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1

Allelic diversity in MCAD deficiency: The biochemical classification of 54 variants identified during 5 years of ACADM sequencing

Emily H. Smith, Cheryl Thomas, David McHugh, Dimitar Gavrilov, Kimiyo Raymond, Piero Rinaldo, Silvia Tortorelli, Dietrich Matern, W. Edward Highsmith, Devin Oglesbee

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 313 KB

english, 2010

2

Clinical features and progression of cardiomyopathy in patients with Friedreich's ataxia

Pureza, Vincent, Hasadsri, Linda, Highsmith, W. Edward, Oglesbee, Devin

Journal:

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

3

Development of Genomic DNA Reference Materials for Genetic Testing of Disorders Common in People of Ashkenazi Jewish Descent

Kalman, Lisa, Wilson, Jean Amos, Buller, Arlene, Dixon, John, Edelmann, Lisa, Geller, Louis, Highsmith, William Edward, Holtegaard, Leonard, Kornreich, Ruth, Rohlfs, Elizabeth M.

Journal:

The Journal of Molecular Diagnostics

Year:

2009

Language:

english

File:

PDF, 100 KB

english, 2009

4

Identification of a splice site mutation (2789+5 G>A) associated with small amounts of normal CFTRmRNA and mild cystic fibrosis

W. Edward Highsmith Jr., Lauranell H. Burch, Zhaoqing Zhou, John C. Olsen, Theresa V. Strong, Terry Smith, Kenneth J. Friedman, Lawrence M. Silverman, Richard C. Boucher, Francis S. Collins, Michael R

Journal:

Year:

1997

Language:

english

File:

PDF, 210 KB

english, 1997

5

Single-strand conformation polymorphism and heteroduplex analysis for gel-based mutation detection

Arun J. Nataraj, Isabelle Olivos-Glander, Noriko Kusukawa, W. Edward Highsmith Jr.

Journal:

ELECTROPHORESIS

Year:

1999

Language:

english

File:

PDF, 122 KB

english, 1999

6

Use of DNA toolbox for the characterization of mutation scanning methods. II: Evaluation of single-strand conformation polymorphism analysis

W. Edward Highsmith Jr., Arun J. Nataraj, Qian Jin, Jacquelyn M. O'Connor, Sohbi H. El-Nabi, Noriko Kusukawa, Mark M. Garner

Journal:

ELECTROPHORESIS

Year:

1999

Language:

english

File:

PDF, 163 KB

english, 1999

7

Phage display technology: clinical applications and recent innovations

Hassan M.E Azzazy, W.Edward Highsmith Jr

Journal:

Clinical Biochemistry

Year:

2002

Language:

english

File:

PDF, 495 KB

english, 2002

8

The Mitochondrial Disease Biobank at Mayo Clinic: Three mighty years and counting

Hasadsri, Linda, Eisenberg, Leah R., Anderson, Claire, Hesemann, Jennifer, Schultz, Emily, Edwards, Kelly K., Bryant, Sandra C., Highsmith, W. Edward, Oglesbee, Devin

Journal:

Year:

2013

Language:

english

File:

PDF, 98 KB

english, 2013

9

Development and Characterization of Reference Materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 Genetic Testing

Barker, Shannon D., Bale, Sherri, Booker, Jessica, Buller, Arlene, Das, Soma, Friedman, Kenneth, Godwin, Andrew K., Grody, Wayne W., Highsmith, Edward, Kant, Jeffery A., Lyon, Elaine, Mao, Rong, Monag

Journal:

The Journal of Molecular Diagnostics

Year:

2009

Language:

english

File:

PDF, 119 KB

english, 2009

10

Use of a DNA toolbox for the characterization of mutation scanning methods. I: Construction of the toolbox and evaluation of heteroduplex analysis

W. Edward Highsmith Jr., Qian Jin, Arun J. Nataraj, Jacquelyn M. O'Connor, Valerie D. Burland, Wendy R. Baubonis, Foner P. Curtis, Noriko Kusukawa, Mark M. Garner

Journal:

ELECTROPHORESIS

Year:

1999

Language:

english

File:

PDF, 212 KB

english, 1999

11

Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and risk for pancreatic adenocarcinoma

Robert R. McWilliams, Gloria M. Petersen, Kari G. Rabe, Leonard M. Holtegaard, Pamela J. Lynch, Michele D. Bishop, W. Edward Highsmith Jr

Journal:

Year:

2010

Language:

english

File:

PDF, 146 KB

english, 2010

12

Telomerase activity measurement in magnetically captured epithelial cells: Comparison of slab-gel and capillary electrophoresis

Jennifer L. Hess, Donald H. Atha, Jing-fan Xu, W. Edward Highsmith Jr.

