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Paola Dimartino

Expanding Phenotype of Schimke Immuno-Osseous Dysplasia: Congenital Anomalies of the Kidneys and of the Urinary Tract and Alteration of NK Cells
2020 · Cristina Bertulli, Antonio Marzollo, et al. · International Journal of Molecular Sciences · 42
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Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder?
2020 · Renzo Guerrini, Mara Cavallin, et al. · Neurology Genetics · 33
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Spontaneous remission in a Diamond‐Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation
2018 · Emanuela Garelli, Paola Quarello, et al. · British Journal of Haematology · 30
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
2023 · Chiara Giovenino, Slavica Trajkova, et al. · European Journal of Human Genetics · 29
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Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis
2020 · Lisa Pavinato, Marina Villamor-Payà, et al. · Journal of Medical Genetics · 17
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Expanding the clinical phenotype of the ultra‐rare Skraban‐Deardorff syndrome: Two novel individuals with WDR26 loss‐of‐function variants and a literature review
2021 · Lisa Pavinato, Slavica Trajkova, et al. · American Journal of Medical Genetics Part A · 16
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity
2024 · Slavica Trajkova, Jennifer Kerkhof, et al. · Human Genetics and Genomics Advances · 11
Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease
2025 · Elisa Rubino, Maria Italia, et al. · Alzheimer s Research & Therapy · 9
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Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult‐Onset Demyelinating Leukodystrophy
2024 · Paola Dimartino, Mariia Zadorozhna, et al. · Annals of Neurology · 8
Detection of somatic and germline pathogenic variants in adult cohort of drug-resistant focal epilepsies
2024 · L. Ferri, V. Menghi, et al. · Epilepsy & Behavior · 7
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes
2020 · Paola Dimartino, Valeria Mariani, et al. · Molecular Diagnosis & Therapy · 5
Pathology and Genetics in a Global Cohort of Parkinsonian Disorders
2026 · Lesley Y. Wu, Tessa du Toit, et al. · JAMA Neurology · 4
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The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade
2026 · Simona Cardaropoli, Lisa Pavinato, et al. · Human Genetics · 1
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Editorial: “Next-Generation Sequencing in Rare Genetic Diseases”
2026 · Edoardo Errichiello, Paola Dimartino · Genes
Clustering Algorithm Reveals Dopamine‐Motor Mismatch in Cognitively Preserved Parkinson's Disease
2026 · Rachele Malito, Chiara Meneghini, et al. · Annals of Clinical and Translational Neurology
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A 'leaky' hypomorphic splicing variant in BLTP1 explains prolonged survival in a patient with Alkuraya-Kučinskas syndrome
2026 · Francesco Pintus, Elena Sukarova-Angelovska, et al. · SSRN Electronic Journal
Addressing Interpretative Pitfalls in Neurodevelopmental Disorder Diagnostics: The NeuroWES Macedonia Experience
2026 · Slavica Trajkova, Simona Cardaropoli, et al. · Human Mutation
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DAT-SPECT profiling for biological definition of two prospective Parkinson’s disease cohorts
2025 · Rachele Malito, Chiara Meneghini, et al. · medRxiv
UBE2I mutations unveil the critical role of the SUMOylation pathway in syndromic autism
2024 · Verdiana Pullano, Slavica Trajkova, et al. · Institutional Research Information System University of Turin (University of Turin)
Copy number variant (CNV) detection using exome sequencing data in neurodevelopmental disorders (NDDs)
2023 · Serena Rizzo, Slavica Trajkova, et al. · Institutional Research Information System University of Turin (University of Turin)
Family-based whole exome sequencing allows a 25% diagnostic yield in patients with autism spectrum disorder
2020 · Diana Carli, Elisa Giorgio, et al. · Institutional Research Information System University of Turin (University of Turin)
SETBP1 gene variants: from Schinzel-Giedion syndrome to mild neurodevelopmental disorder, a challenge for the clinician
2020 · Moroni A, Carli D, et al. · Institutional Research Information System University of Turin (University of Turin)
Works count: 26
Citation count: 212
H-index: 8
I10-index: 7
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