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E. Sangiorgi · SciRah

Researcher profile · Semantic Scholar

E. Sangiorgi

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E. Sangiorgi — researcher profile on SciRah

h-index: 20
Works: 42
Citations: 4,524

Most-cited papers

Bmi1 is expressed in vivo in intestinal stem cells
E. Sangiorgi, M. Capecchi
2008Nature Genetics1,242 citations Open access
Semantic Scholar
Sustained in vitro intestinal epithelial culture within a Wnt-dependent stem cell niche
A. Ootani, Xing-Nan Li, E. Sangiorgi, Q. Ho +7 more
2009Nature Medicine881 citations Open access
Semantic Scholar
The intestinal stem cell markers Bmi1 and Lgr5 identify two functionally distinct populations
Kelley S. Yan, Luis A. Chia, Xing-Nan Li, A. Ootani +9 more
2011Proceedings of the National Academy of Sciences of the United States of America832 citations Open access
Semantic Scholar
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
H. van Bokhoven, B. Hamel, Mike Bamshad, E. Sangiorgi +21 more
2001American Journal of Human Genetics364 citations Open access
Semantic Scholar
Bmi1 represses Ink4a/Arf and Hox genes to regulate stem cells in the rodent incisor
B. Biehs, J. Hu, N. Strauli, E. Sangiorgi +7 more
2013Nature Cell Biology144 citations Open access
Semantic Scholar
Bmi1 lineage tracing identifies a self-renewing pancreatic acinar cell subpopulation capable of maintaining pancreatic organ homeostasis
E. Sangiorgi, M. Capecchi
2009Proceedings of the National Academy of Sciences of the United States of America112 citations Open access
Semantic Scholar
Faculty Opinions recommendation of Down's syndrome suppression of tumour growth and the role of the calcineurin inhibitor DSCR1.
G. Neri, E. Sangiorgi
2009112 citations Open access
Semantic Scholar
Bmi 1 is expressed in vivo in intestinal stem cells
E. Sangiorgi, M. Capecchi
2010105 citations
Semantic Scholar
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.
X. de Mollerat, F. Gurrieri, Chad T. Morgan, E. Sangiorgi +19 more
2003Human Molecular Genetics103 citations Open access
Semantic Scholar
A new susceptibility locus for migraine with aura in the 15q11-q13 genomic region containing three GABA-A receptor genes.
L. Russo, P. Mariotti, E. Sangiorgi, T. Giordano +6 more
2005American Journal of Human Genetics86 citations Open access
Semantic Scholar
Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13
F. Gurrieri, A. Battaglia, L. Torrisi, R. Tancredi +3 more
1999Neurology71 citations
Semantic Scholar
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome
C. Kozycki, Shilpa Kodati, Laryssa A. Huryn, Hongying Wang +66 more
2022Annals of the Rheumatic Diseases62 citations Open access
Semantic Scholar
Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21
D. Tackels-Horne, A. Toburen, E. Sangiorgi, F. Gurrieri +6 more
2001Clinical Genetics56 citations
Semantic Scholar
A split hand-split foot (SHFM3) gene is located at 10q24-->25.
P. Tsipouras, Fiorella Gurrieri, P. Prinos, Darci Tackels +10 more
1996American journal of medical genetics54 citations
Semantic Scholar
DNA Methylation in the Diagnosis of Monogenic Diseases
Flavia Cerrato, A. Sparago, F. Ariani, Fulvia Brugnoletti +19 more
2020Genes41 citations Open access
Semantic Scholar
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome
E. Sangiorgi, A. Azzarà, Clelia Molinario, R. Pietrobono +6 more
2019European Journal of Human Genetics35 citations Open access
Semantic Scholar
The Clinical Chameleon of Autoinflammatory Diseases in Children
E. Sangiorgi, D. Rigante
2022Cells29 citations Open access
Semantic Scholar
Limb anomalies: Developmental and evolutionary aspects.
F. Gurrieri, K. Kjaer, E. Sangiorgi, G. Neri
2002American journal of medical genetics29 citations
Semantic Scholar
In vivo evaluation of PhiC31 recombinase activity using a self-excision cassette
E. Sangiorgi, Shuhua Zhang, M. Capecchi
2008Nucleic Acids Research27 citations Open access
Semantic Scholar
Two brothers with 22q13 deletion syndrome and features suggestive of the Clark–Baraitser syndrome
E. Tabolacci, M. Zollino, R. Lecce, E. Sangiorgi +4 more
2005Clinical Dysmorphology26 citations
Semantic Scholar
Phenotypic effects of chronic and acute use of methiopropamine in a mouse model
F. Foti, M. Marti, A. Ossato, S. Bilel +5 more
2018Zeitschrift für Rechtsmedizin19 citations Open access
Semantic Scholar
A SPRY2 mutation leading to MAPK/ERK pathway inhibition is associated with an autosomal dominant form of IgA nephropathy