Journal:

ELECTROPHORESIS

Year:

2004

Language:

english

File:

PDF, 217 KB

english, 2004

13

High-throughput analysis of telomerase by capillary electrophoresis

Donald H. Atha, Karen Miller, Anita D. Sanow, Jingfan Xu, Jennifer L. Hess, Osmond C. Wu, Wendy Wang, Sudhir Srivastava, W. Edward Highsmith

Journal:

ELECTROPHORESIS

Year:

2003

Language:

english

File:

PDF, 141 KB

english, 2003

14

Rapid DNA haplotyping using a multiplex heteroduplex approach: Application to duchenne muscular dystrophy carrier testing

Thomas W. Prior, Gail D. Wenger, Audrey C. Papp, Pamela J. Snyder, Mary S. Sedra, Claire Bartolo, Jay W. Moore, W. Edward Highsmith

Journal:

Year:

1995

Language:

english

File:

PDF, 703 KB

english, 1995

15

Comparison of three methods for genotyping the UGT1A1 (TA)n repeat polymorphism

Linnea M. Baudhuin, W. Edward Highsmith, Jennifer Skierka, Leonard Holtegaard, Brenda E. Moore, Dennis J. O'Kane

Journal:

Clinical Biochemistry

Year:

2007

Language:

english

File:

PDF, 758 KB

english, 2007

16

MYH Y165C and G382D mutations in hepatocellular carcinoma and cholangiocarcinoma patients

Linnea M. Baudhuin, Lewis R. Roberts, Felicity T.B. Enders, Russell L. Swanson, Teresa A. Mettler, Ileana Aderca, Linda M. Stadheim, W. Edward Highsmith

Journal:

Journal of Cancer Research and Clinical Oncology

Year:

2006

Language:

english

File:

PDF, 194 KB

english, 2006

17

Solid phase and solution synthesis of NvocLys(CO(CH2)5NH–NBD)OCH2CN, a trifunctional fluorescent lysine derivative

Kshitij A. Patkar, W. Edward Highsmith, Jane V. Aldrich

Journal:

Year:

2009

Language:

english

File:

PDF, 216 KB

english, 2009

18

DNA Mutation Detection in a Polymer Microfluidic Network Using Temperature Gradient Gel Electrophoresis

Buch, Jesse S., Kimball, Christopher, Rosenberger, Frederick, Highsmith,, W. Edward, DeVoe, Don L., Lee, Cheng S.

Journal:

Analytical Chemistry

Year:

2004

Language:

english

File:

PDF, 134 KB

english, 2004

19

Improved enzymatic hydrolysis of conjugated bile acids

W. Edward Highsmith, Paul M. Hyde

Journal:

Year:

1987

Language:

english

File:

PDF, 281 KB

english, 1987

20

Hereditary hemochromatosis: Laboratory evaluation

Thomas P. Moyer, W. Edward Highsmith, Thomas C. Smyrk, John B. Gross Jr.

Journal:

Clinica Chimica Acta

Year:

2011

Language:

english

File:

PDF, 867 KB

english, 2011

21

Isocitrate dehydrogenase 1 and 2 mutations in cholangiocarcinoma

Benjamin R. Kipp, Jesse S. Voss, Sarah E. Kerr, Emily G. Barr Fritcher, Rondell P. Graham, Lizhi Zhang, W. Edward Highsmith, Jun Zhang, Lewis R. Roberts, Gregory J. Gores, Kevin C. Halling

Journal:

Human Pathology

Year:

2012

Language:

english

File:

PDF, 1.37 MB

english, 2012

22

Molecular profiling of cholangiocarcinoma shows potential for targeted therapy treatment decisions

Voss, Jesse S., Holtegaard, Leonard M., Kerr, Sarah E., Fritcher, Emily G. Barr, Roberts, Lewis R., Gores, Gregory J., Zhang, Jun, Highsmith, W. Edward, Halling, Kevin C., Kipp, Benjamin R.

Journal:

Human Pathology

Year:

2013

Language:

english

File:

PDF, 554 KB

english, 2013

23

RET Proto-Oncogene Genotyping Using Unlabeled Probes, the Masking Technique, and Amplicon High-Resolution Melting Analysis

Margraf, Rebecca L., Mao, Rong, Highsmith, W. Edward, Holtegaard, Leonard M., Wittwer, Carl T.

Journal:

The Journal of Molecular Diagnostics

Year:

2007

Language:

english

File:

PDF, 1.19 MB

english, 2007

24

Development and Clinical Implementation of a Combination Deletion PCR and Multiplex Ligation-Dependent Probe Amplification Assay for Detecting Deletions Involving the Human Î±-Globin Gene Cluster

Kipp, Benjamin R., Roellinger, Samantha E., Lundquist, Patrick A., Highsmith, W. Edward, Dawson, D. Brian

Journal:

The Journal of Molecular Diagnostics

Year:

2011

Language:

english

File:

PDF, 1.85 MB

english, 2011

25

Molecular Diagnostics ||

Highsmith,, W. Edward

Year:

2014

Language:

english

File:

PDF, 5.92 MB

english, 2014

26

A Novel Mutation in the Cystic Fibrosis Gene in Patients with Pulmonary Disease but Normal Sweat Chloride Concentrations

Highsmith, W. Edward, Burch, Lauranell H., Zhou, Zhaoqing, Olsen, John C., Boat, Thomas E., Spock, Alexander, Gorvoy, Jack D., Quittell, Lynne, Friedman, Kenneth J., Silverman, Lawrence M., Boucher, R

Journal:

Boston Medical and Surgical Journal

Year:

1994

Language:

english

File:

PDF, 6.03 MB

english, 1994

27

Discordant results between biochemical and molecular transthyretin assays: lessons learned from a unique testing algorithm at the Mayo Clinic

REDDI, HONEY V., THOMAS, BRITTANY C., WILLKOMM, KURT S., FERBER, MATTHEW J., RUMILLA, KANDELARIA M., RAYMOND, KIMIYO M., O’BRIEN, JOHN F., HIGHSMITH, W. EDWARD

Journal:

Journal of Genetics

Year:

2013

Language:

english

File:

PDF, 806 KB

english, 2013

28

Molecular Diagnostics || Next Generation Clinical Diagnostics: The Sequence of Events

Highsmith,, W. Edward

Year:

2014

Language:

english

File:

PDF, 563 KB

english, 2014

29

Molecular Diagnostics || Clinical FISH Testing for the Diagnosis of Solid Tumors

Highsmith,, W. Edward

Year:

2014

Language:

english

File:

PDF, 284 KB

english, 2014

30

Intellectual, motor and sensory disturbances

Jacob, Eapen K., Edwards, William D., Zucker, Mark, D'Cruz, Cyril, Seshan, Surya V., Crow, Frank W., Highsmith, W. Edward

Journal:

Brain and Development

Year:

1985

Language:

english

File:

PDF, 1024 KB

english, 1985

31

Homozygous Transthyretin Mutation in an African American Male

Jacob, Eapen K., Edwards, William D., Zucker, Mark, D'Cruz, Cyril, Seshan, Surya V., Crow, Frank W., Highsmith, W. Edward

Journal:

The Journal of Molecular Diagnostics

Year:

2007

Language:

english

File:

PDF, 1.40 MB

english, 2007

32

The Germline MLH1 K618A Variant and Susceptibility to Lynch Syndrome-Associated Tumors

Medeiros, Fabiola, Lindor, Noralane M., Couch, Fergus J., Highsmith, W. Edward

Journal:

The Journal of Molecular Diagnostics

Year:

2012

Language:

english

File:

PDF, 355 KB

english, 2012

33

Relationship Between Age-Related Macular Degeneration-Associated Variants of Complement Factor H and LOC387715 With Coronary Artery Disease

