Noninvasive prenatal screening for patients with high body mass index: Evaluating the impact of a customized whole genome sequencing workflow on sensitivity and residual risk

por Muzzey, Dale, Goldberg, James D., Haverty, Carrie
Publicado 2019

Changing trends in carrier screening for genetic disease in the United States

por Nazareth, Shivani B., Lazarin, Gabriel A., Goldberg, James D.
Publicado 2015

Response to “Noninvasive prenatal screening at low fetal fraction: comparing whole‐genome sequencing and single‐nucleotide polymorphism methods”

por Muzzey, Dale, Haverty, Carrie, Evans, Eric A., Goldberg, James D.
Publicado 2017

A data-driven evaluation of the size and content of expanded carrier screening panels

por Ben-Shachar, Rotem, Svenson, Ashley, Goldberg, James D., Muzzey, Dale
Publicado 2019

Smith–Lemli–Opitz syndrome carrier frequency and estimates of in utero mortality rates

por Lazarin, Gabriel A., Haque, Imran S., Evans, Eric A., Goldberg, James D.
Publicado 2017

Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines

por Kaseniit, Kristjan E., Haque, Imran S., Goldberg, James D., Shulman, Lee P., Muzzey, Dale
Publicado 2020

Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples

por Ghiossi, Caroline E., Goldberg, James D., Haque, Imran S., Lazarin, Gabriel A., Wong, Kenny K.
Publicado 2017

American College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy

por Shaffer, Lisa G., Agan, Noelle, Goldberg, James D., Ledbetter, David H., Longshore, John W., Cassidy, Suzanne B.
Publicado 2001

Clinical utility of expanded carrier screening: results-guided actionability and outcomes

por Johansen Taber, Katherine A., Beauchamp, Kyle A., Lazarin, Gabriel A., Muzzey, Dale, Arjunan, Aishwarya, Goldberg, James D.
Publicado 2018

Sequencing as a first-line methodology for cystic fibrosis carrier screening

por Beauchamp, Kyle A., Johansen Taber, Katherine A., Grauman, Peter V., Spurka, Lindsay, Lim-Harashima, Jeraldine, Svenson, Ashley, Goldberg, James D., Muzzey, Dale
Publicado 2019

Correction: Sequencing as a first-line methodology for cystic fibrosis carrier screening

por Beauchamp, Kyle A., Taber, Katherine A. Johansen, Grauman, Peter V., Spurka, Lindsay, Lim-Harashima, Jeraldine, Svenson, Ashley, Goldberg, James D., Muzzey, Dale
Publicado 2019

High-throughput fetal fraction amplification increases analytical performance of noninvasive prenatal screening

por Welker, Noah C., Lee, Albert K., Kjolby, Rachel A. S., Wan, Helen Y., Theilmann, Mark R., Jeon, Diana, Goldberg, James D., Haas, Kevin R., Muzzey, Dale, Chu, Clement S.
Publicado 2020

Systematic design and comparison of expanded carrier screening panels

por Beauchamp, Kyle A, Muzzey, Dale, Wong, Kenny K, Hogan, Gregory J, Karimi, Kambiz, Candille, Sophie I, Mehta, Nikita, Mar-Heyming, Rebecca, Kaseniit, K Eerik, Kang, H Peter, Evans, Eric A, Goldberg, James D, Lazarin, Gabriel A, Haque, Imran S
Publicado 2018