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E

Edoardo Giacopuzzi

Human Technopole

20H指数
121论文数
928被引数
收录论文 27
发表时间
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Hundreds of cardiac MRI traits derived using 3D diffusion autoencoders share a common genetic architecture使用3D扩散自编码器衍生的数百种心脏MRI特征共享共同的遗传结构
errNature Communications
IF15.7
err2026-06-29
err0
errOAAI
errSara Ometto; Soumick Chatterjee; Andrea Mario Vergani; Arianna Landini; Sodbo Sharapov; Edoardo Giacopuzzi; Alessia Visconti; Emanuele Bianchi; Federica Santonastaso; Emanuel M. Soda; Francesco Cisternino; Carlo Andrea Pivato; Francesca Ieva; Emanuele Di Angelantonio; Nicola Pirastu; Craig A. Glastonbury
err分享
err收藏
Single Cell Multimodal Framework Identifies CD84 As a Leukaemic Stem Cell Target in Paediatric AML单细胞多模态框架将CD84鉴定为儿童AML中的白血病干细胞靶点
errBLOOD
IF23.1
err2024-11-05
err0
PREAI
errEspuelas, Macarena Oporto; Kanannejad, Sina; Michelozzi, Ilaria Marina; Castaneda, Eduardo Gomez; Xenakis, Theodoros; Kirtsios, Efstratios; Macpherson, Hannah; Bartram, Jack; Thomas, Rebecca; Giacopuzzi, Edoardo; Chatterjee, Soumick; Martignano, Filippo; Castellano, Sergi; Amrolia, Persis Jal; Giustacchini, Alice
err分享
err收藏
FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6
errBRAIN COMMUNICATIONS
IF4.5
err2024-09-25
err0
errOAAI
errWatts, Laura M.; Bunyan, David J.; Giacopuzzi, Edoardo; Walker, Susan; Gazdagh, Gabriella; Thomas, N. Simon; Straub, Volker; Childs, Anne-Marie; Forsyth, Joan; Vogt, Julie; Khan, Shagufta; Willis, Tracey A.; Taylor, Jenny C.; Pagnamenta, Alistair T.
err分享
err收藏
Self-supervised learning for characterising histomorphological diversity and spatial RNA expression prediction across 23 human tissue types
errNATURE COMMUNICATIONS
IF15.7
err2024-07-13
err0
errOAAI
errCisternino, Francesco; Ometto, Sara; Chatterjee, Soumick; Giacopuzzi, Edoardo; Levine, Adam P.; Glastonbury, Craig A.
err分享
err收藏
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-01-01
err3
errOAAI
errSalpietro, Vincenzo; Maroofian, Reza; Zaki, Maha S.; Wangen, Jamie; Ciolfi, Andrea; Barresi, Sabina; Efthymiou, Stephanie; Lamaze, Angelique; Aughey, Gabriel N.; Al Mutairi, Fuad; Rad, Aboulfazl; Rocca, Clarissa; Cali, Elisa; Accogli, Andrea; Zara, Federico; Striano, Pasquale; Mojarrad, Majid; Tariq, Huma; Giacopuzzi, Edoardo; Taylor, Jenny C.; Oprea, Gabriela; Skrahina, Volha; Rehman, Khalil Ur; Abd Elmaksoud, Marwa; Bassiony, Mahmoud; El Said, Huda G.; Abdel-Hamid, Mohamed S.; Al Shalan, Maha; Seo, Gohun; Kim, Sohyun; Lee, Hane; Khang, Rin; Issa, Mahmoud Y.; Elbendary, Hasnaa M.; Rafat, Karima; Marinakis, Nikolaos M.; Traeger-Synodinos, Joanne; Ververi, Athina; Sourmpi, Mara; Eslahi, Atieh; Zand, Farhad Khadivi; Toosi, Mehran Beiraghi; Babaei, Meisam; Jackson, Adam; Bertoli-Avella, Aida; Pagnamenta, Alistair T.; Niceta, Marcello; Battini, Roberta; Corsello, Antonio; Leoni, Chiara; Chiarelli, Francesco; Dallapiccola, Bruno; Faqeih, Eissa Ali; Tallur, Krishnaraya K.; Alfadhel, Majid; Alobeid, Eman; Maddirevula, Sateesh; Mankad, Kshitij; Banka, Siddharth; Ghayoor-Karimiani, Ehsan; Tartaglia, Marco; Chung, Wendy K.; Green, Rachel; Alkuraya, Fowzan S.; Jepson, James E. C.; Houlden, Henry
