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2. Stratified analyses refine association between TLR7 rare variants and severe COVID-19
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Rimoldi, Valeria, Paraboschi, Elvezia M., Bandera, Alessandra, Peyvandi, Flora, Grasselli, Giacomo, Blasi, Francesco, Malvestiti, Francesco, Pelusi, Serena, Bianco, Cristiana, Miano, Lorenzo, Lombardi, Angela, Invernizzi, Pietro, Gerussi, Alessio, Citerio, Giuseppe, Biondi, Andrea, Valsecchi, Maria Grazia, Cazzaniga, Marina Elena, Foti, Giuseppe, Beretta, Ilaria, D'Angiò, Mariella, Bettini, Laura Rachele, Farré, Xavier, Iraola-Guzmán, Susana, Kogevinas, Manolis, Castaño-Vinyals, Gemma, Garcia-Etxebarria, Koldo, Nafria, Beatriz, D'Amato, Mauro, Palom, Adriana, Begg, Colin, Clohisey, Sara, Hinds, Charles, Horby, Peter, Knight, Julian, Ling, Lowell, Maslove, David, McAuley, Danny, Millar, Johnny, Montgomery, Hugh, Nichol, Alistair, Openshaw, Peter J.M., Pereira, Alexandre C., Ponting, Chris P., Rowan, Kathy, Semple, Malcolm G., Shankar-Hari, Manu, Summers, Charlotte, Walsh, Timothy, Baillie, J. 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Neus, Jones, Tim Owen, Lim, Rosario, Marotti, Martina, Ostermann, Marlies, Whitton, Christopher, Alldis, Zoe, Astin-Chamberlain, Raine, Bibi, Fatima, Biddle, Jack, Blow, Sarah, Bolton, Matthew, Borra, Catherine, Bowles, Ruth, Burton, Maudrian, Choudhury, Yasmin, Collier, David, Cox, Amber, Easthope, Amy, Ebano, Patrizia, Fotiadis, Stavros, Gurasashvili, Jana, Halls, Rosslyn, Hartridge, Pippa, Kallon, Delordson, Kassam, Jamila, Lancoma-Malcolm, Ivone, Matharu, Maninderpal, May, Peter, Mitchelmore, Oliver, Newman, Tabitha, Patel, Mital, Pheby, Jane, Pinzuti, Irene, Prime, Zoe, Prysyazhna, Oleksandra, Shiel, Julian, Taylor, Melanie, Tierney, Carey, Wood, Suzanne, Zak, Anne, Zongo, Olivier, Bonner, Stephen, Hugill, Keith, Jones, Jessica, Liggett, Steven, Headlam, Evie, Bandla, Nageswar, Gellamucho, Minnie, Davies, Michelle, Thompson, Christopher, Abdelrazik, Marwa, Bakthavatsalam, Dhanalakshmi, Elhassan, Munzir, Ganesan, Arunkumar, Haldeos, Anne, Moreno-Cuesta, Jeronimo, Purohit, Dharam, 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Martindale, Tim, Meadows, Emma, Raynard, Dana, Thirlwall, Yvette, Helm, David, Margalef, Jordi, Criste, Kristine, Cusack, Rebecca, Golder, Kim, Golding, Hannah, Jones, Oliver, Leggett, Samantha, Male, Michelle, Marani, Martyna, Prager, Kirsty, Williams, Toran, Roberts, Belinda, Salmon, Karen, Anderson, Peter, Archer, Katie, Austin, Karen, Davis, Caroline, Durie, Alison, Kelsall, Olivia, Thrush, Jessica, Vigurs, Charlie, Wild, Laura, Wood, Hannah-Louise, Tranter, Helen, Harrison, Alison, Cowley, Nicholas, McAlindon, Michael, Burtenshaw, Andrew, Digby, Stephen, Low, Emma, Morgan, Aled, Cother, Naiara, Rankin, Tobias, Clayton, Sarah, McCurdy, Alex, Ahmed, Cecilia, Baines, Balvinder, Clamp, Sarah, Colley, Julie, Haq, Risna, Hayes, Anne, Hulme, Jonathan, Hussain, Samia, Joseph, Sibet, Kumar, Rita, Maqsood, Zahira, Purewal, Manjit, Benham, Leonie, Bradshaw, Zena, Brown, Joanna, Caswell, Melanie, Cupitt, Jason, Melling, Sarah, Preston, Stephen, Slawson, Nicola, Stoddard, Emma, Warden, Scott, 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Sarah, Wakinshaw, Fiona, Rogerson, Kimberley, Jarmain, Jordan, Parker, Robert, Reddy, Amie, Turner-Bone, Ian, Wilding, Laura, Harding, Peter, Abernathy, Caroline, Foster, Louise, Gratrix, Andrew, Martinson, Vicky, Parkinson, Priyai, Stones, Elizabeth, Carbral-Ortega, Llucia, Bercades, Georgia, Brealey, David, Hass, Ingrid, MacCallum, Niall, Martir, Gladys, Raith, Eamon, Reyes, Anna, Smyth, Deborah, Zitter, Letizia, Benyon, Sarah, Marriott, Suzie, Park, Linda, Keenan, Samantha, Gordon, Elizabeth, Quinn, Helen, Baines, Kizzy, Cagova, Lenka, Fofano, Adama, Garner, Lucie, Holcombe, Helen, Mepham, Sue, Mitchell, Alice Michael, Mwaura, Lucy, Praman, Krithivasan, Vuylsteke, Alain, Zamikula, Julie, Purewal, Bally, Rivers, Vanessa, Bell, Stephanie, Blakemore, Hayley, Borislavova, Borislava, Faulkner, Beverley, Gendall, Emma, Goff, Elizabeth, Hayes, Kati, Thomas, Matt, Worner, Ruth, Smith, Kerry, Stephens, Deanna, Mew, Louise, Mwaura, Esther, Stewart, Richard, Williams, Felicity, Wren, Lynn, Sutherland, Sara-Beth, Bevan, Emily, Martin, Jane, Trodd, Dawn, Watson, Geoff, Brown, Caroline Wrey, Collins, Amy, Khaliq, Waqas, Gude, Estefania Treus, Akinkugbe, Olugbenga, Bamford, Alasdair, Beech, Emily, Belfield, Holly, Bell, Michael, Davies, Charlene, Jones, Gareth A.L., McHugh, Tara, Meghari, Hamza, O'Neill, Lauran, Peters, Mark J., Ray, Samiran, Tomas, Ana Luisa, Burn, Iona, Hambrook, Geraldine, Manso, Katarina, Penn, Ruth, Shanmugasundaram, Pradeep, Tebbutt, Julie, Thornton, Danielle, Cole, Jade, Davies, Rhys, Duffin, Donna, Hill, Helen, Player, Ben, Thomas, Emma, Williams, Angharad, Griffin, Denise, Muchenje, Nycola, Mupudzi, Mcdonald, Partridge, Richard, Conyngham, Jo-Anna, Thomas, Rachel, Wright, Mary, Corral, Maria Alvarez, Jacob, Reni, Jones, Cathy, Denmade, Craig, Beavis, Sarah, Dale, Katie, Gascoyne, Rachel, Hawes, Joanne, Pritchard, Kelly, Stevenson, Lesley, Whileman, Amanda, Doble, Patricia, Hutter, Joanne, Pawley, Corinne, Shovelton, Charmaine, Vaida, Marius, Butcher, Deborah, O'Sullivan, Susie, Butterworth-Cowin, Nicola, Ahmad, Norfaizan, Barker, Joann, Bauchmuller, Kris, Bird, Sarah, Cawthron, Kay, Harrington, Kate, Jackson, Yvonne, Kibutu, Faith, Lenagh, Becky, Masuko, Shamiso, Mills, Gary