A. Milillo, Francesca La Carpia, S. Costanzi, Vanessa D'Urbano +9 more
2015European Journal of Human Genetics19 citations Open access
Semantic Scholar
Genomic organization and embryonic expression of Suppressor of Fused, a candidate gene for the split‐hand/split‐foot malformation type 3
Thomas Grimm, S. Teglund, D. Tackels, E. Sangiorgi +3 more
2001FEBS Letters17 citations Open access
Semantic Scholar
Rearrangements of chromosome 15 in epilepsy.
L. Torrisi, E. Sangiorgi, Lisa Russo, F. Gurrieri
2001American journal of medical genetics15 citations
Semantic Scholar
Identification of new candidate genes for spina bifida through exome sequencing
A. Azzarà, C. Rendeli, A. Crivello, Fulvia Brugnoletti +4 more
2021Child's Nervous System14 citations
Semantic Scholar
Defective activation of the MAPK/ERK pathway, leading to PARP1 and DNMT1 dysregulation, is a common defect in IgA nephropathy and Henoch-Schönlein purpura
A. Milillo, Clelia Molinario, S. Costanzi, G. Vischini +6 more
2018JN. Journal of Nephrology (Milano. 1992)13 citations
Semantic Scholar
Results of a Gene Panel Approach in a Cohort of Patients with Incomplete Distal Renal Tubular Acidosis and Nephrolithiasis
V. D'Ambrosio, A. Azzarà, E. Sangiorgi, F. Gurrieri +3 more
2021Kidney & Blood Pressure Research9 citations Open access
Semantic Scholar
Morphology and immunophenotyping of a monolateral ovotestis in a 46,XderY/45,X mosaic individual with ambiguous genitalia.
G. Zannoni, V. Vellone, E. Cordisco, E. Sangiorgi +4 more
2010International Journal of Gynecological Pathology4 citations
Semantic Scholar
In Silico Design of E3 Ubiquitin-Protein Ligase NEDD4-1 Inhibitors: An Alternative Approach for Targeting the MAPK Pathway in Cancer Therapy
Davide Pirolli, B. Righino, Beatrice Tropea, F. Gurrieri +2 more
2019Proceedings2 citations Open access
Semantic Scholar
Erratum to: Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects
Francesca La Carpia, C. Rendeli, Clelia Molinario, A. Milillo +8 more
2016Child's Nervous System2 citations Open access
Semantic Scholar
Identification by Exome Sequencing of Predisposing Variants in Familial Cases of Autoinflammatory Recurrent Fevers
E. Sangiorgi, A. Azzarà, Roberto Rumore, I. Cassano +5 more
2023Genes1 citations Open access
Semantic Scholar
Clinical and molecular features of familial chronic lymphocytic leukemia: a pilot monocentric study
G. Benintende, I. Innocenti, A. Fresa, F. Autore +10 more
2022Haematologica1 citations Open access
Semantic Scholar
P0058THE ROLE OF GENETICS IN INCOMPLETE DISTAL RENAL TUBULAR ACIDOSIS IN NEPHROLITHIASIS
V. D'Ambrosio, E. Sangiorgi, B. Hess, G. Gambaro +1 more
2020Nephrology, Dialysis and Transplantation1 citations
Semantic Scholar
Bmi1 in Self-Renewal and Homeostasis of Pancreas
E. Sangiorgi, M. Capecchi
20111 citations
Semantic Scholar
A split hand-split foot (SHFM3) gene is located at 10q24{yields}25
F. Gurrieri, Maurizio Genuardi, L. Nanni, E. Sangiorgi +1 more
19961 citations
Semantic Scholar
RADX Gene Variant May Predispose to Familial Asperger Syndrome
A. Azzarà, Roberto Rumore, Fulvia Brugnoletti, E. Tabolacci +3 more
2023Genes0 citations Open access
Semantic Scholar
Severe chronic primary neutropenia: findings from a patient who underwent exstensive evaluation including adenosine deaminase 2 gene variant assessment
K. Paciaroni, E. Sangiorgi, Federica Pulvirenti, Nicoletta Villiva' +8 more
2023Leukemia and Lymphoma0 citations
Semantic Scholar
Genetic Imprinting in the Prader–Willi and Angelman Syndromes
F. Gurrieri, E. Sangiorgi
20110 citations
Semantic Scholar
Faculty Opinions recommendation of Mutations causing syndromic autism define an axis of synaptic pathophysiology.
G. Neri, E. Sangiorgi
20110 citations
Semantic Scholar
Faculty Opinions recommendation of A rapid and scalable system for studying gene function in mice using conditional RNA interference.
G. Neri, E. Sangiorgi
20110 citations Open access
Semantic Scholar
Faculty Opinions recommendation of Merkel cells are essential for light-touch responses.
G. Neri, E. Sangiorgi
20090 citations Open access
Semantic Scholar
NPGRJ_NG_165 1..6
E. Sangiorgi, M. Capecchi
20080 citations
Semantic Scholar

Frequent co-authors

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F. Gurrieri×21
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A. Azzarà×5
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E. Verrecchia×3

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