Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140

Authors: Winterbottom, Jean, Simms, Roslyn J., Caroli, Anna, Demoulin, Nathalie, Furlano, Monica, Pybus, Marc, Gansevoort, Ron, Meijer, Esther, Grall, A., Moal, M.C., Tanquerel, T., Hanrotel, C., Segalen, I., Lanfranco, L., C, Mesguen, A, Kersale, A, Capdeville, V, Huynh, Hourmant, M., Dantal, J., Giral, M., Meurette, A., Lino, M., Garandeau, C., Hodemon-Corne, B., Allain-Launay, E., Cantarovich, D., Blancho, G., Hristea, D., Couvrat, G., Fakhouri, F., Lavainne, F., Vercel, C., Chapal, M., Le Fur, A., Gourraud, C., Deltombe, C., Vigneau, C., Morin, M.P., Le Pogamp, P., Frouget, T., Gie, S., Rivalan, J., Laruelle, E., Richer, C., Lorcy, N., Golbin, L., Terrasse, M., Morice, S., Brenier, H., Michel, A., Tomkiewicz, E., Nguyen, Q.L., Vabret, E., Lavergne, A., Pierre, E., Chemouny, J., Halimi, J.M., Longuet, H., Gatault, P., Merieau, E., Barbet, C., Buchler, M., Golea, G., Ghouti, L., Gautard, D., Sautenet, B., François, M., Fournier, A., Baron, C., Salmon, C., Rabot, N., Prat, L., Valentin, J.F., Chevallier, E., Birmele, B., Genest, C., Goin, N., Goumard, A., Bridoux, F., Desport, E., Thierry, A., Ecotiere, L., Touchard, G., Belmouaz, M., Javaugue, V., Bauwens, M., Fride-Leroy, F., Goussard, G., Bouteau, I., Jacquemont, L., Subra, J.F., Augusto, J.F., Duveau, A., Besson, V., Cousin, M., Sayegh, J., Onno, C., Maghakian, M.N., Demiselle, J., Deschamps, C., Garnier, A.S., Guibert, F., Planchais, M., Charasse, C., Stanescu, C., Le Cacheux, P., Baluta, S., Leonetti, F., Boulahrouz, R., Ferrier, M.L., Freguin, C., Simon, A., Potier, J., Coulibaly, J.M., Colombo, A., Delezire, A., Renaudineau, E., Dolley-Hitze, T., Perrichot, R., Michez, E., Mandart, L., Menoyo, V., Pincon, E., Muresan, C., Durand, P.Y., Corlu, L., Wegner, I., Siohan, P., Metes, I., Guyon-Roger, T., Wehbe, B., Gueguen, L., Drouet, C., Loheac, C., Sawadogo, T., Le Guillou, A., Le Jeune, M., Beillard, G., Lefevre, S., Chamontin, C., Georgescu, S., Jousset, P., Latif, R., Massad, M., Jaulin, J.P., Querard, A.H., Ottavioli, J.N., Target, N., Chapal, A., Charpy, V., Besnier, D., Regnier-Le Coz, S., Blanpain, A., Durault, S., Larmet, D., Le Clech, A., Pouteau, L.M., Labatut, D., Coindre, J.P., Sigogne, M., Piccoli, G., Bachelet-Rousseau, C., Delbes, S., Fritz, O., Pourreau, F., Mzoughi, S., Guillodo, M.P., Gosselin, M., Depraetre, P., Strullu, B., Chaffara, E., Le Mee, M., Terki, N., Goulesque, K., Benarbia, S., Dimulescu, M., Rifaat, M., Duneau, G., Legrand, D., Georges, E., Seret, G., Babinet, F., Lanoiselee, S., Savoiu, C., Testa, A., Oancea, I., Coupel, I., Parahy, S., Lefrancois, G., Briand, E., Bugnon, D., Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boustred, Christopher R., Brittain, Helen, Chan, Georgia C., Fowler, Tom, Giess, Adam, Hamblin, Angela, Hubbard, Tim J.P., Jackson, Rob, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Murugaesu, Nirupa, O’Donovan, Peter, Odhams, Chris A., Pereira, Mariana Buongermino, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thompson, Simon R., Welland, Matthew J., Williams, Eleanor, Boardman-Pretty, Freya, Moutsianas, Loukas, Mueller, Michael, Caulfield, Mark J., Elgar, Greg, Henderson, Shirley, Jones, Louise J., Kasperaviciute, Dalia, Need, Anna C., Patch, Christine, Sosinsky, Alona, Thomas, Ellen R.A., Tucci, Arianna, Witkowska, Katarzyna, Wood, Suzanne M., Zagorec, Nikola ^{1, 11, 12, ∗}, Calamel, Alizée ^{1, ∗}, Delaporte, Margaux ¹, Olinger, Eric ¹³, Orr, Sarah ¹⁵, Sayer, John A. ^{15, 16, 17}, Pillay, Vignesh-Guru ^{4, 6}, Denommé-Pichon, Anne-Sophie ^{4, 6}, Tran Mau-Them, Frederic ^{4, 6}, Nambot, Sophie ^{6, 7}, Faivre, Laurence ^{5, 6, 7}, Ars, Elisabet ²⁰, Torra, Roser ²¹, Ong, Albert C.M. ^{18, 19}, Devuyst, Olivier ^{14, 22}, Perico, Noberto ²³, Després, Aurore Michel ², Lemoine, Hugo ³, de Fallois, Jonathan ²⁴, Brousse, Romain ⁸, Hummel, Aurélie ⁹, Knebelmann, Bertrand ⁹, Maisonneuve, Nathalie ¹⁰, Halbritter, Jan ²⁵, Le Meur, Yannick ^{1, 26}, Audrézet, Marie-Pierre ^{2, 3}, Cornec-Le Gall, Emilie ^{1, 3, ∗}

Source: In American Journal of Kidney Diseases April 2025 85(4):465-476

Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease

Authors: Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Pereira, Mariana Buongermino, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Schönauer, Ria, Sierks, Dana, Boerrigter, Melissa, Jawaid, Tabinda, Caroff, Lea, Audrezet, Marie-Pierre, Friedrich, Anja, Shaw, Melissa, Degenhardt, Jan, Forberger, Mirjam, de Fallois, Jonathan, Bläker, Hendrik, Bergmann, Carsten, Gödiker, Juliana, Schindler, Philipp, Schlevogt, Bernhard, Müller, Roman-U., Berg, Thomas, Patterson, Ilse, Griffiths, William J., Sayer, John A., Popp, Bernt, Torres, Vicente E., Hogan, Marie C., Somlo, Stefan, Watnick, Terry J., Nevens, Frederik, Besse, Whitney, Cornec-Le Gall, Emilie, Harris, Peter C., Drenth, Joost P.H., Halbritter, Jan

Source: In Gastroenterology May 2024 166(5):902-914

Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease

Authors: Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Pereira, Mariana Buongermino, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Claus, Laura R., Chen, Chuan, Stallworth, Jennifer, Turner, Joshua L., Slaats, Gisela G., Hawks, Alexandra L., Mabillard, Holly, Senum, Sarah R., Srikanth, Sujata, Flanagan-Steet, Heather, Louie, Raymond J., Silver, Josh, Lerner-Ellis, Jordan, Morel, Chantal, Mighton, Chloe, Sleutels, Frank, van Slegtenhorst, Marjon, van Ham, Tjakko, Brooks, Alice S., Dorresteijn, Eiske M., Barakat, Tahsin Stefan, Dahan, Karin, Demoulin, Nathalie, Goffin, Eric Jean, Olinger, Eric, Larsen, Martin, Hertz, Jens Michael, Lilien, Marc R., Obeidová, Lena, Seeman, Tomas, Stone, Hillarey K., Kerecuk, Larissa, Gurgu, Mihai, Yousef Yengej, Fjodor A., Ammerlaan, Carola M.E., Rookmaaker, Maarten B., Hanna, Christian, Rogers, R. Curtis, Duran, Karen, Peters, Edith, Sayer, John A., van Haaften, Gijs, Harris, Peter C., Ling, Kun, Mason, Jennifer M., van Eerde, Albertien M., Steet, Richard

Source: In Kidney International November 2023 104(5):995-1007

Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease

Authors: Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Pereira, Mariana Buongermino, PerezGil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Sadeghi-Alavijeh, Omid, Chan, Melanie M.Y., Moochhala, Shabbir H., Howles, Sarah, Gale, Daniel P., Böckenhauer, Detlef

Source: In Kidney International November 2023 104(5):975-984

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Authors: Pochiero, Francesca, Mari, Francesco, Ramesh, Venkateswaran, Capra, Valeria, Mancardi, Margherita, Keren, Boris, Mignot, Cyiril, Lulli, Matteo, Parks, Kendall, Griffin, Helen, Brugger, Melanie, Nigro, Vincenzo, Hirata, Yuko, Koichihara, Reiko, Peterlin, Borut, Maki, Ryuto, Nitta, Yohei, Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Brown, Matthew A., Caulfield, Mark J., Chan, Georgia C., Giess, Adam, Griffin, John N., Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Lakey, Anna, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Mitchell, Jonathan, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Perez-Gil, Daniel, Pereira, Marina B., Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Vetro, Annalisa, Pelorosso, Cristiana, Balestrini, Simona, Masi, Alessio, Hambleton, Sophie, Argilli, Emanuela, Conti, Valerio, Giubbolini, Simone, Barrick, Rebekah, Bergant, Gaber, Writzl, Karin, Bijlsma, Emilia K., Brunet, Theresa, Cacheiro, Pilar, Mei, Davide, Devlin, Anita, Hoffer, Mariëtte J.V., Machol, Keren, Mannaioni, Guido, Sakamoto, Masamune, Menezes, Manoj P., Courtin, Thomas, Sherr, Elliott, Parra, Riccardo, Richardson, Ruth, Roscioli, Tony, Scala, Marcello, von Stülpnagel, Celina, Smedley, Damian, Torella, Annalaura, Tohyama, Jun, Hamada, Keisuke, Ogata, Kazuhiro, Suzuki, Takashi, Sugie, Atsushi, van der Smagt, Jasper J., van Gassen, Koen, Valence, Stephanie, Vittery, Emma, Malone, Stephen, Kato, Mitsuhiro, Matsumoto, Naomichi, Ratto, Gian Michele, Guerrini, Renzo

Source: In The American Journal of Human Genetics 3 August 2023 110(8):1356-1376

Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene

Authors: Ingram, Stuart, Taylor, Rachel, Manson, Forbes, Sergouniotis, Panagiotis, Pontikos, Nikolas, Cheetham, Michael, Fiorentino, Alessia, Downes, Susan, Yu, Jing, Halford, Stephanie, Broadgate, Suzanne, van Heyningen, Veronica, Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Pereira, Mariana Buongermino, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Yahya, Samar, Smith, Claire E.L., Poulter, James A., McKibbin, Martin, Arno, Gavin, Ellingford, Jamie, Kämpjärvi, Kati, Khan, Muhammad I., Cremers, Frans P.M., Hardcastle, Alison J., Castle, Bruce, Steel, David H.W., Webster, Andrew R., Black, Graeme C., El-Asrag, Mohammed E., Ali, Manir, Toomes, Carmel, Inglehearn, Chris F.

Source: In Ophthalmology January 2023 130(1):68-76

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

Authors: Nickerson, Deborah, Bamshad, Michael, Leal, Suzanne, Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., FionaMaleady-Crowe, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Pereira, Mariana Buongermino, Perez-Gil, Daniel, Pullinger, John, TahrimaRahim, Rendon, Augusto, TimRogers, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Al-Jawahiri, Reem, Foroutan, Aidin, Kerkhof, Jennifer, McConkey, Haley, Levy, Michael, Haghshenas, Sadegheh, Rooney, Kathleen, Turner, Jasmin, Shears, Debbie, Holder, Muriel, Lefroy, Henrietta, Castle, Bruce, Reis, Linda M., Semina, Elena V., Lachlan, Katherine, Chandler, Kate, Wright, Thomas, Clayton-Smith, Jill, Hug, Franziska Phan, Pitteloud, Nelly, Bartoloni, Lucia, Hoffjan, Sabine, Park, Soo-Mi, Thankamony, Ajay, Lees, Melissa, Wakeling, Emma, Naik, Swati, Hanker, Britta, Girisha, Katta M., Agolini, Emanuele, Giuseppe, Zampino, Alban, Ziegler, Tessarech, Marine, Keren, Boris, Afenjar, Alexandra, Zweier, Christiane, Reis, Andre, Smol, Thomas, Tsurusaki, Yoshinori, Nobuhiko, Okamoto, Sekiguchi, Futoshi, Tsuchida, Naomi, Matsumoto, Naomichi, Kou, Ikuyo, Yonezawa, Yoshiro, Ikegawa, Shiro, Callewaert, Bert, Freeth, Megan, Kleinendorst, Lotte, Donaldson, Alan, Alders, Marielle, De Paepe, Anne, Sadikovic, Bekim, McNeill, Alisdair