H., Raithatha, Ajay, Wiles, Matthew, Willson, Jayne, Newell, Helen, Lye, Alison, Nwafor, Lorenza, Jarman, Claire, Rowland-Jones, Sarah, Foote, David, Cole, Joby, Thompson, Roger, Watson, James, Hesseldon, Lisa, Macharia, Irene, Chetam, Luke, Smith, Jacqui, Ford, Amber, Anderson, Samantha, Birchall, Kathryn, Housley, Kay, Walker, Sara, Milner, Leanne, Hanratty, Helena, Trower, Helen, Phillips, Patrick, Oxspring, Simon, Donne, Ben, Jardine, Catherine, Williams, Dewi, Hay, Alasdair, Flanagan, Rebecca, Hughes, Gareth, Latham, Scott, McKenna, Emma, Anderson, Jennifer, Hull, Robert, Rhead, Kat, Cruz, Carina, Pattison, Natalie, Charnock, Rob, McFarland, Denise, Cosgrove, Denise, Ahmed, Ashar, Morris, Anna, Jakkula, Srinivas, Ali, Asifa, Brady, Megan, Dale, Sam, Dance, Annalisa, Gledhill, Lisa, Greig, Jill, Hanson, Kathryn, Holdroyd, Kelly, Home, Marie, Kelly, Diane, Kitson, Ross, Matapure, Lear, Melia, Deborah, Mellor, Samantha, Nortcliffe, Tonicha, Pinnell, Jez, Robinson, Matthew, Shaw, Lisa, Shaw, Ryan, Thomis, Lesley, Wilson, Alison, Wood, Tracy, Bayo, Lee-Ann, Merwaha, Ekta, Ishaq, Tahira, Hanley, Sarah, Hibbert, Meg, Tetla, Dariusz, Woodford, Chrsitopher, Durga, Latha, Kennard-Holden, Gareth, Branney, Debbie, Frankham, Jordan, Pitts, Sally, White, Nigel, Laha, Shondipon, Verlander, Mark, Williams, Alexandra, Altabaibeh, Abdelhakim, Alvaro, Ana, Gilbert, Kayleigh, Ma, Louise, Mostoles, Loreta, Parmar, Chetan, Simpson, Kathryn, Jetha, Champa, Booker, Lauren, Pratley, Anezka, Adams, Colene, Agasou, Anita, Arden, Tracie, Bowes, Amy, Boyle, Pauline, Beekes, Mandy, Button, Heather, Capps, Nigel, Carnahan, Mandy, Carter, Anne, Childs, Danielle, Donaldson, Denise, Hard, Kelly, Hurford, Fran, Hussain, Yasmin, Javaid, Ayesha, Jones, James, Jose, Sanal, Leigh, Michael, Martin, Terry, Millward, Helen, Motherwell, Nichola, Rikunenko, Rachel, Stickley, Jo, Summers, Julie, Ting, Louise, Tivenan, Helen, Tonks, Louise, Wilcox, Rebecca, Holland, Maureen, Keenan, Natalie, Lyons, Marc, Wassall, Helen, Marsh, Chris, Mahenthran, Mervin, Carter, Emma, Kong, Thomas, Blackman, Helen, Creagh-Brown, Ben, Donlon, Sinead, Michalak-Glinska, Natalia, Mtuwa, Sheila, Pristopan, Veronika, Salberg, Armorel, Smith, Eleanor, Stone, Sarah, Piercy, Charles, Verula, Jerik, Burda, Dorota, Montaser, Rugia, Harden, Lesley, Mayangao, Irving, Marriott, Cheryl, Bradley, Paul, Harris, Celia, Anderson, Susan, Andrews, Eleanor, Birch, Janine, Collins, Emma, Hammerton, Kate, O'Leary, Ryan, Clark, Michele, Purvis, Sarah, Barber, Russell, Hewitt, Claire, Hilldrith, Annette, Jackson-Lawrence, Karen, Shepardson, Sarah, Wills, Maryanne, Butler, Susan, Tavares, Silvia, Cunningham, Amy, Hindale, Julia, Arif, Sarwat, Bean, Sarah, Burt, Karen, Spivey, Michael, Demetriou, Carrie, Eckbad, Charlotte, Hierons, Sarah, Howie, Lucy, Mitchard, Sarah, Ramos, Lidia, Serrano-Ruiz, Alfredo, White, Katie, Kelly, Fiona, Cristiano, Daniele, Dormand, Natalie, Farzad, Zohreh, Gummadi, Mahitha, Liyanage, Kamal, Patel, Brijesh, Salmi, Sara, Sloane, Geraldine, Thwaites, Vicky, Varghese, Mathew, Zborowski, Anelise C., Allan, John, Geary, Tim, Houston, Gordon, Meikle, Alistair, O'Brien, Peter, Forsey, Miranda, Kaliappan, Agilan, Nicholson, Anne, Riches, Joanne, Vertue, Mark, Allan, Elizabeth, Darlington, Kate, Davies, Ffyon, Easton, Jack, Kumar, Sumit, Lean, Richard, Menzies, Daniel, Pugh, Richard, Qiu, Xinyi, Davies, Llinos, Williams, Hannah, Scanlon, Jeremy, Davies, Gwyneth, Mackay, Callum, Lewis, Joannne, Rees, Stephanie, Oblak, Metod, Popescu, Monica, Thankachen, Mini, Higham, Andrew, Simpson, Kerry, Craig, Jayne, Baruah, Rosie, Morris, Sheila, Ferguson, Susie, Shepherd, Amy, Prockter Moore, Luke Stephen, Vizcaychipi, Marcela Paola, Gomes de Almeida Martins, Laura, Carungcong, Jaime, Mohamed Ali, Inthakab Ali, Beaumont, Karen, Blunt, Mark, Coton, Zoe, Curgenven, Hollie, Elsaadany, Mohamed, Fernandes, Kay, Ally, Sameena Mohamed, Rangarajan, Harini, Sarathy, Varun, Selvanayagam, Sivarupan, Vedage, Dave, White, Matthew, Gill, Mandy, Paul, Paul, Ratnam, Valli, Shelton, Sarah, Wynter, Inez, Carmody, Siobhain, Page, Valerie Joan, Beith, Claire Marie, Black, Karen, Clements, Suzanne, Morrison, Alan, Strachan, Dominic, Taylor, Margaret, Clarkson, Michelle, D'Sylva, Stuart, Norman, Kathryn, Auld, Fiona, Donnachie, Joanne, Edmond, Ian, Prentice, Lynn, Runciman, Nikole, Salutous, Dario, Symon, Lesley, Todd, Anne, Turner, Patricia, Short, Abigail, Sweeney, Laura, Murdoch, Euan, Senaratne, Dhaneesha, Hill, Michaela, Kannan, Thogulava, Laura, Wild, Crawley, Rikki, Crew, Abigail, Cunningham, Mishell, Daniels, Allison, Harrison, Laura, Hope, Susan, Inweregbu, Ken, Jones, Sian, Lancaster, Nicola, Matthews, Jamie, Nicholson, Alice, Wray, Gemma, Langton, Helen, Prout, Rachel, Watters, Malcolm, Novis, Catherine, Barron, Anthony, Collins, Ciara, Kaul, Sundeep, Passmore, Heather, Prendergast, Claire, Reed, Anna, Rogers, Paula, Shokkar, Rajvinder, Woodruff, Meriel, Middleton, Hayley, Polgar, Oliver, Nolan, Claire, Mahay, Kanta, Collier, Dawn, Hormis, Anil, Maynard, Victoria, Graham, Cheryl, Walker, Rachel, Knights, Ellen, Price, Alicia, Thomas, Alice, Thorpe, Chris, Behan, Teresa, Burnett, Caroline, Hatton, Jonathan, Heeney, Elaine, Mitra, Atideb, Newton, Maria, Pollard, Rachel, Stead, Rachael, Amin, Vishal, Anastasescu, Elena, Anumakonda, Vikram, Karthik, Komala, Kausar, Rizwana, Reid, Karen, Smith, Jacqueline, Imeson-Wood, Janet, Skinner, Denise, Gaylard, Jane, Mullan, Dee, Newman, Julie, Brown, Alison, Crickmore, Vikki, Debreceni, Gabor, Wilkins, Joy, Nicol, Liz, Reece-Anthony, Rosie, Birt, Mark, Ghosh, Alison, Williams, Emma, Allen, Louise, Beranova, Eva, Crisp, Nikki, Deery, Joanne, Hazelton, Tracy, Knight, Alicia, Price, Carly, Tilbey, Sorrell, Turki, Salah, Turney, Sharon, Cooper, Joshua, Finch, Cheryl, Liderth, Sarah, Quinn, Alison, Waddington, Natalia, Coventry, Tina, Fowler, Susan, MacMahon, Michael, McGregor, Amanda, Cowley, Anne, Highgate, Judith, Gregory, Jane, O'Connell, Susan, Smith, Tim, Barberis, Luigi, Gopal, Shameer, Harris, Nichola, Lake, Victoria, Metherell, Stella, Radford, Elizabeth, Daniel, Amelia, Finn, Joanne, Saha, Rajnish, White, Nikki, Donnison, Phil, Trim, Fiona, Eapen, Beena, Birch, Jenny, Bough, Laura, Goodsell, Josie, Tutton, Rebecca, Williams, Patricia, Williams, Sarah, Winter-Goodwin, Barbara, Nichol, Ailstair, Brickell, Kathy, Smyth, Michelle, Murphy, Lorna, Coetzee, Samantha, Gales, Alistair, Otahal, Igor, Raj, Meena, Sell, Craig, Hilltout, Paula, Evitts, Jayne, Tyler, Amanda, Waldron, Joanne, Beesley, Kate, Board, Sarah, Kubisz-Pudelko, Agnieszka, Lewis, Alison, Perry, Jess, Pippard, Lucy, Wood, Di, Buckley, Clare, Barry, Peter, Flint, Neil, Rekha, Patel, Hales, Dawn, Bunni, Lara, Jennings, Claire, Latif, Monica, Marshall, Rebecca, Subramanian, Gayathri, McGuigan, Peter J., Wasson, Christopher, Finn, Stephanie, Green, Jackie, Collins, Erin, King, Bernadette, Campbell, Andy, Smuts, Sara, Duffield, Joseph, Smith, Oliver, Mallon, Lewis, Claire, Watkins, Botfield, Liam, Butler, Joanna, Dexter, Catherine, Fletcher, Jo, Garg, Atul, Kuravi, Aditya, Ranga, Poonam, Virgilio, Emma, Belagodu, Zakaula, Fuller, Bridget, Gherman, Anca, Olufuwa, Olumide, Paramsothy, Remi, Stuart, Carmel, Oakley, Naomi, Kamundi, Charlotte, Tyl, David, Collins, Katy, Silva, Pedro, Taylor, June, King, Laura, Coates, Charlotte, Crowley, Maria, Wakefield, Phillipa, Beadle, Jane, Johnson, Laura, Sargeant, Janet, Anderson, Madeleine, Brady, Ailbhe, Chan, Rebekah, Little, Jeff, McIvor, Shane, Prady, Helena, Whittle, Helen, Mathew, Bijoy, Attwood, Ben, Parsons, Penny, Ward, Geraldine, Bremmer, Pamela, Joe, West, Tracy, Baird, Jim, Ruddy, Davies, Ellie, Sathe, Sonia, Dennis, Catherine, McGregor, Alastair, Parris, Victoria, Srikaran, Sinduya, Sukha, Anisha, Clarke, Noreen, Whiteside, Jonathan, Mascarenhas, Mairi, Donaldson, Avril, Matheson, Joanna, Barrett, Fiona, O'Hara, Marianne, Okeefe, Laura, Bradley, Clare, Eastgate-Jackson, Christine, Filipe, Helder, Martin, Daniel, Maharajh, Amitaa, Garcia, Sara Mingo, Pakou, Glykeria, De Neef, Mark, Dent, Kathy, Horsley, Elizabeth, Akhtar, Muhmmad Nauman, Pearson, Sandra, Potoczna, Dorota, Spencer, Sue, Clapham, Melanie, Harper, Rosemary, Poultney, Una, Rice, Polly, Mutch, Rachel, Armstrong, Lisa, Bates, Hayley, Dooks, Emma, Farquhar, Fiona, Hairsine, Brigid, McParland, Chantal, Packham, Sophie, Bi, Rehana, Scholefield, Barney, Ashton, Lydia, George, Linsha, Twiss, Sophie, Wright, David, Chablani, Manish, Kirkby, Amy, Netherton, Kimberley, Davies, Kim, O'Brien, Linda, Omar, Zohra, Perkins, Emma, Lewis, Tracy, Sutherland, Isobel, Burns, Karen, Ben Chandler, Dr, Elliott, Kerry, Mallinson, Janine, Turnbull, Alison, Gondo, Prisca, Hadebe, Bernard, Kayani, Abdul, Masunda, Bridgett, Anderson, Taya, Hawcutt, Dan, O'Malley, Laura, Rad, Laura, Rogers, Naomi, Saunderson, Paula, Allison, Kathryn Sian, Afolabi, Deborah, Whitbread, Jennifer, Jones, Dawn, Dore, Rachael, Halkes, Matthew, Mercer, Pauline, Thornton, Lorraine, Dawson, Joy, Garrioch, Sweyn, Tolson, Melanie, Aldridge, Jonathan, Kapoor, Ritoo, Loader, David, Castle, Karen, Humphreys, Sally, Tampsett, Ruth, Mackintosh, Katherine, Ayers, Amanda, Harrison, Wendy, North, Julie, Allibone, Suzanne, Genetu, Roman, Kasipandian, Vidya, Patel, Amit, Mac, Ainhi, Murphy, Anthony, Mahjoob, Parisa, Nazari, Roonak, Worsley, Lucy, Fagan, Andrew, Bemand, Thomas, Black, Ethel, Dela Rosa, Arnold, Howle, Ryan, Jhanji, Shaman, Baikady, Ravishankar Rao, Tatham, Kate Colette, Thomas, Benjamin, Bell, Dina, Boyle, Rosalind, Douglas, Katie, Glass, Lynn, Lee, Emma, Lennon, Liz, Rattray, Austin, Taylor, Abigail, Hughes, Rachel Anne, Thomas, Helen, Rees, Alun, Duskova, Michaela, Phipps, Janet, Brooks, Suzanne, Edwards, Michelle, Quaid, Sheena, Watson, Ekaterina, Brayne, Adam, Fisher, Emma, Hunt, Jane, Jackson, Peter, Kaye, Duncan, Love, Nicholas, Parkin, Juliet, Tuckey, Victoria, Van Koutrik, Lynne, Carter, Sasha, Andrew, Benedict, Findlay, Louise, Adams, Katie, Service, Jen, Williams, Alison, Cheyne, Claire, Saunderson, Anne, Moultrie, Sam, Odam, Miranda, Hall, Kathryn, Mapfunde, Isheunesu, Willis, Charlotte, Lyon, Alex, Sri-Chandana, Chunda, Scherewode, Joslan, Stephenson, Lorraine, Marsh, Sarah, Hardy, John, Houlden, Henry, Moncur, Eleanor, Tariq, Ambreen, Tucci, Arianna, Hobrok, Maria, Loosley, Ronda, McGuinness, Heather, Tench, Helen, Wolf-Roberts, Rebecca, Irvine, Val, Shelley, Benjamin, Gorman, Claire, Gupta, Abhinav, Timlick, Elizabeth, Brady, Rebecca, Milligan, Barry, Bellini, Arianna, Bryant, Jade, Mayer, Anton, Pickard, Amy, Roe, Nicholas, Sowter, Jason, Howlett, Alex, Fidler, Katy, Tagliavini, Emma, Donnelly, Kevin, Boos, Jannik, van der Made, Caspar I., Ramakrishnan, Gayatri, Coughlan, Eamon, Asselta, Rosanna, Löscher, Britt-Sabina, Valenti, Luca V.C., de Cid, Rafael, Bujanda, Luis, Julià, Antonio, Pairo-Castineira, Erola, May, Sandra, Zametica, Berina, Heggemann, Julia, Albillos, Agustín, Banales, Jesus M., Barretina, Jordi, Blay, Natalia, Bonfanti, Paolo, Buti, Maria, Fernandez, Javier, Marsal, Sara, Prati, Daniele, Ronzoni, Luisa, Sacchi, Nicoletta, Schultze, Joachim L., Riess, Olaf, Franke, Andre, Rawlik, Konrad, Ellinghaus, David, Hoischen, Alexander, Schmidt, Axel, and Ludwig, Kerstin U.
