribution to journalArticle

Osteopetrosis
Genes
Exome
Recessive Genes
Hematopoietic Stem Cell Transplantation

Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis

Palagano, E., Susani, L., Menale, C., Ramenghi, U., Berger, M., Uva, P., Oppo, M., Vezzoni, P., Villa, A. & Sobacchi, C., 2016, (Accepted/In press) In : Journal of Bone and Mineral Research.

Research output: Contribution to journalArticle

Osteopetrosis
Genes
Exome
Recessive Genes
Hematopoietic Stem Cell Transplantation
9 Citations (Scopus)
Clustered Regularly Interspaced Short Palindromic Repeats
Fluorescence In Situ Hybridization
Plasmids
X-Linked Genes
DNA
3 Citations (Scopus)

Chromosome transplantation as a novel approach for correcting complex genomic disorders

Paulis, M., Castelli, A., Susani, L., Lizier, M., Lagutina, I., Focarelli, M. L., Recordati, C., Uva, P., Faggioli, F., Neri, T., Scanziani, E., Galli, C., Lucchini, F., Villa, A. & Vezzoni, P., 2015, In : Oncotarget. 6, 34, p. 35218-35230 13 p.

Research output: Contribution to journalArticle

X Chromosome
Chromosomes
Transplantation
Genome
Induced Pluripotent Stem Cells
12 Citations (Scopus)
Osteopetrosis
Mutation
Genes
Phenotype
Proton Pumps