Search Results - "Sah, Sachin"

Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers by Nolin, Sarah L., Glicksman, Anne, Ersalesi, Nicole, Dobkin, Carl, Ted Brown, W., Cao, Ru, Blatt, Eliot, Sah, Sachin, Latham, Gary J., Hadd, Andrew G.

“…Fragile X CGG repeat alleles often contain one or more AGG interruptions that influence allele stability and risk of a full mutation transmission from parent…”
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A Novel FMR1 PCR Method for the Routine Detection of Low Abundance Expanded Alleles and Full Mutations in Fragile X Syndrome by Filipovic-Sadic, Stela, Sah, Sachin, Chen, Liangjing, Krosting, Julie, Sekinger, Edward, Zhang, Wenting, Hagerman, Paul J, Stenzel, Timothy T, Hadd, Andrew G, Latham, Gary J, Tassone, Flora

“…Fragile X syndrome (FXS) is a trinucleotide-repeat disease caused by the expansion of CGG sequences in the 5' untranslated region of the FMR1 (fragile X mental…”
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Targeted, High-Depth, Next-Generation Sequencing of Cancer Genes in Formalin-Fixed, Paraffin-Embedded and Fine-Needle Aspiration Tumor Specimens by Hadd, Andrew G, Houghton, Jeff, Choudhary, Ashish, Sah, Sachin, Chen, Liangjing, Marko, Adam C, Sanford, Tiffany, Buddavarapu, Kalyan, Krosting, Julie, Garmire, Lana, Wylie, Dennis, Shinde, Rupali, Beaudenon, Sylvie, Alexander, Erik K, Mambo, Elizabeth, Adai, Alex T, Latham, Gary J

“…Implementation of highly sophisticated technologies, such as next-generation sequencing (NGS), into routine clinical practice requires compatibility with…”
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Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles by Nolin, Sarah L., Sah, Sachin, Glicksman, Anne, Sherman, Stephanie L., Allen, Emily, Berry-Kravis, Elizabeth, Tassone, Flora, Yrigollen, Carolyn, Cronister, Amy, Jodah, Marcia, Ersalesi, Nicole, Dobkin, Carl, Brown, W. Ted, Shroff, Raghav, Latham, Gary J., Hadd, Andrew G.

“…We investigated the effect of AGG interruptions on fragile X repeat instability upon transmission of fragile X intermediate and small premutation alleles with…”
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Profiling Cancer Gene Mutations in Clinical Formalin‐Fixed, Paraffin‐Embedded Colorectal Tumor Specimens Using Targeted Next‐Generation Sequencing by Zhang, Liangxuan, Chen, Liangjing, Sah, Sachin, Latham, Gary J., Patel, Rajesh, Song, Qinghua, Koeppen, Hartmut, Tam, Rachel, Schleifman, Erica, Mashhedi, Haider, Chalasani, Sreedevi, Fu, Ling, Sumiyoshi, Teiko, Raja, Rajiv, Forrest, William, Hampton, Garret M., Lackner, Mark R., Hegde, Priti, Jia, Shidong

“…Purpose. The success of precision oncology relies on accurate and sensitive molecular profiling. The Ion AmpliSeq Cancer Panel, a targeted enrichment method…”
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Performance evaluation of commercial miRNA expression array platforms by Sah, Sachin, McCall, Matthew N, Eveleigh, Deepa, Wilson, Michael, Irizarry, Rafael A

“…microRNAs (miRNA) are short, endogenous transcripts that negatively regulate the expression of specific mRNA targets. The relative abundance of miRNAs is…”
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An Information-Rich CGG Repeat Primed PCR That Detects the Full Range of Fragile X Expanded Alleles and Minimizes the Need for Southern Blot Analysis by Chen, Liangjing, Hadd, Andrew, Sah, Sachin, Filipovic-Sadic, Stela, Krosting, Julie, Sekinger, Edward, Pan, Ruiqin, Hagerman, Paul J, Stenzel, Timothy T, Tassone, Flora, Latham, Gary J

“…(CGG)n repeat expansion in the FMR1 gene is associated with fragile X syndrome and other disorders. Current methods for FMR1 molecular testing rely on Southern…”
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Can Fitts' Throughput Be A Predictor Of Muscle Fatigue – A Study Based On Metacarpal Gloves? by Sah, Sachin

