Investigating and Correcting Plasma DNA Sequencing Coverage Bias to Enhance Aneuploidy Discovery

Por Chandrananda, Dineika, Thorne, Natalie P., Ganesamoorthy, Devika, Bruno, Damien L., Benjamini, Yuval, Speed, Terence P., Slater, Howard R., Bahlo, Melanie
Publicado em 2014

A Genotype-First Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33

Por Traylor, Ryan N., Bruno, Damien L., Burgess, Trent, Wildin, Robert, Spencer, Anne, Ganesamoorthy, Devika, Amor, David J., Hunter, Matthew, Caplan, Michael, Rosenfeld, Jill A., Theisen, Aaron, Torchia, Beth S., Shaffer, Lisa G., Ballif, Blake C., Slater, Howard R.
Publicado em 2010

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

Por Calvo, Sarah E., Compton, Alison G., Hershman, Steven G., Lim, Sze Chern, Lieber, Daniel S., Tucker, Elena J., Laskowski, Adrienne, Garone, Caterina, Liu, Shangtao, Jaffe, David B., Christodoulou, John, Fletcher, Janice M., Bruno, Damien L, Goldblatt, Jack, DiMauro, Salvatore, Thorburn, David R., Mootha, Vamsi K.
Publicado em 2012

Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

Por Lim, Sze Chern, Friemel, Martin, Marum, Justine E., Tucker, Elena J., Bruno, Damien L., Riley, Lisa G., Christodoulou, John, Kirk, Edwin P., Boneh, Avihu, DeGennaro, Christine M., Springer, Michael, Mootha, Vamsi K., Rouault, Tracey A., Leimkühler, Silke, Thorburn, David R., Compton, Alison G.
Publicado em 2013

Identification of SOX3 as an XX male sex reversal gene in mice and humans

Por Sutton, Edwina, Hughes, James, White, Stefan, Sekido, Ryohei, Tan, Jacqueline, Arboleda, Valerie, Rogers, Nicholas, Knower, Kevin, Rowley, Lynn, Eyre, Helen, Rizzoti, Karine, McAninch, Dale, Goncalves, Joao, Slee, Jennie, Turbitt, Erin, Bruno, Damien, Bengtsson, Henrik, Harley, Vincent, Vilain, Eric, Sinclair, Andrew, Lovell-Badge, Robin, Thomas, Paul
Publicado em 2010

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

Por Calvo, Sarah E, Tucker, Elena J, Compton, Alison G, Kirby, Denise M, Crawford, Gabriel, Burtt, Noel P, Rivas, Manuel A, Guiducci, Candace, Bruno, Damien L, Goldberger, Olga A, Redman, Michelle C, Wiltshire, Esko, Wilson, Callum J, Altshuler, David, Gabriel, Stacey B, Daly, Mark J, Thorburn, David R, Mootha, Vamsi K
Publicado em 2010

Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression

Por Tucker, Elena J., Wanschers, Bas F. J., Szklarczyk, Radek, Mountford, Hayley S., Wijeyeratne, Xiaonan W., van den Brand, Mariël A. M., Leenders, Anne M., Rodenburg, Richard J., Reljić, Boris, Compton, Alison G., Frazier, Ann E., Bruno, Damien L., Christodoulou, John, Endo, Hitoshi, Ryan, Michael T., Nijtmans, Leo G., Huynen, Martijn A., Thorburn, David R.
Publicado em 2013