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1.

Bilateral retinoblastoma and osteogenesis imperfecta, a very rare association: Two cases.

De Francesco, Sonia; Sgheri, Arianna; Di Maggio, Alessandro; Rana, Francesco; Anna Maria, Pinto; Alessandra, Renieri; Hadjistilianou, Theodora.

Eur J Ophthalmol ; 31(3): NP81-NP84, 2021 May.

Artículo en Inglés | MEDLINE | ID: mdl-32314604

2.

Omic Approach in Non-smoker Female with Lung Squamous Cell Carcinoma Pinpoints to Germline Susceptibility and Personalized Medicine / Journal of the Korean Cancer Association, 대한암학회지

Margherita BALDASSARRI; Chiara FALLERINI; Francesco CETTA; Marco GHISALBERTI; Cristiana BELLAN; Simone FURINI; Ottavia SPIGA; Sergio CRISPINO; Giuseppe GOTTI; Francesca ARIANI; Piero PALADINI; Alessandra RENIERI; Elisa FRULLANTI.

Cancer Research and Treatment ; : 356-365, 2018.

Artículo en Inglés | WPRIM | ID: wpr-713897

3.

Vitamin D and Covid-19 Susceptibility and Severity: a Mendelian Randomization Study

Guillaume Butler-Laporte; Tomoko Nakanishi; Vincent Mooser; David R Morrison; Tala Abdullah; Olumide Adeleye; Noor Mamlook; Nofar Kimchi; Zaman Afrasiabi; Nardin Rezk; Annarita Giliberti; Alessandra Renieri; Yiheng Chen; Sirui Zhou; Vincenzo Forgetta; J Brent Richards.

Preprint en Inglés | PREPRINT-MEDRXIV | ID: ppmedrxiv-20190975

4.

Common and rare variant analyses combined with single-cell multiomics reveal cell-type-specific molecular mechanisms of COVID-19 severity

Sai Zhang; Johnathan Cooper-Knock; Annika Weimer; Calum Harvey; Thomas Julian; Cheng Wang; Jingjing Li; Simone Furini; Elisa Frullanti; Francesca Fava; Alessandra Renieri; Cuiping Pan; Jina Song; Paul Billing-Ross; Peng Gao; Xiaotao Shen; Ilia Sarah Timpanaro; Kevin Kenna; - VA Million Veteran Program; - GEN-COVID Network; Mark Davis; Philip Tsao; Michael Snyder.

Preprint en Inglés | PREPRINT-MEDRXIV | ID: ppmedrxiv-21258703

5.

SELP Asp603Asn and severe thrombosis in COVID-19 males: implication for anti P-selectin monoclonal antibodies treatment

Chiara Fallerini; Sergio Daga; Elisa Benetti; Nicola Picchiotti; Kristina Zguro; Francesca Catapano; Virginia Baroni; Simone Lanini; Alessandro Bucalossi; Giuseppe Marotta; Margherita Baldassarri; Francesca Fava; Giada Beligni; Laura Di Sarno; Diana Alaverdian; Maria Palmieri; Susanna Croci; Andrea M. Isidori; Simone Furini; Elisa Frullanti; GEN-COVID Multicenter Study; Alessandra Renieri; Francesca Mari.

Preprint en Inglés | PREPRINT-MEDRXIV | ID: ppmedrxiv-21257803

6.

Association of Toll-like receptor 7 variants with life-threatening COVID-19 disease in males

Chiara Fallerini; Sergio Daga; Stefania Mantovani; Elisa Benetti; Aurora Pujol; Nicola Picchiotti; Agatha Schluter; Laura Planas-Serra; Jesus Troya; Margherita Baldassarri; Francesca Fava; Serena Ludovisi; Francesco Castelli; Maria Eugenia Quiros-Roldan; Massimo Vaghi; Stefano Rusconi; Matteo Siano; Maria Bandini; Simone Furini; Francesca Mari; - GEN-COVID Multicenter Study; Alessandra Renieri; Mario U Mondelli; Elisa Frullanti.

Preprint en Inglés | PREPRINT-MEDRXIV | ID: ppmedrxiv-20234237

7.

Employing a Systematic Approach to Biobanking and Analyzing Genetic and Clinical Data for Advancing COVID-19 Research

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; - GEN-COVID Multicenter Study; Alessandra Renieri; Francesca Mari; Elisa Frullanti.

Preprint en Inglés | PREPRINT-MEDRXIV | ID: ppmedrxiv-20161307

8.

Clinical and molecular characterization of COVID-19 hospitalized patients

Elisa Benetti; Annarita Giliberti; Arianna Emiliozzi; Floriana Velentino; Laura Bergantini; Chiara Fallerini; Federico Anedda; Sara Amitrano; Edoardo Conticini; Rossella Tita; Miriana DAlessandro; Francesca Fava; Simona Marcantonio; Margherita Baldassarri; Mirella Bruttini; Maria Antonietta Mazzei; Francesca Montagnani; Marco Mandala; Elena Bargagli; Simone Furini; - COVID-19 MULTICENTER STUDY; Alessandra Renieri; Francesca Mari.

