Single Nucleotide Polymorphism (SNP) Arrays and Unexpected Consanguinity: Considerations for Clinicians When Returning Results to Families

por Delgado, Fernanda, Tabor, Holly K., Chow, Penny M., Conta, Jessie H., Feldman, Kenneth W., Tsuchiya, Karen D., Beck, Anita E.
Publicado 2014

Silent aspiration in infants with Prader–Willi syndrome identified by videofluoroscopic swallow study

por Salehi, Parisa, Stafford, Holly J., Glass, Robin P., Leavitt, Anne, Beck, Anita E., McAfee, Amber, Ambartsumyan, Lusine, Chen, Maida
Publicado 2017

Professional Responsibilities Regarding the Provision, Publication and Dissemination of Patient Phenotypes in the Context of Clinical Genetic and Genomic Testing: Points to Conside...

por Bush, Lynn W., Beck, Anita E., Biesecker, Leslie G., Evans, James P., Hamosh, Ada, Holm, Ingrid A., Martin, Christa L., Richards, C. Sue, Rehm, Heidi L.
Publicado 2018

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

por Ng, Sarah B., Bigham, Abigail W., Buckingham, Kati J., Hannibal, Mark C., McMillin, Margaret, Gildersleeve, Heidi, Beck, Anita E., Tabor, Holly K., Cooper, Greg M., Mefford, Heather C., Lee, Choli, Turner, Emily H., Smith, Josh D., Rieder, Mark J., Yoshiura, Koh-ichiro, Matsumoto, Naomichi, Ohta, Tohru, Niikawa, Norio, Nickerson, Deborah A., Bamshad, Michael J., Shendure, Jay
Publicado 2010

Identification of novel candidate disease genes from de novo exonic copy number variants

por Gambin, Tomasz, Yuan, Bo, Bi, Weimin, Liu, Pengfei, Rosenfeld, Jill A., Coban-Akdemir, Zeynep, Pursley, Amber N., Nagamani, Sandesh C. S., Marom, Ronit, Golla, Sailaja, Dengle, Lauren, Petrie, Heather G., Matalon, Reuben, Emrick, Lisa, Proud, Monica B., Treadwell-Deering, Diane, Chao, Hsiao-Tuan, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Bernes, Saunder, Roeder, Elizabeth R., Nugent, Kimberly M., Bader, Patricia I., Bellus, Gary, Cummings, Michael, Northrup, Hope, Ashfaq, Myla, Westman, Rachel, Wildin, Robert, Beck, Anita E., Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian P., Walkiewicz, Magdalena, Yang, Yaping, Kang, Sung-Hae L., Lalani, Seema R., Bacino, Carlos A., Beaudet, Arthur L., Breman, Amy M., Smith, Janice L., Cheung, Sau Wai, Lupski, James R., Patel, Ankita, Shaw, Chad A., Stankiewicz, Paweł
Publicado 2017