Multiple Property Tolerance Analysis for the Evaluation of Missense Mutations

por Lee, Tai-Sung, Potts, Steven J., McGinniss, Matthew J., Strom, Charles M.
Publicado 2007

Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17 ~ 92 cluster

por Hemmat, Morteza, Rumple, Melissa J, Mahon, Loretta W, Strom, Charles M, Anguiano, Arturo, Talai, Maryam, Nguyen, Bryant, Boyar, Fatih Z
Publicado 2014

Measurement of Cetuximab and Panitumumab-Unbound Serum EGFR Extracellular Domain Using an Assay Based on Slow Off-Rate Modified Aptamer (SOMAmer) Reagents

por Park, Noh Jin, Wang, Xiuqiang, Diaz, Angelica, Goos-Root, Dana M., Bock, Christopher, Vaught, Jonathan D., Sun, Weimin, Strom, Charles M.
Publicado 2013

Submicroscopic deletion of 5q involving tumor suppressor genes (CTNNA1, HSPA9) and copy neutral loss of heterozygosity associated with TET2 and EZH2 mutations in a case of MDS with...

por Hemmat, Morteza, Chen, Weina, Anguiano, Arturo, Naggar, Mohammed El, Racke, Frederick K, Jones, Dan, Wang, Yongbao, Strom, Charles M, Chang, Karl, Boyar, Fatih Z
Publicado 2014

Development and validation of a quantitative, non-invasive, highly sensitive and specific, electrochemical assay for anti-SARS-CoV-2 IgG antibodies in saliva

por Chiang, Samantha H., Tu, Michael, Cheng, Jordan, Wei, Fang, Li, Feng, Chia, David, Garner, Omai, Chandrasekaran, Sukantha, Bender, Richard, Strom, Charles M., Wong, David T. W.
Publicado 2021

Development and validation of a highly sensitive and specific electrochemical assay to quantify anti-SARS-CoV-2 IgG antibodies to facilitate pandemic surveillance and monitoring of...

por Chiang, Samantha H., Tu, Michael, Cheng, Jordan, Wei, Fang, Li, Feng, Chia, David, Garner, Omai, Chandrasekaran, Sukantha, Bender, Richard, Strom, Charles M., Wong, David T.W.
Publicado 2020

Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory

por Strom, Charles M., Rivera, Steven, Elzinga, Christopher, Angeloni, Taraneh, Rosenthal, Sun Hee, Goos-Root, Dana, Siaw, Martin, Platt, Jamie, Braastadt, Cory, Cheng, Linda, Ross, David, Sun, Weimin
Publicado 2015

The sensitivity and specificity of hyperglycosylated hCG (hhCG) levels to reliably diagnose clinical IVF pregnancies at 6 days following embryo transfer

por Strom, Charles M., Bonilla-Guererro, Ruben, Zhang, Ke, Doody, Kevin J., Tourgeman, David, Alvero, Ruben, Cedars, Marcelle I., Crossley, Beryl, Pandian, Raj, Sharma, Rajesh, Neidich, Julie, Salazar, Denise
Publicado 2012

Identification and clinical evaluation of segments of homozygosity, uniparental disomy and complex chromosomal abnormalities revealed by copy-number SNP arrays

por Wang, Jia-Chi, Ross, Leslie, Mahon, Loretta W, Owen, Renius, Hemmat, Morteza, Wang, Boris T, El Naggar, Mohammed, Kopita, Kimberly A, Haddadin, Mary, Boyar, Fatih Z, Anguiano, Arturo, Strom, Charles M, Sahoo, Trilochan
Publicado 2014

Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay

por Hemmat, Morteza, Yang, Xiaojing, Chan, Patricia, McGough, Robert A, Ross, Leslie, Mahon, Loretta W, Anguiano, Arturo L, Boris, Wang T, Elnaggar, Mohamed M, Wang, Jia-Chi J, Strom, Charles M, Boyar, Fatih Z
Publicado 2014

Spectral Karyotyping for identification of constitutional chromosomal abnormalities at a national reference laboratory

por Anguiano, Arturo, Wang, Boris T, Wang, Shirong R, Boyar, Fatih Z, Mahon, Loretta W, El Naggar, Mohamed M, Kohn, Peter H, Haddadin, Mary H, Sulcova, Vladimira, Sbeiti, Adam H, Ayad, Mervat S, White, Beverly J, Strom, Charles M
Publicado 2012

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

por Watson, Michael S., Cutting, Garry R., Desnick, Robert J., Driscoll, Deborah A., Klinger, Katherine, Mennuti, Michael, Palomaki, Glenn E., Popovich, Bradley W., Pratt, Victoria M., Rohlfs, Elizabeth M., Strom, Charles M., Richards, C. Sue, Witt, David R., Grody, Wayne W.
Publicado 2004

Improving the Positive Predictive Value of Non-Invasive Prenatal Screening (NIPS)

por Strom, Charles M., Anderson, Ben, Tsao, David, Zhang, Ke, Liu, Yan, Livingston, Kayla, Elzinga, Christopher, Evans, Matthew, Nguyen, Quoclinh, Wolfson, David, Rowland, Charles, Kolacki, Paula, Maxwell, Megan, Wang, Jia-Chi, Rabin, Douglas, Catanese, Joseph, Owen, Renius, Braastad, Corey, Sun, Weimin
Publicado 2017

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders

por Karbassi, Izabela, Maston, Glenn A., Love, Angela, DiVincenzo, Christina, Braastad, Corey D., Elzinga, Christopher D., Bright, Alison R., Previte, Domenic, Zhang, Ke, Rowland, Charles M., McCarthy, Michele, Lapierre, Jennifer L., Dubois, Felicita, Medeiros, Katelyn A., Batish, Sat Dev, Jones, Jeffrey, Liaquat, Khalida, Hoffman, Carol A., Jaremko, Malgorzata, Wang, Zhenyuan, Sun, Weimin, Buller‐Burckle, Arlene, Strom, Charles M., Keiles, Steven B., Higgins, Joseph J.
Publicado 2015

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

por Valente, Enza Maria, Logan, Clare V., Mougou-Zerelli, Soumaya, Lee, Jeong Ho, Silhavy, Jennifer L., Brancati, Francesco, Iannicelli, Miriam, Travaglini, Lorena, Romani, Sveva, Illi, Barbara, Adams, Matthew, Szymanska, Katarzyna, Mazzotta, Annalisa, Lee, Ji Eun, Tolentino, Jerlyn C., Swistun, Dominika, Salpietro, Carmelo D., Fede, Carmelo, Gabriel, Stacey, Russ, Carsten, Cibulskis, Kristian, Sougnez, Carrie, Hildebrandt, Friedhelm, Otto, Edgar A., Held, Susanne, Diplas, Bill H., Davis, Erica, Mikula, Mario, Strom, Charles M., Ben-Ze’ev, Bruria, Lev, Dorit, Sagie, Tally Lerman, Michelson, Marina, Yaron, Yuval, Krause, Amanda, Boltshauser, Eugen, Elkhartoufi, Nadia, Roume, Joelle, Shalev, Stavit, Munnich, Arnold, Saunier, Sophie, Inglehearn, Chris, Saad, Ali, Alkindy, Adila, Thomas, Sophie, Vekemans, Michel, Dallapiccola, Bruno, Katsanis, Nicholas, Johnson, Colin A., Attié-Bitach, Tania, Gleeson, Joseph G.
Publicado 2010