Marco Tartaglia

Université de Bordeaux — France

Biochemistry, Genetics and Molecular Biology · Life Sciences

78h-index26.4kcitations676works4.52yr avg
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Research Topics

Protein Tyrosine Phosphatases(227), Galectins and Cancer Biology(142), RNA modifications and cancer(90), Genomics and Rare Diseases(85), Genetics and Neurodevelopmental Disorders(74)

Publications662 total

Interpreting the functional impact of genetic variants: The need for context qualifiers
The American Journal of Human Genetics·2025Open Access
Solid Tumors in RASopathies: Insights from a Large Monocentric Cohort and Systematic Review of the Literature
2025Open Access
To sign or not to sign: Is this still the question?
European Journal of Human Genetics·2025Open Access
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer
The Breast·2025Open Access
Germinal center trajectories and transcriptional signatures define CLL subtypes and their pathway regulators
PLoS ONE·2025Open Access
Domain-Specific Phenotypic Profiles in RAF1-Related Noonan Syndrome
2025Open Access
Genotype–phenotype correlations with autism spectrum disorder-related traits in Noonan syndrome and Noonan syndrome with multiple lentigines: a cross-sectional study
Molecular Autism·2025Open Access
The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles
Genes·2025· 1 citedOpen Access
P10.15.B CANCER PREDISPOSITION SYNDROMES IN PEDIATRIC PATIENTS WITH HIGH-GRADE GLIOMAS
Neuro-Oncology·2025Open Access
SAT-196 Noonan Syndrome: Genotype-Phenotype Correlations and Clinical Variability
Journal of the Endocrine Society·2025Open Access
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective
European Journal of Human Genetics·2025· 1 citedOpen Access
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
Journal of Clinical Investigation·2025· 2 citedOpen Access
PIGC-related encephalopathy: Lessons learned from 18 new probands
European Journal of Human Genetics·2025Open Access
ADSL deficiency is a secondary mitochondrial disease affecting organelle homeostasis and ERK2/AKT signaling in a linear genotype-phenotype relation
Cell Reports·2025· 2 citedOpen Access
Biallelic BAIAP3 Variants Are Associated with Isolated Retinitis Pigmentosa
International Journal of Molecular Sciences·2025Open Access
Genome-wide DNA methylation analysis identifies kidney epigenetic dysregulation in a cystinosis mouse model
Frontiers in Cell and Developmental Biology·2025· 3 citedOpen Access
Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency
Genes·2025Open Access
Missense variants in <i>TUBA4A</i> cause myo-tubulinopathies
2025· 1 citedOpen Access
Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Nature Medicine·2025Open Access
Diagnosis of Angelman Syndrome, With 66 Years of Delay, Using Hypothesis‐Free <scp>DNA</scp> Methylation Profiling
Clinical Genetics·2025· 1 citedOpen Access
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Frequent Co-authors

Bruce D. Gelb(26), Giuseppe Zampino(15), Bruno Dallapiccola(14), Simone Martinelli(10), M. Cristina Digilio(10), Francesca Romana Lepri(8), Cesare Rossi(8), Lorenzo Stella(8), Francesca Pantaleoni(8), Andrea Ciolfi(8), Martin Zenker(7), Anna Sárközy(6), Claudio Carta(6), Laura Mazzanti(6), Elisabetta Flex(6), Viviana Cordeddu(6), Michael A. Patton(5), Ineke van der Burgt(5), Angelo Selicorni(5), Philippe M. Campeau(5)