- Published
- 2024
- Full Text
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3. Contributors
- Author
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Agarwal, Kosh, primary, Armandi, Angelo, additional, Berná, Genoveva, additional, Boon-Bee Goh, George, additional, Bugianesi, Elisabetta, additional, Chan, Esther W., additional, Chan, Jacky C.H., additional, Cheung, Ka Wang, additional, Choi, Won-Mook, additional, Choi, Jonggi, additional, Cornejo, Andrea, additional, Crowley, Claire, additional, Dan, Yock Young, additional, Degré, Delphine, additional, Deltenre, Pierre, additional, Falade-Nwulia, Oluwaseun, additional, Fan, Jian-Gao, additional, Feng, Yi Bin, additional, Ferenci, Peter, additional, Fernández Gómez, Miguel, additional, Fromme, Malin, additional, Grønbæk, Lisbet, additional, Grønbæk, Henning, additional, Harisinghani, Mukesh, additional, Indolfi, Giuseppe, additional, Inoue, Takako, additional, Jang, Jeong Won, additional, Kew, Guan Sen, additional, Kim-Jun Teh, Kevin, additional, Kim, Min, additional, Kjær, Mikkel Breinholt, additional, Kornerup, Linda Skibsted, additional, Lara Romero, Carmen, additional, Lee, Sung Won, additional, Lee, Soon Kyu, additional, Lim, Young-Suk, additional, Liu, Chieh, additional, Liu, Chun-Jen, additional, Lok, James, additional, López Bermudo, Lucía, additional, Mak, Lung-Yi, additional, Méndez-Sánchez, Nahum, additional, Moreno, Christophe, additional, Muthiah, Mark, additional, Nam, Heechul, additional, Nartey, Yvonne A., additional, Nepal, Pankaj, additional, Nguyen, Mindie H., additional, Nicastro, Emanuele, additional, Ogawa, Eiichi, additional, Pawlotsky, Jean-Michel, additional, Pelusi, Serena, additional, Pik-Eu Chang, Jason, additional, Plauth, Mathias, additional, Romero-Gómez, Manuel, additional, Ronzoni, Luisa, additional, Seto, Mimi Tin-Yan, additional, Shi, Yi-Wen, additional, Shih, Yi-Fen, additional, Sridhar, Siddharth, additional, Stockdale, Alexander J., additional, Strnad, Pavel, additional, Tanaka, Yasuhito, additional, Teschke MD, Rolf, additional, Tucker, Joseph D., additional, Valenti, Luca, additional, Veloz, Maria Fernanda Guerra, additional, Yuen, Man-Fung, additional, Zhang, Cheng, additional, Zhao, Jiaxi, additional, and Zhou, Kali, additional
- Published
- 2023
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4. Hereditary hemochromatosis
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Valenti, Luca, primary, Pelusi, Serena, additional, and Ronzoni, Luisa, additional
- Published
- 2023
- Full Text
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5. Rare ATG7 genetic variants predispose patients to severe fatty liver disease
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Borroni, Vittorio, Liguori, Antonio, Ronzoni, Luisa, Cherubini, Alessandro, Santoro, Luigi, Tomasi, Melissa, Lombardi, Angela, Ostadreza, Mahnoosh, Casirati, Elia, Marini, Ilaria, Maier, Silvia, Rosso, Chiara, Baroni, Gianluca Svegliati, Santaniello, Carlo, Dallio, Marcello, Baselli, Guido A., Jamialahmadi, Oveis, Pelusi, Serena, Ciociola, Ester, Malvestiti, Francesco, Saracino, Marco, Dongiovanni, Paola, Maggioni, Marco, Bianco, Cristiana, Tavaglione, Federica, Cespiati, Annalisa, Mancina, Rosellina M., D’Ambrosio, Roberta, Vaira, Valentina, Petta, Salvatore, Miele, Luca, Vespasiani-Gentilucci, Umberto, Federico, Alessandro, Pihlajamaki, Jussi, Bugianesi, Elisabetta, Fracanzani, Anna L., Reeves, Helen L., Soardo, Giorgio, Prati, Daniele, Romeo, Stefano, and Valenti, Luca VC.
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- 2022
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6. Ultrasound 2-D and 3-D diagnosis of Rubinstein–Taybi syndrome in a 21-week-old fetus
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D’Ambrosi, Francesco, Ronzoni, Luisa, Villa, Roberta, De Marinis, Stefano, Cetera, Giulia Emily, Soldavini, Chiara Maria, and Ferrazzi, Enrico
- Published
- 2022
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7. TOP-301 Impact of clonal hematopoiesis of indeterminate potential on hepatocellular carcinoma in steatotic liver disease
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Pelusi, Serena, primary, Marchetti, Alfredo, additional, Malvestiti, Francesco, additional, Ricchiuti, Antony, additional, Ronzoni, Luisa, additional, Lionetti, Marta, additional, Moretti, Vittoria, additional, Bugianesi, Elisabetta, additional, Miele, Luca, additional, Gentilucci, Umberto Vespasiani, additional, Dongiovanni, Paola, additional, Federico, Alessandro, additional, Soardo, Giorgio, additional, D'Ambrosio, Roberta, additional, Reeves, Helen Louise, additional, La Mura, Vincenzo, additional, Prati, Daniele, additional, Bolli, Niccolò, additional, and Valenti, Luca, additional
- Published
- 2024
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8. TOP-144-YI Heterozygosity for rare Apolipoprotein B variants predispose to severe metabolic associated steatotic liver disease
- Author
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Mureddu, Matteo, primary, Pelusi, Serena, additional, Ronzoni, Luisa, additional, Malvestiti, Francesco, additional, Moretti, Vittoria, additional, Eigadeh, Hadi, additional, Soardo, Giorgio, additional, Federico, Alessandro, additional, Russo, Francesco Paolo, additional, Fracanzani, Anna Ludovica, additional, Vespasiani-Gentilucci, Umberto, additional, Miele, Luca, additional, Bugianesi, Elisabetta, additional, D'Ambrosio, Roberta, additional, Petta, Salvatore, additional, Fraquelli, Mirella, additional, Prati, Daniele, additional, and Valenti, Luca, additional
- Published
- 2024
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9. Impact of clonal hematopoiesis of indeterminate potential on hepatocellular carcinoma in individuals with steatotic liver disease.
