Zobrazeno 1 - 10
of 115
pro vyhledávání: '"James D. Goldberg"'
Publikováno v:
Prenatal Diagnosis. 43:496-505
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::348086caecccb851b168a2c4f194f3e0
https://doi.org/10.1002/pd.6306
https://doi.org/10.1002/pd.6306
Autor:
Mark R. Theilmann, Rachel A. S. Kjolby, Diana Jeon, Kevin R. Haas, Dale Muzzey, Clement Chu, Helen Y. Wan, James D. Goldberg, Noah C. Welker, Albert Lee
Publikováno v:
Genetics in Medicine
Purpose The percentage of a maternal cell-free DNA (cfDNA) sample that is fetal-derived (the fetal fraction; FF) is a key driver of the sensitivity and specificity of noninvasive prenatal screening (NIPS). On certain NIPS platforms, >20% of women wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8026220f29284eb56c79d3c38d48c50
https://doi.org/10.1038/s41436-020-01009-5
https://doi.org/10.1038/s41436-020-01009-5
Publikováno v:
Genetics in Medicine
Purpose Carrier status associates strongly with genetic ancestry, yet current carrier screening guidelines recommend testing for a limited set of conditions based on a patient’s self-reported ethnicity. Ethnicity, which can reflect both genetic anc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78bf060f59584439529be1154bae4f19
https://doi.org/10.1038/s41436-020-0869-3
https://doi.org/10.1038/s41436-020-0869-3
Publikováno v:
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::204122a55dc48ed95cd55ed36c7803f6
https://doi.org/10.1016/b978-0-12-815236-2.00008-4
https://doi.org/10.1016/b978-0-12-815236-2.00008-4
Publikováno v:
Prenatal Diagnosis
Objective Women with high body mass index (BMI) tend to have reduced fetal fraction (FF) during cell‐free DNA‐based noninvasive prenatal screening (NIPS), causing test failure rates up to 24.3% and prompting guidelines that recommend aneuploidy s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c328228e7a0895a69499fb36e1956382
http://europepmc.org/articles/PMC7065115
http://europepmc.org/articles/PMC7065115
Publikováno v:
Expert Review of Molecular Diagnostics. 21:433-435
Genetic conditions contribute significantly to human morbidity and mortality. The importance of genetics is clear in the setting of pregnancy, not only to prenatal healthcare providers, but also to...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::590955c4fd3f27409e0e15bdf806d4b5
https://doi.org/10.1080/14737159.2021.1919087
https://doi.org/10.1080/14737159.2021.1919087
Autor:
Gabriel A. Lazarin, Aishwarya Arjunan, Kyle A. Beauchamp, James D. Goldberg, Katherine Johansen Taber, Dale Muzzey
Publikováno v:
Genetics in Medicine
Purpose: Expanded carrier screening (ECS) informs couples of their risk of having offspring affected by certain genetic conditions. Limited data exists assessing the actions and reproductive outcomes of at-risk couples (ARCs). We describe the impact
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6d5df862acb77299e211fd59c080c17
https://doi.org/10.1038/s41436-018-0321-0
https://doi.org/10.1038/s41436-018-0321-0
Autor:
Aishwarya Arjunan, Haywood L. Brown, Rotem Ben-Shachar, Kristjan Eerik Kaseniit, James D. Goldberg, Dale Muzzey, Raul Torres, Katherine Johansen Taber
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(1)
Purpose The American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG) suggest carrier screening panel design criteria intended to ensure meaningful results. This study used a data-driv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aac6a7a0373f9b642af05d0de7c19149
https://pubmed.ncbi.nlm.nih.gov/34906503
https://pubmed.ncbi.nlm.nih.gov/34906503
Autor:
Dale Muzzey, Kevin R. Haas, James D. Goldberg, Rachel A. S. Kjolby, Noah C. Welker, Mark R. Theilmann, Clement Chu, Albert Lee, Helen Y. Wan, Diana Jeon
PurposeThe percentage of a maternal cell-free DNA (cfDNA) sample that is fetal-derived (the fetal fraction; FF) is a key driver of the sensitivity and specificity of noninvasive prenatal screening (NIPS). On certain NIPS platforms, >20% of women with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08cfff66a3f9afc93b47fdf556fd645e
https://doi.org/10.1101/2020.07.12.20034926
https://doi.org/10.1101/2020.07.12.20034926
PurposeDespite strong association between genetic ancestry and carrier status, current carrier-screening guidelines recommend testing for a limited set of conditions based on a patient’s self-reported ethnicity, which conflates genetic and cultural
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23519a0235fb0feff751043334cc849f
https://doi.org/10.1101/2019.12.21.19015578
https://doi.org/10.1101/2019.12.21.19015578