• 1903 Citations
  • 24 h-Index
1987 …2019
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Fingerprint Dive into the research topics where Laura Bernardini is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 24 Similar Profiles
Intellectual Disability Medicine & Life Sciences
Genes Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Induced Pluripotent Stem Cells Medicine & Life Sciences
Mutation Medicine & Life Sciences
Haploinsufficiency Medicine & Life Sciences
Chromosomes Medicine & Life Sciences
Genetic Association Studies Medicine & Life Sciences

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Research Output 1987 2019

  • 1903 Citations
  • 24 h-Index
  • 120 Article
  • 1 Letter
  • 1 Review article

A novel developmental encephalopathy with epilepsy and hyperkinetic movement disorders associated with a deletion of the sodium channel gene cluster on chromosome 2q24.3

Mastrangelo, M., Mei, D., Cesario, S., Fioriello, F., Bernardini, L., Brinciotti, M., Guerrini, R. & Leuzzi, V., Nov 1 2019, In : Parkinsonism and Related Disorders. 68, p. 1-3 3 p.

Research output: Contribution to journalLetter

Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes

Sinibaldi, L., Parisi, V., Lanciotti, S., Fontana, P., Kuechler, A., Baujat, G., Torres, B., Koetting, J., Splendiani, A., Postorivo, D., Beygo, J., Garaci, F. G., Malan, V., Lüdecke, H-J., Guida, V., Krumbiegel, M., Lonardo, F., Novelli, A., Albrecht, B., Perria, C. & 6 others, Scarano, G., Spielmann, M., Nardone, A. M., Battaglia, A., Brancati, F. & Bernardini, L., 2019, In : Clinical Genetics.

Research output: Contribution to journalArticle

Delineation of MidXq28-Duplication Syndrome Distal to MECP2 and Proximal to RAB39B genes

Sinibaldi, L., Parisi, V., Lanciotti, S., Fontana, P., Kuechler, A., Baujat, G., Torres, B., Koetting, J., Splendiani, A., Postorivo, D., Beygo, J., Garaci, F. G., Malan, V., Hermann-Josef-Lüdecke, Guida, V., Krumbiegel, M., Lonardo, F., Novelli, A., Albrecht, B., Perria, C. & 6 others, Scarano, G., Spielmann, M., Nardone, A., Battaglia, A., Brancati, F. & Bernardini, L., May 15 2019, In : Clinical Genetics.

Research output: Contribution to journalArticle

Genomic Segmental Duplications
Microcephaly
Brain
Intellectual Disability
Nervous System

Epilepsy phenotype in patients with Xp22.31 microduplication

Brinciotti, M., Fioriello, F., Mittica, A., Bernardini, L., Goldoni, M. & Matricardi, M., Jan 1 2019, In : Epilepsy and Behavior Case Reports. 11, p. 31-34 4 p.

Research output: Contribution to journalArticle

Epilepsy
Dyscalculia
Rolandic Epilepsy
Agraphia
Juvenile Myoclonic Epilepsy

Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA)

Bidollari, E., Rotundo, G., Altieri, F., Amicucci, M., Wiquel, D., Ferrari, D., Goldoni, M., Bernardini, L., Consoli, F., De Luca, A., Fanelli, S., Lamorte, G., D'Agruma, L., Vescovi, A. L., Squitieri, F. & Rosati, J., Oct 1 2019, In : Stem Cell Research. 40, 101551.

Research output: Contribution to journalArticle

Open Access
Induced Pluripotent Stem Cells
Atrophy
Cell Line
Dyskinesias
North America