Search Results - "McGinniss, Matthew J."

MDS-associated somatic mutations and clonal hematopoiesis are common in idiopathic cytopenias of undetermined significance by Kwok, Brian, Hall, Jeff M., Witte, John S., Xu, Yin, Reddy, Prashanti, Lin, Keming, Flamholz, Rachel, Dabbas, Bashar, Yung, Aine, Al-Hafidh, Jenan, Balmert, Emily, Vaupel, Christine, El Hader, Carlos, McGinniss, Matthew J., Nahas, Shareef A., Kines, Julie, Bejar, Rafael

“…Establishing a diagnosis in patients suspected of having a myelodysplastic syndrome (MDS) can be challenging and could be informed by the identification of…”
Get full text

Stratifying Risk for Celiac Disease in a Large At-Risk United States Population by Using HLA Alleles by Pietzak, Michelle M, Schofield, Timothy C, McGinniss, Matthew J, Nakamura, Robert M

“…Background & Aims Susceptibility to celiac disease (CD) is related to HLA-DQ2 and DQ8 alleles and the heterodimers they encode. The objective of this study was…”
Get full text

Technical Standards and Guidelines for Fragile X: The First of a Series of Disease-Specific Supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics by Maddalena, Anne, Richards, Carolyn Sue, McGinniss, Matthew J, Brothman, Arthur, Desnick, Robert J, Grier, Robert E, Hirsch, Betsy, Jacky, Peter, McDowell, Geraldine A, Popovich, Bradley, Watson, Michael, Wolff, Daynna J

“…Preface: The Quality Assurance subcommittee of the ACMG Laboratory Practice committee has the mission of maintaining high technical standards for the…”
Get full text

Identification of HRAS mutations and absence of GNAQ or GNA11 mutations in deep penetrating nevi by Bender, Ryan P, McGinniss, Matthew J, Esmay, Paula, Velazquez, Elsa F, Reimann, Julie DR

“…HRAS is mutated in ∼15% of Spitz nevi, and GNAQ or GNA11 is mutated in blue nevi (46–83% and ∼7% respectively). Epithelioid blue nevi and deep penetrating nevi…”
Get full text

Multiple Property Tolerance Analysis for the Evaluation of Missense Mutations by Lee, Tai-Sung, Potts, Steven J., McGinniss, Matthew J., Strom, Charles M.

“…Computational prediction of the impact of a mutation on protein function is still not accurate enough for clinical diagnostics without additional human expert…”
Get full text

Impact of Mutation Variant Allele Frequency on Phenotype, Outcomes, and Patient Management in Myelodysplastic Syndromes by Sallman, David, Komrokji, Rami, Vaupel, Christine, Cluzeau, Thomas, McGraw, Kathy L, Al Ali, Najla H, Lancet, Jeffrey, McGinniss, Matthew J, Nahas, Shareef, Smith, Alexandar E, Kulasekararaj, Austin, Mufti, Ghulam, List, Alan, Hall, Jeff, Padron, Eric

Get full text

M1086 Prediction of Inflammatory Bowel Disease (IBD) Using Serological Testing: A Retrospective Study of Serologic Marker and Diagnostic Prediction Consistency in Repeated Test Results by Barken, Derren M, McGinniss, Matthew J, Nakamura, Robert M, Pan, Henry

Get full text

357 Serum Immune Responses to Anti-CBIR1 Flagellin (CBIR1) Correlates with HLA DQA105-DQB10201 (DQ2.5) and DQA103-DQB10302 (DQ8) in a Large Group of U.S. Patients At-Risk for Celiac Disease (N=5406) Who Are Ema Positive by Pietzak, Michelle M, Barken, Derren M, Schofield, Timothy C, McGinniss, Matthew J

Get full text

Extensive sequencing of the CFTR gene : lessons learned from the first 157 patient samples by MCGINNISS, Matthew J, CHEN, Christina, STROM, Charles M, REDMAN, Joy B, BULLER, Arlene, QUAN, Franklin, MEI PENG, GIUSTI, Robert, HANTASH, Feras M, DONGHUI HUANG, WEIMIN SUN

“…Cystic fibrosis (CF) is one of the most common monogenic diseases affecting Caucasians and has an incidence of approximately 1:3,300 births. Currently…”
Get full text

