Alessandra Renieri (A Renieri)

ResearcherID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 81

Top Venues

European journal of human genetics : EJHG

Genes

Cells

Nature communications

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

Publications

Bradley S Jermy, Kristi Läll, Brooke N Wolford, Ying Wang, Kristina Zguro, Yipeng Cheng, Masahiro Kanai, Stavroula Kanoni, Zhiyu Yang, Tuomo Hartonen, Remo Monti, Julian Wanner, Omar Youssef, null null, null null, Christoph Lippert, David A van Heel, Yukinori Okada, Daniel L McCartney, Caroline Hayward, Riccardo E Marioni, Simone Furini, Alessandra Renieri, Alicia R Martin, Benjamin M Neale, Kristian Hveem, Reedik Mägi, Aarno Palotie, Henrike O Heyne, Nina J Mars, Andrea Ganna, Samuli Ripatti
A unified framework for estimating country-specific cumulative incidence for 18 diseases stratified by polygenic risk. Nature communications 15 (1) (2024)
Aniket Bhattacharya, Paola Parlanti, Luca Cavallo, Edward Farrow, Tyler Spivey, Alessandra Renieri, Francesca Mari, M Chiara Manzini
A novel framework for functional annotation of variants of uncertain significance in ID/ASD risk gene CC2D1A. Human molecular genetics 33 (14) (2024)
Martina Esposito, Francesca Minnai, Massimiliano Copetti, Giuseppe Miscio, Rita Perna, Ada Piepoli, Gabriella De Vincentis, Mario Benvenuto, Paola D'Addetta, Susanna Croci, Margherita Baldassarri, Mirella Bruttini, Chiara Fallerini, Raffaella Brugnoni, Paola Cavalcante, Fulvio Baggi, Elena Maria Grazia Corsini, Emilio Ciusani, Francesca Andreetta, Tommaso A Dragani, Maddalena Fratelli, Massimo Carella, Renato E Mantegazza, Alessandra Renieri, Francesca Colombo
Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response. Communications medicine 4 (1) (2024)
Aniket Bhattacharya, Paola Parlanti, Luca Cavallo, Edward Farrow, Tyler Spivey, Alessandra Renieri, Francesca Mari, M Chiara Manzini
A novel framework for functional annotation of variants of uncertain significance in ID/ASD risk gene CC2D1A. Human molecular genetics 33 (14) (2024)
Aniket Bhattacharya, Paola Parlanti, Luca Cavallo, Edward Farrow, Tyler Spivey, Alessandra Renieri, Francesca Mari, M Chiara Manzini
A novel framework for functional annotation of variants of uncertain significance in ID/ASD risk gene CC2D1A. Human molecular genetics (2024)
Bradley S Jermy, Kristi Läll, Brooke N Wolford, Ying Wang, Kristina Zguro, Yipeng Cheng, Masahiro Kanai, Stavroula Kanoni, Zhiyu Yang, Tuomo Hartonen, Remo Monti, Julian Wanner, Omar Youssef, null null, null null, Christoph Lippert, David A van Heel, Yukinori Okada, Daniel L McCartney, Caroline Hayward, Riccardo E Marioni, Simone Furini, Alessandra Renieri, Alicia R Martin, Benjamin M Neale, Kristian Hveem, Reedik Mägi, Aarno Palotie, Henrike O Heyne, Nina J Mars, Andrea Ganna, Samuli Ripatti
A unified framework for estimating country-specific cumulative incidence for 18 diseases stratified by polygenic risk. Nature communications 15 (1) (2024)
Martina Esposito, Francesca Minnai, Massimiliano Copetti, Giuseppe Miscio, Rita Perna, Ada Piepoli, Gabriella De Vincentis, Mario Benvenuto, Paola D'Addetta, Susanna Croci, Margherita Baldassarri, Mirella Bruttini, Chiara Fallerini, Raffaella Brugnoni, Paola Cavalcante, Fulvio Baggi, Elena Maria Grazia Corsini, Emilio Ciusani, Francesca Andreetta, Tommaso A Dragani, Maddalena Fratelli, Massimo Carella, Renato E Mantegazza, Alessandra Renieri, Francesca Colombo
Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response. Communications medicine 4 (1) (2024)
Bradley S Jermy, Kristi Läll, Brooke N Wolford, Ying Wang, Kristina Zguro, Yipeng Cheng, Masahiro Kanai, Stavroula Kanoni, Zhiyu Yang, Tuomo Hartonen, Remo Monti, Julian Wanner, Omar Youssef, null null, null null, Christoph Lippert, David A van Heel, Yukinori Okada, Daniel L McCartney, Caroline Hayward, Riccardo E Marioni, Simone Furini, Alessandra Renieri, Alicia R Martin, Benjamin M Neale, Kristian Hveem, Reedik Mägi, Aarno Palotie, Henrike O Heyne, Nina J Mars, Andrea Ganna, Samuli Ripatti
A unified framework for estimating country-specific cumulative incidence for 18 diseases stratified by polygenic risk. Nature communications 15 (1) (2024)
Martina Esposito, Francesca Minnai, Massimiliano Copetti, Giuseppe Miscio, Rita Perna, Ada Piepoli, Gabriella De Vincentis, Mario Benvenuto, Paola D'Addetta, Susanna Croci, Margherita Baldassarri, Mirella Bruttini, Chiara Fallerini, Raffaella Brugnoni, Paola Cavalcante, Fulvio Baggi, Elena Maria Grazia Corsini, Emilio Ciusani, Francesca Andreetta, Tommaso A Dragani, Maddalena Fratelli, Massimo Carella, Renato E Mantegazza, Alessandra Renieri, Francesca Colombo
Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response. Communications medicine 4 (1) (2024)
Judy Savige, Helen Storey, Elizabeth Watson, Jens Michael Hertz, Constantinos Deltas, Alessandra Renieri, Francesca Mari, Pascale Hilbert, Pavlina Plevova, Peter Byers, Agne Cerkauskaite, Martin Gregory, Rimante Cerkauskiene, Danica Galesic Ljubanovic, Francesca Becherucci, Carmela Errichiello, Laura Massella, Valeria Aiello, Rachel Lennon, Louise Hopkinson, Ania Koziell, Adrian Lungu, Hansjorg Martin Rothe, Julia Hoefele, Miriam Zacchia, Tamara Nikuseva Martic, Asheeta Gupta, Albertien van Eerde, Susie Gear, Samuela Landini, Viviana Palazzo, Laith Al-Rabadi, Kathleen J Claes, Anniek Corveleyn, Evelien Van Hoof, Micheel van Geel, Maggie Williams, Emma Ashton, Hendica Belge, Elisabeth Ars, Agnieszka Bierzynska, Concetta Gangemi, Beata S Lipska-Ziętkiewicz
Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria. European journal of human genetics : EJHG (2023)
Camilla Cittadini, Elena Angela Pia Germinario, Zaira Maroccia, Livia Cosentino, Valeria Maselli, Lucrezia Gambardella, Massimo Giambenedetti, Marco Guidotti, Sara Travaglione, Chiara Fallerini, Alessandra Renieri, David Israel Escobar Marcillo, Laura Ricceri, Paola Fortini, Bianca De Filippis, Carla Fiorentini, Alessia Fabbri
Effects of the Rho GTPase-activating toxin CNF1 on fibroblasts derived from Rett syndrome patients: A pilot study. Journal of cellular and molecular medicine (2023)
Lenka Stolarova, Petra Kleiblova, Petra Zemankova, Barbora Stastna, Marketa Janatova, Jana Soukupova, Maria Isabel Waddington Achatz, Christine B Ambrosone, Paraskevi Apostolou, Banu K Arun, Paul L Auer, Mollie E Barnard, Birgitte Bertelsen, null null, Marinus J Blok, Nicholas J Boddicker, Joan Brunet, Elizabeth S Burnside, Mariarosaria Calvello, Ian G Campbell, Sock Hoai Chan, Fei Chen, Jian Bang Chiang, Anna Coppa, Laura Cortesi, Ana Crujeiras-González, null null, Kim De Leeneer, Robin de Putter, Allison DePersia, Lisa Devereux, Susan M Domchek, Anna Efremidis, Christoph Engel, Corinna Ernst, Dafydd Gareth Evans, Lidia Feliubadaló, Florentia Fostira, Olivia Fuentes-Ríos, Encarna B Gómez-García, Sara González, Christopher A Haiman, Thomas Van Overeem Hansen, Jan Hauke, James M Hodge, Chunling Hu, Hongyan Huang, Nur Diana Binte Ishak, Yusuke Iwasaki, Irene Konstantopoulou, Peter Kraft, James V Lacey, Conxi Lazaro Garcia, Na Li, Weng Khong Lim, Sara Lindström, Adriana Lori, María Elena Martínez, Alexandra Martins, Koichi Matsuda, Giuseppe Matullo, Simone McInerny, Kyriaki Michailidou, Marco Montagna, Alvaro N A Monteiro, Luigi Mori, Katherine L Nathanson, Susan L Neuhausen, Heli Nevanlinna, Janet E Olson, Julie R Palmer, Barbara Pasini, Alpa V Patel, Maria Piane, Bruce Poppe, Paolo Radice, Alessandra Renieri, Nicoletta Resta, Marcy E Richardson, Toon Rosseel, Kathryn J Ruddy, Marta Santamariña, Elizabeth Santana Dos Santos, Lauren R Teras, Amanda Ewart Toland, Amy Trentham-Dietz, Celine M Vachon, Alexander E Volk, Nana Weber-Lassalle, Jeffrey N Weitzel, Lisa Wiesmuller, Stacey J Winham, Siddhartha Yadav, Drakoulis Yannoukakos, Song Yao, Valentina Zampiga, Magnus Zethoven, Ze Wen Zhang, Tomáš Zima, Amanda B Spurdle, Ana Vega, Maria Rossing, Jesús Del Valle, Arcangela De Nicolo, Eric Hahnen, Kathleen B M Claes, Joanne Ngeow Yuen Yie, Yukihide Momozawa, Paul A James, Fergus J Couch, Libor Macůrek, Zdenek Kleibl
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk. Clinical cancer research : an official journal of the American Association for Cancer Research (2023)
Stefania Mantovani, Barbara Oliviero, Stefania Varchetta, Alessandra Renieri, Mario Umberto Mondelli
TLRs: Innate Immune Sentries against SARS-CoV-2 Infection. International journal of molecular sciences 24 (9) (2023)
Luisa Ronzoni, Matteo Mureddu, Francesco Malvestiti, Vittoria Moretti, Cristiana Bianco, Giulia Periti, Margherita Baldassarri, Francesca Ariani, Anna Carrer, Serena Pelusi, Alessandra Renieri, Daniele Prati, Luca Valenti
Liver Involvement in Patients with Rare MBOAT7 Variants and Intellectual Disability: A Case Report and Literature Review. Genes 14 (8) (2023)
Constantinos Deltas, Gregory Papagregoriou, Stavroula F Louka, Apostolos Malatras, Frances Flinter, Daniel P Gale, Susie Gear, Oliver Gross, Julia Hoefele, Rachel Lennon, Jeffrey H Miner, Alessandra Renieri, Judy Savige, A Neil Turner
Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice. Genes 14 (9) (2023)
Chiara Fallerini, Sergio Daga, Elisa Benetti, Nicola Picchiotti, Kristina Zguro, Francesca Catapano, Virginia Baroni, Simone Lanini, Alessandro Bucalossi, Giuseppe Marotta, Francesca Colombo, Margherita Baldassarri, Francesca Fava, Giada Beligni, Laura Di Sarno, Diana Alaverdian, Maria Palmieri, Susanna Croci, Andrea M Isidori, Simone Furini, Elisa Frullanti, null null, Alessandra Renieri, Francesca Mari
Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males. Journal of hematology & oncology 16 (1) (2023)
Chiara Fallerini, Sergio Daga, Elisa Benetti, Nicola Picchiotti, Kristina Zguro, Francesca Catapano, Virginia Baroni, Simone Lanini, Alessandro Bucalossi, Giuseppe Marotta, Francesca Colombo, Margherita Baldassarri, Francesca Fava, Giada Beligni, Laura Di Sarno, Diana Alaverdian, Maria Palmieri, Susanna Croci, Andrea M Isidori, Simone Furini, Elisa Frullanti, null null, Alessandra Renieri, Francesca Mari
Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males. Journal of hematology & oncology 16 (1) (2023)
Silvia Leoncini, Lidia Boasiako, Diego Lopergolo, Maria Altamura, Caterina Fazzi, Roberto Canitano, Salvatore Grosso, Ilaria Meloni, Margherita Baldassarri, Susanna Croci, Alessandra Renieri, Mario Mastrangelo, Claudio De Felice
Natural Course of IQSEC2 -Related Encephalopathy: An Italian National Structured Survey. Children (Basel, Switzerland) 10 (9) (2023)
