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.

Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data.

Distinct Acute Lymphoblastic Leukemia (ALL)-associated Janus Kinase 3 (JAK3) Mutants Exhibit Different Cytokine-Receptor Requirements and JAK Inhibitor Specificities.

HIPK2-T566 autophosphorylation diversely contributes to UV- and doxorubicin-induced HIPK2 activation.

The sixth international RASopathies symposium: Precision medicine-From promise to practice.

No metagenomic evidence of tumorigenic viruses in cancers from a selected cohort of immunosuppressed subjects.

Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant).

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.

A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl/H-Exchanger, Causes Early-Onset Neurodegeneration.

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.

Functional analysis of variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis.

When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort.

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes.

Visual Function and Ophthalmological Findings in CHARGE Syndrome: Revision of Literature, Definition of a New Clinical Spectrum and Genotype Phenotype Correlation.

Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile.

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.

Mutations at the C-terminus of CDC42 cause distinct hematopoietic and autoinflammatory disorders.

Incremental net benefit of whole genome sequencing for newborns and children with suspected genetic disorders: Systematic review and meta-analysis of cost-effectiveness evidence.

Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.

Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.

Defective peripheral B cell selection in common variable immune deficiency patients with autoimmune manifestations.

Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment.

Organizational Aspects of the Implementation and Use of Whole Genome Sequencing and Whole Exome Sequencing in the Pediatric Population in Italy: Results of a Survey.

Identification of a robust DNA methylation signature for Fanconi anemia.

Bayesian cost-effectiveness analysis of Whole genome sequencing versus Whole exome sequencing in a pediatric population with suspected genetic disorders.

Cost-Effectiveness of Whole-Genome vs Whole-Exome Sequencing Among Children With Suspected Genetic Disorders.

Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.

DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.

Assessment of the FRET-based Teen sensor to monitor ERK activation changes preceding morphological defects in a RASopathy zebrafish model and phenotypic rescue by MEK inhibitor.

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.

SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.

Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.

Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function.

Brain malformations and seizures by impaired chaperonin function of TRiC.

Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants.