Latinx attitudes, barriers, and experiences with genetic counseling and testing: A systematic review

por Dron, Heather A., Bucio, Daiana, Young, Jennifer L., Tabor, Holly K., Cho, Mildred K.
Publicado 2022

Pathways from Autism Spectrum Disorder (ASD) Diagnosis to Genetic Testing

por Barton, Krysta S., Tabor, Holly K., Starks, Helene, Garrison, Nanibaa’ A., Laurino, Mercy, Burke, Wylie
Publicado 2017

Perspectives of Rare Disease Social Media Group Participants on Engaging With Genetic Counselors: Mixed Methods Study

por Yabumoto, Megan, Miller, Emily, Rao, Anoushka, Tabor, Holly K, Ormond, Kelly E, Halley, Meghan C
Publicado 2022

Characterizing Moral Injury and Distress in US Military Surgeons Deployed to Far-Forward Combat Environments in Afghanistan and Iraq

por Ryu, Madeline Y., Martin, Matthew J., Jin, Alexander H., Tabor, Holly K., Wren, Sherry M.
Publicado 2023

“It seems like COVID-19 now is the only disease present on Earth”: living with a rare or undiagnosed disease during the COVID-19 pandemic

por Halley, Meghan C., Stanley, Talia, Maturi, Jay, Goldenberg, Aaron J., Bernstein, Jonathan A., Wheeler, Matthew T., Tabor, Holly K.
Publicado 2021

Beyond race: Recruitment of diverse participants in clinical genomics research for rare disease

por Young, Jennifer L., Halley, Meghan C., Anguiano, Beatriz, Fernandez, Liliana, Bernstein, Jonathan A., Wheeler, Matthew T., Tabor, Holly K.
Publicado 2022

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

My46: a web-based tool for self-guided management of genomic test results in research and clinical settings

por Tabor, Holly K., Jamal, Seema M., Yu, Joon-Ho, Crouch, Julia M., Shankar, Aditi G., Dent, Karin M., Anderson, Nick, Miller, Damon A., Futral, Brett T., Bamshad, Michael J.
Publicado 2016

Exome sequencing identifies the cause of a Mendelian disorder

por Ng, Sarah B., Buckingham, Kati J., Lee, Choli, Bigham, Abigail W., Tabor, Holly K., Dent, Karin M., Huff, Chad D., Shannon, Paul T., Jabs, Ethylin Wang, Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael J.
Publicado 2009

Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

por Chong, Jessica X., Yu, Joon-Ho, Lorentzen, Peter, Park, Karen M., Jamal, Seema M., Tabor, Holly K., Rauch, Anita, Saenz, Margarita Sifuentes, Boltshauser, Eugen, Patterson, Karynne E., Nickerson, Deborah A., Bamshad, Michael J.
Publicado 2015

Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis

por Emond, Mary J., Louie, Tin, Emerson, Julia, Chong, Jessica X., Mathias, Rasika A., Knowles, Michael R., Rieder, Mark J., Tabor, Holly K., Nickerson, Debbie A., Barnes, Kathleen C., GO, Lung, Gibson, Ronald L., Bamshad, Michael J.
Publicado 2015

Correction: Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis

por Emond, Mary J., Louie, Tin, Emerson, Julia, Chong, Jessica X., Mathias, Rasika A., Knowles, Michael R., Rieder, Mark J., Tabor, Holly K., Nickerson, Debbie A., Barnes, Kathleen C., GO, Lung, Gibson, Ronald L., Bamshad, Michael J.
Publicado 2015

Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis

por Emond, Mary J, Louie, Tin, Emerson, Julia, Zhao, Wei, Mathias, Rasika A., Knowles, Michael R., Wright, Fred A., Rieder, Mark J., Tabor, Holly K., Nickerson, Debbie A., Barnes, Kathleen C., GO, Lung, Gibson, Ronald L., Bamshad, Michael J.
Publicado 2012

High-Throughput Sequencing in Respiratory, Critical Care, and Sleep Medicine Research. An Official American Thoracic Society Workshop Report

por Hersh, Craig P., Adcock, Ian M., Celedón, Juan C., Cho, Michael H., Christiani, David C., Himes, Blanca E., Kaminski, Naftali, Mathias, Rasika A., Meyers, Deborah A., Quackenbush, John, Redline, Susan, Steiling, Katrina A., Tabor, Holly K., Tobin, Martin D., Wurfel, Mark M., Yang, Ivana V.
Publicado 2019

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

Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience

por Porter, Kathryn M., Kauffman, Tia L., Koenig, Barbara A., Lewis, Katie L., Rehm, Heidi L., Richards, Carolyn Sue, Strande, Natasha T., Tabor, Holly K., Wolf, Susan M., Yang, Yaping, Amendola, Laura M., Azzariti, Danielle R., Berg, Jonathan S., Bergstrom, Katie, Biesecker, Leslie G., Biswas, Sawona, Bowling, Kevin M., Chung, Wendy K., Clayton, Ellen W., Conlin, Laura K., Cooper, Gregory M., Dulik, Matthew C., Garraway, Levi A., Ghazani, Arezou A., Green, Robert C., Hiatt, Susan M., Jamal, Seema M., Jarvik, Gail P., Goddard, Katrina A. B., Wilfond, Benjamin S.
Publicado 2018

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

por Amendola, Laura M., Dorschner, Michael O., Robertson, Peggy D., Salama, Joseph S., Hart, Ragan, Shirts, Brian H., Murray, Mitzi L., Tokita, Mari J., Gallego, Carlos J., Kim, Daniel Seung, Bennett, James T., Crosslin, David R., Ranchalis, Jane, Jones, Kelly L., Rosenthal, Elisabeth A., Jarvik, Ella R., Itsara, Andy, Turner, Emily H., Herman, Daniel S., Schleit, Jennifer, Burt, Amber, Jamal, Seema M., Abrudan, Jenica L., Johnson, Andrew D., Conlin, Laura K., Dulik, Matthew C., Santani, Avni, Metterville, Danielle R., Kelly, Melissa, Foreman, Ann Katherine M., Lee, Kristy, Taylor, Kent D., Guo, Xiuqing, Crooks, Kristy, Kiedrowski, Lesli A., Raffel, Leslie J., Gordon, Ora, Machini, Kalotina, Desnick, Robert J., Biesecker, Leslie G., Lubitz, Steven A., Mulchandani, Surabhi, Cooper, Greg M., Joffe, Steven, Richards, C. Sue, Yang, Yaoping, Rotter, Jerome I., Rich, Stephen S., O’Donnell, Christopher J., Berg, Jonathan S., Spinner, Nancy B., Evans, James P., Fullerton, Stephanie M., Leppig, Kathleen A., Bennett, Robin L., Bird, Thomas, Sybert, Virginia P., Grady, William M., Tabor, Holly K., Kim, Jerry H., Bamshad, Michael J., Wilfond, Benjamin, Motulsky, Arno G., Scott, C. Ronald, Pritchard, Colin C., Walsh, Tom D., Burke, Wylie, Raskind, Wendy H., Byers, Peter, Hisama, Fuki M., Rehm, Heidi, Nickerson, Debbie A., Jarvik, Gail P.
Publicado 2015