Multiple Property Tolerance Analysis for the Evaluation of Missense Mutations

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

Apparent Homozygosity of a Novel Frame Shift Mutation in the CFTR Gene Because of a Large Deletion

Por Hantash, Feras M., Rebuyon, Arlene, Peng, Mei, Redman, Joy B., Sun, Weimin, Strom, Charles M.
Publicado em 2009

Technical Validation of a Tm Biosciences Luminex-Based Multiplex Assay for Detecting the American College of Medical Genetics Recommended Cystic Fibrosis Mutation Panel

Por Strom, Charles M., Janeszco, Richard, Quan, Franklin, Wang, Sheng-biao, Buller, Arlene, McGinniss, Matthew, Sun, Weimin
Publicado em 2006

Construction and Sequence Analysis of Subtraction Complementary DNA Libraries from Human Preimplantation Embryos

Por Morozov, Gennady, Verlinsky, Oleg, Rechitsky, Svetlana, Ivakhnenko, Viktor, Goltsman, Eugeny, Gindilis, Viktor, Strom, Charles, Kuliev, Anver, Verlinsky, Yury
Publicado em 1999

Rapid One-Step Carrier Detection Assay of Mucolipidosis IV Mutations in the Ashkenazi Jewish Population

Por Hantash, Feras M., Olson, Susan C., Anderson, Ben, Buller, Arlene, Chen, Rebecca, Crossly, Beryl, Sun, Weimin, Strom, Charles M.
Publicado em 2006

Characterization of a Recurrent Novel Large Duplication in the Cystic Fibrosis Transmembrane Conductance Regulator Gene

Por Hantash, Feras M., Redman, Joy B., Goos, Dana, Kammesheidt, Anja, McGinniss, Matthew J., Sun, Weimin, Strom, Charles M.
Publicado em 2007

Development of a Web-Based Query Tool for Quality Assurance of Clinical Molecular Genetic Test Results

Por McGinniss, Matthew J., Chen, Rebecca, Pratt, Victoria M., Buller, Arlene, Quan, Franklin, Strom, Charles M., Sun, Weimin, Crossley, Beryl
Publicado em 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 em 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 em 2013

Inherited and de novo 22q11.2 distal duplications in two patients with autistic features, speech delay and no dysmorphology

Por Hantash, Feras M., Wang, Boris T., Owen, Renius, Ross, Leslie P., Mahon, Loretta W., Boyar, Fatih Z., Anguiano, Arturo, Strom, Charles M.
Publicado no J Pediatr Genet (2012)

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 em 2014

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 no PLoS One (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 em 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 em 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 no Mol Cytogenet (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 em 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 em 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 no PLoS One (2017)

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility

Por Wang, Jia-Chi, Ross, Leslie, Mahon, Loretta W, Owen, Renius, Hemmat, Morteza, Wang, Boris T, El Naggar, Mohammed, Kopita, Kimberly A, Randolph, Linda M, Chase, John M, Matas Aguilera, Maria J, Siles, Juan López, Church, Joseph A, Hauser, Natalie, Shen, Joseph J, Jones, Marilyn C, Wierenga, Klaas J, Jiang, Zhijie, Haddadin, Mary, Boyar, Fatih Z, Anguiano, Arturo, Strom, Charles M, Sahoo, Trilochan
Publicado no Eur J Hum Genet (2015)

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 no Hum Mutat (2015)