Source: In Genetics in Medicine June 2022 24(6):1261-1273

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Authors: McDonagh, Ellen M, Rueda, Antonio, Polychronopoulos, Dimitris, Chan, Georgia, Angus-Leppan, Heather, Bhatia, Kailash P, Davison, James E, Festenstein, Richard, Fratta, Pietro, Giunti, Paola, Howard, Robin, Venkata, Laxmi, Laurá, Matilde, McEntagart, Meriel, Menzies, Lara, Morris, Huw, Reilly, Mary M, Robinson, Robert, Rosser, Elisabeth, Faravelli, Francesca, Schrag, Anette, Schott, Jonathan M, Warner, Thomas T, Wood, Nicholas W, Bourn, David, Eggleton, Kelly, Labrum, Robyn, Twiss, Philip, Abbs, Stephen, Santos, Liana, Almheiri, Ghareesa, Sheikh, Isabella, Vandrovcova, Jana, Patch, Christine, Taylor Tavares, Ana Lisa, Hyder, Zerin, Need, Anna, Brittain, Helen, Baple, Emma, Moutsianas, Loukas, Deshpande, Viraj, Perry, Denise L, Ajay, Subramanian S., Chawla, Aditi, Rajan, Vani, Oprych, Kathryn, Chinnery, Patrick F, Douglas, Angela, Wilson, Gill, Ellard, Sian, Temple, I Karen, Mumford, Andrew, McMullan, Dom, Naresh, Kikkeri, Flinter, Frances A, Taylor, Jenny C, Greenhalgh, Lynn, Newman, William, Brennan, Paul, Sayer, John A, Raymond, F Lucy, Chitty, Lyn S, Ambrose, John C., Arumugam, Prabhu, Bleda, Marta, Boardman-Pretty, Freya, Boissiere, Jeanne M., Boustred, Christopher R., Craig, Clare E.H., de Burca, Anna, Devereau, Andrew, Elgar, Greg, Foulger, Rebecca E., Furió-Tarí, Pedro, Hackett, Joanne, Halai, Dina, Hamblin, Angela, Henderson, Shirley, Holman, James, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kayikci, Melis, Lahnstein, Lea, Lawson, Kay, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, Mason, Joanne, Mueller, Michael, Murugaesu, Nirupa, Odhams, Chris A., Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Riesgo-Ferreiro, Pablo, Rogers, Tim, Ryten, Mina, Savage, Kevin, Sawant, Kushmita, Siddiq, Afshan, Sieghart, Alexander, Smedley, Damian, Sosinsky, Alona, Spooner, William, Stevens, Helen E., Stuckey, Alexander, Sultana, Razvan, Thompson, Simon R., Tregidgo, Carolyn, Walsh, Emma, Watters, Sarah A., Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Ibañez, Kristina, Polke, James ^*, Hagelstrom, R Tanner ^*, Dolzhenko, Egor, Pasko, Dorota, Thomas, Ellen Rachel Amy, Daugherty, Louise C, Kasperaviciute, Dalia, Smith, Katherine R, Deans, Zandra C, Hill, Sue, Fowler, Tom, Scott, Richard H, Hardy, John, Houlden, Henry, Rendon, Augusto, Caulfield, Mark J, Eberle, Michael A, Taft, Ryan J ^**, Tucci, Arianna ^*

Source: In The Lancet Neurology March 2022 21(3):234-245

Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

Authors: Hyder, Zerin, Calpena, Eduardo, Pei, Yang, Tooze, Rebecca S., Brittain, Helen, Twigg, Stephen R.F., Cilliers, Deirdre, Morton, Jenny E.V., McCann, Emma, Weber, Astrid, Wilson, Louise C., Douglas, Andrew G.L., McGowan, Ruth, Need, Anna, Bond, Andrew, Tavares, Ana Lisa Taylor, Thomas, Ellen R.A., Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boustred, Christopher R., Chan, Georgia C., Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Pereira, Mariana Buongermino, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Hill, Susan L., Deans, Zandra C., Boardman-Pretty, Freya, Caulfield, Mark, Scott, Richard H., Wilkie, Andrew O.M.

