Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Arlene, Buller"'
Autor:
Rebecca Nakles-Taylor, Elinette Albino, David Tsao, Rebecca Chen, Camille Nery, Izabela Karbassi, Arlene Buller-Burckle
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100434- (2023)
Externí odkaz:
https://doaj.org/article/420939d1afec45208a02f325576ac86a
Autor:
Weimin Sun, Renius Owen, Sun Hee Rosenthal, Arlene Buller-Burckle, Quoclinh Nguyen, Ke Zhang, James Li, David Wolfson, Elaine Hiller, Anna Gerasimova, Christopher Elzinga, Linda Cheng, Andrew Grupe, Alla Smolgovsky, Rebecca Chen, Joseph J. Catanese, Carolyn Castonguay, Yan Liu, Camille R. Nery, Felicitas Lacbawan
Publikováno v:
BioMed Research International
BioMed Research International, Vol 2020 (2020)
BioMed Research International, Vol 2020 (2020)
The use of genetic testing to identify individuals with hereditary cancer syndromes has been widely adopted by clinicians for management of inherited cancer risk. The objective of this study was to develop and validate a 34-gene inherited cancer pred
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f81b27b0f9e58951a1ffb91b89096748
http://europepmc.org/articles/PMC6998746
http://europepmc.org/articles/PMC6998746
Autor:
Renius Owen, Yan Liu, Arlene Buller-Burckle, Sun Hee Rosenthal, Ke Zhang, Felicitas Lacbawan, Alla Smolgovsky
Publikováno v:
Cancer Research. 80:5741-5741
Background: Hereditary cancer accounts for 5% to 10% of all cancers. In addition to sequence variants, copy number variants (CNVs) are a cause of inherited cancer syndromes. Next-generation sequencing (NGS) technology enables simultaneous interrogati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d41f5222951f546c79b54e0fe54d467b
https://doi.org/10.1158/1538-7445.am2020-5741
https://doi.org/10.1158/1538-7445.am2020-5741
Autor:
Christina Bridges, Ramaswamy K. Iyer, Lisa V. Kalman, Pinar Bayrak-Toydemir, Jack Tarleton, Shannon D. Barker, Arlene Buller-Burckle, Lorraine Toji, Sherri J. Bale, Soma Das, Timothy D. Vo, Val V. Zvereff, Alan K. Percy, Swaroop Aradhya
Publikováno v:
The Journal of Molecular Diagnostics. 16(2):273-279
Rett syndrome is a dominant X-linked disorder caused by point mutations (approximately 80%) or by deletions or insertions (approximately 15% to 18%) in the MECP2 gene. It is most common in females but lethal in males, with a distinctly different phen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e315ac848c49892d05e21464ae541e4
Autor:
C. R. Franklin, Charles M. Strom, Monica V.E. Gallivan, Mario Mikula, Weimin Sun, Arlene Buller-Burckle
Publikováno v:
International Journal of Laboratory Hematology. 33:310-317
Summary Introduction: Beta globin deletion/duplication analysis may serve as a useful adjunct to sequence analysis. Our purpose was to develop a robust assay for beta globin deletion/duplication analysis and determine its role in evaluating patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1c7ba0c450ea5e0454c2ca70e4e1b651
https://doi.org/10.1111/j.1751-553x.2010.01287.x
https://doi.org/10.1111/j.1751-553x.2010.01287.x
Autor:
Matthew Campbell, Karen E. Weck, Barbara A. Zehnbauer, Alan H.B. Wu, Arlene Buller, Ken Butz, Junaid Shabbeer, Jean Amos Wilson, Kasinathan Muralidharan, Ruth Baak, Milhan Telatar, Le Anne Noll, Tara L. Sander, Markus Zeller, Chris J. Civalier, Nikolina Babic, Maria P. Bettinotti, Carlos Vance, Elaine Lyon, Victoria M. Pratt, Daniel H. Farkas, Kiang-Teck J. Yeo, Jason McKinney, Lorraine Toji, Lisa V. Kalman, Chingying Huang Smith, Abdalla El-Badry, Saptarshi Mandal, Anand Vairavan
Publikováno v:
The Journal of Molecular Diagnostics. 12:835-846
Pharmacogenetic testing is becoming more common; however, very few quality control and other reference materials that cover alleles commonly included in such assays are currently available. To address these needs, the Centers for Disease Control and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e9ee7050ad5afb2ea3bbe6fc8ae688de
https://doi.org/10.2353/jmoldx.2010.100090
https://doi.org/10.2353/jmoldx.2010.100090
Autor:
Louis Geller, Arlene Buller, Jean Amos Wilson, William Edward Highsmith, Kasinathan Muralidharan, Tina Sellers, Ruth Kornreich, Elizabeth M. Rohlfs, Toby L. Payeur, Lisa Edelmann, Leonard M. Holtegaard, Lisa V. Kalman, Lorraine Toji, John Dixon
Publikováno v:
The Journal of Molecular Diagnostics. 11:530-536
Many recessive genetic disorders are found at a higher incidence in people of Ashkenazi Jewish (AJ) descent than in the general population. The American College of Medical Genetics and the American College of Obstetricians and Gynecologists have reco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::862935cd4ebe80eb8346981f2c59dfa9
https://doi.org/10.2353/jmoldx.2009.090050
https://doi.org/10.2353/jmoldx.2009.090050
Autor:
Michele Caggana, Elizabeth M. Rohlfs, Shannon D. Barker, Victoria M. Pratt, Kasinathan Muralidharan, W. Edward Highsmith, Lisa V. Kalman, Leonard M. Holtegaard, Christina Bridges, Jack Tarleton, Arlene Buller, Lorraine Toji, Lisa DiAntonio
Publikováno v:
The Journal of Molecular Diagnostics. 11:186-193
The number of different laboratories that perform genetic testing for cystic fibrosis is increasing. However, there are a limited number of quality control and other reference materials available, none of which cover all of the alleles included in co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59192079c2c5cb7b5a3b2c5974ecfccc
https://doi.org/10.2353/jmoldx.2009.080149
https://doi.org/10.2353/jmoldx.2009.080149
Publikováno v:
Genetics in Medicine. 10:349-352
Purpose: To determine the carrier frequency of familial Mediterranean fever (FMF) mutations of individuals in three different US testing populations: Cystic fibrosis, Factor V Leiden, and Ashkenazi Jews. Methods: DNA samples from 1234 anonymous sampl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58803fda5c845d1d250c45d394abecab
https://doi.org/10.1097/gim.0b013e3181723cc8
https://doi.org/10.1097/gim.0b013e3181723cc8
Autor:
Samantha Maragh, Monique A. Johnson, Elizabeth Berry-Kravis, Kristy L. Richie, Kasinathan Muralidharan, Frederick V. Schaefer, Tina Sellers, Lisa V. Kalman, Karla J. Matteson, Elaine B. Spector, James H. Handsfield, Brett Casey, Jeanne C. Beck, Elizabeth M. Rohlfs, Arlene Buller, Gerald L. Feldman, C. Sue Richards, John P. Jakupciak
Publikováno v:
Genetics in Medicine. 9:719-723
Purpose: Diagnostic and predictive testing for Huntington disease requires an accurate measurement of CAG repeats in the HD (IT15) gene. However, precise repeat sizing can be technically challenging, and is complicated by the lack of quality control
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a77958b5ffaf2cfb52c34ce0e5fff2d
https://doi.org/10.1097/gim.0b013e318156e8c1
https://doi.org/10.1097/gim.0b013e318156e8c1