Francesca Simonelli (Sandro Banfi)

Scopus Author ID ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 19

Top Topics

Dna Methylation

Autism Spectrum Disorder

Top Venues

International journal of molecular sciences

EMBO molecular medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Zelia Corradi, Claire-Marie Dhaenens, Olivier Grunewald, Ipek Selen Kocabaş, Isabelle Meunier, Francesca Simonelli, Marianthi Karali, Frans P M Cremers, Rebekkah J Hitti-Malin
Novel and Recurrent Copy Number Variants in ABCA4 -Associated Retinopathy. International journal of molecular sciences 25 (11) (2024)
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Zelia Corradi, Claire-Marie Dhaenens, Olivier Grunewald, Ipek Selen Kocabaş, Isabelle Meunier, Francesca Simonelli, Marianthi Karali, Frans P M Cremers, Rebekkah J Hitti-Malin
Novel and Recurrent Copy Number Variants in ABCA4 -Associated Retinopathy. International journal of molecular sciences 25 (11) (2024)
Zelia Corradi, Claire-Marie Dhaenens, Olivier Grunewald, Ipek Selen Kocabaş, Isabelle Meunier, Francesca Simonelli, Marianthi Karali, Frans P M Cremers, Rebekkah J Hitti-Malin
Novel and Recurrent Copy Number Variants in ABCA4 -Associated Retinopathy. International journal of molecular sciences 25 (11) (2024)
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Sabrina Carrella, Martina Di Guida, Simona Brillante, Davide Piccolo, Ludovica Ciampi, Irene Guadagnino, Jorge García-Piqueras, Mariateresa Pizzo, Elena Marrocco, Marta Molinari, Georgios Petrogiannakis, Sara Barbato, Yulia Ezhova, Alberto Auricchio, Brunella Franco, Elvira De Leonibus, Enrico Maria Surace, Alessia Indrieri, Francesca Simonelli
miR-181a/b downregulation: a mutation-independent therapeutic approach for inherited retinal diseases. EMBO molecular medicine 14 (11) (2022)
Manar Aoun, Ilaria Passerini, Pietro Chiurazzi, Marianthi Karali, Irene De Rienzo, Giovanna Sartor, Vittoria Murro, Natalia Filimonova, Marco Seri, Francesca Simonelli
Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy. International journal of molecular sciences 22 (13) (2021)
Raffaella Brunetti-Pierri, Marianthi Karali, Francesco Testa, Gerarda Cappuccio, Maria Elena Onore, Francesca Romano, Giuseppe De Rosa, Enrico Tedeschi, Nicola Brunetti-Pierri, Francesca Simonelli, Francesca Simonelli
Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants. Diagnostics (Basel, Switzerland) 11 (7) (2021)
Francesco Musacchia, Marianthi Karali, Annalaura Torella, Steven Laurie, Valeria Policastro, Mariateresa Pizzo, Sergi Beltran, Giorgio Casari, Vincenzo Nigro, Francesca Simonelli
VarGenius-HZD Allows Accurate Detection of Rare Homozygous or Hemizygous Deletions in Targeted Sequencing Leveraging Breadth of Coverage. Genes 12 (12) (2021)
Raffaella Brunetti-Pierri, Marianthi Karali, Paolo Melillo, Valentina Di Iorio, Antonella De Benedictis, Gennarfrancesco Iaccarino, Francesco Testa, Francesca Simonelli, Francesca Simonelli
Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study. International journal of molecular sciences 22 (4) (2021)
Alessia Indrieri, Sabrina Carrella, Alessia Romano, Alessandra Spaziano, Elena Marrocco, Erika Fernández-Vizarra, Sara Barbato, Mariateresa Pizzo, Yulia Ezhova, Francesca M Golia, Ludovica Ciampi, Roberta Tammaro, Jorge Henao-Mejia, Adam Williams, Richard A Flavell, Elvira De Leonibus, Massimo Zeviani, Enrico M Surace, Francesca Simonelli, Brunella Franco
miR-181a/b downregulation exerts a protective action on mitochondrial disease models. EMBO molecular medicine 11 (5) (2020)
Federica Naso, Daniela Intartaglia, Danila Falanga, Chiara Soldati, Elena Polishchuk, Giuliana Giamundo, Paola Tiberi, Elena Marrocco, Paolo Scudieri, Chiara Di Malta, Ivana Trapani, Edoardo Nusco, Francesco Giuseppe Salierno, Enrico Maria Surace, Luis Jv Galietta, Francesca Simonelli, Alberto Auricchio, Andrea Balabio, Diego Luis Medina, Ivan Conte
Light-responsive microRNA miR-211 targets Ezrin to modulate lysosomal biogenesis and retinal cell clearance. The EMBO journal 39 (8) (2020)
Gerarda Cappuccio, Sergio Attanasio, Marianna Alagia, Margherita Mutarelli, Roberta Borzone, Marianthi Karali, Rita Genesio, Angela Mormile, Lucio Nitsch, Floriana Imperati, Annalisa Esposito, Francesca Simonelli, Ennio Del Giudice, Nicola Brunetti-Pierri
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder. European journal of human genetics : EJHG 27 (9) (2019)
Marianthi Karali, Francesca Simonelli
Non-coding RNAs in retinal development and function. Human genetics 138 (8-9) (2018)
Valentina Di Iorio, Marianthi Karali, Raffaella Brunetti-Pierri, Mariaelena Filippelli, Giuseppina Di Fruscio, Mariateresa Pizzo, Margherita Mutarelli, Vincenzo Nigro, Francesco Testa, Sandro Banfi, Francesca Simonelli
Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal Dystrophies. Genes 8 (10) (2017)
Sara Barbato, Elena Marrocco, Daniela Intartaglia, Mariateresa Pizzo, Sabrina Asteriti, Federica Naso, Danila Falanga, Rajeshwari S Bhat, Nicola Meola, Annamaria Carissimo, Marianthi Karali, Haydn M Prosser, Lorenzo Cangiano, Enrico Maria Surace, Francesca Simonelli, Ivan Conte
MiR-211 is essential for adult cone photoreceptor maintenance and visual function. Scientific reports 7 (1) (2017)