Get started
Author

Elena Andreucci

Observed names: E Andreucci, E. Andreucci
Observed institutions: University of Siena, Centre National de la Recherche Scientifique, Institut national de recherche en sciences et technologies du numérique, University Medical Center Groningen, The University of Melbourne, Queen Mary University of London, University of Groningen, Regeneron (United States), Université Côte d'Azur, Meyer Children's Hospital, Victorian Clinical Genetics Services, Meyer Children's Hospital, Azienda Ospedaliera Universitaria Senese, Murdoch Children's Research Institute, Fondazione IRCCS Istituto Neurologico Carlo Besta, MAASAI: Modèles et algorithmes pour l'intelligence artificielle, Blizard Institute, University of Florence
ORCID: 0000-0002-4639-8144
Observed ORCID: 0000-0002-4639-8144
OpenAlex ID: A5041693449
Mapping the human genetic architecture of COVID-19
2021 · COVID-19 Host Genetics Initiative, COVID-19 Host Genetics InitiativeLeadership, et al. · Nature · 1,008
Whole-genome sequencing reveals host factors underlying critical COVID-19
2022 · Athanasios Kousathanas, Erola Pairo-Castineira, et al. · Nature · 347
PDF
A first update on mapping the human genetic architecture of COVID-19
2022 · COVID-19 Host Genetics Initiative, COVID-19 Host Genetics Initiative, et al. · Nature · 185
PDF
Hand function in children with hemiplegic cerebral palsy: prospective follow-up and functional outcome in adolescence
2003 · Ermellina Fedrizzi, Emanuela Pagliano, et al. · Developmental Medicine & Child Neurology · 171
Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome
2011 · Margot E. Bowen, Eric D. Boyden, et al. · PLoS Genetics · 146
PDF
The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis
2017 · Viviana Palazzo, Aldesia Provenzano, et al. · Kidney International · 135
PDF
Low bone density and bone metabolism alterations in Duchenne muscular dystrophy: response to calcium and vitamin D treatment
2010 · M. L. Bianchi, L. Morandi, et al. · Osteoporosis International · 88
Cognitive Profiles and Visuoperceptual Abilities in Preterm and Term Spastic Diplegic Children With Periventricular Leukomalacia
2007 · Emanuela Pagliano, Ermellina Fedrizzi, et al. · Journal of Child Neurology · 78
Unilateral frontal lobe epilepsy affects executive functions in children
2005 · D. Riva, G. Avanzini, et al. · Neurological Sciences · 71
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients
2021 · Stefania Mantovani, Sergio Daga, et al. · Genes and Immunity · 65
PDF
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families
2011 · Elena Andreucci, Salim Aftimos, et al. · Orphanet Journal of Rare Diseases · 62
PDF
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort
2021 · Alexandra Scott, Niccolò Di Giosaffatte, et al. · Genetics in Medicine · 56
Cognitive and Behavioural Effects of Migraine in Childhood and Adolescence
2006 · D Riva, F Aggio, et al. · Cephalalgia · 55
SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues
2021 · Matteo D’Antonio, Jennifer P. Nguyen, et al. · Cell Reports · 50
PDF
Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome
2009 · Laura Giunti, Valentina Cetica, et al. · European Journal of Human Genetics · 43
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes
2009 · I. Carboni, E. Andreucci, et al. · Nephrology Dialysis Transplantation · 42
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity
2021 · Chiara Fallerini, Nicola Picchiotti, et al. · Human Genetics · 37
PDF
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications
2020 · Christina Lissewski, Valérie Chune, et al. · European Journal of Human Genetics · 36
PDF
A new mutation in EDA gene in X-linked hypohidrotic ectodermal dysplasia associated with keratoconus.
2012 · M Piccione, G Serra, et al. · PubMed · 36
Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity
2009 · Elena Andreucci, Benedetta Bianchi, et al. · Pediatric Nephrology · 36
The heel-contact gait pattern of habitual toe walkers
2004 · P. Crenna, E. Fedrizzi, et al. · Gait & Posture · 35
CHARGE‐like presentation, craniosynostosis and mild Mowat–Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases
2014 · Tara L. Wenger, Margaret Harr, et al. · American Journal of Medical Genetics Part A · 31
Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes
2014 · R Artuso, A Provenzano, et al. · The Pharmacogenomics Journal · 26
Spectrum ofPTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: Identification of thirteen novel alleles
2004 · Maria Savino, Maria d'Apolito, et al. · Human Mutation · 24
PDF
Evolution of upper limb function in children with congenital hemiplegia
2001 · E. Pagliano, E. Andreucci, et al. · Neurological Sciences · 23
Works count: 57
Citation count: 3,070
H-index: 24
I10-index: 32
Year
Topic
Type