- Author
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Marchetti, Alfredo, Pelusi, Serena, Marella, Alessio, Malvestiti, Francesco, Ricchiuti, Antony, Ronzoni, Luisa, Lionetti, Marta, Moretti, Vittoria, Bugianesi, Elisabetta, Miele, Luca, Vespasiani-Gentilucci, Umberto, Dongiovanni, Paola, Federico, Alessandro, Soardo, Giorgio, D'Ambrosio, Roberta, McCain, Misti V., Reeves, Helen L., La Mura, Vincenzo, Prati, Daniele, and Bolli, Niccolò
- Published
- 2024
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10. Low MBOAT7 expression, a genetic risk for MASH, promotes a pro-fibrotic pathway involving hepatocyte TAZ upregulation
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Moore, Mary P., primary, Wang, Xiaobo, additional, Kennelly, John Paul, additional, Shi, Hongxue, additional, Ishino, Yuki, additional, Kano, Kuniyuki, additional, Aoki, Junken, additional, Cherubini, Alessandro, additional, Ronzoni, Luisa, additional, Guo, Xiuqing, additional, Chalasani, Naga P., additional, Khalid, Shareef, additional, Saleheen, Danish, additional, Mitsche, Mathew A., additional, Rotter, Jerome I., additional, Yates, Katherine P., additional, Valenti, Luca, additional, Kono, Nozomu, additional, Tontonoz, Peter, additional, and Tabas, Ira, additional
- Published
- 2024
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11. ABCC2p.R393W variant contributes to Dubin-Johnson syndrome by targeting MRP2 to proteasome degradation
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Sun, Rong-Yue, primary, Chen, Yi-Ming, additional, Zhu, Mian-Mian, additional, Sun, Ji-an, additional, Wang, Hong-Wei, additional, Wu, Chen-Yu, additional, Zhu, Ting, additional, Gong, Yu-Jing, additional, Lu, Chao-Sheng, additional, Ronzoni, Luisa, additional, Valenti, Luca, additional, Zheng, Ming-Hua, additional, and Wang, Dan, additional
- Published
- 2024
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12. Stratified analyses refine association between TLR7 rare variants and severe COVID-19
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Boos, J, van der Made, C, Ramakrishnan, G, Coughlan, E, Asselta, R, Löscher, B, Valenti, L, de Cid, R, Bujanda, L, Julià, A, Pairo-Castineira, E, Baillie, J, May, S, Zametica, B, Heggemann, J, Albillos, A, Banales, J, Barretina, J, Blay, N, Bonfanti, P, Buti, M, Fernandez, J, Marsal, S, Prati, D, Ronzoni, L, Sacchi, N, Schultze, J, Riess, O, Franke, A, Rawlik, K, Ellinghaus, D, Hoischen, A, Schmidt, A, Ludwig, K, Boos, Jannik, van der Made, Caspar I, Ramakrishnan, Gayatri, Coughlan, Eamon, Asselta, Rosanna, Löscher, Britt-Sabina, Valenti, Luca V C, de Cid, Rafael, Bujanda, Luis, Julià, Antonio, Pairo-Castineira, Erola, Baillie, J Kenneth, May, Sandra, Zametica, Berina, Heggemann, Julia, Albillos, Agustín, Banales, Jesus M, Barretina, Jordi, Blay, Natalia, Bonfanti, Paolo, Buti, Maria, Fernandez, Javier, Marsal, Sara, Prati, Daniele, Ronzoni, Luisa, Sacchi, Nicoletta, Schultze, Joachim L, Riess, Olaf, Franke, Andre, Rawlik, Konrad, Ellinghaus, David, Hoischen, Alexander, Schmidt, Axel, Ludwig, Kerstin U, Boos, J, van der Made, C, Ramakrishnan, G, Coughlan, E, Asselta, R, Löscher, B, Valenti, L, de Cid, R, Bujanda, L, Julià, A, Pairo-Castineira, E, Baillie, J, May, S, Zametica, B, Heggemann, J, Albillos, A, Banales, J, Barretina, J, Blay, N, Bonfanti, P, Buti, M, Fernandez, J, Marsal, S, Prati, D, Ronzoni, L, Sacchi, N, Schultze, J, Riess, O, Franke, A, Rawlik, K, Ellinghaus, D, Hoischen, A, Schmidt, A, Ludwig, K, Boos, Jannik, van der Made, Caspar I, Ramakrishnan, Gayatri, Coughlan, Eamon, Asselta, Rosanna, Löscher, Britt-Sabina, Valenti, Luca V C, de Cid, Rafael, Bujanda, Luis, Julià, Antonio, Pairo-Castineira, Erola, Baillie, J Kenneth, May, Sandra, Zametica, Berina, Heggemann, Julia, Albillos, Agustín, Banales, Jesus M, Barretina, Jordi, Blay, Natalia, Bonfanti, Paolo, Buti, Maria, Fernandez, Javier, Marsal, Sara, Prati, Daniele, Ronzoni, Luisa, Sacchi, Nicoletta, Schultze, Joachim L, Riess, Olaf, Franke, Andre, Rawlik, Konrad, Ellinghaus, David, Hoischen, Alexander, Schmidt, Axel, and Ludwig, Kerstin U
- Abstract
Despite extensive global research into genetic predisposition for severe COVID-19, knowledge on the role of rare host genetic variants and their relation to other risk factors remains limited. Here, 52 genes with prior etiological evidence were sequenced in 1,772 severe COVID-19 cases and 5,347 population-based controls from Spain/Italy. Rare deleterious TLR7 variants were present in 2.4% of young (<60 years) cases with no reported clinical risk factors (n = 378), compared to 0.24% of controls (odds ratio [OR] = 12.3, p = 1.27 × 10−10). Incorporation of the results of either functional assays or protein modeling led to a pronounced increase in effect size (ORmax = 46.5, p = 1.74 × 10−15). Association signals for the X-chromosomal gene TLR7 were also detected in the female-only subgroup, suggesting the existence of additional mechanisms beyond X-linked recessive inheritance in males. Additionally, supporting evidence was generated for a contribution to severe COVID-19 of the previously implicated genes IFNAR2, IFIH1, and TBK1. Our results refine the genetic contribution of rare TLR7 variants to severe COVID-19 and strengthen evidence for the etiological relevance of genes in the interferon signaling pathway.
