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R

Rita Selvatici

university hospital s. anna ferrara
H指数:25
被引数:2,294

个人简介

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教育背景

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工作经历

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荣誉奖项

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Clinical, Transcriptional and Haplotype Characterization of Recurrent MYBPC3 Splice-Site Variants c.1458-1G>A and c.3331-1G>A Associated with Hypertrophic Cardiomyopathy in Northern Italy

临床、转录组和单倍型特征分析：与意大利北部肥厚型心肌病相关的MYBPC3剪接位点变异c.1458-1G>A和c.3331-1G>A的复发特征

Genes
IF2.8
2026-09-200
OA
Carlotta Pia Cristalli; Maria Alessandra Schiavo; Miryam Rosa Stella Foti; Sara Calabrese; Federica Isidori; Alice Margutti; Pierluigi Laricchiuta; Giulia Governatori; Francesco Lai; Vera Uliana; Federico Barocelli; Elia De Maria; Alessandro Fucili; Biagio Sassone; Giulia Parmeggiani; Enrica Perugini; Camilla Lucca; Francesca Cappuccini; Laura Pezzoli; Maria Iascone; Maria Piane; Giovanni Vitale; Claudio Graziano; Rita Selvatici; Alessandra Ferlini; Maddalena Graziosi; Elena Biagini; Daniela Turchetti; Francesca Gualandi; Cesare Rossi
Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report

COL6A1、COL6A2和COL6A3致病性变异在呈现VI型胶原蛋白相关肌病的大型意大利队列中的景观分析：一项全国性报告

Biomolecules 2025, Vol. 15, Page 1426
IF4.8
2025-10-080
OAAI
Fernanda Fortunato; Laura Fiocco; Alice Margutti; Marcella Neri; Adele D’Amico; Enrico Bertini; Enzo Ricci; Eugenio Maria Mercuri; Marika Pane; Roberto Massa; Giulia Greco; Angela Lucia Berardinelli; Cristina Cereda; Antonella Pini; Luciano Merlini; Carlo Fusco; Carmelo Rodolico; Sonia Messina; Chiara Fiorillo; Claudio Bruno; Marina Pedemonte; Monica Traverso; Isabella Moroni; Lorenzo Maggi; Sara Gibertini; Elena Pegoraro; Esther Picillo; Luisa Politano; Marianna Scutifero; Fabiana Vercellino; Francesca Massaro; Massimiliano Filosto; Paolo Gasparini; Federica Ricci; Tiziana Enrica Mongini; Rita Selvatici; Alessandra Ferlini; Francesca Gualandi
TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project

TREAT：Screen4Care项目框架下的基因组新生儿筛查基因的系统性及包容性选择流程

ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2025-05-150
OA
Saier, Christina; Sansen, Stefaan; Berghout, Joanne; Freyler, Kathrin; Einhorn, Moshe; Einhorn, Yaron; Matalonga, Leslie; Beltran, Sergi; Novelli, Antonio; Selvatici, Rita; Fortunato, Fernanda; Montanari, Silvia; Martinez-Fresno, Maria; Gumus, Gulcin; Agolini, Emanuele; Garnier, Nicolas; Ferlini, Alessandra; Bertini, Enrico; Kirschner, Janbernd
RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing
HUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
2022-01-0110
OAAI
Falzarano, Maria S.; Grilli, Andrea; Zia, Silvia; Fang, Mingyan; Rossi, Rachele; Gualandi, Francesca; Rimessi, Paola; El Dani, Reem; Fabris, Marina; Lu, Zhiyuan; Li, Wenyan; Mongini, Tiziana; Ricci, Federica; Pegoraro, Elena; Bello, Luca; Barp, Andrea; Sansone, Valeria A.; Hegde, Madhuri; Roda, Barbara; Reschiglian, Pierluigi; Bicciato, Silvio; Selvatici, Rita; Ferlini, Alessandra
Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries
NEUROLOGY-GENETICS
IF3.7
2021-02-0111
OAAI
Selvatici, Rita; Rossi, Rachele; Fortunato, Fernanda; Trabanelli, Cecilia; Sifi, Yamina; Margutti, Alice; Neri, Marcella; Gualandi, Francesca; Szabo, Lena; Fekete, Balint; Angelova, Lyudmilla; Litvinenko, Ivan; Ivanov, Ivan; Vildan, Yurtsever; Iuhas, Oana Alexandra; Vintan, Mihaela; Burloiu, Carmen; Lacramioara, Butnariu; Visa, Gabriela; Epure, Diana; Rusu, Cristina; Vasile, Daniela; Sandu, Magdalena; Vlodavets, Dmitry; Mager, Monica; Kyriakides, Theodore; Delin, Sanja; Lehman, Ivan; Fures, Jadranka Sekelj; Bojinova, Veneta; Militaru, Mariela; Guergueltcheva, Velina; Burnyte, Birute; Molnar, Maria Judith; Butoianu, Niculina; Bensemmane, Selma Dounia; Makri-Mokrane, Samira; Herczegfalvi, Agnes; Panzaru, Monica; Emandi, Adela Chirita; Lusakowska, Anna; Potulska-Chromik, Anna; Kostera-Pruszczyk, Anna; Shatillo, Andriy; Khelladi, Djawed Bouchenak; Dendane, Oussama; Fang, Mingyan; Lu, Zhiyuan; Ferlini, Alessandra
POPDC2 a novel susceptibility gene for conduction disorders
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
IF4.7
2020-08-0116
OAAI
Rinne, Susanne; Ortiz-Bonnin, Beatriz; Stallmeyer, Birgit; Kiper, Aytug K.; Fortmueller, Lisa; Schindler, Roland F. R.; Herbort-Brand, Ursula; Kabir, Nashitha S.; Dittmann, Sven; Friedrich, Corinna; Zumhagen, Sven; Gualandi, Francesca; Selvatici, Rita; Rapezzi, Claudio; Arbustini, Eloisa; Ferlini, Alessandra; Fabritz, Larissa; Schulze-Bahr, Eric; Brand, Thomas; Decher, Niels
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain
JOURNAL OF MEDICAL GENETICS
IF3.7
2019-06-2626
OAAI
Lemmers, Richard J. L. F.; van der Stoep, Nienke; van der Vliet, Patrick J.; Moore, Steven A.; Granado, David San Leon; Johnson, Katherine; Topf, Ana; Straub, Volker; Evangelista, Teresinha; Mozaffar, Tahseen; Kimonis, Virginia; Shaw, Natalie D.; Selvatici, Rita; Ferlini, Alessandra; Voermans, Nicol; van Engelen, Baziel; Sacconi, Sabrina; Tawil, Rabi; Lamers, Meindert; van der Maarel, Silvere M.

研究方向

暂未获取到该数据
A
Alessandra Ferlini
H 指数:65论文数:501被引数:1.4万
F
Francesca Gualandi
H 指数:42论文数:249被引数:5,802
S
Sofia Falzarano
H 指数:12论文数:40被引数:566
A
Anna Siniscalchi
H 指数:16论文数:56被引数:800
S
Susanna Spisani
H 指数:26论文数:232被引数:2,563
F
Fernanda Martini
H 指数:50论文数:235被引数:7,135
J
John Charles Rotondo
H 指数:33论文数:93被引数:3,793
S
Silvia Marino
H 指数:37论文数:210被引数:8,738
M
Mauro Tognon
H 指数:61论文数:339被引数:1.0万
M
Marcella Neri
H 指数:27论文数:113被引数:2,238