Author details

Full Name

Marco Tartaglia

Affiliation

ORCID

Career Start Year

1985

Papers

432

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37510243	The "FEEDS (FEeding Eating Deglutition Skills)" over Time Study in Cardiofaciocutaneous Syndrome.		2023
36224108	Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.	Clin Genet	2023
36018820	Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.	Hum Mol Genet	2023
35794250	RASopathies and sigmoid-shaped ventricular septum morphology: evidence of a previously unappreciated cardiac phenotype.	Pediatric Research	2023
36322151	Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.	Genet Med	2023
37943120	Status epilepticus in BRAF-related cardio-facio-cutaneous syndrome: focus on neuroimaging clues to physiopathology.		2023
37831762	Molecular basis of ClC-6 function and its impairment in human disease.		2023
37588986	Lipid profile in Noonan syndrome and related disorders: trend by age, sex and genotype.		2023
37813867	Author Correction: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.	Nat Commun	2023
37895192	From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome.		2023
37981895	Germline bi-allelic alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder.		2023
37636262	Case Report: Sequential postzygotic <i>HRAS</i> mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving <i>HRAS</i> in oncogenic transformation.	Front Genet	2023
37975990	Bayesian cost-effectiveness analysis of Whole genome sequencing versus Whole exome sequencing in a pediatric population with suspected genetic disorders.	Eur J Health Econ	2023
37697822	Systematic ophthalmologic evaluation in cardio-facio-cutaneous syndrome: A genotype-endophenotype correlation.		2023
37865086	Identification of a robust DNA methylation signature for Fanconi anemia.		2023
37092538	De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.	Genet Med	2023
37344639	Molecular and cellular evidence for the impact of a hypertrophic cardiomyopathy-associated RAF1 variant on the structure and function of contractile machinery in bioartificial cardiac tissues.	Commun Biol	2023
36586412	Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.	Am J Hum Genet	2023
37403762	Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder.	Genet Med	2023
36901584	The Right to Ask, the Need to Answer-When Patients Meet Research: How to Cope with Time.		2023
36824420	Case report: Novel compound heterozygosity for pathogenic variants in <i>MED23</i> in a syndromic patient with postnatal microcephaly.	Front Neurol	2023
37398376	Loss-of-function variants in <i>CUL3</i> cause a syndromic neurodevelopmental disorder.	medRxiv	2023
36705342	DNA methylation signature classification of rare disorders using publicly available methylation data.		2023
37199218	Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines.	Circ Genom Precis Med	2023
36757675	Further case of enlarged spinal nerve roots in KRAS-related Noonan syndrome.	Clin Genet	2023
37455656	Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.		2023
37391113	Understanding the pathogenetic mechanisms underlying altered neuronal function associated with CAMK2B mutations.		2023
37324589	The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in .		2023
37262986	Male breast cancer risk associated with pathogenic variants in genes other than BRCA1/2: an Italian case-control study.	Eur J Cancer	2023
36879111	Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes.	Eur J Hum Genet	2023
37119135	Defective peripheral B cell selection in common variable immune deficiency patients with autoimmune manifestations.		2023
37059841	Clinical profiling of MRD48 and functional characterization of two novel pathogenic RAC1 variants.	Eur J Hum Genet	2023
36800035	Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome.		2023
37373888	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.	J Pers Med	2023
37175696	CRISPR/Cas9 and Transposon-Based Conversion of a Pathogenic Biallelic Variant in a Patient-Derived iPSC Line Allows Correction of PEBAT-Related Endophenotypes.		2023
36734411	Natural history of MRAS-related Noonan syndrome: Evidence of mild adult-onset left ventricular hypertrophy and neuropsychiatric features.	Am J Med Genet C Semin Med Genet	2023
36681873	A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.	Genet Med	2023
37293858	Reversing vemurafenib-resistance in primary melanoma cells by combined romidepsin and type I IFN treatment through blocking of tumorigenic signals and induction of immunogenic effects.		2023
37231492	Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment.	Arch Public Health	2023
36853789	Pediatric BCOR-Altered Tumors From Soft Tissue/Kidney Display Specific DNA Methylation Profiles.		2023
37165752	POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.	Clin Genet	2023
37041138	Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.	Nat Commun	2023
36980822	Prenatal Clinical Findings in <i>RASA1</i>-Related Capillary Malformation-Arteriovenous Malformation Syndrome.	Genes (Basel)	2023
36599940	Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.	Eur J Hum Genet	2023
37521304	Case report: Expanding the phenotype of <i>FOXP1</i>-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures.	Front Neurol	2023
35101635	Metabolic profiling of Costello syndrome: Insights from a single-center cohort.	European Journal of Medical Genetics	2022
35396703	SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction.	Clin Genet	2022
35772801	Brain Abnormalities in Patients with Germline Variants in <i>H3F3</i>: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors.	AJNR Am J Neuroradiol	2022
36369169	Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish.	Nat Commun	2022
36044892	Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-HuÃ«t anomaly.	Am J Hum Genet	2022