Source: In Genetics in Medicine December 2021 23(12):2360-2368

SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues

Authors: Neale, Benjamin M., Daly, Mark, Ganna, Andrea, Stevens, Christine, Pathak, Gita A., Andrews, Shea J., Kanai, Masahiro, Cordioli, Mattia, Karjalainen, Juha, Polimanti, Renato, Pirinen, Matti, Harerimana, Nadia, Veerapen, Kumar, Wolford, Brooke, Nguyen, Huy, Solomonson, Matthew, Liao, Rachel G., Chwialkowska, Karolina, Trankiem, Amy, Balaconis, Mary K., Hayward, Caroline, Richmond, Anne, Campbell, Archie, Morris, Marcela, Fawns-Ritchie, Chloe, Glessner, Joseph T., Shaw, Douglas M., Chang, Xiao, Polikowski, Hannah, Lauren, Petty E., Chen, Hung-Hsin, Wanying, Zhu, Hakonarson, Hakon, Porteous, David J., Below, Jennifer, North, Kari, McCormick, Joseph B., Timmers, Paul R.H.J., Wilson, James F., Tenesa, Albert, D’Mellow, Kenton, Kerr, Shona M., Niemi, Mari E.K., Nkambul, Lindokuhle, Aprile von Hohenstaufen, Kathrin, Sobh, Ali, Eltoukhy, Madonna M., Yassen, Amr M., Hegazy, Mohamed A.F., Okasha, Kamal, Eid, Mohammed A., Moahmed, Hanteera S., Shahin, Doaa, El-Sherbiny, Yasser M., Elhadidy, Tamer A., Abd Elghafar, Mohamed S., El-Jawhari, Jehan J., Mohamed, Attia A.S., Elnagdy, Marwa H., Samir, Amr, Abdel-Aziz, Mahmoud, Khafaga, Walid T., El-Lawaty, Walaa M., Torky, Mohamed S., El-shanshory, Mohamed R., Batini, Chiara, Lee, Paul H., Shrine, Nick, Williams, Alexander T., Tobin, Martin D., Guyatt, Anna L., John, Catherine, Packer, Richard J., Ali, Altaf, Free, Robert C., Wang, Xueyang, Wain, Louise V., Hollox, Edward J., Venn, Laura D., Bee, Catherine E., Adams, Emma L., Niavarani, Ahmadreza, Sharififard, Bahareh, Aliannejad, Rasoul, Amirsavadkouhi, Ali, Naderpour, Zeinab, Tadi, Hengameh Ansari, Aleagha, Afshar Etemadi, Ahmadi, Saeideh, Mohseni Moghaddam, Seyed Behrooz, Adamsara, Alireza, Saeedi, Morteza, Abdollahi, Hamed, Hosseini, Abdolmajid, Chariyavilaskul, Pajaree, Chamnanphon, Monpat, Suttichet, Thitima B., Shotelersuk, Vorasuk, Pongpanich, Monnat, Phokaew, Chureerat, Chetruengchai, Wanna, Jantarabenjakul, Watsamon, Putchareon, Opass, Torvorapanit, Pattama, Puthanakit, Thanyawee, Suchartlikitwong, Pintip, Hirankarn, Nattiya, Nilaratanakul, Voraphoj, Sodsai, Pimpayao, Brumpton, Ben M., Hveem, Kristian, Willer, Cristen, Zhou, Wei, Rogne, Tormod, Solligard, Erik, Åsvold, Bjørn Olav, Abedalthagafi, Malak, Alaamery, Manal, Alqahtani, Saleh, Baraka, Dona, Al Harthi, Fawz, Alsolm, Ebtehal, Safieh, Leen Abu, Alowayn, Albandary M., Alqubaishi, Fatimah, Al Mutairi, Amal, Mangul, Serghei, Alshareef, Abdulraheem, Sawaji, Mona, Almutairi, Mansour, Aljawini, Nora, Albesher, Nour, Arabi, Yaseen M., Mahmoud, Ebrahim S., Khattab, Amin K., Halawani, Roaa T., Alahmadey, Ziab Z., Albakri, Jehad K., Felemban, Walaa A., Suliman, Bandar A., Hasanato, Rana, Al-Awdah, Laila, Alghamdi, Jahad, AlZahrani, Deema, AlJohani, Sameera, Al-Afghani, Hani, Alrashed, May, AlDhawi, Nouf, AlBardis, Hadeel, Alkwai, Sarah, Alswailm, Moneera, Almalki, Faisal, Albeladi, Maha, Almohammed, Iman, Barhoush, Eman, Albader, Anoud, Massadeh, Salam, AlMalik, Abdulaziz, Alotaibi, Sara, Alghamdi, Bader, Jung, Junghyun, Fawzy, Mohammad S., Lee, Yunsung, Magnus, Per, Trogstad, Lill-Iren S., Helgeland, Øyvind, Harris, Jennifer R., Mangino, Massimo, Spector, Tim D., Emma, Duncan, Smieszek, Sandra P., Przychodzen, Bartlomiej P., Polymeropoulos, Christos, Polymeropoulos, Vasilios, Polymeropoulos, Mihael H., Fernandez-Cadenas, Israel, Perez-Tur, Jordi, Llucià-Carol, Laia, Cullell, Natalia, Muiño, Elena, Cárcel-Márquez, Jara, DeDiego, Marta L., Iglesias, Lara Lloret, Planas, Anna M., Soriano, Alex, Rico, Veronica, Agüero, Daiana, Bedini, Josep L., Lozano, Francisco, Domingo, Carlos, Robles, Veronica, Ruiz-Jaén, Francisca, Márquez, Leonardo, Gomez, Juan, Coto, Eliecer, Albaiceta, Guillermo M., García-Clemente, Marta, Dalmau, David, Arranz, Maria J., Dietl, Beatriz, Serra-Llovich, Alex, Soler, Pere, Colobrán, Roger, Martín-Nalda, Andrea, Martínez, Alba Parra, Bernardo, David, Rojo, Silvia, Fiz-López, Aida, Arribas, Elisa, Cal-Sabater, Paloma de la, Segura, Tomás, González-Villa, Esther, Serrano-Heras, Gemma, Martí-Fàbregas, Joan, Jiménez-Xarrié, Elena, de Felipe Mimbrera, Alicia, Masjuan, Jaime, García-Madrona, Sebastian, Domínguez-Mayoral, Anna, Villalonga, Joan Montaner, Menéndez-Valladares, Paloma, Chasman, Daniel I., Buring, Julie E., Ridker, Paul M., Franco, Giulianini, Sesso, Howard D., Manson, JoAnn E., Glessner, Joseph R., Medina-Gomez, Carolina, Uitterlinden, Andre