An Individual with Both MUTYH-Associated Polyposis and Lynch Syndrome Identified by Multi-Gene Hereditary Cancer Panel Testing: A Case Report

por Cohen, Stephanie A., Tan, Christopher A., Bisson, Ryan
Publicado 2016

Non-mosaic trisomy 22 and congenital heart surgery using the shared decision making model: a case report

por Phung, Vivien, Singh, Kathryn E., Danon, Saar, Tan, Christopher A., Dabagh, Sarah
Publicado 2023

A novel TTN deletion in a family with skeletal myopathy, facial weakness, and dilated cardiomyopathy

por Roggenbuck, Jennifer, Rich, Kelly, Morales, Ana, Tan, Christopher A., Eck, Douglas, King, Wendy, Vatta, Matteo, Winder, Thomas, Elsheikh, Bakri, Hershberger, Ray E., Kissel, John T.
Publicado 2019

SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals

por Bowen, B. Monica, Truty, Rebecca, Aradhya, Swaroop, Bristow, Sara L., Johnson, Britt A., Morales, Ana, Tan, Christopher A., Westbrook, M. Jody, Winder, Thomas L., Chavez, Juan C.
Publicado 2021

Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders

por Winder, Thomas L., Tan, Christopher A., Klemm, Sarah, White, Hannah, Westbrook, Jody M., Wang, James Z., Entezam, Ali, Truty, Rebecca, Nussbaum, Robert L., McNally, Elizabeth M., Aradhya, Swaroop
Publicado 2020

Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion

por Cheng, Yu-Wei, Tan, Christopher A, Minor, Agata, Arndt, Kelly, Wysinger, Latrice, Grange, Dorothy K, Kozel, Beth A, Robin, Nathaniel H, Waggoner, Darrel, Fitzpatrick, Carrie, Das, Soma, del Gaudio, Daniela
Publicado 2014

Novel heterozygous truncating titin variants affecting the A‐band are associated with cardiomyopathy and myopathy/muscular dystrophy

por Rich, Kelly A., Moscarello, Tia, Siskind, Carly, Brock, Guy, Tan, Christopher A., Vatta, Matteo, Winder, Thomas L., Elsheikh, Bakri, Vicini, Leah, Tucker, Brianna, Palettas, Marilly, Hershberger, Ray E., Kissel, John T., Morales, Ana, Roggenbuck, Jennifer
Publicado 2020