Preprint en Inglés | PREPRINT-MEDRXIV | ID: ppmedrxiv-20108845

9.

ACE2 variants underlie interindividual variability and susceptibility to COVID-19 in Italian population

Elisa Benetti; Rossella Tita; Ottavia Spiga; Andrea Ciolfi; Giovanni Birolo; Alessandro Bruselles; Gabriella Doddato; Annarita Giliberti; Cterina Marconi; Francesco Musacchia; Tommaso Pippucci; Annalaura Torella; Alfonso Trezza; Floriana Valentino; Mrgherita Baldassarri; Alfredo Brusco; Rosanna Asselta; Bruttini Mirella; Simone Furini; Marco Seri; Vincenzo Nigro; Giuseppe Matullo; Marco Tartaglia; Francesca Mari; Alessandra Renieri; Annamaria Pinto.

Preprint en Inglés | PREPRINT-MEDRXIV | ID: ppmedrxiv-20047977

10.

The polymorphism L412F in TLR3 inhibits autophagy and is a marker of severe COVID-19 in males.

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 L. 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 Mondelli; - GEN-COVID Multicenter Study; Mario Chiariello; Alessandra Renieri; Ilaria Meloni.

Preprint en Inglés | PREPRINT-MEDRXIV | ID: ppmedrxiv-21254158

11.

Post-Mendelian genetic model in COVID-19

Nicola Picchiotti; Elisa Benetti; Chiara Fallerini; Sergio Daga; Margherita Baldassarri; Francesca Fava; Kristina Zguro; Floriana Valentino; Gabriella Doddato; Annarita Giliberti; Rossella Tita; Sara Amitrano; Mirella Bruttini; Laura Di Sarno; Nicola Iuso; Diana Alaverdian; Giada Beligni; Susanna Croci; Ilaria Meloni; Anna Maria Pinto; Chiara Gabbi; Stefano Ceri; Antonio Esposito; Pietro Pinoli; Francis P. Crawley; Elisa Frullanti; Francesca Mari; - GEN-COVID Multicenter Study; Marco Gori; Alessandra Renieri; Simone Furini.

Preprint en Inglés | PREPRINT-MEDRXIV | ID: ppmedrxiv-21250593

12.

Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in males.

Margherita Baldassarri; Nicola Picchiotti; Francesca Fava; Chiara Fallerini; Elisa Benetti; Sergio Daga; Floriana Valentino; Gabriella Doddato; Simone Furini; Annarita Giliberti; Rossella Tita; Sara Amitrano; Mirella Bruttini; Susanna Croci; Ilaria Meloni; Anna Maria Pinto; Chiara Gabbi; Francesca Sciarra; Mary Anna Venneri; Marco Gori; Maurizio Sanarico; Francis P Crawley; Uberto Pagotto; Flaminia Fanelli; Marco Mezzullo; Elena Dominguez-Garrido; Laura Planas-Serra; Agatha Schluter; Roger Colobran; Pere Soler-Palacin; Pablo Lapunzina; Jair Tenorio; - Spanish Covid HGE; Aurora Pujol; Maria Grazia Castagna; Marco Marcelli; Andrea M Isidori; - GEN-COVID Multicenter Study; Alessandra Renieri; Elisa Frullanti; Francesca Mari.

Preprint en Inglés | PREPRINT-MEDRXIV | ID: ppmedrxiv-20225680

13.

Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.

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 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 Hultstrom; Kerstin U Ludwig; Eva C. Schulte; Erola Pairo-Castineira; John Kenneth Baillie; Axel Schmidt; Robert Frithiof; - WES/WGS working group within the HGI; - GenOMICC Consortium; - GEN-COVID Multicenter Study; Francesca Mari; Alessandra Renieri; Simone Furini.

Preprint en Inglés | PREPRINT-MEDRXIV | ID: ppmedrxiv-21262611

14.

Cryptic SARS-CoV2-spike-with-sugar interactions revealed by 'universal' saturation transfer analysis

Charles J. Buchanan; Ben Gaunt; Peter J. Harrison; Yun Yang; Jiwei Liu; Aziz Khan; Andrew M. Giltrap; Audrey Le Bas; Philip N. Ward; Kapil Gupta; Maud Dumoux; Sergio Daga; Nicola Picchiotti; Margherita Baldassarri; Elisa Benetti; Chiara Fallerini; Francesca Fava; Annarita Giliberti; Panagiotis I. Koukos; Abirami Lakshminarayanan; Xiaochao Xue; Georgios Papadakis; Lachlan P. Deimel; Virginia Casablancas-Antras; Timothy D.W. Claridge; Alexandre M.J.J. Bonvin; Quentin J. Sattentau; Simone Furini; Marco Gori; Jiangdong Huo; Raymond J. Owens; Christian Schaffitzel; Imre Berger; Alessandra Renieri; - GEN-COVID Multicenter Study; James H. Naismith; Andrew Baldwin; Benjamin G. Davis.