- Published
- 2024
13. Loss of TIM4-Dependent Efferocytosis in Kupffer Cells Promotes Liver Fibrosis in Nonalcoholic Steatohepatitis
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Shi, Hongxue, primary, Wang, Xiaobo, additional, Gerlach, Brennan, additional, Yurdagul, Arif, additional, Moore, Mary P., additional, Mirshahi, Faridoddin, additional, Ronzoni, Luisa, additional, Sanyal, Arun J., additional, Valenti, Luca, additional, Lin, Chyuan-Sheng, additional, and Tabas, Ira, additional
- Published
- 2024
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14. Predictors of controlled attenuation parameter in metabolic dysfunction
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Bianco, Cristiana, primary, Pelusi, Serena, additional, Margarita, Sara, additional, Tavaglione, Federica, additional, Jamialahmadi, Oveis, additional, Malvestiti, Francesco, additional, Periti, Giulia, additional, Rondena, Jessica, additional, Tomasi, Melissa, additional, Carpani, Rossana, additional, Ronzoni, Luisa, additional, Vidali, Matteo, additional, Ceriotti, Ferruccio, additional, Fraquelli, Mirella, additional, Vespasiani‐Gentilucci, Umberto, additional, Romeo, Stefano, additional, Prati, Daniele, additional, and Valenti, Luca, additional
- Published
- 2023
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15. Front Cover
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Shalaby, Sarah, primary, Ronzoni, Luisa, additional, Hernandez‐Gea, Virginia, additional, and Valenti, Luca, additional
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- 2023
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16. The genetics of portal hypertension: Recent developments and the road ahead
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Shalaby, Sarah, primary, Ronzoni, Luisa, additional, Hernandez‐Gea, Virginia, additional, and Valenti, Luca, additional
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- 2023
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- View/download PDF
17. 7p22.1 microduplication syndrome: Refinement of the critical region
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Ronzoni, Luisa, Grassi, Francesca Sofia, Pezzani, Lidia, Tucci, Arianna, Baccarin, Marco, Esposito, Susanna, and Milani, Donatella
- Published
- 2017
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18. Liver Involvement in Patients with Rare MBOAT7 Variants and Intellectual Disability: A Case Report and Literature Review
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Ronzoni, Luisa, primary, Mureddu, Matteo, additional, Malvestiti, Francesco, additional, Moretti, Vittoria, additional, Bianco, Cristiana, additional, Periti, Giulia, additional, Baldassarri, Margherita, additional, Ariani, Francesca, additional, Carrer, Anna, additional, Pelusi, Serena, additional, Renieri, Alessandra, additional, Prati, Daniele, additional, and Valenti, Luca, additional
- Published
- 2023
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19. A prospective multicenter study to examine the impact of acquired and genetic predictors on Hepatocellular carcinoma risk in patients with advanced NAFLD: first report
- Author
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Pelusi, Serena, primary, Bianco, Cristiana, additional, Ronzoni, Luisa, additional, Cherubini, Alessandro, additional, Marini, Ilaria, additional, Malvestiti, Francesco, additional, D’Ambrosio, Roberta, additional, Fracanzani, Anna Ludovica, additional, Cespiati, Annalisa, additional, Soardo, Giorgio, additional, Pivetta, Stephanie, additional, Miele, Luca, additional, Liguori, Antonio, additional, Bugianesi, Elisabetta, additional, Rosso, Chiara, additional, Petta, Salvatore, additional, Pennisi, Grazia, additional, Gentilucci, Umberto Vespasiani, additional, Tavaglione, Federica, additional, Federico, Alessandro, additional, Russo, Francesco Paolo, additional, Zanaga, Paola, additional, Masarone, Mario, additional, Prati, Daniele, additional, and Valenti, Luca, additional
- Published
- 2023
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20. High diagnostic uptake of a targeted panel sequencing in adult patients with chronic hereditary liver disorders
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Ronzoni, Luisa, primary, Marini, Ilaria, additional, Pelusi, Serena, additional, Golfetto, Federica, additional, Lombardi, Angela, additional, Rondena, Jessica, additional, Periti, Giulia, additional, Bianco, Cristiana, additional, Passignani, Giulia, additional, D’Ambrosio, Roberta, additional, Prati, Daniele, additional, and Valenti, Luca, additional
- Published
- 2023
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21. A functional interaction between hepatic estrogen receptor-α and PNPLA3 p.I148M inherited variant drives fatty liver disease susceptibility in women
- Author
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Cherubini, Alessandro, primary, Ostadreza, Mahnoosh, additional, Jamialahmadi, Oveis, additional, Pelusi, Serena, additional, Rrapaj, Eniada, additional, Casirati, Elia, additional, Passignani, Giulia, additional, Baselli, Guido Alessandro, additional, Ronzoni, Luisa, additional, Della Torre, Sara, additional, Dongiovanni, Paola, additional, Prati, Daniele, additional, Romeo, Stefano, additional, and Valenti, Luca, additional
- Published
- 2023
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- View/download PDF
22. Predictors of controlled attenuation parameter in metabolic dysfunction
- Author
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Bianco, Cristiana, Pelusi, Serena, Margarita, Sara, Tavaglione, Federica, Jamialahmadi, Oveis, Malvestiti, Francesco, Periti, Giulia, Rondena, Jessica, Tomasi, Melissa, Carpani, Rossana, Ronzoni, Luisa, Vidali, Matteo, Ceriotti, Ferruccio, Fraquelli, Mirella, Vespasiani‐Gentilucci, Umberto, Romeo, Stefano, Prati, Daniele, and Valenti, Luca
- Abstract
Hepatic fat content can be non‐invasively estimated by controlled attenuation parameter (CAP) during transient elastography. The aim of this study was to examine the determinants and predictors of CAP values in individuals with metabolic dysfunction. We enrolled 1230 consecutive apparently healthy individuals (Liver‐Bible‐2022 cohort) with ≥3 metabolic dysfunction features. CAP was measured by Fibroscan. CAP determinants and predictors were identified using backward stepwise analysis and introduced in generalized linear models. Participants were predominantly males (82.9%), mean age was 53.8 ± 6.4 years, 600 (48.8%) had steatosis (CAP ≥ 275 dB/m), and 27 had liver stiffness measurement (LSM) ≥ 8 kPa. CAP values correlated with LSM (p< 10−22). In multivariable analysis, fasting insulin and abdominal circumference (AC) were the main determinants of CAP (p< 10−6), together with body mass index (BMI; p< 10−4), age, diabetes, triglycerides, ferritin, and lower HDL and thyroid stimulating hormone (TSH; p< 0.05 for all). In a subset of 592 participants with thyroid hormone measurement, we found an association between higher free triiodothyronine levels, correlating with lower TSH, and CAP values, independent of TSH and of levothyroxine treatment (p= 0.0025). A clinical CAP score based on age, BMI, AC, HbA1c, ALT, and HDL predicted CAP ≥ 275 dB/m with moderate accuracy (AUROC = 0.73), which was better than that of the Fatty Liver Index and of ALT (AUROC = 0.70/0.61, respectively) and validated it in multiple cohorts. Abdominal adiposity and insulin resistance severity were the main determinants of CAP in individuals with metabolic dysfunction and may improve steatotic liver disease risk stratification. CAP values were modulated by the hypophysis‐thyroid axis.