Stefania Mantovani, Barbara Oliviero, Stefania Varchetta, Alessandra Renieri, Mario Umberto Mondelli
TLRs: Innate Immune Sentries against SARS-CoV-2 Infection. International journal of molecular sciences 24 (9) (2023)
Sergio Daga, Jie Ding, Constantinos Deltas, Judy Savige, Beata Stefania Lipska-Ziętkiewicz, Julia Hoefele, Frances Flinter, Daniel P Gale, Marina Aksenova, Hirofumi Kai, Laura Perin, Moumita Barua, Roser Torra, Jeffery H Miner, Laura Massella, Danica Galešić Ljubanović, Rachel Lennon, Andrè B Weinstock, Bertrand Knebelmann, Agne Cerkauskaite, Susie Gear, Oliver Gross, A Neil Turner, Margherita Baldassarri, Anna Maria Pinto, Alessandra Renieri
Correction: The 2019 and 2021 International workshops on Alport syndrome. European journal of human genetics : EJHG (2023)
Francesca Catapano, Mohamed El Hachmi, Natacha Ketterer-Heng, Alessandra Renieri, Francesca Mari, Michael Morris, Christophe Cordier
Correction: The role of the genetic counsellor in the multidisciplinary team: the perception of geneticists in Europe. European journal of human genetics : EJHG (2023)
Sura Hilal Ahmed Al Sammarraie, Domenico Aprile, Ilaria Meloni, Nicola Alessio, Francesca Mari, Marianna Manata, Caterina Lo Rizzo, Giovanni Di Bernardo, Gianfranco Peluso, Alessandra Renieri, Umberto Galderisi
An Example of Neuro-Glial Commitment and Differentiation of Muse Stem Cells Obtained from Patients with IQSEC2 -Related Neural Disorder: A Possible New Cell-Based Disease Model. Cells 12 (7) (2023)
Sergio Daga, Francesco Donati, Katia Capitani, Susanna Croci, Rossella Tita, Annarita Giliberti, Floriana Valentino, Elisa Benetti, Chiara Fallerini, Francesca Niccheri, Margherita Baldassarri, Maria Antonietta Mencarelli, Elisa Frullanti, Simone Furini, Silvestro Giovanni Conticello, Alessandra Renieri, Anna Maria Pinto
Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells. European journal of human genetics : EJHG (2023)
Alessandra Renieri
COVID-19: a challenge and an opportunity. European journal of human genetics : EJHG 30 (8) (2022)
Margherita Baldassarri, Kristina Zguro, Valeria Tomati, Cristina Pastorino, Francesca Fava, Susanna Croci, Mirella Bruttini, Nicola Picchiotti, Simone Furini, Nicoletta Pedemonte, Chiara Gabbi, Alessandra Renieri, Chiara Fallerini, null null
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes. Cells 11 (24) (2022)
Gabriella Doddato, Alessandra Fabbiani, Valeria Scandurra, Roberto Canitano, Maria Antonietta Mencarelli, Alessandra Renieri, Francesca Ariani
Identification of a Novel SHANK2 Pathogenic Variant in a Patient with a Neurodevelopmental Disorder. Genes 13 (4) (2022)
Charles J Buchanan, Benjamin Gaunt, Peter J Harrison, Yun Yang, Jiwei Liu, Aziz Khan, Andrew M Giltrap, Audrey Le Bas, Philip N Ward, Kapil Gupta, Maud Dumoux, Tiong Kit Tan, Lisa Schimaski, Sergio Daga, Nicola Picchiotti, Margherita Baldassarri, Elisa Benetti, Chiara Fallerini, Francesca Fava, Annarita Giliberti, Panagiotis I Koukos, Matthew J Davy, Abirami Lakshminarayanan, Xiaochao Xue, Georgios Papadakis, Lachlan P Deimel, Virgínia Casablancas-Antràs, Timothy D W Claridge, Alexandre M J J Bonvin, Quentin J Sattentau, Simone Furini, Marco Gori, Jiandong Huo, Raymond J Owens, Christiane Schaffitzel, Imre Berger, Alessandra Renieri, null null, James H Naismith, Andrew J Baldwin, Benjamin G Davis
Pathogen-sugar interactions revealed by universal saturation transfer analysis. Science (New York, N.Y.) 377 (6604) (2022)
Margherita Baldassarri, Kristina Zguro, Valeria Tomati, Cristina Pastorino, Francesca Fava, Susanna Croci, Mirella Bruttini, Nicola Picchiotti, Simone Furini, null Gen-Covid Multicenter Study, Nicoletta Pedemonte, Chiara Gabbi, Alessandra Renieri, Chiara Fallerini
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes. Cells 11 (24) (2022)
Margherita Baldassarri, Kristina Zguro, Valeria Tomati, Cristina Pastorino, Francesca Fava, Susanna Croci, Mirella Bruttini, Nicola Picchiotti, Simone Furini, null Gen-Covid Multicenter Study, Nicoletta Pedemonte, Chiara Gabbi, Alessandra Renieri, Chiara Fallerini
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes. Cells 11 (24) (2022)
Kristina Zguro, Chiara Fallerini, Francesca Fava, Simone Furini, Alessandra Renieri
Host genetic basis of COVID-19: from methodologies to genes. European journal of human genetics : EJHG 30 (8) (2022)
Kristina Zguro, Margherita Baldassarri, Francesca Fava, Giada Beligni, Sergio Daga, Roberto Leoncini, Lucrezia Galasso, Michele Cirianni, Stefano Rusconi, Matteo Siano, Daniela Francisci, Elisabetta Schiaroli, Sauro Luchi, Giovanna Morelli, Enrico Martinelli, Massimo Girardis, Stefano Busani, Saverio Giuseppe Parisi, Sandro Panese, Carmelo Piscopo, Mario Capasso, Danilo Tacconi, Chiara Spertilli Raffaelli, Annarita Giliberti, Giulia Gori, Peter D Katsikis, Maria Lorubbio, Paola Calzoni, Agostino Ognibene, Monica Bocchia, Monica Tozzi, Alessandro Bucalossi, Giuseppe Marotta, Simone Furini, null Gen-Covid Multicenter Study, Alessandra Renieri, Chiara Fallerini
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19. Viruses 14 (6) (2022)
