Identifying biological pathways that underlie primordial short stature using network analysis

by Hanson, Dan, Stevens, Adam, Murray, Philip G, Black, Graeme C M, Clayton, Peter E
Published 2014

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

by Rohrbach, Marianne, Spencer, Helen L., Porter, Louise F., Burkitt-Wright, Emma M.M., Bürer, Céline, Janecke, Andreas, Bakshi, Madhura, Sillence, David, Al-Hussain, Hailah, Baumgartner, Matthias, Steinmann, Beat, Black, Graeme C.M., Manson, Forbes D.C., Giunta, Cecilia
Published 2013

Molecular findings from 537 individuals with inherited retinal disease

by Ellingford, Jamie M, Barton, Stephanie, Bhaskar, Sanjeev, O'Sullivan, James, Williams, Simon G, Lamb, Janine A, Panda, Binay, Sergouniotis, Panagiotis I, Gillespie, Rachel L, Daiger, Stephen P, Hall, Georgina, Gale, Theodora, Lloyd, I Christopher, Bishop, Paul N, Ramsden, Simon C, Black, Graeme C M
Published 2016

Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial

by MacLaren, Robert E, Groppe, Markus, Barnard, Alun R, Cottriall, Charles L, Tolmachova, Tanya, Seymour, Len, Clark, K Reed, During, Matthew J, Cremers, Frans P M, Black, Graeme C M, Lotery, Andrew J, Downes, Susan M, Webster, Andrew R, Seabra, Miguel C
Published 2014

Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin

by Ravesh, Zeinab, El Asrag, Mohammed E., Weisschuh, Nicole, McKibbin, Martin, Reuter, Peggy, Watson, Christopher M., Baumann, Britta, Poulter, James A., Sajid, Sundus, Panagiotou, Evangelia S., O’Sullivan, James, Abdelhamed, Zakia, Bonin, Michael, Soltanifar, Mehdi, Black, Graeme C.M., Din, Muhammad Amin-ud, Toomes, Carmel, Ansar, Muhammad, Inglehearn, Chris F., Wissinger, Bernd, Ali, Manir
Published 2015

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease

by Ellingford, Jamie M., Barton, Stephanie, Bhaskar, Sanjeev, Williams, Simon G., Sergouniotis, Panagiotis I., O'Sullivan, James, Lamb, Janine A., Perveen, Rahat, Hall, Georgina, Newman, William G., Bishop, Paul N., Roberts, Stephen A., Leach, Rick, Tearle, Rick, Bayliss, Stuart, Ramsden, Simon C., Nemeth, Andrea H., Black, Graeme C.M.
Published 2016

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

by Köhler, Sebastian, Doelken, Sandra C., Mungall, Christopher J., Bauer, Sebastian, Firth, Helen V., Bailleul-Forestier, Isabelle, Black, Graeme C. M., Brown, Danielle L., Brudno, Michael, Campbell, Jennifer, FitzPatrick, David R., Eppig, Janan T., Jackson, Andrew P., Freson, Kathleen, Girdea, Marta, Helbig, Ingo, Hurst, Jane A., Jähn, Johanna, Jackson, Laird G., Kelly, Anne M., Ledbetter, David H., Mansour, Sahar, Martin, Christa L., Moss, Celia, Mumford, Andrew, Ouwehand, Willem H., Park, Soo-Mi, Riggs, Erin Rooney, Scott, Richard H., Sisodiya, Sanjay, Vooren, Steven Van, Wapner, Ronald J., Wilkie, Andrew O. M., Wright, Caroline F., Vulto-van Silfhout, Anneke T., de Leeuw, Nicole, de Vries, Bert B. A., Washingthon, Nicole L., Smith, Cynthia L., Westerfield, Monte, Schofield, Paul, Ruef, Barbara J., Gkoutos, Georgios V., Haendel, Melissa, Smedley, Damian, Lewis, Suzanna E., Robinson, Peter N.
Published 2014