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- 2024
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23. Adverse effect of PNPLA3 p.I148M genetic variant on kidney function in middle‐aged individuals with metabolic dysfunction
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Mantovani, Alessandro, primary, Pelusi, Serena, additional, Margarita, Sara, additional, Malvestiti, Francesco, additional, Dell'Alma, Michela, additional, Bianco, Cristiana, additional, Ronzoni, Luisa, additional, Prati, Daniele, additional, Targher, Giovanni, additional, and Valenti, Luca, additional
- Published
- 2023
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24. SARS-CoV-2 infection in children: A 24 months experience with focus on risk factors in a pediatric tertiary care hospital in Milan, Italy
- Author
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Di Pietro, Giada Maria, primary, Ronzoni, Luisa, additional, Meschia, Lorenzo Maria, additional, Tagliabue, Claudia, additional, Lombardi, Angela, additional, Pinzani, Raffaella, additional, Bosis, Samantha, additional, Marchisio, Paola Giovanna, additional, and Valenti, Luca, additional
- Published
- 2023
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25. Circulating Indian Hedgehog is a Marker of the Hepatocyte-TAZ Pathway in Experimental NASH and is Elevated in Humans with NASH
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Moore, Mary Patricia, primary, Wang, Xiaobo, additional, Shi, Hongxue, additional, Meroni, Marica, additional, Cherubini, Alessandro, additional, Ronzoni, Luisa, additional, Parks, Elizabeth J., additional, Ibdah, Jamal A., additional, Rector, R. Scott, additional, Valenti, Luca, additional, Dongiovanni, Paola, additional, and Tabas, Ira, additional
- Published
- 2023
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26. Clinical and genetic determinants of the fatty liver–coagulation balance interplay in individuals with metabolic dysfunction
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Valenti, Luca, primary, Tripodi, Armando, additional, La Mura, Vincenzo, additional, Pelusi, Serena, additional, Bianco, Cristiana, additional, Scalambrino, Erica, additional, Margarita, Sara, additional, Malvestiti, Francesco, additional, Ronzoni, Luisa, additional, Clerici, Marigrazia, additional, D’Ambrosio, Roberta, additional, Fraquelli, Mirella, additional, Carpani, Rossana, additional, Prati, Daniele, additional, and Peyvandi, Flora, additional
- Published
- 2022
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27. Chapter 19 - Hereditary hemochromatosis
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Valenti, Luca, Pelusi, Serena, and Ronzoni, Luisa
- Published
- 2023
- Full Text
- View/download PDF
28. Rare ATG7 genetic variants predispose patients to severe fatty liver disease
- Author
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Baselli, Guido A., primary, Jamialahmadi, Oveis, additional, Pelusi, Serena, additional, Ciociola, Ester, additional, Malvestiti, Francesco, additional, Saracino, Marco, additional, Santoro, Luigi, additional, Cherubini, Alessandro, additional, Dongiovanni, Paola, additional, Maggioni, Marco, additional, Bianco, Cristiana, additional, Tavaglione, Federica, additional, Cespiati, Annalisa, additional, Mancina, Rosellina M., additional, D’Ambrosio, Roberta, additional, Vaira, Valentina, additional, Petta, Salvatore, additional, Miele, Luca, additional, Vespasiani-Gentilucci, Umberto, additional, Federico, Alessandro, additional, Pihlajamaki, Jussi, additional, Bugianesi, Elisabetta, additional, Fracanzani, Anna L., additional, Reeves, Helen L., additional, Soardo, Giorgio, additional, Prati, Daniele, additional, Romeo, Stefano, additional, Valenti, Luca VC., additional, Borroni, Vittorio, additional, Liguori, Antonio, additional, Ronzoni, Luisa, additional, Tomasi, Melissa, additional, Lombardi, Angela, additional, Ostadreza, Mahnoosh, additional, Casirati, Elia, additional, Marini, Ilaria, additional, Maier, Silvia, additional, Rosso, Chiara, additional, Baroni, Gianluca Svegliati, additional, Santaniello, Carlo, additional, and Dallio, Marcello, additional
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- 2022
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29. Is Cutis Verticis Gyrata-Intellectual Disability Syndrome an Underdiagnosed Condition? A Case Report and Review of 62 Cases
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Tucci, Arianna, Pezzani, Lidia, Scuvera, Giulietta, Ronzoni, Luisa, Scola, Elisa, Esposito, Susanna, and Milani, Donatella
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- 2017
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30. Validation of a targeted gene panel sequencing for the diagnosis of hereditary chronic liver diseases.
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Ronzoni, Luisa, Marini, Ilaria, Passignani, Giulia, Malvestiti, Francesco, Marchelli, Daniele, Bianco, Cristiana, Pelusi, Serena, Prati, Daniele, and Valenti, Luca
- Subjects
LIVER diseases ,CHRONIC diseases ,IRON overload ,GENETIC testing ,GENES ,IRON metabolism - Abstract
Background: The cause of chronic liver diseases (CLD) remains undiagnosed in up to 30% of adult patients. Whole-Exome Sequencing (WES) can improve the diagnostic rate of genetic conditions, but it is not yet widely available, due to the costs and the difficulties in results interpretation. Targeted panel sequencing (TS) represents an alternative more focused diagnostic approach. Aims: To validate a customized TS for hereditary CLD diagnosis. Methods: We designed a customized panel including 82 CLD-associated genes (iron overload, lipid metabolism, cholestatic diseases, storage diseases, specific hereditary CLD and susceptibility to liver diseases). DNA samples from 19 unrelated adult patients with undiagnosed CLD were analyzed by both TS (HaloPlex) and WES (SureSelect Human All Exon kit v5) and the diagnostic performances were compared. Results: The mean depth of coverage of TS-targeted regions was higher with TS than WES (300x vs. 102x; p < 0.0001). Moreover, TS yielded a higher average coverage per gene and lower fraction of exons with low coverage (p < 0.0001). Overall, 374 unique variants were identified across all samples, 98 of which were classified as "Pathogenic" or "Likely Pathogenic" with a high functional impact (HFI). The majority of HFI variants (91%) were detected by both methods; 6 were uniquely identified by TS and 3 by WES. Discrepancies in variant calling were mainly due to variability in read depth and insufficient coverage in the corresponding target regions. All variants were confirmed by Sanger sequencing except two uniquely detected by TS. Detection rate and specificity for variants in TS-targeted regions of TS were 96.9% and 97.9% respectively, whereas those of WES were 95.8% and 100%, respectively. Conclusion: TS was confirmed to be a valid first-tier genetic test, with an average mean depth per gene higher than WES and a comparable detection rate and specificity. [ABSTRACT FROM AUTHOR]
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- 2023
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31. Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW‐related prenatal findings
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Ronzoni, Luisa, primary, Boito, Simona, additional, Meossi, Camilla, additional, Cesaretti, Claudia, additional, Rinaldi, Berardo, additional, Agolini, Emanuele, additional, Rizzuti, Tommaso, additional, Pezzoli, Laura, additional, Silipigni, Rosamaria, additional, Novelli, Antonio, additional, Iascone, Maria, additional, Persico, Nicola, additional, and Natacci, Federica, additional
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- 2022
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32. Increased burden of inherited IRF3 rare genetic variants in Europeans with severe Non-alcoholic fatty liver diease
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Santoro, Luigi, primary, Marchelli, Daniele, additional, Cherubini, Alessandro, additional, Casirati, Elia, additional, Malvestiti, Francesco, additional, Tomasi, Melissa, additional, Dongiovanni, Paola, additional, Bianco, Cristiana, additional, Meroni, Marica, additional, Federico, Alessandro, additional, Petta, Salvatore, additional, Bugianesi, Elisabetta, additional, Soardo, Giorgio, additional, Gentilucci, Umberto Vespasiani, additional, Miele, Luca, additional, Reeves, Helen, additional, Prati, Daniele, additional, Ronzoni, Luisa, additional, Baselli, Giodo, additional, and Valenti, Luca, additional
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- 2022
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33. Genetics: A new clinical tool for the hepatologist
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Valenti, Luca, primary and Ronzoni, Luisa, additional
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- 2022
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34. Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene
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Ronzoni, Luisa, Tagliaferri, Francesco, Tucci, Arianna, Baccarin, Marco, Esposito, Susanna, and Milani, Donatella
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- 2016