G., Ikram, M. Arfan, Kristiansson, Kati, Koskelainen, Sami, Perola, Markus, Donner, Kati, Kivinen, Katja, Palotie, Aarno, Ripatti, Samuli, Ruotsalainen, Sanni, Kaunisto, Mari, FinnGen, Nakanishi, Tomoko, Butler-Laporte, Guillaume, Forgetta, Vincenzo, Morrison, David R., Ghosh, Biswarup, Laurent, Laetitia, Belisle, Alexandre, Henry, Danielle, Abdullah, Tala, Adeleye, Olumide, Mamlouk, Noor, Kimchi, Nofar, Afrasiabi, Zaman, Branka Vulesevic, Nardin Rezk, Bouab, Meriem, Guzman, Charlotte, Petitjean, Louis, Tselios, Chris, Xue, Xiaoqing, Schurr, Erwin, Afilalo, Jonathan, Afilalo, Marc, Oliveira, Maureen, Brenner, Bluma, Lepage, Pierre, Ragoussis, Jiannis, Auld, Daniel, Brassard, Nathalie, Durand, Madeleine, Chassé, Michaël, Kaufmann, Daniel E., Lathrop, G. Mark, Mooser, Vincent, Richards, J. Brent, Li, Rui, Adra, Darin, Rahmouni, Souad, Georges, Michel, Moutschen, Michel, Misset, Benoit, Darcis, Gilles, Guiot, Julien, Guntz, Julien, Azarzar, Samira, Gofflot, Stéphanie, Beguin, Yves, Claassen, Sabine, Malaise, Olivier, Huynen, Pascale, Meuris, Christelle, Thys, Marie, Jacques, Jessica, Léonard, Philippe, Frippiat, Frederic, Giot, Jean-Baptiste, Sauvage, Anne-Sophie, Von Frenckell, Christian, Belhaj, Yasmine, Lambermont, Bernard, Pigazzini, Sara, Nkambule, Lindokuhle, Daya, Michelle, Shortt, Jonathan, Rafaels, Nicholas, Wicks, Stephen J., Crooks, Kristy, Barnes, Kathleen C., Gignoux, Christopher R., Chavan, Sameer, Laisk, Triin, Läll, Kristi, Lepamets, Maarja, Mägi, Reedik, Esko, Tõnu, Reimann, Ene, Milani, Lili, Alavere, Helene, Metsalu, Kristjan, Puusepp, Mairo, Metspalu, Andres, Naaber, Paul, Laane, Edward, Pesukova, Jaana, Peterson, Pärt, Kisand, Kai, Tabri, Jekaterina, Allos, Raili, Hensen, Kati, Starkopf, Joel, Ringmets, Inge, Tamm, Anu, Kallaste, Anne, Bochud, Pierre-Yves, Rivolta, Carlo, Bibert, Stéphanie, Quinodoz, Mathieu, Kamdar, Dhryata, Boillat, Noémie, Nussle, Semira Gonseth, Albrich, Werner, Suh, Noémie, Neofytos, Dionysios, Erard, Véronique, Voide, Cathy, FHoGID, RegCOVID, P-PredictUs, SeroCOVID, CRiPSI, de Cid, Rafael, Galván-Femenía, Iván, Blay, Natalia, Carreras, Anna, Cortés, Beatriz, Farré, Xavier, Sumoy, Lauro, Moreno, Victor, Mercader, Josep Maria, Guindo-Martinez, Marta, Torrents, David, Kogevinas, Manolis, Garcia-Aymerich, Judith, Castaño-Vinyals, Gemma, Dobaño, Carlota, Renieri, Alessandra, Mari, Francesca, Fallerini, Chiara, Daga, Sergio, Benetti, Elisa, Baldassarri, Margherita, Fava, Francesca, Frullanti, Elisa, Valentino, Floriana, Doddato, Gabriella, Giliberti, Annarita, Tita, Rossella, Amitrano, Sara, Bruttini, Mirella, Croci, Susanna, Meloni, Ilaria, Mencarelli, Maria Antonietta, Lo Rizzo, Caterina, Pinto, Anna Maria, Beligni, Giada, Tommasi, Andrea, Di Sarno, Laura, Palmieri, Maria, Carriero, Miriam Lucia, Alaverdian, Diana, Busani, Stefano, Bruno, Raffaele, Vecchia, Marco, Belli, Mary Ann, Picchiotti, Nicola, Sanarico, Maurizio, Gori, Marco, Furini, Simone, Mantovani, Stefania, Ludovisi, Serena, Mondelli, Mario Umberto, Castelli, Francesco, Quiros-Roldan, Eugenia, Antoni, Melania Degli, Zanella, Isabella, Vaghi, Massimo, Rusconi, Stefano, Siano, Matteo, Montagnani, Francesca, Emiliozzi, Arianna, Fabbiani, Massimiliano, Rossetti, Barbara, Bargagli, Elena, Bergantini, Laura, D’Alessandro, Miriana, Cameli, Paolo, Bennett, David, Anedda, Federico, Marcantonio, Simona, Scolletta, Sabino, Franchi, Federico, Mazzei, Maria Antonietta, Guerrini, Susanna, Conticini, Edoardo, Cantarini, Luca, Frediani, Bruno, Tacconi, Danilo, Spertilli, Chiara, Feri, Marco, Donati, Alice, Scala, Raffaele, Guidelli, Luca, Spargi, Genni, Corridi, Marta, Nencioni, Cesira, Croci, Leonardo, Bandini, Maria, Caldarelli, Gian Piero, Piacentini, Paolo, Desanctis, Elena, Cappelli, Silvia, Canaccini, Anna, Verzuri, Agnese, Anemoli, Valentina, Ognibene, Agostino, Pancrazzi, Alessandro, Lorubbio, Maria, D’Arminio Monforte, Antonella, Miraglia, Federica Gaia, Girardis, Massimo, Venturelli, Sophie, Cossarizza, Andrea, Antinori, Andrea, Vergori, Alessandra, Gabrieli, Arianna, Riva, Agostino, Francisci, Daniela, Schiaroli, Elisabetta, Paciosi, Francesco, Scotton, Pier Giorgio, Andretta, Francesca, Panese, Sandro, Scaggiante, Renzo, Gatti, Francesca, Parisi, Saverio Giuseppe, Baratti, Stefano, Della Monica, Matteo, Piscopo, Carmelo, Capasso, Mario, Russo, Roberta, Andolfo, Immacolata, Iolascon, Achille, Fiorentino, Giuseppe, Carella, Massimo, Castori, Marco, Merla, Giuseppe, Squeo, Gabriella Maria, Aucella, Filippo, Raggi, Pamela, Marciano, Carmen, Perna, Rita, Bassetti, Matteo, Di Biagio, Antonio, Sanguinetti, Maurizio, Masucci, Luca, Valente, Serafina, Mandalà, Marco, Giorli, Alessia, Salerni, Lorenzo, Zucchi, Patrizia, Parravicini, Pierpaolo, Menatti, Elisabetta, Trotta, Tullio, Giannattasio, Ferdinando, Coiro, Gabriella, Lena, Fabio, Coviello, Domenico