PSTPIP1-associated myeloid-related proteinaemia inflammatory (PAMI) syndrome; a case presenting as a perinatal event with early central nervous system involvement?

por Whiteside, Bethany Gillies, Titheradge, Hannah, Al-Abadi, Eslam
Publicado 2022

Correction: PSTPIP1-associated myeloid-related proteinaemia inflammatory (PAMI) syndrome; a case presenting as a perinatal event with early central nervous system involvement?

por Whiteside, Bethany Gillies, Titheradge, Hannah, Al-Abadi, Eslam
Publicado 2023

A homozygous variant disrupting the PIGH start‐codon is associated with developmental delay, epilepsy, and microcephaly

por Pagnamenta, Alistair T., Murakami, Yoshiko, Anzilotti, Consuelo, Titheradge, Hannah, Oates, Adam J., Morton, Jenny, Kinoshita, Taroh, Kini, Usha, Taylor, Jenny C.
Publicado 2018

OTULIN protects the liver against cell death, inflammation, fibrosis, and cancer

por Damgaard, Rune Busk, Jolin, Helen E., Allison, Michael E. D., Davies, Susan E., Titheradge, Hannah L., McKenzie, Andrew N. J., Komander, David
Publicado 2020

Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL

por Morgan, Neil V, Yngvadottir, Bryndis, O’Driscoll, Mary, Clark, Graeme R, Walsh, Diana, Martin, Ezequiel, Tee, Louise, Reid, Evan, Titheradge, Hannah L, Maher, Eamonn R
Publicado 2021

The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity

por Damgaard, Rune Busk, Walker, Jennifer A., Marco-Casanova, Paola, Morgan, Neil V., Titheradge, Hannah L., Elliott, Paul R., McHale, Duncan, Maher, Eamonn R., McKenzie, Andrew N.J., Komander, David
Publicado 2016

Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression

por Rocha, Nuno, Bulger, David A, Frontini, Andrea, Titheradge, Hannah, Gribsholt, Sigrid Bjerge, Knox, Rachel, Page, Matthew, Harris, Julie, Payne, Felicity, Adams, Claire, Sleigh, Alison, Crawford, John, Gjesing, Anette Prior, Bork-Jensen, Jette, Pedersen, Oluf, Barroso, Inês, Hansen, Torben, Cox, Helen, Reilly, Mary, Rossor, Alex, Brown, Rebecca J, Taylor, Simeon I, McHale, Duncan, Armstrong, Martin, Oral, Elif A, Saudek, Vladimir, O’Rahilly, Stephen, Maher, Eamonn R, Richelsen, Bjørn, Savage, David B, Semple, Robert K
Publicado 2017

Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort

por Meester, Josephina A.N., Sukalo, Maja, Schröder, Kim C., Schanze, Denny, Baynam, Gareth, Borck, Guntram, Bramswig, Nuria C., Duman, Duygu, Gilbert‐Dussardier, Brigitte, Holder‐Espinasse, Muriel, Itin, Peter, Johnson, Diana S., Joss, Shelagh, Koillinen, Hannele, McKenzie, Fiona, Morton, Jenny, Nelle, Heike, Reardon, Willie, Roll, Claudia, Salih, Mustafa A., Savarirayan, Ravi, Scurr, Ingrid, Splitt, Miranda, Thompson, Elizabeth, Titheradge, Hannah, Travers, Colm P., Van Maldergem, Lionel, Whiteford, Margo, Wieczorek, Dagmar, Vandeweyer, Geert, Trembath, Richard, Van Laer, Lut, Loeys, Bart L., Zenker, Martin, Southgate, Laura, Wuyts, Wim
Publicado 2018

