Elisa Fazzi - Concepedia

Author

Elisa Fazzi

Also Known As

Angela Tincani, E FAZZI, E Fazzi, E. Fazzi, ELISA FAZZI, Elisa Fazzi, Elisa, Fazzi, Eliza Fazzi, Fazzi Elisa, Fazzi, Elisa

266

Publications

11.6K

Citations

H-Index

227

Concepts

All Affiliations

University of Pavia Istituti di Ricovero e Cura a Carattere Scientifico University of Brescia Fondazione Istituto Neurologico Nazionale Casimiro Mondino Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia

About

Elisa Fazzi is an author at University of Pavia specializing in medicine, pediatrics, and neurology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	31	57	6.2K
2	Education	10	10	430
3	Health Sciences	9	9	322
4	Engineering	2	2	79
5	Arts	1	1	58

Elisa Fazzi

117

Publications

10.9K

Citations

H-Index

Page 1

	Year	Citations
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature Gillian Rice, Paul R. Kasher, Gabriella Forte, Nature Genetics Autoimmune DiseaseGenetic DisorderGeneticsPathogenesisImmunology	2012	916
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response Gillian Rice, Jacquelyn Bond, Aruna Asipu, Nature Genetics AllergyAutoimmune DiseasePathogenesisImmunologyInnate Immune Response	2009	680
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection Yanick J. Crow, Andrea Leitch, Bruce E. Hayward, Nature Genetics Ribonuclease H2Viral EvolutionGenetic DisorderNeurovirologyGenetics	2006	666
Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i> Yanick J. Crow, Diana Chase, Johanna L. Schmidt, American Journal of Medical Genetics Part A	2015	589
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling Gillian Rice, Yoandris del Toro Duany, Emma M. Jenkinson, Nature Genetics	2014	582
Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome Gillian Rice, Teresa Patrick, Rekha Parmar, The American Journal of Human Genetics CardiomyopathyHeart FailureCardiorenal SyndromesCardiovascular DiseaseMolecular Phenotype	2007	442
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study Gillian Rice, Gabriella Forte, Marcin Szynkiewicz, The Lancet Neurology Genetic DisorderAicardi-goutières SyndromeGeneticsMedicineImmunology	2013	425
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies Stephanie Bielas, Jennifer L. Silhavy, Francesco Brancati, Nature Genetics Signal TransductionSignaling PathwayCell SignalingMedicinePhosphatidyl Inositol	2009	408
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome Enza Maria Valente, Jennifer L. Silhavy, Francesco Brancati, Nature Genetics Developmental BiologyMendelian DisorderJoubert SyndromeGenetic DisorderGenetics	2006	400
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients Manuela De Gregori, Roberto Ciccone, Pamela Magini, Journal of Medical Genetics	2007	354

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