Findings from the Peutz-Jeghers syndrome registry of uruguay.

Autor: Asadur Tchekmedyian, Christopher I Amos, Sherri J Bale, Dakai Zhu, Stefan Arold, Joaquin Berrueta, Natalie Nabon, Thomas McGarrity

Publikováno v: PLoS ONE, Vol 8, Iss 11, p e79639 (2013)

BACKGROUND: Peutz-Jeghers syndrome (PJS) is characterized by intestinal polyposis, mucocutaneous pigmentation and an increased cancer risk, usually caused by mutations of the STK11 gene. This study collected epidemiological, clinical and genetic data

Externí odkaz: https://doaj.org/article/0595812614c541e8bfd01cb86813ba53

ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

Autor: Teri E. Klein, Laura M. Amendola, Gail E. Herman, Adam S. Gordon, C. Sue Richards, David T. Miller, Christa Lese Martin, Michael S. Watson, Kathy Adelman, Sherri J. Bale, Kristy Lee, Ray E. Hershberger, Steven M. Harrison, Douglas R. Stewart, Kent D. McKelvey, Christopher N. Vlangos, Wendy K. Chung, Michael H. Gollob

Publikováno v: Genetics in Medicine. 23:1381-1390

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8f735dfd0aae2f9f48f45c8c18609d0d
https://doi.org/10.1038/s41436-021-01172-3

Correction to: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

Autor: David T. Miller, Kristy Lee, Wendy K. Chung, Adam S. Gordon, Gail E. Herman, Teri E. Klein, Douglas R. Stewart, Laura M. Amendola, Kathy Adelman, Sherri J. Bale, Michael H. Gollob, Steven M. Harrison, Ray E. Hershberger, Kent McKelvey, C. Sue Richards, Christopher N. Vlangos, Michael S. Watson, Christa Lese Martin

Publikováno v: Genetics in Medicine. 23:1582-1584

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e81ec5ba114db30ead722495356a0fd1
https://doi.org/10.1038/s41436-021-01278-8

Mutation Screening Using Automated Bidirectional Dideoxy Fingerprinting

Autor: Yuriy O. Shevchenko, Sherri J. Bale, John G. Compton

Publikováno v: BioTechniques, Vol 28, Iss 1, Pp 134-138 (2000)

The need continues to grow for mutation identification in genetic disease in both research and clinical settings. We have developed a rapid nonradioactive bidirectional dideoxy fingerprint mutation screening procedure that is performed using an autom

Externí odkaz: https://doaj.org/article/e1e8f1b61276474980d511ad458d48ad

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories

Autor: Amy K. Johnson, Heidi L. Rehm, Madhuri Hegde, Kevin M. Bowling, C. Sue Richards, Wendy K. Chung, Gail P. Jarvik, Susan M. Wolf, Karen E. Weck, Michele C. Gornick, Joshua L. Deignan, Brian H. Shirts, James P. Evans, Soma Das, Sumit Punj, Lindsey Mighion, Sharon E. Plon, Massimo Morra, Julianne M. O’Daniel, Arezou A. Ghazani, Katrina A.B. Goddard, Sherri J. Bale, Tina Hambuch, Sha Tang, Gregory M. Cooper, Lucia A. Hindorff, Kelly D. Farwell Hagman, Ingrid A. Holm, Elizabeth C. Chao, Heather M. McLaughlin, Laura K. Conlin, Nancy B. Spinner, Avni Santani, David P. Bick, Yaping Yang, Jonathan S. Berg, Laura M. Amendola, Michael O. Dorschner

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics
O'Daniel, Julianne M; McLaughlin, Heather M; Amendola, Laura M; Bale, Sherri J; Berg, Jonathan S; Bick, David; et al.(2017). A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.. Genetics in medicine : official journal of the American College of Medical Genetics, 19(5), 575-582. UC Irvine: Institute for Clinical and Translational Science. Retrieved from: http://www.escholarship.org/uc/item/36w1z6tw

While the diagnostic success of genomic sequencing expands, the complexity of this testing should not be overlooked. Numerous laboratory processes are required to support the identification, interpretation, and reporting of clinically significant var

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::889af21b96e0c10168658f258ca287db
https://doi.org/10.1038/gim.2016.152