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

por Cali, Elisa, Suri, Mohnish, Scala, Marcello, Ferla, Matteo P., Alavi, Shahryar, Faqeih, Eissa Ali, Bijlsma, Emilia K., Wigby, Kristen M., Baralle, Diana, Mehrjardi, Mohammad Y.V., Schwab, Jennifer, Platzer, Konrad, Steindl, Katharina, Hashem, Mais, Jones, Marilyn, Niyazov, Dmitriy M., Jacober, Jennifer, Littlejohn, Rebecca Okashah, Weis, Denisa, Zadeh, Neda, Rodan, Lance, Goldenberg, Alice, Lecoquierre, François, Dutra-Clarke, Marina, Horvath, Gabriella, Young, Dana, Orenstein, Naama, Bawazeer, Shahad, Vulto-van Silfhout, Anneke T., Herenger, Yvan, Dehghani, Mohammadreza, Seyedhassani, Seyed Mohammad, Bahreini, Amir, Nasab, Mahya E., Ercan-Sencicek, A. Gulhan, Firoozfar, Zahra, Movahedinia, Mojtaba, Efthymiou, Stephanie, Striano, Pasquale, Karimiani, Ehsan Ghayoor, Salpietro, Vincenzo, Taylor, Jenny C., Redman, Melody, Stegmann, Alexander P.A., Laner, Andreas, Abdel-Salam, Ghada, Li, Megan, Bengala, Mario, Müller, Amelie Johanna, Digilio, Maria C., Rauch, Anita, Gunel, Murat, Titheradge, Hannah, Schweitzer, Daniela N., Kraus, Alison, Valenzuela, Irene, McLean, Scott D., Phornphutkul, Chanika, Salih, Mustafa, Begtrup, Amber, Schnur, Rhonda E., Torti, Erin, Haack, Tobias B., Prada, Carlos E., Alkuraya, Fowzan S., Houlden, Henry, Maroofian, Reza
Publicado 2023

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

por Sheppard, Sarah E., Bryant, Laura, Wickramasekara, Rochelle N., Vaccaro, Courtney, Robertson, Brynn, Hallgren, Jodi, Hulen, Jason, Watson, Cynthia J., Faundes, Victor, Duffourd, Yannis, Lee, Pearl, Simon, M. Celeste, de la Cruz, Xavier, Padilla, Natália, Flores-Mendez, Marco, Akizu, Naiara, Smiler, Jacqueline, Pellegrino Da Silva, Renata, Li, Dong, March, Michael, Diaz-Rosado, Abdias, Peixoto de Barcelos, Isabella, Choa, Zhao Xiang, Lim, Chin Yan, Dubourg, Christèle, Journel, Hubert, Demurger, Florence, Mulhern, Maureen, Akman, Cigdem, Lippa, Natalie, Andrews, Marisa, Baldridge, Dustin, Constantino, John, van Haeringen, Arie, Snoeck-Streef, Irina, Chow, Penny, Hing, Anne, Graham, John M., Au, Margaret, Faivre, Laurence, Shen, Wei, Mao, Rong, Palumbos, Janice, Viskochil, David, Gahl, William, Tifft, Cynthia, Macnamara, Ellen, Hauser, Natalie, Miller, Rebecca, Maffeo, Jessica, Afenjar, Alexandra, Doummar, Diane, Keren, Boris, Arn, Pamela, Macklin-Mantia, Sarah, Meerschaut, Ilse, Callewaert, Bert, Reis, André, Zweier, Christiane, Brewer, Carole, Saggar, Anand, Smeland, Marie F., Kumar, Ajith, Elmslie, Frances, Deshpande, Charu, Nizon, Mathilde, Cogne, Benjamin, van Ierland, Yvette, Wilke, Martina, van Slegtenhorst, Marjon, Koudijs, Suzanne, Chen, Jin Yun, Dredge, David, Pier, Danielle, Wortmann, Saskia, Kamsteeg, Erik-Jan, Koch, Johannes, Haynes, Devon, Pollack, Lynda, Titheradge, Hannah, Ranguin, Kara, Denommé-Pichon, Anne-Sophie, Weber, Sacha, Pérez de la Fuente, Rubén, Sánchez del Pozo, Jaime, Lezana Rosales, Jose Miguel, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mei, Davide, Mari, Francesco, Guerrini, Renzo, Lespinasse, James, Tran Mau-Them, Frédéric, Philippe, Christophe, Dauriat, Benjamin, Raymond, Laure, Moutton, Sébastien, Cueto-González, Anna M., Tan, Tiong Yang, Mignot, Cyril, Grotto, Sarah, Renaldo, Florence, Drivas, Theodore G., Hennessy, Laura, Raper, Anna, Parenti, Ilaria, Kaiser, Frank J., Kuechler, Alma, Busk, Øyvind L., Islam, Lily, Siedlik, Jacob A., Henderson, Lindsay B., Juusola, Jane, Person, Richard, Schnur, Rhonda E., Vitobello, Antonio, Banka, Siddharth, Bhoj, Elizabeth J., Stessman, Holly A. F.
Publicado 2023