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Genetics

D-Index
61
Citations
14514
World Ranking
3054
National Ranking
61

Overview

Marco Seri is affiliated with the University of Bologna in Italy and has a research focus primarily on genetics and molecular biology within the medical sciences. Their research spans topics related to genetic and neurodevelopmental disorders, genomics and rare diseases, and the study of genomic variations and chromosomal abnormalities. Seri's work also covers specialized areas such as genetic and kidney cyst diseases, congenital heart defects research, genetic syndromes and imprinting, and autism spectrum disorder research.

Among the recent publications attributed to Marco Seri are the following works:

  • ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population, 2020, European Journal of Human Genetics
  • Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum, 2020, The American Journal of Human Genetics
  • A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome, 2020, Genetics in Medicine
  • Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families, 2020, Frontiers in Genetics
  • Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late, 2020, Clinical Genetics

Marco Seri frequently collaborates with a core group of coauthors, including Tommaso Pippucci, Pamela Magini, Claudio Graziano, Elena Bonora, and Flavia Palombo. These collaborators appear repeatedly in the scientist's publications, indicating ongoing research partnerships.

The most frequent publication venues where Seri's work appears include The American Journal of Human Genetics, bioRxiv (Cold Spring Harbor Laboratory), Brain, International Journal of Molecular Sciences, and Genes. These journals reflect the interdisciplinary nature of Seri's research intersecting genetics, neuroscience, and molecular biology.

In terms of academic fields, Seri's output is categorized primarily within Biochemistry, Genetics and Molecular Biology, and Medicine. The subfields with the highest number of publications contributed to by Seri are Genetics, Molecular Biology, Cancer Research, Oncology, and Psychiatry and Mental Health. This distribution underscores their focus on genetic mechanisms in health and disease, including psychiatry and oncology contexts.

Best Publications

  • Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

    Giovanni Romeo;Patrizia Ronchetto;Yin Luo;Virginia Barone

  • Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene

    Alison J. Coffey;Robert A. Brooksbank;Oliver Brandau;Toshitaka Oohashi

  • Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.

    Seri M;Cusano R;Gangarossa S;Caridi G

  • Identifying Gene-Environment Interactions in Schizophrenia: Contemporary Challenges for Integrated, Large-scale Investigations

    Jim van Os;Jim van Os;Bart P. Rutten;Inez Myin-Germeys;Philippe Delespaul

  • Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families

    Patrizia Noris;Silverio Perrotta;Marco Seri;Alessandro Pecci

  • MYH9-Related Disease: May-Hegglin Anomaly, Sebastian Syndrome, Fechtner Syndrome, and Epstein Syndrome Are not Distinct Entities but Represent a Variable Expression of a Single Illness

    Marco Seri;Alessandro Pecci;Filomena Di Bari;Roberto Cusano

  • Correlation of mutations of the SH2D1A gene and Epstein-Barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease

    Janos Sumegi;Dali Huang;Arpad Lanyi;Jack D. Davis

  • RET mutations in exons 13 and 14 of FMTC patients.

    Bolino A;Schuffenecker I;Luo Y;Seri M

  • ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population.

    Elisa Benetti;Rossella Tita;Ottavia Spiga;Andrea Ciolfi

  • EXCAVATOR: detecting copy number variants from whole-exome sequencing data

    Alberto Magi;Lorenzo Tattini;Ingrid Cifola;Romina D’Aurizio

  • Prevalence, Genetics, and Clinical Features of Patients Carrying Podocin Mutations in Steroid-Resistant Nonfamilial Focal Segmental Glomerulosclerosis

    Gianluca Caridi;Roberta Bertelli;Alba Carrea;Marco Di Duca

  • Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.

    Tommaso Pippucci;Anna Savoia;Silverio Perrotta;Núria Pujol-Moix

  • Loss of function effect of RET mutations causing Hirschsprung disease

    Barbara Pasini;Maria Grazia Borrello;Angela Greco;Italia Bongarzone

  • Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease

    Alessandro Pecci;Emanuele Panza;Núria Pujol-Moix;Catherine Klersy

  • MEFV mutations in Behçet's disease.

    Isabelle Touitou;Xavier Magne;Nicolas Molinari;André Navarro

  • MYH9-related disease: A novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations

    Alessandro Pecci;Catherine Klersy;Paolo Gresele;Kieran J.D. Lee

  • DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene.

    Ceccherini I;Hofstra Rm;Luo Y;Stulp Rp

  • ANKRD26-related thrombocytopenia and myeloid malignancies

    Patrizia Noris;Remi Favier;Remi Favier;Marie Christine Alessi;Amy E. Geddis

  • Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.

    Hamish S. Scott;Maarit Heino;Pärt Peterson;Lauréane Mittaz

  • Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene.

    Chiara Pescucci;Francesca Mari;Ilaria Longo;Paraskevi Vogiatzi

Frequent Co-Authors

Roberto Ravazzolo
Roberto Ravazzolo University of Genoa
Anna Savoia
Anna Savoia University of Trieste
Alessandra Renieri
Alessandra Renieri University of Siena
Giovanni Romeo
Giovanni Romeo University of Bologna
Paolo Tinuper
Paolo Tinuper University of Bologna
Francesca Bisulli
Francesca Bisulli University of Bologna
Isabella Ceccherini
Isabella Ceccherini University of Genoa
Marcella Devoto
Marcella Devoto University of Pennsylvania
Rocco Liguori
Rocco Liguori University of Bologna
Valerio Carelli
Valerio Carelli University of Bologna

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