A homozygous missense variant in CHRM3 associated with familial urinary bladder disease

por Beaman, Glenda M., Galatà, Gabriella, Teik, Keng W., Urquhart, Jill E., Aishah, Ali, O'Sullivan, James, Bhaskar, Sanjeev S., Wood, Katherine A., Thomas, Huw B., O'Keefe, Raymond T., Woolf, Adrian S., Stuart, Helen M., Newman, William G.
Publicado 2019

Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations

por Madhu, Rajesh, Beaman, Glenda M., Chandler, Kate E., O'Sullivan, James, Urquhart, Jill E., Khan, Naz, Martindale, Elizabeth, Briggs, Tracy A., Clayton-Smith, Jill, Higgs, Jenny, Batra, Gauri, Kerr, Bronwyn, Woolf, Adrian S., Newman, William G.
Publicado 2020

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature

por Taylor, Rachel L., Handley, Mark T., Waller, Sarah, Campbell, Christopher, Urquhart, Jill, Meynert, Alison M., Ellingford, Jamie M., Donnelly, Deirdre, Wilcox, Gisela, Lloyd, I. Chris, Mundy, Helen, FitzPatrick, David R., Deshpande, Charu, Clayton-Smith, Jill, Black, Graeme C.
Publicado 2017

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

por Ratbi, Ilham, Falkenberg, Kim D., Sommen, Manou, Al-Sheqaih, Nada, Guaoua, Soukaina, Vandeweyer, Geert, Urquhart, Jill E., Chandler, Kate E., Williams, Simon G., Roberts, Neil A., El Alloussi, Mustapha, Black, Graeme C., Ferdinandusse, Sacha, Ramdi, Hind, Heimler, Audrey, Fryer, Alan, Lynch, Sally-Ann, Cooper, Nicola, Ong, Kai Ren, Smith, Claire E.L., Inglehearn, Christopher F., Mighell, Alan J., Elcock, Claire, Poulter, James A., Tischkowitz, Marc, Davies, Sally J., Sefiani, Abdelaziz, Mironov, Aleksandr A., Newman, William G., Waterham, Hans R., Van Camp, Guy
Publicado 2015

Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice

por Garnai, Sarah J., Brinkmeier, Michelle L., Emery, Ben, Aleman, Tomas S., Pyle, Louise C., Veleva-Rotse, Biliana, Sisk, Robert A., Rozsa, Frank W., Ozel, Ayse Bilge, Li, Jun Z., Moroi, Sayoko E., Archer, Steven M., Lin, Cheng-mao, Sheskey, Sarah, Wiinikka-Buesser, Laurel, Eadie, James, Urquhart, Jill E., Black, Graeme C.M., Othman, Mohammad I., Boehnke, Michael, Sullivan, Scot A., Skuta, Gregory L., Pawar, Hemant S., Katz, Alexander E., Huryn, Laryssa A., Hufnagel, Robert B., Camper, Sally A., Richards, Julia E., Prasov, Lev
Publicado 2019

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

por Hochberg, Irit, Demain, Leigh A.M., Richer, Julie, Thompson, Kyle, Urquhart, Jill E., Rea, Alessandro, Pagarkar, Waheeda, Rodríguez-Palmero, Agustí, Schlüter, Agatha, Verdura, Edgard, Pujol, Aurora, Quijada-Fraile, Pilar, Amberger, Albert, Deutschmann, Andrea J., Demetz, Sandra, Gillespie, Meredith, Belyantseva, Inna A., McMillan, Hugh J., Barzik, Melanie, Beaman, Glenda M., Motha, Reeya, Ng, Kah Ying, O’Sullivan, James, Williams, Simon G., Bhaskar, Sanjeev S., Lawrence, Isabella R., Jenkinson, Emma M., Zambonin, Jessica L., Blumenfeld, Zeev, Yalonetsky, Sergey, Oerum, Stephanie, Rossmanith, Walter, Yue, Wyatt W., Zschocke, Johannes, Munro, Kevin J., Battersby, Brendan J., Friedman, Thomas B., Taylor, Robert W., O’Keefe, Raymond T., Newman, William G.
Publicado 2021

Characterising a homozygous two‐exon deletion in UQCRH: comparing human and mouse phenotypes

por Vidali, Silvia, Gerlini, Raffaele, Thompson, Kyle, Urquhart, Jill E, Meisterknecht, Jana, Aguilar‐Pimentel, Juan Antonio, Amarie, Oana V, Becker, Lore, Breen, Catherine, Calzada‐Wack, Julia, Chhabra, Nirav F, Cho, Yi‐Li, da Silva‐Buttkus, Patricia, Feichtinger, René G, Gampe, Kristine, Garrett, Lillian, Hoefig, Kai P, Hölter, Sabine M, Jameson, Elisabeth, Klein‐Rodewald, Tanja, Leuchtenberger, Stefanie, Marschall, Susan, Mayer‐Kuckuk, Philipp, Miller, Gregor, Oestereicher, Manuela A, Pfannes, Kristina, Rathkolb, Birgit, Rozman, Jan, Sanders, Charlotte, Spielmann, Nadine, Stoeger, Claudia, Szibor, Marten, Treise, Irina, Walter, John H, Wurst, Wolfgang, Mayr, Johannes A, Fuchs, Helmut, Gärtner, Ulrich, Wittig, Ilka, Taylor, Robert W, Newman, William G, Prokisch, Holger, Gailus‐Durner, Valerie, Hrabě de Angelis, Martin
Publicado 2021

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

por Jenkinson, Emma M., Rodero, Mathieu P., Kasher, Paul R., Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C., Rose, Yohann, Kershaw, Christopher J., Urquhart, Jill E., Williams, Simon G., Bhaskar, Sanjeev S., O’Sullivan, James, Baerlocher, Gabriela M., Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W., Barnicoat, Angela J., Battini, Roberta, Berger, Andrea, Blair, Edward M., Brunstrom-Hernandez, Janice E., Buckard, Johannes A., Cassiman, David M., Caumes, Rosaline, Cordelli, Duccio M., De Waele, Liesbeth M., Fay, Alexander J., Ferreira, Patrick, Fletcher, Nicholas A., Fryer, Alan E., Goel, Himanshu, Hemingway, Cheryl A., Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G., Lourenço, Charles M., Malpas, Timothy J., Mehta, Sarju G., Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Geraldine, Schiffmann, Raphael, Sherr, Elliott H., Sinnathuray, Kanaga R., Soh, Calvin, Stewart, Helen S., Stone, John, Van Esch, Hilde, Van Mol, Christine E.G., Vanderver, Adeline, Wakeling, Emma L., Whitney, Andrea, Pavitt, Graham D., Griffiths-Jones, Sam, Rice, Gillian I., Revy, Patrick, van der Knaap, Marjo S., Livingston, John H., O’Keefe, Raymond T., Crow, Yanick J.
Publicado 2016