Preprint en Inglés | PREPRINT-BIORXIV | ID: ppbiorxiv-439284

15.

Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality

Tomoko Nakanishi; Sara Pigazzini; Frauke Degenhardt; Mattia Cordioli; Guillaume Butler-Laporte; Douglas Maya-Miles; Beatriz Nafr_a-Jim_nez; Youssef Bouysran; Mari Niemi; Adriana Palom; David Ellinghaus; Atlas Khan; Manuel Mart_nez-Bueno; Selina Rolker; Sara Amitano; Luisa Roade; - FinnGen; - The COVID-19 Host Genetics Initiative; Francesca Fava; Christoph D. Spinner; Daniele Prati; David Bernardo; Federico Garcia; Gilles Darcis; Israel Fern_ndez-Cadenas; Jan Cato Holter; Jesus Banales; Robert Frithiof; Krzysztof Kiryluk; Stefano Duga; Rosanna Asselta; Alexandre C. Pereira; Manuel Romero-G_mez; Luis Bujanda; Johannes R. Hov; Isabelle Migeotte; Alessandra Renieri; Anna M. Planas; Kerstin U. Ludwig; Maria Buti; Souad Rahmouni; Marta E. Alarc_n-Riquelme; Eva C. Schulte; Andre Franke; Tom H. Karlsen; Luca Valenti; Hugo Zeberg; J. Brent Richards; Andrea Ganna.

Preprint en Inglés | PREPRINT-MEDRXIV | ID: ppmedrxiv-21252875

16.

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

Guillaume Butler-Laporte; Gundula Povysil; Jack A Kosmicki; Elizabeth T Cirulli; Theodore Drivas; Simone Furini; Chadi Saad; Axel Schmidt; Pawel Olszewski; Urszula Korotko; Mathieu Quinodoz; Elifnaz Celik; Kousik Kundu; Klaudia Walter; Junghyung Jung; Amy D Stockwell; Laura G Sloofman; Daniel M Jordan; Ryan C Thompson; Diane Del Valle Del Valle; Nicole Simons Simons; Esther Cheng Cheng; Robert Sebra Sebra; Eric E Schadt; Seunghee Schulze-Kim Shulze-Kim; Sacha Gnjatic Gnjatic; Miriam Merad Merad; Joseph D Buxbaum; Noam D Beckmann; Alexander W Charney; Bartlomiej Przychodzen; Timothy 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 Gomez-Carballa; Irene Rivero-Calle; Federico Martinon-Torres; Andrea Ganna; Konrad J Karczewski; Kumar Veerapen; Mathieu Bourgey; Guillaume Bourque; Robert JM Eveleigh; Vincenzo Forgetta; David Morrison; David Langlais; Mark Lathrop; Vincent Mooser; Tomoko Nakanishi; Robert Frithiof; Michael Hultstrom; 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 Arab; Saleh A Alqahtan; Fawz S Al Harthi; Amal Almutairi; Fatima Alqubaishi; Sarah Alotaibi; Albandari Binowayn; Ebtehal A Alsolm; Hadeel El Bardisy; Mohammad Fawzy; - COVID-19 Host Genetics Initiative; - DeCOI Host Genetics Group; - GEN-COVID Multicenter Study (Italy); - Mount Sinai Clinical Intelligence Center; - GEN-COVID consortium (Spain); - GenOMICC Consortium; - Japan COVID-19 Task Force; - Regeneron Genetics Center; Daniel H Geschwind; Stephanie Arteaga; Alexis Stephens; Manish J Butte; Paul C Boutros; Takafumi N Yamaguchi; Shu Tao; Stefan Eng; Timothy Sanders; Paul J Tung; Michael E Broudy; Yu Pan; Alfredo Gonzalez; Nikhil Chavan; Ruth Johnson; Bogdan Pasaniuc; Brian Yaspan; Sandra Smieszek; Carlo Rivolta; Stephanie Bibert; Pierre-Yves Bochud; Maciej Dabrowski; Pawel Zawadzki; Mateusz Sypniewski; Elzbieta Kaja; Pajaree Chariyavilaskul; Voraphoj Nilaratanakul; Nattiya Hirankarn; Vorasuk Shotelersuk; Monnat Pongpanich; Chureerat Phokaew; Wanna Chetruengchai; Katsuhi 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 AR Ferreira; J Brent Richards.

Preprint en Inglés | PREPRINT-MEDRXIV | ID: ppmedrxiv-22273040

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