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Genetics and Rare Diseases Research Division
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Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.
American journal of human genetics Apr, 2016 | Pubmed ID: 27040692
SHOC2 subcellular shuttling requires the KEKE motif-rich region and N-terminal leucine-rich repeat domain and impacts on ERK signalling.
Human molecular genetics 09, 2016 | Pubmed ID: 27466182
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.
American journal of human genetics Oct, 2016 | Pubmed ID: 27666369
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
American journal of human genetics Oct, 2016 | Pubmed ID: 27666370
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.
American journal of human genetics 02, 2018 | Pubmed ID: 29394990
Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies.
Archives of oral biology Jul, 2018 | Pubmed ID: 29705498
Biallelic mutations in early-onset, variably progressive neurodegeneration.
Neurology 07, 2018 | Pubmed ID: 29959261
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.
American journal of human genetics 10, 2018 | Pubmed ID: 30290154
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.
American journal of human genetics 06, 2019 | Pubmed ID: 31130282
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
American journal of human genetics 09, 2019 | Pubmed ID: 31447100
Prevalence, Type, and Molecular Spectrum of Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease.
Genes 09, 2019 | Pubmed ID: 31487937
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.
The Journal of experimental medicine 12, 2019 | Pubmed ID: 31601675
Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature.
Clinical epigenetics Jan, 2020 | Pubmed ID: 31910894
Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism.
Parkinsonism & related disorders 03, 2020 | Pubmed ID: 32120303
Ospedale Pediatrico Bambino Gesù, IRCCS
Valentina Magliocca1,2,
Maria Vinci3,
Tiziana Persichini2,
Franco Locatelli3,
Marco Tartaglia1,
Claudia Compagnucci1
1Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS,
2Department of Science, University Roma Tre,
3Department of Onco-hematology, Gene and Cell Therapy, Ospedale Pediatrico Bambino Gesù, IRCCS
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