Preclinical alterations in cardiac energetics amongst sarcomere mutation carriers in hypertrophic cardiomyopathy

by Lloyd, Rachael, Grover, Suchi, Parnham, Susie F, Lou, Pey Wen, Bradbrook, Craig, Yeates, Laura, Correnti, Gemma, Haan, Eric, Atherton, John J, Semsarian, Christopher, Selvanayagam, Joseph
Published 2015

TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families

by Andreucci, Elena, Aftimos, Salim, Alcausin, Melanie, Haan, Eric, Hunter, Warwick, Kannu, Peter, Kerr, Bronwyn, McGillivray, George, Gardner, RJ McKinlay, Patricelli, Maria G, Sillence, David, Thompson, Elizabeth, Zacharin, Margaret, Zankl, Andreas, Lamandé, Shireen R, Savarirayan, Ravi
Published 2011

FRA2A Is a CGG Repeat Expansion Associated with Silencing of AFF3

by Metsu, Sofie, Rooms, Liesbeth, Rainger, Jacqueline, Taylor, Martin S., Bengani, Hemant, Wilson, David I., Chilamakuri, Chandra Sekhar Reddy, Morrison, Harris, Vandeweyer, Geert, Reyniers, Edwin, Douglas, Evelyn, Thompson, Geoffrey, Haan, Eric, Gecz, Jozef, FitzPatrick, David R., Kooy, R. Frank
Published 2014

C9ORF72 Repeat Expansion in Australian and Spanish Frontotemporal Dementia Patients

by Dobson-Stone, Carol, Hallupp, Marianne, Loy, Clement T., Thompson, Elizabeth M., Haan, Eric, Sue, Carolyn M., Panegyres, Peter K., Razquin, Cristina, Seijo-Martínez, Manuel, Rene, Ramon, Gascon, Jordi, Campdelacreu, Jaume, Schmoll, Birgit, Volk, Alexander E., Brooks, William S., Schofield, Peter R., Pastor, Pau, Kwok, John B. J.
Published 2013

Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

by Grozeva, Detelina, Carss, Keren, Spasic‐Boskovic, Olivera, Tejada, Maria‐Isabel, Gecz, Jozef, Shaw, Marie, Corbett, Mark, Haan, Eric, Thompson, Elizabeth, Friend, Kathryn, Hussain, Zaamin, Hackett, Anna, Field, Michael, Renieri, Alessandra, Stevenson, Roger, Schwartz, Charles, Floyd, James A.B., Bentham, Jamie, Cosgrove, Catherine, Keavney, Bernard, Bhattacharya, Shoumo, Hurles, Matthew, Raymond, F. Lucy
Published 2015

Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource

by Mann, Graham J, Thorne, Heather, Balleine, Rosemary L, Butow, Phyllis N, Clarke, Christine L, Edkins, Edward, Evans, Gerda M, Fereday, Sián, Haan, Eric, Gattas, Michael, Giles, Graham G, Goldblatt, Jack, Hopper, John L, Kirk, Judy, Leary, Jennifer A, Lindeman, Geoffrey, Niedermayr, Eveline, Phillips, Kelly-Anne, Picken, Sandra, Pupo, Gulietta M, Saunders, Christobel, Scott, Clare L, Spurdle, Amanda B, Suthers, Graeme, Tucker, Kathy, Chenevix-Trench, Georgia
Published 2006

Refining analyses of copy number variation identifies specific genes associated with developmental delay

by Coe, Bradley P., Witherspoon, Kali, Rosenfeld, Jill A., van Bon, Bregje W.M., Vulto-van Silfhout, Anneke T., Bosco, Paolo, Friend, Kathryn L., Baker, Carl, Buono, Serafino, Vissers, Lisenka E.L.M., Schuurs-Hoeijmakers, Janneke H., Hoischen, Alex, Pfundt, Rolph, Krumm, Nik, Carvill, Gemma L., Li, Deana, Amaral, David, Brown, Natasha, Lockhart, Paul J., Scheffer, Ingrid E, Alberti, Antonino, Shaw, Marie, Pettinato, Rosa, Tervo, Raymond, de Leeuw, Nicole, Reijnders, Margot R.F., Torchia, Beth S., Peeters, Hilde, O'Roak, Brian J., Fichera, Marco, Hehir-Kwa, Jayne Y., Shendure, Jay, Mefford, Heather C., Haan, Eric, Gécz, Jozef, de Vries, Bert B.A., Romano, Corrado, Eichler, Evan E.
Published 2014