Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

Autor Watson, Christopher M., Crinnion, Laura A., Berry, Ian R., Harrison, Sally M., Lascelles, Carolina, Antanaviciute, Agne, Charlton, Ruth S., Dobbie, Angus, Carr, Ian M., Bonthron, David T.
Vydáno v BMC Med Genet (2016)

Rapid Visualisation of Microarray Copy Number Data for the Detection of Structural Variations Linked to a Disease Phenotype

Autor Carr, Ian M., Diggle, Christine P., Khan, Kamron, Inglehearn, Chris, McKibbin, Martin, Bonthron, David T., Markham, Alexander F., Anwar, Rashida, Dobbie, Angus, Pena, Sergio D.J., Ali, Manir
Vydáno 2012

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome

Autor Thompson, Dorothy A, Feather, Sally, Stanescu, Horia C, Freudenthal, Bernard, Zdebik, Anselm A, Warth, Richard, Ognjanovic, Milos, Hulton, Sally A, Wassmer, Evangeline, van't Hoff, William, Russell-Eggitt, Isabelle, Dobbie, Angus, Sheridan, Eamonn, Kleta, Robert, Bockenhauer, Detlef
Vydáno 2011

SAMS, a Syndrome of Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Is a Unique Neurocristopathy Caused by Mutations in Goosecoid

Autor Parry, David A., Logan, Clare V., Stegmann, Alexander P.A., Abdelhamed, Zakia A., Calder, Alistair, Khan, Shabana, Bonthron, David T., Clowes, Virginia, Sheridan, Eamonn, Ghali, Neeti, Chudley, Albert E., Dobbie, Angus, Stumpel, Constance T.R.M., Johnson, Colin A.
Vydáno 2013

SURF1 deficiency: a multi-centre natural history study

Autor Wedatilake, Yehani, Brown, Ruth M, McFarland, Robert, Yaplito-Lee, Joy, Morris, Andrew A M, Champion, Mike, Jardine, Phillip E, Clarke, Antonia, Thorburn, David R, Taylor, Robert W, Land, John M, Forrest, Katharine, Dobbie, Angus, Simmons, Louise, Aasheim, Erlend T, Ketteridge, David, Hanrahan, Donncha, Chakrapani, Anupam, Brown, Garry K, Rahman, Shamima
Vydáno 2013

Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities

Autor Boudin, Eveline, de Jong, Tjeerd R., Prickett, Tim C.R., Lapauw, Bruno, Toye, Kaatje, Van Hoof, Viviane, Luyckx, Ilse, Verstraeten, Aline, Heymans, Hugo S.A., Dulfer, Eelco, Van Laer, Lut, Berry, Ian R., Dobbie, Angus, Blair, Ed, Loeys, Bart, Espiner, Eric A., Wit, Jan M., Van Hul, Wim, Houpt, Peter, Mortier, Geert R.
Vydáno v Am J Hum Genet (2018)

Mutations in CKAP2L, the Human Homolog of the Mouse Radmis Gene, Cause Filippi Syndrome

Autor Hussain, Muhammad Sajid, Battaglia, Agatino, Szczepanski, Sandra, Kaygusuz, Emrah, Toliat, Mohammad Reza, Sakakibara, Shin-ichi, Altmüller, Janine, Thiele, Holger, Nürnberg, Gudrun, Moosa, Shahida, Yigit, Gökhan, Beleggia, Filippo, Tinschert, Sigrid, Clayton-Smith, Jill, Vasudevan, Pradeep, Urquhart, Jill E., Donnai, Dian, Fryer, Alan, Percin, Ferda, Brancati, Francesco, Dobbie, Angus, Śmigiel, Robert, Gillessen-Kaesbach, Gabriele, Wollnik, Bernd, Noegel, Angelika Anna, Newman, William G., Nürnberg, Peter
Vydáno v Am J Hum Genet (2014)

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations

Autor Bockenhauer, Detlef, Feather, Sally, Stanescu, Horia C., Bandulik, Sascha, Zdebik, Anselm A., Reichold, Markus, Tobin, Jonathan, Lieberer, Evelyn, Sterner, Christina, Landoure, Guida, Arora, Ruchi, Sirimanna, Tony, Thompson, Dorothy, Cross, J. Helen, Hoff, William van’t, Masri, Omar Al, Tullus, Kjell, Yeung, Stella, Anikster, Yair, Klootwijk, Enriko, Hubank, Mike, Dillon, Michael J., Heitzmann, Dirk, Arcos-Burgos, Mauricio, Knepper, Mark A., Dobbie, Angus, Gahl, William A., Warth, Richard, Sheridan, Eamonn, Kleta, Robert
Vydáno 2009

Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2

Autor Kennedy, Hannah, Haack, Tobias B., Hartill, Verity, Mataković, Lavinija, Baumgartner, E. Regula, Potter, Howard, Mackay, Richard, Alston, Charlotte L., O’Sullivan, Siobhan, McFarland, Robert, Connolly, Grainne, Gannon, Caroline, King, Richard, Mead, Scott, Crozier, Ian, Chan, Wandy, Florkowski, Chris M., Sage, Martin, Höfken, Thomas, Alhaddad, Bader, Kremer, Laura S., Kopajtich, Robert, Feichtinger, René G., Sperl, Wolfgang, Rodenburg, Richard J., Minet, Jean Claude, Dobbie, Angus, Strom, Tim M., Meitinger, Thomas, George, Peter M., Johnson, Colin A., Taylor, Robert W., Prokisch, Holger, Doudney, Kit, Mayr, Johannes A.
Vydáno v Am J Hum Genet (2016)