err分享
err收藏
CHARR efficiently estimates contamination from DNA sequencing data
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2023-12-01
err3
errOAAI
errLu, Wenhan; Gauthier, Laura D.; Poterba, Timothy; Giacopuzzi, Edoardo; Goodrich, Julia K.; Stevens, Christine R.; King, Daniel; Daly, Mark J.; Neale, Benjamin M.; Karczewski, Konrad J.
err分享
err收藏
Genome-wide association studies on Northern Italy isolated populations provide further support concerning genetic susceptibility for major depressive disorder对意大利北部孤立人群的全基因组关联研究为重度抑郁症的遗传易感性提供了进一步的支持
errWORLD JOURNAL OF BIOLOGICAL PSYCHIATRY
IF3.8
err2022-06-20
err3
errOAAI
errDattilo, Vincenzo; Ulivi, Sheila; Minelli, Alessandra; La Bianca, Martina; Giacopuzzi, Edoardo; Bortolomasi, Marco; Bignotti, Stefano; Gennarelli, Massimo; Gasparini, Paolo; Concas, Maria Pina
err分享
err收藏
The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing
errJOURNAL OF THE ENDOCRINE SOCIETY
IF3.1
err2022-05-15
err6
errOAAI
errStevenson, Mark; Pagnamenta, Alistair T.; Mack, Heather G.; Savige, Judith; Giacopuzzi, Edoardo; Lines, Kate E.; Taylor, Jenny C.; Thakker, Rajesh, V
err分享
err收藏
GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data
errNUCLEIC ACIDS RESEARCH
IF13.1
err2022-03-02
err14
errOAAI
errGiacopuzzi, Edoardo; Popitsch, Niko; Taylor, Jenny C.
err分享
err收藏
Characterization of three sialidases from Danio rerio
errBIOCHIMIE
IF3
err2021-08-01
err2
errOAAI
errForcella, Matilde; Manzoni, Marta; Benaglia, Giuliana; Bonanomi, Marcella; Giacopuzzi, Edoardo; Papini, Nadia; Bresciani, Roberto; Fusi, Paola; Borsani, Giuseppe; Monti, Eugenio
err分享
err收藏
Estrogen-Like Effect of Mitotane Explained by Its Agonist Activity on Estrogen Receptor-α
errBIOMEDICINES
IF3.9
err2021-06-16
err9
errOAAI
errRossini, Elisa; Giacopuzzi, Edoardo; Gangemi, Fabrizio; Tamburello, Mariangela; Cosentini, Deborah; Abate, Andrea; Lagana, Marta; Berruti, Alfredo; Grisanti, Salvatore; Sigala, Sandra
err分享
err收藏
Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2021-02-05
err2
errOAAI
errRagoussis, Vassilis; Pagnamenta, Alistair T.; Haines, Rebecca L.; Giacopuzzi, Edoardo; McClatchey, Martin A.; Sampson, Julian R.; Suri, Mohnish; Gardham, Alice; Cobben, Jan-Maarten; Osio, Deborah; Fry, Andrew E.; Taylor, Jenny C.
err分享
err收藏
Alterations observed in the interferon α and β signaling pathway in MDD patients are marginally influenced by cis-acting alleles
