Marco Tartaglia

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.

SHOC2 subcellular shuttling requires the KEKE motif-rich region and N-terminal leucine-rich repeat domain and impacts on ERK signalling.

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.

Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies.

Biallelic mutations in early-onset, variably progressive neurodegeneration.

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

Prevalence, Type, and Molecular Spectrum of Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease.

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.

Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature.

Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism.