Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Gabriel A. Lazarin"'
Autor:
Ari Silver, Gabriel A. Lazarin, Maxwell Silver, Meghan Miller, Michael Jansen, Christine Wechsberg, Erin Dekanek, Stav Grossfeld, Tim Herpel, Dinura Gunatilake, Alexander Bisignano, Malgorzata Jaremko
Publikováno v:
Journal of Personalized Medicine; Volume 12; Issue 5; Pages: 667
DNA-based screening in individuals without known risk factors potentially identifies those who may benefit from genetic counseling, early medical interventions, and/or avoidance of late or missed diagnoses. While not currently in widespread usage, te
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d4ded09c704e67e33604078cb2b3404
https://pubmed.ncbi.nlm.nih.gov/35629091
https://pubmed.ncbi.nlm.nih.gov/35629091
Autor:
Brad Angle, Rotem Ben-Shachar, Gabriel A. Lazarin, Allison L. Goetsch, Katherine Johansen Taber, Jeanine Schulze, Jodi D. Hoffman, Aishwarya Arjunan, Jennifer Tarpinian, Pilar L. Magoulas, Richard Dineen, Raul Torres, Holly Bellerose, Andrea M. Lewis, Jessica A Bucher, Robert Nathan Slotnick, Kelly Bontempo, Brittany N. Simpson
Publikováno v:
Prenatal Diagnosis
BackgroundSeverity is an important factor for inclusion of diseases on expanded carrier screening (ECS) panels. Here, we applied a validated algorithm that objectively classifies diseases into severity categories to 176 genes on a clinically availabl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18426e3fabdbc18c0008742a00fc518b
http://europepmc.org/articles/PMC7540025
http://europepmc.org/articles/PMC7540025
Autor:
Aileen Espinal, Anne E. Reed-Weston, Gabriel A. Lazarin, Codruta Chiuzan, Julia Wynn, Bianca Hasar, Paul S. Appelbaum, Wendy K. Chung, Chunhua Weng
Publikováno v:
J Community Genet
Genetic screening to inform personal risk has only recently become an option as the cost of sequencing decreases, and our ability to interpret sequence variants improves. Studies have demonstrated that people want to learn about their genetic informa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cb389bbf63b179085541f038669bc87
https://doi.org/10.1007/s12687-020-00464-6
https://doi.org/10.1007/s12687-020-00464-6
Autor:
Rotem Ben-Shachar, Gabriel A. Lazarin, Dale Muzzey, Carrie Haverty, Aishwarya Arjunan, Katherine Johansen Taber, Jamie Kostialik, Elizabeth Denne
Publikováno v:
Telemedicine Journal and e-Health
Background: Noninvasive prenatal screening (NIPS) utilization has grown dramatically and is increasingly offered to the general population by nongenetic specialists. Web-based technologies and telegenetic services offer potential solutions for effici
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68cc8782ff172b1de4bc1cab4138af12
http://europepmc.org/articles/PMC6948005
http://europepmc.org/articles/PMC6948005
Autor:
Aarti Ramdaney, Lauren Lichten, Lauren Propst, Caitlin Mann, Gabriel A. Lazarin, Malorie Jones, Amy Taylor, Jennifer Malinowski
Publikováno v:
Journal of genetic counselingREFERENCES. 31(4)
The aim of carrier screening is to identify prospective parents at risk of having a pregnancy affected with an autosomal recessive or X-linked disorder. Though minimal guideline-based screening is available, expanded carrier screening (ECS) is quickl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e4b2a96870d65a47ec440105c233706
https://pubmed.ncbi.nlm.nih.gov/35212439
https://pubmed.ncbi.nlm.nih.gov/35212439
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
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:
Gabriel A Lazarin, Felicia Hawthorne, Nicholas S Collins, Elizabeth A Platt, Eric A Evans, Imran S Haque
Publikováno v:
PLoS ONE, Vol 9, Iss 12, p e114391 (2014)
Professional guidelines dictate that disease severity is a key criterion for carrier screening. Expanded carrier screening, which tests for hundreds to thousands of mutations simultaneously, requires an objective, systematic means of describing a giv
Externí odkaz:
https://doaj.org/article/0e3ff66021484cb791fbf0fb9614f39d
Autor:
Nikita Albanese, Pia Farinas, Christine Wechsberg, Shannon Mahoney, Michael Jansen, Louise Castillo, Malgorzata Jaremko, Gabriel A. Lazarin, Meghan Miller, Alexander Bisignano
BackgroundRapid and easy COVID-19 diagnostic testing is essential to controlling the pandemic and facilitating safe resumption of clinical care, employment and other social activities.MethodsThis study was conducted to validate an self-administrable
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9df4aec573389c78b9fb4b8b03ef5dba
https://doi.org/10.1101/2020.06.05.20122721
https://doi.org/10.1101/2020.06.05.20122721
Publikováno v:
Biological Research for Nursing
Next-generation sequencing (NGS) technology has led to the ability to test for multiple cancer susceptibility genes simultaneously without significantly increasing cost or turnaround time. With growing usage of multigene testing for inherited cancer,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22c05e4c89eba65ff7f3898868aa6d8a
https://doi.org/10.1177/1099800417750746
https://doi.org/10.1177/1099800417750746