errSCIENTIFIC REPORTS
IF3.9
err2021-01-12
err2
errOAAI
errMagri, Chiara; Giacopuzzi, Edoardo; Sacco, Chiara; Bocchio-Chiavetto, Luisella; Minelli, Alessandra; Gennarelli, Massimo
err分享
err收藏
A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme (vol 8, 15470, 2018)
errSCIENTIFIC REPORTS
IF3.9
err2020-03-10
err0
errOAAI
errMagri, Chiara; Giacopuzzi, Edoardo; La Via, Luca; Bonini, Daniela; Ravasio, Viola; Elhussiny, Mohammed E. A.; Orizio, Flavia; Gangemi, Fabrizio; Valsecchi, Paolo; Bresciani, Roberto; Barbon, Alessandro; Vita, Antonio; Gennarelli, Massimo
err分享
err收藏
THE EFFECT OF CHILDHOOD TRAUMA ON BLOOD EXPRESSION OF MED22 IN PATIENTS WITH MAJOR DEPRESSIVE DISORDER IS MEDIATED BY CIS-ACTING SNPS
errEUROPEAN NEUROPSYCHOPHARMACOLOGY
IF6.7
err2019-01-01
err0
PREAI
errGiacopuzzi, Edoardo; Minelli, Alessandra; Sacco, Chiara; Gennarelli, Massimo; Magri, Chiara
err分享
err收藏
ANALYSIS OF GENETIC AND ENVIRONMENTAL CONTRIBUTION TO ALTERED GENE EXPRESSION PROFILES OBSERVED IN MAJOR DEPRESSIVE DISORDER
errEUROPEAN NEUROPSYCHOPHARMACOLOGY
IF6.7
err2019-01-01
err0
PREAI
errGiacopuzzi, Edoardo; Sacco, Chiara; Minelli, Alessandra; Gennarelli, Massimo; Magri, Chiara
err分享
err收藏
Genome-wide analysis of consistently RNA edited sites in human blood reveals interactions with mRNA processing genes and suggests correlations with cell types and biological variables
errBMC GENOMICS
IF3.7
err2018-12-27
err9
errOAAI
errGiacopuzzi, Edoardo; Gennarelli, Massimo; Sacco, Chiara; Filippini, Alice; Mingardi, Jessica; Magri, Chiara; Barbon, Alessandro
err分享
err收藏
A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme
errSCIENTIFIC REPORTS
IF3.9
err2018-10-19
err22
errOAAI
errMagri, Chiara; Giacopuzzi, Edoardo; La Via, Luca; Bonini, Daniela; Ravasio, Viola; Elhussiny, Mohammed E. A.; Orizio, Flavia; Gangemi, Fabrizio; Valsecchi, Paolo; Bresciani, Roberto; Barbon, Alessandro; Vita, Antonio; Gennarelli, Massimo
err分享
err收藏
The effect of childhood trauma on blood transcriptome expression in major depressive disorder
errJOURNAL OF PSYCHIATRIC RESEARCH
IF3.2
err2018-09-01
err18
errOAAI
errMinelli, Alessandra; Magri, Chiara; Giacopuzzi, Edoardo; Gennarelli, Massimo
err分享
err收藏
Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency
errHUMAN MUTATION
IF3.7
err2018-06-28
err38
errOAAI
errGiacopuzzi, Edoardo; Laffranchi, Mattia; Berardelli, Romina; Ravasio, Viola; Ferrarotti, Ilaria; Gooptu, Bibek; Borsani, Giuseppe; Fra, Annamaria
err分享
err收藏

研究方向

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合作学者
合作期刊
M
Mark J. Daly
H 指数: 224 · 论文数: 1.2K
B
Benjamin M. Neale
H 指数: 160 · 论文数: 799
H
Henry Houlden
H 指数: 120 · 论文数: 1.5K
P
Paolo Gasparini
H 指数: 107 · 论文数: 772
V
Volker Straub
H 指数: 101 · 论文数: 962
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