Marco Seri
Università degli Studi di Bologna
H-index: 60
Europe-Italy
Top articles of Marco Seri
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c. 186G> A in KMT2E Gene | Genes | Mario Benvenuto Sofia Cesarini Giulia Severi Enrico Ambrosini Angelo Russo | 2024/3/29 |
miRNA–221 and miRNA–483–3p Dysregulation in Esophageal Adenocarcinoma | Cancers | Isotta Bozzarelli Arianna Orsini Federica Isidori Luca Mastracci Deborah Malvi | 2024/1/30 |
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome | The American Journal of Human Genetics | Vincenzo Salpietro Reza Maroofian Maha S Zaki Jamie Wangen Andrea Ciolfi | 2024/1/4 |
A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19 | Molecular Syndromology | Giulia Parmeggiani Raffaella Minardi Antonella Boni Jacopo Pruccoli Antonella Pini | 2024/4/2 |
Detection of somatic and germline pathogenic variants in adult cohort of drug-resistant focal epilepsies | Epilepsy & Behavior | L Ferri V Menghi L Licchetta P Dimartino R Minardi | 2024/4/1 |
Clinical interpretation of aCGH results in patients with neurodevelopmental disorders by geneticists: impact on diagnostic yield | EUROPEAN JOURNAL OF HUMAN GENETICS | Giulia Olivucci Giulia Severi Paola Visconti Annio Posar MARIA CRISTINA Scaduto | 2023 |
Prevalence of unruptured intracranial aneurysms in patients with Marfan syndrome: A cross-sectional study and meta-analysis | European Stroke Journal | Gianfranco Vornetti Sara Rosa Maria De Martino Maria Chiara Baroni Cesare Rossi Marco Seri | 2023/6 |
Monoallelicde novovariants inDDX17cause a novel neurodevelopmental disorder | EG Seaby A Godwin V Clerc G Meyer-Dilhet X Grand | 2023/10/15 | |
Monoallelic de novo variants in DDX17 cause a novel neurodevelopmental disorder | medRxiv | Eleanor G Seaby Annie Godwin Valentine Clerc Geraldine Meyer-Dilhet Xavier Grand | 2023 |
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability | The American Journal of Human Genetics | Elke Bogaert Aurore Garde Thierry Gautier Kathleen Rooney Yannis Duffourd | 2023/5/4 |
Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q | Open biology | Chiara Diquigiovanni Nicola Rizzardi Antje Kampmeier Irene Liparulo Francesca Bianco | 2023/7/12 |
Molecular and clinical links between drug-induced cholestasis and familial intrahepatic cholestasis | Giovanni Vitale Alessandro Mattiaccio Amalia Conti Sonia Berardi Vittoria Vero | 2023/3/18 | |
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup | Haematologica | Caterina Marconi Alessandro Pecci Flavia Palombo Federica Melazzini Roberta Bottega | 2023/7/7 |
Behavioral profiling in children and adolescents with Malan syndrome | Frontiers in Child and Adolescent Psychiatry | Paolo Alfieri Federica Alice Maria Montanaro Marina Macchiaiolo Martina Collotta Cristina Caciolo | 2023/2/21 |
A New COL1A1 Mutation Associated With Type I Osteogenesis Imperfecta: Treatment Options for a Woman of Childbearing Age | Sabrina Berti Elena Luppi Marco Seri Guido Zavatta | 2023/7 | |
miRNA-221 and miRNA-483-3p Dysregulation Correlated with Poor Survival in Esophageal Adenocarcinoma | Isotta Bozzarelli Federica Isidori Arianna Orsini Luca Mastracci Deborah Malvi | 2023/12/11 | |
Ultra-Rare Variants Identify Biological Pathways and Candidate Genes in the Pathobiology of Non-Syndromic Cleft Palate Only | Biomolecules | Emanuela Iovino Luca Scapoli Annalisa Palmieri Rossella Sgarzani Nayereh Nouri | 2023/1/26 |
# 5496 EVALUATION OF THE PREDICTIVE ABILITY AND CONCORDANCE OF PROGNOSTIC SCORES FOR RAPID PROGRESSION IN ADPKD: A MULTICENTER COHORT | Nephrology Dialysis Transplantation | Valeria Aiello Elhussein Elhassan Carlotta Cristalli Andreina Minicucci Anna Vella | 2023/6 |
Correlations Between Cardiac Magnetic Resonance and Myocardial Histologic Findings in Fabry Disease | Cardiovascular Imaging | Raffaello Ditaranto Ornella Leone Luigi Lovato Fabio Niro Giovanna Cenacchi | 2023/12/1 |
Clinical-genetic features influencing disability in spastic paraplegia type 4: a cross-sectional study by the Italian DAISY network | Neurology: Genetics | Salvatore Rossi Anna Rubegni Vittorio Riso Melissa Barghigiani Maria Teresa Bassi | 2022/3/30 |
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