A., Mussini, Cristina, Martinelli, Enrico, Mancarella, Sandro, Tavecchia, Luisa, Crotti, Lia, Gabbi, Chiara, Rizzi, Marco, Maggiolo, Franco, Ripamonti, Diego, Bachetti, Tiziana, La Rovere, Maria Teresa, Sarzi-Braga, Simona, Bussotti, Maurizio, Ceri, Stefano, Pinoli, Pietro, Raimondi, Francesco, Biscarini, Filippo, Stella, Alessandra, Zguro, Kristina, Capitani, Katia, Suardi, Claudia, Dei, Simona, Parati, Gianfranco, Ravaglia, Sabrina, Artuso, Rosangela, Bottà, Giordano, Di Domenico, Paolo, Rancan, Ilaria, Francesco Bianchi, Antonio Perrella, Romani, Davide, Bergomi, Paola, Catena, Emanuele, Colombo, Riccardo, Tanfoni, Marco, Vincenti, Antonella, Ferri, Claudio, Grassi, Davide, Pessina, Gloria, Tumbarello, Mario, Di Pietro, Massimo, Sabrina, Ravaglia, Luchi, Sauro, Barbieri, Chiara, Acquilini, Donatella, Andreucci, Elena, Segala, Francesco Vladimiro, Tiseo, Giusy, Falcone, Marco, Lista, Mirjam, Poscente, Monica, De Vivo, Oreste, Petrocelli, Paola, Guarnaccia, Alessandra, Baroni, Silvia, Smith, Albert V., Boughton, Andrew P., Li, Kevin W., LeFaive, Jonathon, Annis, Aubrey, Justice, Anne E., Mirshahi, Tooraj, Chittoor, Geetha, Josyula, Navya Shilpa, Kosmicki, Jack A., Ferreira, Manuel A.R., Leader, Joseph B., Carey, Dave J., Gass, Matthew C., Horowitz, Julie E., Cantor, Michael N., Yadav, Ashish, Baras, Aris, Abecasis, Goncalo R., van Heel, David A., Hunt, Karen A., Mason, Dan, Huang, Qin Qin, Finer, Sarah, Genes & Health Research Team, Trivedi, Bhavi, Griffiths, Christopher J., Martin, Hilary C., Wright, John, Trembath, Richard C., Soranzo, Nicole, Zhao, Jing Hua, Butterworth, Adam S., Danesh, John, Di Angelantonio, Emanuele, Marike Boezen, Lude Franke, Deelen, Patrick, Claringbould, Annique, Lopera, Esteban, Warmerdam, Robert, Vonk, Judith.M., van Blokland, Irene, Lanting, Pauline, Ori, Anil P.S., Sebastian Zöllner, Brooke Wolford, Wang, Jiongming, Beck, Andrew, Peloso, Gina, Ho, Yuk-Lam, Sun, Yan V., Huffman, Jennifer E., O’Donnell, Christopher J., Cho, Kelly, Tsao, Phil, Gaziano, J. Michael, Nivard, Michel (M.G.), de geus, Eco (E.J.C.), Bartels, Meike, Hottenga, Jouke Jan, Weiss, Scott T., Karlson, Elizabeth W., Smoller, Jordan W., Green, Robert C., Anne Feng, Yen-Chen, Mercader, Josep, Murphy, Shawn N., Meigs, James B., Woolley, Ann E., Perez, Emma F., Rader, Daniel, Verma, Anurag, Ritchie, Marylyn D., Li, Binglan, Verma, Shefali S., Lucas, Anastasia, Bradford, Yuki, Zeberg, Hugo, Frithiof, Robert, Hultström, Michael, Lipcsey, Miklos, Nkambul, Lindo, Tardif, Nicolas, Rooyackers, Olav, Grip, Jonathan, Maricic, Tomislav, Karczewski, Konrad J., Atkinson, Elizabeth G., Tsuo, Kristin, Baya, Nikolas, Turley, Patrick, Gupta, Rahul, Callier, Shawneequa, Walters, Raymond K., Palmer, Duncan S., Sarma, Gopal, Cheng, Nathan, Lu, Wenhan, Bryant, Sam, Churchhouse, Claire, Cusick, Caroline, Goldstein, Jacqueline I., King, Daniel, Seed, Cotton, Finucane, Hilary, Martin, Alicia R., Satterstrom, F. Kyle, Wilson, Daniel J., Armstrong, Jacob, Rudkin, Justine K., Band, Gavin, Earle, Sarah G., Lin, Shang-Kuan, Arning, Nicolas, Crook, Derrick W., Wyllie, David H., O’Connell, Anne Marie, Spencer, Chris C.A., Koelling, Nils, Caulfield, Mark J., Scott, Richard H., Fowler, Tom, Moutsianas, Loukas, Kousathanas, Athanasios, Pasko, Dorota, Walker, Susan, Rendon, Augusto, Stuckey, Alex, Odhams, Christopher A., Rhodes, Daniel, Chan, Georgia, Arumugam, Prabhu, Ball, Catherine A., Hong, Eurie L., Rand, Kristin, Girshick, Ahna, Guturu, Harendra, Baltzell, Asher Haug, Roberts, Genevieve, Park, Danny, Coignet, Marie, McCurdy, Shannon, Knight, Spencer, Partha, Raghavendran, Rhead, Brooke, Zhang, Miao, Berkowitz, Nathan, Gaddis, Michael, Noto, Keith, Ruiz, Luong, Pavlovic, Milos, Sloofman, Laura G., Charney, Alexander W., Beckmann, Noam D., Schadt, Eric E., Jordan, Daniel M., Thompson, Ryan C., Gettler, Kyle, Abul-Husn, Noura S., Ascolillo, Steven, Buxbaum, Joseph D., Chaudhary, Kumardeep, Cho, Judy H., Itan, Yuval, Kenny, Eimear E., Belbin, Gillian M., Sealfon, Stuart C., Sebra, Robert P., Salib, Irene, Collins, Brett L., Levy, Tess, Britvan, Bari, Keller, Katherine, Tang, Lara, Peruggia, Michael, Hiester, Liam L., Niblo, Kristi, Aksentijevich, Alexandra, Labkowsky, Alexander, Karp, Avromie, Zlatopolsky, Menachem, Preuss, Michael, Loos, Ruth J.F., Nadkarni, Girish N., Do, Ron, Hoggart, Clive, Choi, Sam, Underwood, Slayton J., O’Reilly, Paul, Huckins, Laura M., Zyndorf, Marissa, D’Antonio, Matteo, Nguyen, Jennifer P., Arthur, Timothy D., Matsui, Hiroko, D’Antonio-Chronowska, Agnieszka, Frazer, Kelly A.