Lucia Pia Bruno, Gabriella Doddato, Margherita Baldassarri, Caterina Lo Rizzo, Sara Resciniti, Mirella Bruttini, Lista Mirjam, Kristina Zguro, Simone Furini, Maria Antonietta Mencarelli, Alessandra Renieri, Francesca Ariani
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients. American journal of medical genetics. Part A (2022)
Francesca Catapano, Mohamed El Hachmi, Natacha Ketterer-Heng, Alessandra Renieri, Francesca Mari, Michael Morris, Christophe Cordier
The role of the Genetic Counsellor in the multidisciplinary team: the perception of geneticists in Europe. European journal of human genetics : EJHG 30 (12) (2022)
Sergio Daga, Jie Ding, Constantinos Deltas, Judy Savige, Beata Stefania Lipska-Ziętkiewicz, Julia Hoefele, Frances Flinter, Daniel P Gale, Marina Aksenova, Hirofumi Kai, Laura Perin, Moumita Barua, Roser Torra, Jeffery H Miner, Laura Massella, Danica Galešić Ljubanović, Rachel Lennon, Andrè B Weinstock, Bertrand Knebelmann, Agne Cerkauskaite, Susie Gear, Oliver Gross, A Neil Turner, Margherita Baldassarri, Anna Maria Pinto, Alessandra Renieri
The 2019 and 2021 International Workshops on Alport Syndrome. European journal of human genetics : EJHG 30 (5) (2022)
Alisdair McNeill, Maria-Del-Mar Amador, Hilary Bekker, Angus John Clarke, Ashley Crook, Cathy Cummings, Alison McEwen, Christopher McDermott, Oliver Quarrell, Alessandra Renieri, Jennifer Roggenbuck, Kristiana Salmon, Alexander Volk, Jochen Weishaupt, null null
Predictive genetic testing for Motor neuron disease: time for a guideline? European journal of human genetics : EJHG 30 (6) (2022)
Margherita Baldassarri, Kristina Zguro, Valeria Tomati, Cristina Pastorino, Francesca Fava, Susanna Croci, Mirella Bruttini, Nicola Picchiotti, Simone Furini, Nicoletta Pedemonte, Chiara Gabbi, Alessandra Renieri, Chiara Fallerini, null null
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes. Cells 11 (24) (2022)
Guillaume Butler-Laporte, Gundula Povysil, Jack A Kosmicki, Elizabeth T Cirulli, Theodore G Drivas, Simone Furini, Chadi Saad, Axel Schmidt, Pawel Olszewski, Urszula Korotko, Mathieu Quinodoz, Elifnaz Celik, Kousik Kundu, Klaudia Walter, Junghyun Jung, Amy D Stockwell, Laura G Sloofman G Sloofman, Daniel M Jordan, Ryan C Thompson, Diane M Del Valle, Nicole W Simons, Esther Cheng, Robert Sebra, Eric E Schadt, Seunghee Kim-Schulze, Sacha Gnjatic, Miriam Merad, Joseph D Buxbaum, Noam D Beckmann, Alexander W Charney, Bartlomiej Przychodzen, Timothy S Chang, Tess D Pottinger, Ning Shang, Fabian Brand, Francesca Fava, Francesca Mari, Karolina Chwialkowska, Magdalena Niemira, Szymon Pula, J Kenneth Baillie, Alex Stuckey, Antonio Salas, Xabier Bello, Jacobo Pardo-Seco, Alberto Gómez-Carballa, Irene Rivero-Calle, Federico Martinón-Torres, Andrea Ganna, Konrad J Karczewski, Kumar Veerapen, Mathieu Bourgey, Guillaume Bourque, Robert Jm Eveleigh, Vincenzo Forgetta, David R Morrison, David Langlais, Mark Lathrop, Vincent Mooser, Tomoko Nakanishi, Robert Frithiof, Michael Hultström, Miklos Lipcsey, Yanara Marincevic-Zuniga, Jessica Nordlund, Kelly M Schiabor Barrett, William Lee, Alexandre Bolze, Simon White, Stephen Riffle, Francisco Tanudjaja, Efren Sandoval, Iva Neveux, Shaun Dabe, Nicolas Casadei, Susanne Motameny, Manal Alaamery, Salam Massadeh, Nora Aljawini, Mansour S Almutairi, Yaseen M Arabi, Saleh A Alqahtani, Fawz S Al Harthi, Amal Almutairi, Fatima Alqubaishi, Sarah Alotaibi, Albandari Binowayn, Ebtehal A Alsolm, Hadeel El Bardisy, Mohammad Fawzy, Fang Cai, Nicole Soranzo, Adam Butterworth, null null, null null, null null, null null, null null, null null, null null, null null, Daniel H Geschwind, Stephanie A Arteaga, Alexis Stephens, Manish J Butte, Paul C Boutros, Takafumi N Yamaguchi, Shu Tao, Stefan E Eng, Timothy Sanders, Paul J Tung, Michael E Broudy, Yu Pan, Alfredo E Gonzalez, Nikhil Chavan, Ruth Johnson, Bogdan Pasaniuc, Brian L Yaspan, Christos M Polymeropoulos, Carlo Rivolta, Stephanie Bibert, Pierre-Yves Bochud, Maciej Dąbrowski, Pawel Zawadzki, Mateusz Sypniewski, Elżbieta Kaja, Pajaree Chariyavilaskul, Voraphoj Nilaratanakul, Nattiya Hirankarn, Vorasuk Shotelersuk, Monnat Pongpanich, Chureerat Phokaew, Wanna Chetruengchai, Katsushi Tokunaga, Masaya Sugiyama, Yosuke Kawai, Takanori Hasegawa, Tatsuhiko Naito, Ho Namkoong, Ryuya Edahiro, Akinori Kimura, Seishi Ogawa, Takanori Kanai, Koichi Fukunaga, Yukinori Okada, Seiya Imoto, Satoru Miyano, Serghei Mangul, Malak S Abedalthagafi, Hugo Zeberg, Joseph J Grzymski, Nicole L Washington, Stephan Ossowski, Kerstin U Ludwig, Eva C Schulte, Olaf Riess, Marcin Moniuszko, Miroslaw Kwasniewski, Hamdi Mbarek, Said I Ismail, Anurag Verma, David B Goldstein, Krzysztof Kiryluk, Alessandra Renieri, Manuel A R Ferreira, John Brent Richards
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative. PLoS genetics 18 (11) (2022)
Anthony Onoja, Nicola Picchiotti, Chiara Fallerini, Margherita Baldassarri, Francesca Fava, null null, Francesca Colombo, Francesca Chiaromonte, Alessandra Renieri, Simone Furini, Francesco Raimondi
An explainable model of host genetic interactions linked to COVID-19 severity. Communications biology 5 (1) (2022)
Viola Bianca Serio, Maria Palmieri, Lorenzo Loberti, Stefania Granata, Chiara Fallerini, Massimo Vaghi, Alessandra Renieri, Anna Maria Pinto
