未登录 Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault- syndrome-spectrum phenotype Smith, Thomas B.; Kopajtich, Robert; Demain, Leigh A. M.; Rea, Alessandro; Thomas, Huw B.; Schiff, Manuel; Beetz, Christian; Joss, Shelagh; Conway, Gerard S.; Shukla, Anju; Yeole, Mayuri; Radhakrishnan, Periyasamy; Azzouz, Hatem; Ben Chehida, Amel; Elmaleh-Berges, Monique; Glasgow, Ruth I. C.; Thompson, Kyle; Olahova, Monika; He, Langping; Jenkinson, Emma M.; Jahic, Amir; Belyantseva, Inna A.; Barzik, Melanie; Urquhart, Jill E.; O'Sullivan, James; Williams, Simon G.; Bhaskar, Sanjeev S.; Carrera, Samantha; Blakes, Alexander J. M.; Banka, Siddharth; Yue, Wyatt W.; Ellingford, Jamie M.; Houlden, Henry; DDD Study, D. D. D.; Munro, Kevin J.; Friedman, Thomas B.; Taylor, Robert W.; Prokisch, Holger; Keefe, Raymond T.; Newman, William G. 分享 收藏
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome (vol 108, pg 1095, 2021) Pottie, Lore; Adamo, Christin S.; Beyens, Aude; Lutke, Steffen; Tapaneeyaphan, Piyanoot; De Clercq, Adelbert; Salmon, Phil L.; De Rycke, Riet; Gezdirici, Alper; Gulec, Elif Yilmaz; Khan, Naz; Urquhart, Jill E.; Newman, William G.; Metcalfe, Kay; Efthymiou, Stephanie; Maroofian, Reza; Anwar, Najwa; Maqbool, Shazia; Rahman, Fatima; Altweijri, Ikhlass; Alsaleh, Monerah; Abdullah, Sawsan Mohamed; Al-Owain, Mohammad; Hashem, Mais; Houlden, Henry; Alkuraya, Fowzan S.; Sips, Patrick; Sengle, Gerhard; Callewaert, Bert 分享 收藏
Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes 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, Rene G.; Gampe, Kristine; Garrett, Lillian; Hoefig, Kai P.; Hoelter, 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; Gaertner, Ulrich; Wittig, Ilka; Taylor, Robert W.; Newman, William G.; Prokisch, Holger; Gailus-Durner, Valerie; de Angelis, Martin Hrabe 分享 收藏
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations Hochberg, Irit; Demain, Leigh A. M.; Richer, Julie; Thompson, Kyle; Urquhart, Jill E.; Rea, Alessandro; Pagarkar, Waheeda; Rodriguez-Palmero, Agusti; Schluter, 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. 分享 收藏
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome Pottie, Lore; Adamo, Christin S.; Beyens, Aude; Luetke, Steffen; Tapaneeyaphan, Piyanoot; De Clercq, Adelbert; Salmon, Phil L.; De Rycke, Riet; Gezdirici, Alper; Gulec, Elif Yilmaz; Khan, Naz; Urquhart, Jill E.; Newman, William G.; Metcalfe, Kay; Efthymiou, Stephanie; Maroofian, Reza; Anwar, Najwa; Maqbool, Shazia; Rahman, Fatima; Altweijri, Ikhlass; Alsaleh, Monerah; Abdullah, Sawsan Mohamed; Al-Owain, Mohammad; Hashem, Mais; Houlden, Henry; Alkuraya, Fowzan S.; Sips, Patrick; Sengle, Gerhard; Callewaert, Bert 分享 收藏
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias (vol 103, pg 666, 2018) Helbig, Katherine L.; Lauerer, Robert J.; Bahr, Jacqueline C.; Souza, Ivana A.; Myers, Candace T.; Uysal, Betul; Schwarz, Niklas; Gandini, Maria A.; Huang, Sun; Keren, Boris; Mignot, Cyril; Afenjar, Alexandra; de Villemeur, Thierry Billette; Heron, Delphine; Nava, Caroline; Valence, Stephanie; Buratti, Julien; Fagerberg, Christina R.; Soerensen, Kristina P.; Kibaek, Maria; Kamsteeg, Erik-Jan; Koolen, David A.; Gunning, Boudewijn; Schelhaas, H. Jurgen; Kruer, Michael C.; Fox, Jordana; Bakhtiari, Somayeh; Jarrar, Randa; Padilla-Lopez, Sergio; Lindstrom, Kristin; Jin, Sheng Chih; Zeng, Xue; Bilguvar, Kaya; Papavasileiou, Antigone; Xing, Qinghe; Zhu, Changlian; Boysen, Katja; Vairo, Filippo; Lanpher, Brendan C.; Klee, Eric W.; Tillema, Jan-Mendelt; Payne, Eric T.; Cousin, Margot A.; Kruisselbrink, Teresa M.; Wick, Myra