Source: In Cell Reports 16 November 2021 37(7)

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Authors: Adeleye, Adelani, Alba, Camille, Bacikova, Dagmar, Hupalo, Daniel N., Martinez, Elisa McGrath, Pollard, Harvey B., Sukumar, Gauthaman, Soltis, Anthony R., Tuck, Meila, Zhang, Xijun, Wilkerson, Matthew D., Smith, Bradley N., Ticozzi, Nicola, Fallini, Claudia, Gkazi, Athina Soragia, Topp, Simon D., Kost, Jason, Scotter, Emma L., Kenna, Kevin P., Miller, Jack W., Tiloca, Cinzia, Vance, Caroline, Danielson, Eric W., Troakes, Claire, Colombrita, Claudia, Al-Sarraj, Safa, Lewis, Elizabeth A., King, Andrew, Calini, Daniela, Pensato, Viviana, Castellotti, Barbara, de Belleroche, Jacqueline, Baas, Frank, ten Asbroek, Anneloor L.M.A., Sapp, Peter C., McKenna-Yasek, Diane, McLaughlin, Russell L., Polak, Meraida, Asress, Seneshaw, Esteban-Pérez, Jesús, Muñoz-Blanco, José Luis, Stevic, Zorica, D’Alfonso, Sandra, Mazzini, Letizia, Comi, Giacomo P., Del Bo, Roberto, Ceroni, Mauro, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, van Rheenen, Wouter, Diekstra, Frank P., Rademakers, Rosa, van Blitterswijk, Marka, Boylan, Kevin B., Lauria, Giuseppe, Duga, Stefano, Corti, Stefania, Cereda, Cristina, Corrado, Lucia, Sorarù, Gianni, Williams, Kelly L., Nicholson, Garth A., Blair, Ian P., Leblond-Manry, Claire, Rouleau, Guy A., Hardiman, Orla, Morrison, Karen E., Veldink, Jan H., van den Berg, Leonard H., Al-Chalabi, Ammar, Pall, Hardev, Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Taroni, Franco, García-Redondo, Alberto, Wu, Zheyang, Gellera, Cinzia, Ratti, Antonia, Brown, Robert H., Jr., Shaw, Christopher E., Ambrose, John C., Arumugam, Prabhu, Baple, Emma L., Bleda, Marta, Boardman-Pretty, Freya, Boissiere, Jeanne M., Boustred, Christopher R., Brittain, H., Caulfield, Mark J., Chan, Georgia C., Craig, Clare E.H., Daugherty, Louise C., de Burca, Anna, Devereau, Andrew, Elgar, Greg, Foulger, Rebecca E., Fowler, Tom, Furió-Tarí, Pedro, Hackett, Joanne M., Halai, Dina, Hamblin, Angela, Henderson, Shirley, Holman, James E., Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Lahnstein, Lea, Lawson, Kay, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, Mason, Joanne, McDonagh, Ellen M., Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., Odhams, Chris A., Patch, Christine, Perez-Gil, Daniel, Polychronopoulos, Dimitris, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Riesgo-Ferreiro, Pablo, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smedley, Damian, Smith, Katherine R., Sosinsky, Alona, Spooner, William, Stevens, Helen E., Stuckey, Alexander, Sultana, Razvan, Thomas, Ellen R.A., Thompson, Simon R., Tregidgo, Carolyn, Walsh, Emma, Watters, Sarah A., Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Arepalli, Sampath, Auluck, Pavan, Baloh, Robert H., Bowser, Robert, Brice, Alexis, Broach, James, Camu, William, Chiò, Adriano, Cooper-Knock, John, Corcia, Philippe, Drepper, Carsten, Drory, Vivian E., Dunckley, Travis L., Faghri, Faraz, Farren, Jennifer, Feldman, Eva, Floeter, Mary Kay, Fratta, Pietro, Gerhard, Glenn, Gibson, Summer B., Goutman, Stephen A., Heiman-Patterson, Terry D., Hernandez, Dena G., Hoover, Ben, Jansson, Lilja, Kamel, Freya, Kirby, Janine, Kowall, Neil W., Laaksovirta, Hannu, Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, MacGowan, Daniel JL., Maragakis, Nicholas J., Mora, Gabriele, Mouzat, Kevin, Myllykangas, Liisa, Nalls, Mike A., Orrell, Richard W., Ostrow, Lyle W., Pamphlett, Roger, Pioro, Erik, Pulst, Stefan M., Ravits, John M., Renton, Alan E., Robberecht, Wim, Robey, Ian, Rogaeva, Ekaterina, Rothstein, Jeffrey D., Sendtner, Michael, Sidle, Katie C., Simmons, Zachary, Stone, David J., Tienari, Pentti J., Trojanowski, John Q., Troncoso, Juan C., Valori, Miko, Van Damme, Philip, Van Den Bosch, Ludo, Zinman, Lorne, Albani, Diego, Borroni, Barbara, Padovani, Alessandro, Bruni, Amalia, Clarimon, Jordi, Dols-Icardo, Oriol, Illán-Gala, Ignacio, Lleó, Alberto, Danek, Adrian, Galimberti, Daniela, Scarpini, Elio, Serpente, Maria, Graff, Caroline, Chiang, Huei-Hsin, Khoshnood, Behzad, Öijerstedt, Linn, Morris, Christopher M., Nacmias, Benedetta, Sorbi, Sandro, Nielsen, Jorgen E., Hjermind, Lynne E., Novelli, Valeria, Puca, Annibale A., Pastor, Pau, Alvarez, Ignacio, Diez-Fairen, Monica, Aguilar, Miquel, Perneczky, Robert, Diehl-Schimd, Janine, Rossi, Mina, Ruiz, Agustin, Boada, Mercè, Hernández, Isabel, Moreno-Grau, Sonia, Schlachetzki, Johannes C., Aarsland, Dag, Albert, Marilyn S., Attems, Johannes, Barrett, Matthew J., Beach, Thomas G., Bekris, Lynn M., Bennett, David A., Besser, Lilah M., Bigio, Eileen H., Black, Sandra E., Boeve, Bradley F., Bohannan, Ryan C., Brett, Francesca, Brunetti, Maura, Caraway, Chad A., Palma, Jose-Alberto, Calvo, Andrea, Canosa, Antonio, Dickson, Dennis, Duyckaerts, Charles, Faber, Kelley, Ferman, Tanis, Flanagan, Margaret E., Floris, Gianluca, Foroud, Tatiana M., Fortea, Juan, Gan-Or, Ziv, Gentleman, Steve, Ghetti, Bernardino, Gibbs, Jesse Raphael, Goate, Alison, Goldstein, David, González-Aramburu, Isabel, Graff-Radford, Neill R., Hodges, Angela K., Hu, Heng-Chen, Hupalo, Daniel, Infante, Jon, Iranzo, Alex, Kaiser, Scott M., Kaufmann, Horacio, Keith, Julia, Kim, Ronald C., Klein, Gregory, Krüger, Rejko, Kukull, Walter, Kuzma, Amanda, Lage, Carmen, Lesage, Suzanne, Leverenz, James B., Logroscino, Giancarlo, Lopez, Grisel, Love, Seth, Mao, Qinwen, Marti, Maria Jose, Martinez-McGrath, Elisa, Masellis, Mario, Masliah, Eliezer, May, Patrick, McKeith, Ian, Mesulam, Marek-Marsel, Monuki, Edwin S., Newell, Kathy L., Norcliffe-Kaufmann, Lucy, Palmer, Laura, Perkins, Matthew, Pletnikova, Olga, Molina-Porcel, Laura, Reynolds, Regina H., Rodríguez-Rodríguez, Eloy, Rohrer, Jonathan D., Sanchez-Juan, Pascual, Scherzer, Clemens R., Serrano, Geidy E., Shakkottai, Vikram, Sidransky, Ellen, Tayebi, Nahid, Thomas, Alan J., Tilley, Bension S., Walton, Ronald L., Woltjer, Randy, Wszolek, Zbigniew K., Xiromerisiou, Georgia, Zecca, Chiara, Phatnani, Hemali, Kwan, Justin, Sareen, Dhruv, Broach, James R., Arcila-Londono, Ximena, Lee, Edward B., Shneider, Neil A., Fraenkel, Ernest, Zaitlen, Noah, Berry, James D., Malaspina, Andrea, Cox, Gregory A., Thompson, Leslie M., Finkbeiner, Steve, Dardiotis, Efthimios, Miller, Timothy M., Chandran, Siddharthan, Pal, Suvankar, Hornstein, Eran, MacGowan, Daniel J., Heiman-Patterson, Terry, Hammell, Molly G., Patsopoulos, Nikolaos.A., Butovsky, Oleg, Dubnau, Joshua, Nath, Avindra, Harms, Matt, Aronica, Eleonora, Poss, Mary, Phillips-Cremins, Jennifer, Crary, John, Atassi, Nazem, Lange, Dale J., Adams, Darius J., Stefanis, Leonidas, Gotkine, Marc, Babu, Suma, Raj, Towfique, Paganoni, Sabrina, Shalem, Ophir, Smith, Colin, Zhang, Bin, Harris, Brent, Broce, Iris, Drory, Vivian, Ravits, John, McMillan, Corey, Menon, Vilas, Wu, Lani, Altschuler, Steven, Amar, Khaled, Archibald, Neil, Bandmann, Oliver, Capps, Erica, Church, Alistair, Coebergh, Jan, Costantini, Alyssa, Critchley, Peter, Ghosh, Boyd CP., Hu, Michele T.M., Kobylecki, Christopher, Leigh, P. 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HLA-DQA1*05 Carriage Associated With Development of Anti-Drug Antibodies to Infliximab and Adalimumab in Patients With Crohn’s Disease

