H-Index & Metrics Best Publications

H-Index & Metrics

Discipline name H-index Citations Publications World Ranking National Ranking
Genetics and Molecular Biology D-index 41 Citations 7,612 152 World Ranking 4937 National Ranking 90

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Mutation
  • Genetics

His scientific interests lie mostly in Genetics, Mutation, Immunology, Pathology and Internal medicine. His study in RET proto-oncogene, Allele, Exon, Exome sequencing and Genetic heterogeneity falls under the purview of Genetics. Marco Seri has researched Mutation in several fields, including Phenotype, May–Hegglin anomaly and Mutant.

His work deals with themes such as Sensorineural hearing loss, Cancer, Nephrotic syndrome and Fechtner syndrome, which intersect with Pathology. His research investigates the link between Internal medicine and topics such as Gastroenterology that cross with problems in Cataracts. His Missense mutation research integrates issues from Sebastian Syndrome and Frameshift mutation.

His most cited work include:

  • Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene (656 citations)
  • Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease (626 citations)
  • Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. (342 citations)

What are the main themes of his work throughout his whole career to date?

Marco Seri spends much of his time researching Genetics, Gene, Mutation, Phenotype and Internal medicine. Genetic linkage, Locus, Allele, Exon and Genetic heterogeneity are subfields of Genetics in which his conducts study. His work carried out in the field of Locus brings together such families of science as Epilepsy, Haplotype and Candidate gene.

His Gene study frequently links to other fields, such as Molecular biology. His study in Mutation is interdisciplinary in nature, drawing from both Genotype and Pathology. In Internal medicine, Marco Seri works on issues like Immunology, which are connected to Virology.

He most often published in these fields:

  • Genetics (49.45%)
  • Gene (25.45%)
  • Mutation (17.45%)

What were the highlights of his more recent work (between 2017-2021)?

  • Exome sequencing (10.55%)
  • Genetics (49.45%)
  • Gene (25.45%)

In recent papers he was focusing on the following fields of study:

Marco Seri mainly investigates Exome sequencing, Genetics, Gene, Mutation and Genetic heterogeneity. His Genetics and Phenotype, Allele, Missense mutation, Compound heterozygosity and Haploinsufficiency investigations all form part of his Genetics research activities. His research integrates issues of Internalization and Disease in his study of Missense mutation.

Marco Seri studied Gene and Internal medicine that intersect with Oncology, Gastroenterology and Single-nucleotide polymorphism. His study of Frameshift mutation is a part of Mutation. His work in Genetic heterogeneity addresses subjects such as Hereditary spastic paraplegia, which are connected to disciplines such as Glutamate receptor.

Between 2017 and 2021, his most popular works were:

  • ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population. (74 citations)
  • Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes (62 citations)
  • Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study (32 citations)

In his most recent research, the most cited papers focused on:

  • Gene
  • Mutation
  • Genetics

Marco Seri mostly deals with Exome sequencing, Genetics, Mutation, Missense mutation and Allele. His Exome sequencing study integrates concerns from other disciplines, such as Thyroid, Thyroid cancer, Exon skipping, Mutant and Zebrafish. His Proband study, which is part of a larger body of work in Mutation, is frequently linked to Convulxin, bridging the gap between disciplines.

His Missense mutation study is concerned with the field of Gene as a whole. His studies deal with areas such as Phenotype, Genetic heterogeneity and Noonan syndrome as well as Allele. The Disease study combines topics in areas such as OMIM : Online Mendelian Inheritance in Man, Immunology, Cohort and Autosomal dominant macrothrombocytopenia.

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

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.
Nature (1994)

996 Citations

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.
Nature Genetics (1998)

809 Citations

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.
Nature Genetics (2000)

362 Citations

RET mutations in exons 13 and 14 of FMTC patients.

A. Bolino;I. Schuffenecker;Yin Luo;M. Seri.
Oncogene (1995)

290 Citations

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.
Medicine (2003)

278 Citations

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.
Blood (2000)

276 Citations

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.
Schizophrenia Bulletin (2014)

250 Citations

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.
Blood (2011)

241 Citations

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.
Journal of The American Society of Nephrology (2001)

238 Citations

Loss of function effect of RET mutations causing Hirschsprung disease

Barbara Pasini;Maria Grazia Borrello;Angela Greco;Italia Bongarzone.
Nature Genetics (1995)

223 Citations

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