J.; Baker, Joshua; Haan, Eric; Smith, Nicholas; Sadeghpour, Azita; Davis, Erica E.; Katsanis, Nicholas; Corbett, Mark A.; MacLennan, Alastair H.; Gecz, Jozef; Biskup, Saskia; Goldmann, Eva; Rodan, Lance H.; Kichula, Elizabeth; Segal, Eric; Jackson, Kelly E.; Asamoah, Alexander; Dimmock, David; McCarrier, Julie; Botto, Lorenzo D.; Filloux, Francis; Tvrdik, Tatiana; Cascino, Gregory D.; Klingerman, Sherry; Neumann, Catherine; Wang, Raymond; Jacobsen, Jessie C.; Nolan, Melinda A.; Snell, Russell G.; Lehnert, Klaus; Sadleir, Lynette G.; Anderlid, Britt-Marie; Kvarnung, Malin; Guerrini, Renzo; Friez, Michael J.; Lyons, Michael J.; Leonhard, Jennifer; Kringlen, Gabriel; Casas, Kari; El Achkar, Christelle M.; Smith, Lacey A.; Rotenberg, Alexander; Poduri, Annapurna; Sanchis-Juan, Alba; Carss, Keren J.; Rankin, Julia; Zeman, Adam; Raymond, F. Lucy; Blyth, Moira; Kerr, Bronwyn; Ruiz, Karla; Urquhart, Jill; Hughes, Imelda; Banka, Siddharth; Hedrich, Ulrike B. S.; Scheffer, Ingrid E.; Helbig, Ingo; Zamponi, Gerald W.; Lerche, Holger; Mefford, Heather C. 分享 收藏
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy Boehm, Johann; Bulla, Monica; Urquhart, Jill E.; Malfatti, Edoardo; Williams, Simon G.; O'Sullivan, James; Szlauer, Anastazja; Koch, Catherine; Baranello, Giovanni; Mora, Marina; Ripolone, Michela; Violano, Raffaella; Moggio, Maurizio; Kingston, Helen; Dawson, Timothy; DeGoede, Christian G.; Nixon, John; Boland, Anne; Deleuze, Jean-Francois; Romero, Norma; Newman, William G.; Demaurex, Nicolas; Laporte, Jocelyn 分享 收藏
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts (vol 48, pg 1185, 2016) Jenkinson, Emma M.; Rodero, Mathieu P.; Kasher, Paul R.; Uggenti, Carolina; Oojageer, Anthony; Goosey, Laurence C.; Rose, Yoann; Kershaw, Christopher J.; Urquhart, Jill E.; Williams, Simon G.; Bhaskar, Sanjeev S.; O'Sullivan, James; Baerlocher, Gabriela M.; Haubitz, Monika; Aubert, Geraldine; Baranano, 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.; Lourenco, Charles M.; Malpas, Timothy J.; Mehta, Sarju G.; Metz, Imke; Naidu, Sakkubai; Ounap, Katrin; Panzer, Axel; Prabhakar, Prab; Quaghebeur, Gerardine; 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. 分享 收藏
Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature Taylor, Rachel L.; Handley, Mark T.; Waller, Sarah; Campbell, Christopher; Urquhart, Jill; Meynert, Alison M.; Ellingford, Jamie M.; Donnelly, Deirdre; Wilcox, Gisela; Lloyd, Chris; Mundy, Helen; FitzPatrick, David R.; Deshpande, Charu; Clayton-Smith, Jill; Black, Graeme C. 分享 收藏
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts Jenkinson, Emma M.; Rodero, Mathieu P.; Kasher, Paul R.; Uggenti, Carolina; Oojageer, Anthony; Goosey, Laurence C.; Rose, Yoann; Kershaw, Christopher J.; Urquhart, Jill E.; Williams, Simon G.; Bhaskar, Sanjeev S.; O'Sullivan, James; Baerlocher, Gabriela M.; Haubitz, Monika; Aubert, Geraldine; Baranano, 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.; Lourenco, Charles M.; Malpas, Timothy J.; Mehta, Sarju G.; Metz, Imke; Naidu, Sakkubai; Ounap, Katrin; Panzer, Axel; Prabhakar, Prab; Quaghebeur, Gerardine; Schiffmann, Raphael; Sherr, Elliott H.; Sinnathuray, Kanaga R.; Soh, Calvin; Stewart, Helen S.; Stone, John; Van Esch, Hide; 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. 分享 收藏
The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes Smith, Miriam J.; Urquhart, Jill E.; Harkness, Elaine F.; Miles, Emma K.; Bowers, Naomi L.; Byers, Helen J.; Bulman, Michael; Gokhale, Carolyn; Wallace, Andrew J.; Newman, William G.; Evans, D. Gareth 分享 收藏
Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract Gillespie, Rachel L.; Urquhart, Jill; Anderson, Beverley; Williams, Simon; Waller, Sarah; Ashworth, Jane; Biswas, Susmito; Jones, Simon; Stewart, Fiona; Lloyd, I. Christopher; Clayton-Smith, Jill; Black, Graeme C. M. 分享 收藏
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6 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.; Ecock, Claire; Poulter, James A.; Tischkowitz, Marc; Davies, Sally J.; Sefiani, Abdelaziz; Mironov, Aleksandr A.; Newman, William G.; Waterham, Hans R.; Van Camp, Guy 分享 收藏
MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma MiR-204负责与眼淋巴瘤相关的遗传性视网膜营养不良 Conte, Ivan; Hadfield, Kristen D.; Barbato, Sara; Carrella, Sabrina; Pizzo, Mariateresa; Bhat, Rajeshwari S.; Carissimo, Annamaria; Karali, Marianthi; Porter, Louise F.; Urquhart, Jill; Hateley, Sofie; O'Sullivan, James; Manson, Forbes D. C.; Neuhauss, Stephan C. F.; Banfi, Sandro; Black, Graeme C. M. 分享 收藏
Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis Banka, Siddharth; Cain, Stuart A.; Carim, Sabrya; Daly, Sarah B.; Urquhart, Jill E.; Erdem, Guenhan; Harris, Jade; Bottomley, Michelle; Donnai, Dian; Kerr, Bronwyn; Kingston, Helen; Superti-Furga, Andreas; Unger, Sheila; Ennis, Holly; Worthington, Jane; Herrick, Ariane L.; Merry, Catherine L. R.; Yue, Wyatt W.; Kielty, Cay M.; Newman, William G. 分享 收藏
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis Smith, Miriam J.; Isidor, Bertand; Beetz, Christian; Williams, Simon G.; Bhaskar, Sanjeev S.; Richer, Wilfrid; O'Sullivan, James; Anderson, Beverly; Daly, Sarah B.; Urquhart, Jill E.; Fryer, Alan; Rustad, Cecilie F.; Mills, Samantha J.; Samii, Amir; du Plessis, Daniel; Halliday, Dorothy; Barbarot, Sebastien; Bourdeaut, Franck; Newman, William G.; Evans, D. Gareth 分享 收藏
Abrogation of HMX1 Function Causes Rare Oculoauricular Syndrome Associated With Congenital Cataract, Anterior Segment Dysgenesis, and Retinal Dystrophy Gillespie, Rachel L.; Urquhart, Jill; Lovell, Simon C.; Biswas, Susmito; Parry, Neil R. A.; Schorderet, Daniel F.; Lloyd, I. Chris; Clayton-Smith, Jill; Black, Graeme C. 分享 收藏
Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome Wieczorek, Dagmar; Newman, William G.; Wieland, Thomas; Berulava, Tea; Kaffe, Maria; Falkenstein, Daniela; Beetz, Christian; Graf, Elisabeth; Schwarzmayr, Thomas; Douzgou, Sofia; Clayton-Smith, Jill; Daly, Sarah B.; Williams, Simon G.; Bhaskar, Sanjeev S.; Urquhart, Jill E.; Anderson, Beverley; O'Sullivan, James; Boute, Odile; Gundlach, Jasmin; Czeschik, Johanna Christina; van Essen, Anthonie J.; Hazan, Filiz; Park, Sarah; Hing, Anne; Kuechler, Alma; Lohmann, Dietmar R.; Ludwig, Kerstin U.; Mangold, Elisabeth; Steenpass, Laura; Zeschnigk, Michael; Lemke, Johannes R.; Lourenco, Charles Marques; Hehr, Ute; Prott, Eva-Christina; Waldenberger, Melanie; Boehmer, Anne C.; Horsthemke, Bernhard; O'Keefe, Raymond T.; Meitinger, Thomas; Bum, John; Luedecke, Hermann-Josef; Strom, Tim M. 分享 收藏
Mutations in CKAP2L, the Human Homo log of the Mouse Radmis Gene, Cause Filippi Syndrome Hussain, Muhammad Sajid; Battaglia, Agatino; Szczepanski, Sandra; Kaygusuz, Emrah; Toliat, Mohammad Reza; Sakakibara, Shin-ichi; Altmueller, Janine; Thiele, Holger; Nuernberg, Gudrun; Moosa, Shahida; Yigit, Goekhan; Beleggia, Filippo; Tinschert, Sigrid; Clayton-Smith, Jill; Vasudevan, Pradeep; Urquhart, Jill E.; Donnai, Dian; Fryer, Alan; Percin, Ferda; Brancati, Francesco; Dobbie, Angus; Smigiel, Robert; Gillessen-Kaesbach, Gabriele; Wollnik, Bernd; Noegel, Angelika Anna; Newman, William G.; Nuernberg, Peter 分享 收藏
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