LB
Laura Bernardini
IRCCS Casa Sollievo della Sofferenza Foundation, Sapienza University of Rome
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Genomic variations and chromosomal abnormalities · Genomics and Rare Diseases · Genetics and Neurodevelopmental Disorders
0000-0002-3554-2817
Employment
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IRCCS Casa Sollievo della Sofferenza Foundation Cytogenetics and Molecular Cytogenetics Laboratory Manager2015 - Present
Education
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Sapienza University of Rome Postgraduate School of “Medical Genetics”2001 - 2005
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Sapienza University of Rome Biological Sciences Master's Degree1994 - 2000
Projects & Funding
Projects & funding information is unavailable.
Publications (131)
- Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region Save
- Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes Save
- Clinical Risk Factors for Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome: A Longitudinal Single-Center Study Save
- 3′UTR Deletion of NONO Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein’s Anomaly in a Male Fetus Save
- Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis Save
- 3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature Save
- A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome Save
- Critical prenatal diagnosis and management of incidental exon 43–44 deletion in the dystrophin gene Save
- Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype Save
- Altered Expression of Candidate Genes in Mayer–Rokitansky–Küster–Hauser Syndrome May Influence Vaginal Keratinocytes Biology: A Focus on Protein Kinase X Save
- Protein-protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer-Rokitansky-Küster-Hauser syndrome. Save
- Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS) Save
- Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects Save
- Generation of an induced pluripotent stem cell line (CSS012-A (7672)) carrying the p.G376D heterozygous mutation in the TARDBP protein Save
- Occurrence of chronic myeloid leukemia in a patient with CDC73 gene deletion: “Chance or Causality?” Save
- Autism and severe clinical phenotype in a patient with 8p21.2p11.21 deletion: Case report and literature review. Save
- Identification of a De Novo Xq26.2 Microduplication Encompassing FIRRE Gene in a Child with Intellectual Disability Save
- Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes. Save
- 12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A. Save
- Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplication. Save