Nosological and Theranostic Approach to Vascular Malformation through cfDNA NGS Liquid Biopsy. Journal of clinical medicine 11 (13) (2022)
Margherita Baldassarri, Kristina Zguro, Valeria Tomati, Cristina Pastorino, Francesca Fava, Susanna Croci, Mirella Bruttini, Nicola Picchiotti, Simone Furini, null Gen-Covid Multicenter Study, Nicoletta Pedemonte, Chiara Gabbi, Alessandra Renieri, Chiara Fallerini
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes. Cells 11 (24) (2022)
Lorenzo Loberti, Lucia Pia Bruno, Stefania Granata, Gabriella Doddato, Sara Resciniti, Francesca Fava, Michele Carullo, Elisa Rahikkala, Guillaume Jouret, Leonie A Menke, Damien Lederer, Pascal Vrielynck, Lukáš Ryba, Nicola Brunetti-Pierri, Amaia Lasa-Aranzasti, Anna Maria Cueto-González, Laura Trujillano, Irene Valenzuela, Eduardo F Tizzano, Alessandro Mauro Spinelli, Irene Bruno, Aurora Currò, Franco Stanzial, Francesco Benedicenti, Diego Lopergolo, Filippo Maria Santorelli, Constantia Aristidou, George A Tanteles, Isabelle Maystadt, Tinatin Tkemaladze, Tiia Reimand, Helen Lokke, Katrin Õunap, Maria K Haanpää, Andrea Holubová, Veronika Zoubková, Martin Schwarz, Riina Žordania, Kai Muru, Laura Roht, Annika Tihveräinen, Rita Teek, Ulvi Thomson, Atallah Isis, Andrea Superti-Furga, Sabrina Buoni, Roberto Canitano, Valeria Scandurra, Annalisa Rossetti, Salvatore Grosso, Roberta Battini, Margherita Baldassarri, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Mirella Bruttini, Francesca Mari, Francesca Ariani, Alessandra Renieri, Anna Maria Pinto
Natural history of KBG syndrome in a large European cohort. Human molecular genetics (2022)
Judy Savige, Alessandra Renieri, Elisabet Ars, Sergio Daga, Anna Maria Pinto, Hansjorg Rothe, Daniel P Gale, Marina Aksenova, Agne Cerkauskaite, Olga Bielska, Beata Stefania Lipska-Ziętkiewicz, Joel T Gibson
Digenic Alport Syndrome. Clinical journal of the American Society of Nephrology : CJASN 17 (11) (2022)
Diego Lopergolo, Flavia Privitera, Giuseppe Castello, Caterina Lo Rizzo, Maria Antonietta Mencarelli, Anna Maria Pinto, Francesca Ariani, Aurora Currò, Vittoria Lamacchia, Roberto Canitano, Elisabetta Vaghi, Alessandra Ferrarini, Gerardo Mejia Baltodano, Damien Lederer, Lionel Van Maldergem, Mercedes Serrano, Mercè Pineda, Maria Del Carmen Fons-Estupina, Hilde Van Esch, Jeroen Breckpot, Candy Kumps, Bert Callewaert, Sabrina Mueller, Gian Paolo Ramelli, Judith Armstrong, Alessandra Renieri, Francesca Mari
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum? Clinical genetics 99 (3) (2021)
Sergio Daga, Chiara Fallerini, Margherita Baldassarri, Francesca Fava, Floriana Valentino, Gabriella Doddato, Elisa Benetti, Simone Furini, Annarita Giliberti, Rossella Tita, Sara Amitrano, Mirella Bruttini, Ilaria Meloni, Anna Maria Pinto, Francesco Raimondi, Alessandra Stella, Filippo Biscarini, Nicola Picchiotti, Marco Gori, Pietro Pinoli, Stefano Ceri, Maurizio Sanarico, Francis P Crawley, Giovanni Birolo, null null, Alessandra Renieri, Francesca Mari, Elisa Frullanti
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research. European journal of human genetics : EJHG 29 (5) (2021)
Flavia Privitera, Arianna Calonaci, Gabriella Doddato, Filomena Tiziana Papa, Margherita Baldassarri, Anna Maria Pinto, Francesca Mari, Ilaria Longo, Mauro Caini, Daniela Galimberti, Theodora Hadjistilianou, Sonia De Francesco, Alessandra Renieri, Francesca Ariani
13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay. Genes 12 (9) (2021)
Mario Fruschelli, Nicola Lorusso, Theodora Hadjistilianou, Maria Antonietta Mencarelli, Mirella Bruttini, Alessandra Renieri, Marco Mandalà, Alessandro Di Maggio
Novel retinal finding in a patient with 4q12 deletion. Ophthalmic genetics (2021)
Chiara Fallerini, Sergio Daga, Elisa Benetti, Nicola Picchiotti, Kristina Zguro, Francesca Catapano, Virginia Baroni, Simone Lanini, Alessandro Bucalossi, Giuseppe Marotta, Francesca Colombo, Margherita Baldassarri, Francesca Fava, Giada Beligni, Laura Di Sarno, Diana Alaverdian, Maria Palmieri, Susanna Croci, Andrea M Isidori, Simone Furini, Elisa Frullanti, null null, Alessandra Renieri, Francesca Mari
SELP Asp603Asn and severe thrombosis in COVID-19 males. Journal of hematology & oncology 14 (1) (2021)
Margherita Baldassarri, Francesca Fava, Chiara Fallerini, Sergio Daga, Elisa Benetti, Kristina Zguro, Sara Amitrano, Floriana Valentino, Gabriella Doddato, Annarita Giliberti, Laura Di Sarno, Maria Palmieri, Miriam Lucia Carriero, Diana Alaverdian, Giada Beligni, Nicola Iuso, Francesco Castelli, Eugenia Quiros-Roldan, Mario Umberto Mondelli, Rosalba Miceli, Elisa Frullanti, Simone Furini, Francesca Mari, Alessandra Renieri, Chiara Gabbi, null On Behalf Of The Gen-Covid Multicenter Study
Severe COVID-19 in Hospitalized Carriers of Single CFTR Pathogenic Variants. Journal of personalized medicine 11 (6) (2021)
Susanna Croci, Mary Anna Venneri, Stefania Mantovani, Chiara Fallerini, Elisa Benetti, Nicola Picchiotti, Federica Campolo, Francesco Imperatore, Maria Palmieri, Sergio Daga, Chiara Gabbi, Francesca Montagnani, Giada Beligni, Ticiana D J Farias, Miriam Lucia Carriero, Laura Di Sarno, Diana Alaverdian, Sigrid Aslaksen, Maria Vittoria Cubellis, Ottavia Spiga, Margherita Baldassarri, Francesca Fava, Paul J Norman, Elisa Frullanti, Andrea M Isidori, Antonio Amoroso, Francesca Mari, Simone Furini, Mario Umberto Mondelli, null Gen-Covid Multicenter Study, Mario Chiariello, Alessandra Renieri, Ilaria Meloni
The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males. Autophagy 18 (7) (2021)
Isabella Zanella, Eliana Zacchi, Simone Piva, Massimiliano Mirabella, Giada Beligni, Diana Alaverdian, Sara Amitrano, Francesca Fava, Margherita Baldassarri, Elisa Frullanti, Ilaria Meloni, Alessandra Renieri, null null, null null, Francesco Castelli, Eugenia Quiros-Roldan
C9orf72 Intermediate Repeats Confer Genetic Risk for Severe COVID-19 Pneumonia Independently of Age. International journal of molecular sciences 22 (13) (2021)
Chiara Fallerini, Nicola Picchiotti, Margherita Baldassarri, Kristina Zguro, Sergio Daga, Francesca Fava, Elisa Benetti, Sara Amitrano, Mirella Bruttini, Maria Palmieri, Susanna Croci, Mirjam Lista, Giada Beligni, Floriana Valentino, Ilaria Meloni, Marco Tanfoni, Francesca Minnai, Francesca Colombo, Enrico Cabri, Maddalena Fratelli, Chiara Gabbi, Stefania Mantovani, Elisa Frullanti, Marco Gori, Francis P Crawley, Guillaume Butler-Laporte, Brent Richards, Hugo Zeberg, Miklos Lipcsey, Michael Hultström, Kerstin U Ludwig, Eva C Schulte, Erola Pairo-Castineira, John Kenneth Baillie, Axel Schmidt, Robert Frithiof, null null, null null, null null, Francesca Mari, Alessandra Renieri, Simone Furini
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity. Human genetics (2021)
Chiara Fallerini, Sergio Daga, Stefania Mantovani, Elisa Benetti, Nicola Picchiotti, Daniela Francisci, Francesco Paciosi, Elisabetta Schiaroli, Margherita Baldassarri, Francesca Fava, Maria Palmieri, Serena Ludovisi, Francesco Castelli, Eugenia Quiros-Roldan, Massimo Vaghi, Stefano Rusconi, Matteo Siano, Maria Bandini, Ottavia Spiga, Katia Capitani, Simone Furini, Francesca Mari, null null, Alessandra Renieri, Mario U Mondelli, Elisa Frullanti
Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males: findings from a nested case-control study. eLife 10 (2021)
Diego Lopergolo, Silvia Bocci, Anna Maria Pinto, Floriana Valentino, Gabriella Doddato, Federica Ginanneschi, Nila Volpi, Alessandra Renieri, Fabio Giannini
A new mutation in DNM2 gene in a large Italian family. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 42 (6) (2021)
Stefania Mantovani, Sergio Daga, Chiara Fallerini, Margherita Baldassarri, Elisa Benetti, Nicola Picchiotti, Francesca Fava, Anna Galli, Silvia Zibellini, Mirella Bruttini, Maria Palmieri, Susanna Croci, Sara Amitrano, Diana Alaverdian, Katia Capitani, Simone Furini, Francesca Mari, Ilaria Meloni, null null, Elisa Frullanti, Mario Umberto Mondelli, Alessandra Renieri
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients. Genes and immunity 23 (1) (2021)
Maria Monticelli, Bruno Hay Mele, Elisa Benetti, Chiara Fallerini, Margherita Baldassarri, Simone Furini, Elisa Frullanti, Francesca Mari, Giuseppina Andreotti, Maria Vittoria Cubellis, Alessandra Renieri, null null
Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women. Genes 12 (4) (2021)
Francesca Anna Cupaioli, Chiara Fallerini, Maria Antonietta Mencarelli, Valentina Perticaroli, Virginia Filippini, Francesca Mari, Alessandra Renieri, Alessandra Mezzelani
Autism Spectrum Disorders: Analysis of Mobile Elements at 7q11.23 Williams-Beuren Region by Comparative Genomics. Genes 12 (10) (2021)
Judy Savige, Helen Storey, Elizabeth Watson, Jens Michael Hertz, Constantinos Deltas, Alessandra Renieri, Francesca Mari, Pascale Hilbert, Pavlina Plevova, Peter Byers, Agne Cerkauskaite, Martin Gregory, Rimante Cerkauskiene, Danica Galesic Ljubanovic, Francesca Becherucci, Carmela Errichiello, Laura Massella, Valeria Aiello, Rachel Lennon, Louise Hopkinson, Ania Koziell, Adrian Lungu, Hansjorg Martin Rothe, Julia Hoefele, Miriam Zacchia, Tamara Nikuseva Martic, Asheeta Gupta, Albertien van Eerde, Susie Gear, Samuela Landini, Viviana Palazzo, Laith Al-Rabadi, Kathleen J Claes, Anniek Corveleyn, Evelien Van Hoof, Micheel van Geel, Maggie Williams, Emma Ashton, Hendica Belge, Elisabeth Ars, Agnieszka Bierzynska, Concetta Gangemi, Beata S Lipska-Ziętkiewicz
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria. European journal of human genetics : EJHG 29 (8) (2021)
Lucia Pia Bruno, Francesca Fava, Margherita Baldassarri, Virginia M Salvati, Valeria Scandurra, Roberto Canitano, Floriana Valentino, Gabriella Doddato, Rossella Tita, Annarita Giliberti, Alessandra Renieri, Francesca Ariani
Identification of a Novel Pathogenic Variant in the NAGLU Gene in a Child with Neurodevelopmental Delay. Journal of autism and developmental disorders (2021)
Guillaume Butler-Laporte, Tomoko Nakanishi, Vincent Mooser, David R Morrison, Tala Abdullah, Olumide Adeleye, Noor Mamlouk, Nofar Kimchi, Zaman Afrasiabi, Nardin Rezk, Annarita Giliberti, Alessandra Renieri, Yiheng Chen, Sirui Zhou, Vincenzo Forgetta, John Brent Richards
Vitamin D and COVID-19 susceptibility and severity in the COVID-19 Host Genetics Initiative: A Mendelian randomization study. PLoS medicine 18 (6) (2021)
Judy Savige, Beata Stefania Lipska-Ziętkiewicz, Elizabeth Watson, Jens Michael Hertz, Constantinos Deltas, Francesca Mari, Pascale Hilbert, Pavlina Plevova, Peter Byers, Agne Cerkauskaite, Martin Gregory, Rimante Cerkauskiene, Danica Galesic Ljubanovic, Francesca Becherucci, Carmela Errichiello, Laura Massella, Valeria Aiello, Rachel Lennon, Louise Hopkinson, Ania Koziell, Adrian Lungu, Hansjorg Martin Rothe, Julia Hoefele, Miriam Zacchia, Tamara Nikuseva Martic, Asheeta Gupta, Albertien van Eerde, Susie Gear, Samuela Landini, Viviana Palazzo, Laith Al-Rabadi, Kathleen Claes, Anniek Corveleyn, Evelien Van Hoof, Micheel van Geel, Maggie Williams, Emma Ashton, Hendica Belge, Elisabet Ars, Agnieszka Bierzynska, Concetta Gangemi, Alessandra Renieri, Helen Storey, Frances Flinter
Guidelines for Genetic Testing and Management of Alport Syndrome. Clinical journal of the American Society of Nephrology : CJASN 17 (1) (2021)
Maria Palmieri, Anna Maria Pinto, Laura di Blasio, Aurora Currò, Valentina Monica, Laura Di Sarno, Gabriella Doddato, Margherita Baldassarri, Elisa Frullanti, Annarita Giliberti, Benedetta Mussolin, Chiara Fallerini, Francesco Molinaro, Massimo Vaghi, Alessandra Renieri, Luca Primo
A pilot study of next generation sequencing-liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel-Trenaunay syndrome. Vascular 29 (1) (2020)
Antonio Vitale, Jurgen Sota, Laura Obici, Nicola Ricco, Maria Cristina Maggio, Marco Cattalini, Piero Ruscitti, Francesco Caso, Raffaele Manna, Ombretta Viapiana, Valeria Caggiano, Giacomo Emmi, Antonella Insalaco, Davide Montin, Francesco Licciardi, Alessandra Soriano, Lorenzo Dagna, Carlo Salvarani, Vittoria Lamacchia, José Hernández-Rodríguez, Roberto Giacomelli, Bruno Frediani, Alessandra Renieri, Claudia Fabiani
Role of Colchicine Treatment in Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS): Real-Life Data from the AIDA Network. Mediators of inflammation 2020 (2020)
Susanna Croci, Miriam Lucia Carriero, Katia Capitani, Sergio Daga, Francesco Donati, Filomena Tiziana Papa, Elisa Frullanti, Diego Lopergolo, Vittoria Lamacchia, Rossella Tita, Annarita Giliberti, Elisa Benetti, Francesca Niccheri, Simone Furini, Caterina Lo Rizzo, Silvestro Giovanni Conticello, Alessandra Renieri, Ilaria Meloni
AAV-mediated FOXG1 gene editing in human Rett primary cells. European journal of human genetics : EJHG 28 (10) (2020)
Elisa Benetti, Rossella Tita, Ottavia Spiga, Andrea Ciolfi, Giovanni Birolo, Alessandro Bruselles, Gabriella Doddato, Annarita Giliberti, Caterina Marconi, Francesco Musacchia, Tommaso Pippucci, Annalaura Torella, Alfonso Trezza, Floriana Valentino, Margherita Baldassarri, Alfredo Brusco, Rosanna Asselta, Mirella Bruttini, Simone Furini, Marco Seri, Vincenzo Nigro, Giuseppe Matullo, Tartaglia Marco, Francesca Mari, null null, Alessandra Renieri, Anna Maria Pinto
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population. European journal of human genetics : EJHG 28 (11) (2020)
Maria Palmieri, Margherita Baldassarri, Francesca Fava, Alessandra Fabbiani, Elisa Gelli, Rossella Tita, Pamela Torre, Roberto Petrioli, Theodora Hadijstilianou, Daniela Galimberti, Elisa Cinotti, Carmelo Bengala, Marco Mandalà, Pietro Piu, Salvatora Tindara Miano, Ignazio Martellucci, Agnese Vannini, Anna Maria Pinto, Maria Antonietta Mencarelli, Stefania Marsili, Alessandra Renieri, Elisa Frullanti
Two-point-NGS analysis of cancer genes in cell-free DNA of metastatic cancer patients. Cancer medicine 9 (6) (2020)
Erola Pairo-Castineira, Sara Clohisey, Lucija Klarić, Andrew D Bretherick, Konrad Rawlik, Dorota Pasko, Susan Walker, Nick Parkinson, Max Head Fourman, Clark D Russell, James Furniss, Anne Richmond, Elvina Gountouna, Nicola Wrobel, David Harrison, Bo Wang, Yang Wu, Alison Meynert, Fiona Griffiths, Wilna Oosthuyzen, Athanasios Kousathanas, Loukas Moutsianas, Zhijian Yang, Ranran Zhai, Chenqing Zheng, Graeme Grimes, Rupert C L Beale, Jonathan Millar, Barbara Shih, Sean Keating, Marie Zechner, Christopher S Haley, David J Porteous, Caroline Hayward, Jian Yang, Julian C Knight, Charlotte Summers, Manu Shankar-Hari, Paul Klenerman, Lance C W Turtle, Antonia Ho, Shona C Moore, Charles J Hinds, Peter Horby, Alistair Nichol, David Maslove, Lowell Ling, Daniel Francis McAuley, Hugh E Montgomery, Timothy Walsh, Alexandre C Pereira, Alessandra Renieri, null null, null null, null null, null null, null null, null null, Xia Shen, Chris Paul Ponting, Angie Fawkes, Albert Tenesa, Mark J Caulfield, Richard Scott, Kathryn M Rowan, Lee Murphy, Peter J M Openshaw, Malcolm Gracie Semple, Andrew Law, Veronique Vitart, James F Wilson, John Kenneth Baillie
Genetic mechanisms of critical illness in COVID-19. Nature 591 (7848) (2020)
Carla Gaggiano, Antonio Vitale, Laura Obici, Giampaolo Merlini, Alessandra Soriano, Ombretta Viapiana, Marco Cattalini, Maria Cristina Maggio, Giuseppe Lopalco, Davide Montin, Masen Abdel Jaber, Lorenzo Dagna, Raffaele Manna, Antonella Insalaco, Matteo Piga, Francesco La Torre, Virginia Berlengiero, Viviana Gelardi, Luisa Ciarcia, Giacomo Emmi, Piero Ruscitti, Francesco Caso, Rolando Cimaz, José Hernández-Rodríguez, Paola Parronchi, Ludovico Luca Sicignano, Elena Verrecchia, Florenzo Iannone, Jurgen Sota, Salvatore Grosso, Carlo Salvarani, Bruno Frediani, Roberto Giacomelli, Maria Antonietta Mencarelli, Alessandra Renieri, Donato Rigante, Claudia Fabiani
Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-α Receptor-Associated Periodic Syndrome (TRAPS): A Series of 80 Cases from the AIDA Network. Mediators of inflammation 2020 (2020)
Elisa Benetti, Annarita Giliberti, Arianna Emiliozzi, Floriana Valentino, Laura Bergantini, Chiara Fallerini, Federico Anedda, Sara Amitrano, Edoardo Conticini, Rossella Tita, Miriana d'Alessandro, Francesca Fava, Simona Marcantonio, Margherita Baldassarri, Mirella Bruttini, Maria Antonietta Mazzei, Francesca Montagnani, Marco Mandalà, Elena Bargagli, Simone Furini, null null, Alessandra Renieri, Francesca Mari
Clinical and molecular characterization of COVID-19 hospitalized patients. PloS one 15 (11) (2020)
Francesco Cetta, Alessandra Renieri, Elisa Frullanti
Germline mutations in lung cancer and personalized medicine. Familial cancer 17 (3) (2019)
Elisa Frullanti, Filomena Tiziana Papa, Elisa Grillo, Angus Clarke, Bruria Ben-Zeev, Mercedes Pineda, Nadia Bahi-Buisson, Thierry Bienvenu, Judith Armstrong, Ana Roche Martinez, Francesca Mari, Andreea Nissenkorn, Caterina Lo Rizzo, Edvige Veneselli, Silvia Russo, Aglaia Vignoli, Giorgio Pini, Milena Djuric, Anne-Marie Bisgaard, Kirstine Ravn, Vlatka Mejaski Bosnjak, Joussef Hayek, Rajni Khajuria, Barbara Montomoli, Francesca Cogliati, Maria Pintaudi, Kinga Hadzsiev, Dana Craiu, Victoria Voinova, Aleksandra Djukic, Laurent Villard, Alessandra Renieri
Analysis of the Phenotypes in the Rett Networked Database. International journal of genomics 2019 (2019)
Sergio Daga, Francesco Donati, Katia Capitani, Susanna Croci, Rossella Tita, Annarita Giliberti, Floriana Valentino, Elisa Benetti, Chiara Fallerini, Francesca Niccheri, Margherita Baldassarri, Maria Antonietta Mencarelli, Elisa Frullanti, Simone Furini, Silvestro Giovanni Conticello, Alessandra Renieri, Anna Maria Pinto
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells. European journal of human genetics : EJHG 28 (4) (2019)
Astgik Petrosyan, Paolo Cravedi, Valentina Villani, Andrea Angeletti, Joaquin Manrique, Alessandra Renieri, Roger E De Filippo, Laura Perin, Stefano Da Sacco
Author Correction: A glomerulus-on-a-chip to recapitulate the human glomerular filtration barrier. Nature communications 10 (1) (2019)
Elisa Gelli, Mara Colombo, Anna Maria Pinto, Giovanna De Vecchi, Claudia Foglia, Sara Amitrano, Valeria Morbidoni, Valentina Imperatore, Siranoush Manoukian, Margherita Baldassarri, Caterina Lo Rizzo, Lorenza Catania, Elisa Frullanti, Enrico Tagliafico, Laura Cortesi, Federica Spaggiari, Maria Antonietta Mencarelli, Eva Trevisson, Paolo Radice, Alessandra Renieri, Francesca Ariani
Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance. Cancers 11 (3) (2019)
Maria Palmieri, Margherita Baldassarri, Francesca Fava, Alessandra Fabbiani, Giuseppe Maria Campennì, Maria Antonietta Mencarelli, Rossella Tita, Stefania Marsili, Alessandra Renieri, Elisa Frullanti
PIK3CA-CDKN2A clonal evolution in metastatic breast cancer and multiple points cell-free DNA analysis. Cancer cell international 19 (2019)
Carla Gaggiano, Donato Rigante, Antonio Vitale, Orso Maria Lucherini, Alessandra Fabbiani, Giovanna Capozio, Chiara Marzo, Viviana Gelardi, Salvatore Grosso, Bruno Frediani, Alessandra Renieri, Claudia Fabiani
Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases. Mediators of inflammation 2019 (2019)
S Daga, C Fallerini, S Furini, C Pecoraro, F Scolari, F Ariani, M Bruttini, M A Mencarelli, F Mari, Alessandra Renieri, A M Pinto
Non-collagen genes role in digenic Alport syndrome. BMC nephrology 20 (1) (2019)
Astgik Petrosyan, Paolo Cravedi, Valentina Villani, Andrea Angeletti, Joaquin Manrique, Alessandra Renieri, Roger E De Filippo, Laura Perin, Stefano Da Sacco
A glomerulus-on-a-chip to recapitulate the human glomerular filtration barrier. Nature communications 10 (1) (2019)
G Capecchi, M Baldassarri, Silvia Ferranti, E Guidoni, M Cioni, P Nürnberg, M A Mencarelli, Alessandra Renieri, S Grosso
CKAP2L mutation confirms the diagnosis of Filippi syndrome. Clinical genetics 93 (5) (2018)
Anna Maria Pinto, Filomena T Papa, Elisa Frullanti, Ilaria Meloni, Rossella Tita, Rossella Caselli, Chiara Fallerini, Diego Lopergolo, Francesco Cetta, Maria Antonietta Mencarelli, Monica Bocchia, Alessandro Gozzetti, Alessandra Renieri
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia. British journal of haematology 184 (4) (2018)
Elisa Gelli, Anna Maria Pinto, Serena Somma, Valentina Imperatore, Marta G Cannone, Theodora Hadjistilianou, Sonia De Francesco, Daniela Galimberti, Aurora Currò, Mirella Bruttini, Francesca Mari, Alessandra Renieri, Francesca Ariani
Evidence of predisposing epimutation in retinoblastoma. Human mutation 40 (2) (2018)
Sergio Daga, Margherita Baldassarri, Caterina Lo Rizzo, Chiara Fallerini, Valentina Imperatore, Ilaria Longo, Elisa Frullanti, Elisa Landucci, Laura Massella, Carmine Pecoraro, Guido Garosi, Francesca Ariani, Maria Antonietta Mencarelli, Francesca Mari, Alessandra Renieri, Anna Maria Pinto
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome. Human mutation 39 (2) (2017)

Alessandra Renieri.css-eqlu8i{font-size:small;padding-left:4px;} (A Renieri)

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Alessandra Renieri (A Renieri)