“…In this study, Fitts’ throughput was used to estimate throughput for metacarpal gloves. Fitts’ throughput combines speed and accuracy during target…”
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Functional DNA quantification guides accurate next-generation sequencing mutation detection in formalin-fixed, paraffin-embedded tumor biopsies by Sah, Sachin, Chen, Liangjing, Houghton, Jeffrey, Kemppainen, Jon, Marko, Adam C, Zeigler, Robert, Latham, Gary J

“…The formalin-fixed, paraffin-embedded (FFPE) biopsy is a challenging sample for molecular assays such as targeted next-generation sequencing (NGS). We compared…”
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High-resolution methylation polymerase chain reaction for fragile X analysis: Evidence for novel FMR1 methylation patterns undetected in Southern blot analyses by Chen, Liangjing, Hadd, Andrew G., Sah, Sachin, Houghton, Jeffrey F., Filipovic-Sadic, Stela, Zhang, Wenting, Hagerman, Paul J., Tassone, Flora, Latham, Gary J.

“…Fragile X syndrome is associated with the expansion of CGG trinucleotide repeats and subsequent methylation of the FMR1 gene. Molecular diagnosis of fragile X…”
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Differential expression of GNAS and KRAS mutations in pancreatic cysts by Lee, Linda S, Doyle, Leona A, Houghton, Jeffrey, Sah, Sachin, Bellizzi, Andrew M, Szafranska-Schwarzbach, Anna E, Conner, James R, Kadiyala, Vivek, Suleiman, Shadeah L, Banks, Peter A, Andruss, Bernard F, Conwell, Darwin L

“…KRAS mutations play an important role in pancreatic cancer. GNAS mutations were discovered in intraductal papillary mucinous neoplasms (IPMN). Our aim was to…”
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Investigation of MicroRNA in Pancreatic Cystic Tumors (IMPACT) Study: Differential Expression Observed Among Pancreatic Cystic Neoplasms: ACG/AstraZeneca Fellow Award: 186 by Lee, Linda, Szafranska-Schwarzbach, Anna, Wylie, Dennis, Bellizzi, Andrew, Doyle, Leona, Kadiyala, Vivek, Suleiman, Shadeah, Kemppainen, Jon, Kincaid, Andrew, Houghton, Jeffrey, McGee, Shaleena, Sah, Sachin, Banks, Peter, Andruss, Bernard, Conwell, Darwin

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Differential Expression of DNA Mutations in k-ras and GNAS in Pancreatic Cystic Neoplasms: 217 by Lee, Linda, Szafranska-Schwarzbach, Anna, Wylie, Dennis, Doyle, Leona, Bellizzi, Andrew, Kadiyala, Vivek, Suleiman, Shadeah, Kemppainen, Jon, Kincaid, Andrew, Houghton, Jeffrey, McGee, Shaleena, Sah, Sachin, Banks, Peter, Andruss, Bernard, Conwell, Darwin

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High Resolution Methylation PCR for Fragile X Analysis: Evidence for Novel FMR1 Methylation Patterns Undetected in Southern Blot Analyses by Chen, Liangjing, Hadd, Andrew, Sah, Sachin, Houghton, Jeffrey F., Filipovic-Sadic, Stela, Zhang, Wenting, Hagerman, Paul J., Tassone, Flora, Latham, Gary J.

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A Novel FMR1 PCR Method that Reproducibly Amplifies Fragile X Full Mutations in Concordance with Southern Blotting and Reliably Detects Low Abundance Expanded Alleles by Filipovic-Sadic, Stela, Sah, Sachin, Chen, Liangjing, Krosting, Julie, Sekinger, Edward, Zhang, Wenting, Hagerman, Paul J., Stenzel, Timothy T., Hadd, Andrew, Latham, Gary J., Tassone, Flora

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A High-Density MicroRNA Array for Analyzing the Expression of 15,090 Verified and Predicted Small, Non-Coding RNAs by Wilson, Michael, Leng, Nan, Sah, Sachin, Sekinger, Edward, Fletcher, Frederick, Johnson, Charles

“…We have designed and evaluated the performance of a custom Affymetrix microRNA (miRNA) microarray that enables the analysis of 15,090 unique mature miRNAs that…”
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