Autosomal Dominant Pseudohypoaldosteronism Type 1 in an Infant with Salt Wasting Crisis Associated with Urinary Tract Infection and Obstructive Uropathy

di Bowden, Sasigarn A., Cozzi, Corin, Hickey, Scott E., Thrush, Devon Lamb, Astbury, Caroline, Nuthakki, Sushma
Pubblicazione 2013

Variability in pathogenicity prediction programs: impact on clinical diagnostics

di Walters-Sen, Lauren C, Hashimoto, Sayaka, Thrush, Devon Lamb, Reshmi, Shalini, Gastier-Foster, Julie M, Astbury, Caroline, Pyatt, Robert E
Pubblicato in Mol Genet Genomic Med (2015)

Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities

di Ballif, Blake C., Theisen, Aaron, Rosenfeld, Jill A., Traylor, Ryan N., Gastier-Foster, Julie, Thrush, Devon Lamb, Astbury, Caroline, Bartholomew, Dennis, McBride, Kim L., Pyatt, Robert E., Shane, Kate, Smith, Wendy E., Banks, Valerie, Gallentine, William B., Brock, Pamela, Rudd, M. Katharine, Adam, Margaret P., Keene, Julia A., Phillips, John A., Pfotenhauer, Jean P., Gowans, Gordon C., Stankiewicz, Pawel, Bejjani, Bassem A., Shaffer, Lisa G.
Pubblicazione 2010

Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

di Talkowski, Michael E., Mullegama, Sureni V., Rosenfeld, Jill A., van Bon, Bregje W.M., Shen, Yiping, Repnikova, Elena A., Gastier-Foster, Julie, Thrush, Devon Lamb, Kathiresan, Sekar, Ruderfer, Douglas M., Chiang, Colby, Hanscom, Carrie, Ernst, Carl, Lindgren, Amelia M., Morton, Cynthia C., An, Yu, Astbury, Caroline, Brueton, Louise A., Lichtenbelt, Klaske D., Ades, Lesley C., Fichera, Marco, Romano, Corrado, Innis, Jeffrey W., Williams, Charles A., Bartholomew, Dennis, Van Allen, Margot I., Parikh, Aditi, Zhang, Lilei, Wu, Bai-Lin, Pyatt, Robert E., Schwartz, Stuart, Shaffer, Lisa G., de Vries, Bert B.A., Gusella, James F., Elsea, Sarah H.
Pubblicazione 2011

Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

di Beunders, Gea, Voorhoeve, Els, Golzio, Christelle, Pardo, Luba M., Rosenfeld, Jill A., Talkowski, Michael E., Simonic, Ingrid, Lionel, Anath C., Vergult, Sarah, Pyatt, Robert E., van de Kamp, Jiddeke, Nieuwint, Aggie, Weiss, Marjan M., Rizzu, Patrizia, Verwer, Lucilla E.N.I., van Spaendonk, Rosalina M.L., Shen, Yiping, Wu, Bai-lin, Yu, Tingting, Yu, Yongguo, Chiang, Colby, Gusella, James F., Lindgren, Amelia M., Morton, Cynthia C., van Binsbergen, Ellen, Bulk, Saskia, van Rossem, Els, Vanakker, Olivier, Armstrong, Ruth, Park, Soo-Mi, Greenhalgh, Lynn, Maye, Una, Neill, Nicholas J., Abbott, Kristin M., Sell, Susan, Ladda, Roger, Farber, Darren M., Bader, Patricia I., Cushing, Tom, Drautz, Joanne M., Konczal, Laura, Nash, Patricia, de Los Reyes, Emily, Carter, Melissa T., Hopkins, Elizabeth, Marshall, Christian R., Osborne, Lucy R., Gripp, Karen W., Thrush, Devon Lamb, Hashimoto, Sayaka, Gastier-Foster, Julie M., Astbury, Caroline, Ylstra, Bauke, Meijers-Heijboer, Hanne, Posthuma, Danielle, Menten, Björn, Mortier, Geert, Scherer, Stephen W., Eichler, Evan E., Girirajan, Santhosh, Katsanis, Nicholas, Groffen, Alexander J., Sistermans, Erik A.
Pubblicazione 2013