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Source: In Gastroenterology January 2020 158(1):189-199

Increased frequency of repeat expansion mutations across different populations

Authors: Ibañez, Kristina, Jadhav, Bharati, Zanovello, Matteo, Gagliardi, Delia, Clarkson, Christopher, Facchini, Stefano, Garg, Paras, Martin-Trujillo, Alejandro, Gies, Scott J., Galassi Deforie, Valentina, Dalmia, Anupriya, Hensman Moss, Davina J., Vandrovcova, Jana, Rocca, Clarissa, Moutsianas, Loukas, Marini-Bettolo, Chiara, Walker, Helen, Turner, Chris, Shoai, Maryam, Long, Jeffrey D., Fratta, Pietro, Langbehn, Douglas R., Tabrizi, Sarah J., Caulfield, Mark J., Cortese, Andrea, Escott-Price, Valentina, Hardy, John, Houlden, Henry, Sharp, Andrew J., Tucci, Arianna

Source: Nature Medicine; November 2024, Vol. 30 Issue: 11 p3357-3368, 12p

HLA-DQA1*05 Carriage Associated With Development of Anti-Drug Antibodies to Infliximab and Adalimumab in Patients With Crohn's Disease

Authors: Sazonovs, Aleksejs, Kennedy, Nicholas A., Moutsianas, Loukas, Heap, Graham A., Rice, Daniel L., Reppell, Mark, Bewshea, Claire M., Chanchlani, Neil, Walker, Gareth J., Perry, Mandy H., McDonald, Timothy J., Lees, Charlie W., Cummings, J.R. Fraser, Parkes, Miles, Mansfield, John C., Irving, Peter M., Barrett, Jeffrey C., McGovern, Dermot, Goodhand, James R., Anderson, Carl A., Ahmad, Tariq

Source: Gastroenterology. 158(1):189-199

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A Genomics England haplotype reference panel and imputation of UK Biobank

Authors: Shi, Sinan, Rubinacci, Simone, Hu, Sile, Moutsianas, Loukas, Stuckey, Alex, Need, Anna C., Palamara, Pier Francesco, Caulfield, Mark, Marchini, Jonathan, Myers, Simon

Source: Nature Genetics; September 2024, Vol. 56 Issue: 9 p1800-1803, 4p

Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy

Authors: Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Pereira, Mariana Buongermino, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Olinger, Eric, Wilson, Ian J., Orr, Sarah, Barroso-Gil, Miguel, Neatu, Ruxandra, Atan, Denize, Sayer, John A.

Source: In Genetics in Medicine Open 2024 2

Genetic Association in the HLA Region

Authors: Moutsianas, Loukas, Gutierrez-Achury, Javier

Source: Methods in molecular biology. 1793:111-134

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Simulation of Finnish Population History, Guided by Empirical Genetic Data, to Assess Power of Rare-Variant Tests in Finland

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Source: In The American Journal of Human Genetics 1 May 2014 94(5):710-720

Revisiting the Thrifty Gene Hypothesis via 65 Loci Associated with Susceptibility to Type 2 Diabetes

Authors: Ayub, Qasim, Moutsianas, Loukas, Chen, Yuan, Panoutsopoulou, Kalliope, Colonna, Vincenza, Pagani, Luca, Prokopenko, Inga, Ritchie, Graham R.S., Tyler-Smith, Chris, McCarthy, Mark I., Zeggini, Eleftheria, Xue, Yali

Source: In The American Journal of Human Genetics 6 February 2014 94(2):176-185

Whole-genome sequencing reveals host factors underlying critical COVID-19

Authors: Kousathanas, Athanasios, Pairo-Castineira, Erola, Rawlik, Konrad, Stuckey, Alex, Odhams, Christopher A., Walker, Susan, Russell, Clark D., Malinauskas, Tomas, Wu, Yang, Millar, Jonathan, Shen, Xia, Elliott, Katherine S., Griffiths, Fiona, Oosthuyzen, Wilna, Morrice, Kirstie, Keating, Sean, Wang, Bo, Rhodes, Daniel, Klaric, Lucija, Zechner, Marie, Parkinson, Nick, Siddiq, Afshan, Goddard, Peter, Donovan, Sally, Maslove, David, Nichol, Alistair, Semple, Malcolm G., Zainy, Tala, Maleady-Crowe, Fiona, Todd, Linda, Salehi, Shahla, Knight, Julian, Elgar, Greg, Chan, Georgia, Arumugam, Prabhu, Patch, Christine, Rendon, Augusto, Bentley, David, Kingsley, Clare, Kosmicki, Jack A., Horowitz, Julie E., Baras, Aris, Abecasis, Goncalo R., Ferreira, Manuel A. R., Justice, Anne, Mirshahi, Tooraj, Oetjens, Matthew, Rader, Daniel J., Ritchie, Marylyn D., Verma, Anurag, Fowler, Tom A., Shankar-Hari, Manu, Summers, Charlotte, Hinds, Charles, Horby, Peter, Ling, Lowell, McAuley, Danny, Montgomery, Hugh, Openshaw, Peter J. M., Elliott, Paul, Walsh, Timothy, Tenesa, Albert, Fawkes, Angie, Murphy, Lee, Rowan, Kathy, Ponting, Chris P., Vitart, Veronique, Wilson, James F., Yang, Jian, Bretherick, Andrew D., Scott, Richard H., Hendry, Sara Clohisey, Moutsianas, Loukas, Law, Andy, Caulfield, Mark J., Baillie, J. Kenneth

Source: Nature; 20240101, Issue: Preprints p1-16, 16p