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35. Selective toxicity of dihydroartemisinin on human CD34+ erythroid cell differentiation
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Finaurini, Sara, Ronzoni, Luisa, Colancecco, Alessandra, Cattaneo, Alessandra, Cappellini, Maria Domenica, Ward, Stephen A., and Taramelli, Donatella
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- 2010
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36. Clinical exome sequencing for diagnosing severe cryptogenic liver disease in adults: A case series
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Pelusi, Serena, primary, Ronzoni, Luisa, additional, Malvestiti, Francesco, additional, Bianco, Cristiana, additional, Marini, Ilaria, additional, D'Ambrosio, Roberta, additional, Giannotta, Juri Alessandro, additional, Soardo, Giorgio, additional, Maggioni, Marco, additional, Prati, Daniele, additional, and Valenti, Luca, additional
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- 2022
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37. Response to “characteristics of 2p15‐p16.1 microdeletion syndrome: review and description of two additional patients”
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Ronzoni, Luisa, Saletti, Veronica, Scuvera, Giulietta, Esposito, Susanna, and Milani, Donatella
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- 2015
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38. Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: A genotype–phenotype analysis
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Ronzoni, Luisa, Peron, Angela, Bianchi, Vera, Baccarin, Marco, Guerneri, Silvana, Silipigni, Rosamaria, Lalatta, Faustina, and Bedeschi, Maria Francesca
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- 2015
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39. Trends and risk factors of SARS‐CoV‐2 infection in asymptomatic blood donors
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Valenti, Luca, primary, Pelusi, Serena, additional, Cherubini, Alessandro, additional, Bianco, Cristiana, additional, Ronzoni, Luisa, additional, Uceda Renteria, Sara, additional, Coluccio, Elena, additional, Berzuini, Alessandra, additional, Lombardi, Angela, additional, Terranova, Leonardo, additional, Malvestiti, Francesco, additional, Lamorte, Giuseppe, additional, Erba, Elisa, additional, Oggioni, Massimo, additional, Ceriotti, Ferruccio, additional, and Prati, Daniele, additional
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- 2021
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40. Erythroid differentiation and maturation from peripheral CD34 + cells in liquid culture: Cellular and molecular characterization
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Ronzoni, Luisa, Bonara, Paola, Rusconi, Daniela, Frugoni, Cecilia, Libani, Ilaria, and Cappellini, Maria Domenica
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- 2008
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41. Modulation of gamma globin genes expression by histone deacetylase inhibitors: an in vitro study
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Ronzoni, Luisa, Sonzogni, Laura, Fossati, Gianluca, Modena, Daniela, Trombetta, Elena, Porretti, Laura, and Cappellini, Maria Domenica
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- 2014
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42. Modification of sialidase levels and sialoglycoconjugate pattern during erythroid and erytroleukemic cell differentiation
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Tringali, Cristina, Anastasia, Luigi, Papini, Nadia, Bianchi, Anna, Ronzoni, Luisa, Cappellini, Maria Domenica, Monti, Eugenio, Tettamanti, Guido, and Venerando, Bruno
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- 2007
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43. THU-318 - High diagnostic uptake of a targeted panel sequencing in adult patients with chronic hereditary liver disorders
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Ronzoni, Luisa, Marini, Ilaria, Pelusi, Serena, Golfetto, Federica, Lombardi, Angela, Rondena, Jessica, Periti, Giulia, Bianco, Cristiana, Passignani, Giulia, D’Ambrosio, Roberta, Prati, Daniele, and Valenti, Luca
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- 2023
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44. WED-393 - A functional interaction between hepatic estrogen receptor-α and PNPLA3 p.I148M inherited variant drives fatty liver disease susceptibility in women
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Cherubini, Alessandro, Ostadreza, Mahnoosh, Jamialahmadi, Oveis, Pelusi, Serena, Rrapaj, Eniada, Casirati, Elia, Passignani, Giulia, Baselli, Guido Alessandro, Ronzoni, Luisa, Della Torre, Sara, Dongiovanni, Paola, Prati, Daniele, Romeo, Stefano, and Valenti, Luca
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- 2023
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45. FRI-288 - A prospective multicenter study to examine the impact of acquired and genetic predictors on Hepatocellular carcinoma risk in patients with advanced NAFLD: first report
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Pelusi, Serena, Bianco, Cristiana, Ronzoni, Luisa, Cherubini, Alessandro, Marini, Ilaria, Malvestiti, Francesco, D’Ambrosio, Roberta, Fracanzani, Anna Ludovica, Cespiati, Annalisa, Soardo, Giorgio, Pivetta, Stephanie, Miele, Luca, Liguori, Antonio, Bugianesi, Elisabetta, Rosso, Chiara, Petta, Salvatore, Pennisi, Grazia, Gentilucci, Umberto Vespasiani, Tavaglione, Federica, Federico, Alessandro, Russo, Francesco Paolo, Zanaga, Paola, Masarone, Mario, Prati, Daniele, and Valenti, Luca
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- 2023
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46. Ultrasound 2-D and 3-D diagnosis of Rubinstein–Taybi syndrome in a 21-week-old fetus.
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D'Ambrosi, Francesco, Ronzoni, Luisa, Villa, Roberta, De Marinis, Stefano, Cetera, Giulia Emily, Soldavini, Chiara Maria, and Ferrazzi, Enrico
- Abstract
Rubinstein–Taybi syndrome is a rare genetic multisystem disorder with an estimated prevalence between 1 per 100,000–125,000 live births. Diagnosis is usually clinical and subsequent to birth. In fact, the rarity of the syndrome and the presence of aspecific morphologic anomalies make prenatal diagnosis challenging. The aim of our work is to analyze ultrasonographic findings, detectable with a combination of 2D and 3D techniques, which may increase the sensitivity of in utero diagnosis of this condition. We report a case of a sonographic prenatal diagnosis of broad and angulated thumbs and halluces and of an abnormal ductus venosus at 21 weeks of gestational age. These findings allowed us to suspect Rubinstein–Taybi syndrome. An accurate ultrasonographic examination may allow a prenatal diagnosis of those syndromes which are usually diagnosed after birth. [ABSTRACT FROM AUTHOR]
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- 2022
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47. Increased RISK for 47,XXY on cell‐free DNA screen: Not always Klinefelter syndrome
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Ronzoni, Luisa, primary, Bedeschi, Maria Francesca, additional, Silibello, Gaia, additional, Accurti, Veronica, additional, Di Segni, Marina, additional, Nicotra, Valeria, additional, Vizziello, Paola, additional, and Lalatta, Faustina, additional
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- 2021
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48. p57Kip2 is a downstream effector of BCR–ABL kinase inhibitors in chronic myelogenous leukemia cells
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Borriello, Adriana, Caldarelli, Ilaria, Bencivenga, Debora, Cucciolla, Valeria, Oliva, Adriana, Usala, Emilio, Danise, Paolo, Ronzoni, Luisa, Perrotta, Silverio, and Della Ragione, Fulvio
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- 2011
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49. A highly conserved SOX6 double binding site mediates SOX6 gene downregulation in erythroid cells
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Cantuʼ, Claudio, Grande, Vito, Alborelli, Ilaria, Cassinelli, Letizia, Cantu’, Ileana, Colzani, Maria Teresa, Ierardi, Rossella, Ronzoni, Luisa, Cappellini, Maria Domenica, Ferrari, Giuliana, Ottolenghi, Sergio, and Ronchi, Antonella
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- 2011
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50. Incidence of chromosomal abnormalities in fetuses with first trimester ultrasound anomalies and a low‐risk cell‐free DNA test for common trisomies
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Persico, Nicola, primary, Boito, Simona, additional, Volpe, Paolo, additional, Ischia, Benedetta, additional, Gentile, Mattia, additional, Ronzoni, Luisa, additional, De Robertis, Valentina, additional, Fabietti, Isabella, additional, Olivieri, Claudiana, additional, Periti, Enrico, additional, Ficarella, Romina, additional, Silipigni, Rosamaria, additional, and Rembouskos, Georgios, additional
- Published
- 2020
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