Novel and recurrent rearrangements in the CFTR gene : clinical and laboratory implications for cystic fibrosis screening by HANTASH, Feras M, REDMAN, Joy B, STARN, Kelsey, ANDERSON, Ben, BULLER, Arlene, MCGINNISS, Matthew J, QUAN, Franklin, MEI PENG, WEIMIN SUN, STROM, Charles M

“…Because standard techniques used to detect mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene do not detect single or multiple…”
Get full text

Characterization of a Recurrent Novel Large Duplication in the Cystic Fibrosis Transmembrane Conductance Regulator Gene by Hantash, Feras M, Redman, Joy B, Goos, Dana, Kammesheidt, Anja, McGinniss, Matthew J, Sun, Weimin, Strom, Charles M

“…Recently, DNA rearrangements in the cystic fibrosis transmembrane conductance regulator ( CFTR ) gene have been described with increasing frequency. These…”
Get full text

CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype by Sun, Weimin, Anderson, Ben, Redman, Joy, Milunsky, Aubrey, Buller, Arlene, McGinniss, Matthew J, Quan, Franklin, Anguiano, Arturo, Huang, Stephen, Hantash, Feras, Strom, Charles

“…The study's purpose was to understand the molecular basis for different clinical phenotypes of the 5T variant, a tract of 5 thymidines in intron 8 of the…”
Get full text

Molecular screening for diseases frequent in Ashkenazi Jews: Lessons learned from more than 100,000 tests performed in a commercial laboratory by Strom, Charles M., Crossley, Beryl, Redman, Joy B., Quan, Franklin, Buller, Arlene, McGinniss, Matthew J., Sun, Weimin

“…Purpose: To determine the frequency of carriers of Ashkenazi Jewish (AJ) genetic diseases in the US population and compare these numbers with previously…”
Get full text

Technology challenges in screening single gene disorders by Braun, Andreas, Roth, Richard, McGinniss, Matthew J

“…The completion of the human genome project and the accelerated discovery of genes responsible for single gene disorders will allow for the preventive screening…”
Get full text

Technical validation of a multiplex platform to detect thirty mutations in eight genetic diseases prevalent in individuals of Ashkenazi Jewish descent by Strom, Charles M., Janeczko, Richard A., Anderson, Ben, Redman, Joy, Quan, Franklin, Buller, Arlene, McGinniss, Matthew J., Sun, Wei Min

“…This study determines the analytic accuracy of a Luminex bead-based commercial analyte-specific reagent for the simultaneous analysis of 30 mutations prevalent…”
Get full text

Development of a Web-Based Query Tool for Quality Assurance of Clinical Molecular Genetic Test Results by McGinniss, Matthew J, Chen, Rebecca, Pratt, Victoria M, Buller, Arlene, Quan, Franklin, Strom, Charles M, Sun, Weimin, Crossley, Beryl

“…The College of American Pathologists molecular pathology checklist item (MOL.20550) calls for periodic review of molecular genetic statistics, including…”
Get full text

Detection of 677CT/1298AC “double variant” chromosomes: Implications for interpretation of MTHFR genotyping results by Brown, Nicholas M., Pratt, Victoria M., Buller, Arlene, Pike-Buchanan, Lisa, Redman, Joy B., Sun, Weimin, Chen, Rebecca, Crossley, Beryl, McGinniss, Matthew J., Quan, Franklin, Strom, Charles M.

“…Purpose: Genotyping 37,026 individuals as part of a thrombophilia evaluation, we determined and analyzed the genotypic frequencies of the 677CT and 1298AC…”
Get full text

Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening by Hantash, Feras M., Redman, Joy B., Starn, Kelsey, Anderson, Ben, Buller, Arlene, McGinniss, Matthew J., Quan, Franklin, Peng, Mei, Sun, Weimin, Strom, Charles M.

Get full text

Multiple property tolerance analysis for the evaluation of missense mutations by Lee, Tai-Sung, Potts, Steven J, McGinniss, Matthew J, Strom, Charles M

“…Computational prediction of the impact of a mutation on protein function is still not accurate enough for clinical diagnostics without additional human expert…”
Get full text

Carrier Screening and Heterozygote Testing by McGinniss, Matthew J, McGinniss, Molly A

Get full text