Pulido, Jose S., McConnell, Joseph P., Peterson, Lisa M., Highsmith, W. Edward, Lennon, Ryan J., Bryant, Sandra C., Berger, Peter B., Somers, Virend

Journal:

Mayo Clinic Proceedings

Year:

2007

Language:

english

File:

PDF, 71 KB

english, 2007

34

Homozygosity for the V122I Mutation in Transthyretin Is Associated with Earlier Onset of Cardiac Amyloidosis in the African American Population in the Seventh Decade of Life

Reddi, Honey V., Jenkins, Sarah, Theis, Jason, Thomas, Brittany C., Connors, Lawreen H., Van Rhee, Frits, Highsmith, W. Edward

Journal:

The Journal of Molecular Diagnostics

Year:

2014

Language:

english

File:

PDF, 1.20 MB

english, 2014

35

Nine Novel Germline Gene Variants in the RET Proto-Oncogene Identified in Twelve Unrelated Cases

Ahmed, Syed A., Snow-Bailey, Karen, Highsmith, W. Edward, Sun, Weimin, Fenwick, Raymond G., Mao, Rong

Journal:

The Journal of Molecular Diagnostics

Year:

2005

Language:

english

File:

PDF, 231 KB

english, 2005

36

Biological Validation of Differentially Expressed Genes in Chronic Lymphocytic Leukemia Identified by Applying Multiple Statistical Methods to Oligonucleotide Microarrays

Abruzzo, Lynne V., Wang, Jing, Kapoor, Mini, Medeiros, L. Jeffrey, Keating, Michael J., Highsmith, W. Edward, Barron, Lynn L., Cromwell, Candy C., Coombes, Kevin R.

Journal:

The Journal of Molecular Diagnostics

Year:

2005

Language:

english

File:

PDF, 1.46 MB

english, 2005

37

Renal Amyloidosis Associated With a Novel Sequence Variant of Gelsolin

Sethi, Sanjeev, Theis, Jason D., Quint, Patrick, Maierhofer, William, Kurtin, Paul J., Dogan, Ahmet, Highsmith, Edward W.

Journal:

American Journal of Kidney Diseases

Year:

2013

Language:

english

File:

PDF, 3.20 MB

english, 2013

38

Development of Genomic Reference Materials for Cystic Fibrosis Genetic Testing

Pratt, Victoria M., Caggana, Michele, Bridges, Christina, Buller, Arlene M., DiAntonio, Lisa, Highsmith, W. Edward, Holtegaard, Leonard M., Muralidharan, Kasinathan, Rohlfs, Elizabeth M., Tarleton, Ja

Journal:

The Journal of Molecular Diagnostics

Year:

2009

Language:

english

File:

PDF, 112 KB

english, 2009

39

Consensus Characterization of 16 FMR1 Reference Materials: A Consortium Study

Amos Wilson, Jean, Pratt, Victoria M., Phansalkar, Amit, Muralidharan, Kasinathan, Highsmith, W. Edward, Beck, Jeanne C., Bridgeman, Scott, Courtney, Ebony M., Epp, Lidia, Ferreira-Gonzalez, Andrea, H

Journal:

The Journal of Molecular Diagnostics

Year:

2008

Language:

english

File:

PDF, 296 KB

english, 2008

40

The Suitability of Matrix Assisted Laser Desorption/Ionization Time of Flight Mass Spectrometry in a Laboratory Developed Test Using Cystic Fibrosis Carrier Screening as a Model

Farkas, Daniel H., Miltgen, Nicholas E., Stoerker, Jay, van den Boom, Dirk, Highsmith, W. Edward, Cagasan, Lesley, McCullough, Ron, Mueller, Reinhold, Tang, Lin, Tynan, John, Tate, Courtney, Bombard,

Journal:

The Journal of Molecular Diagnostics

Year:

2010

Language:

english

File:

PDF, 350 KB

english, 2010

41

Clinical Proteome Informatics Workbench Detects Pathogenic Mutations in Hereditary Amyloidoses

Dasari, Surendra, Theis, Jason D., Vrana, Julie A., Zenka, Roman M., Zimmermann, Michael T., Kocher, Jean-Pierre A., Highsmith, W. Edward, Kurtin, Paul J., Dogan, Ahmet

Journal:

Journal of Proteome Research

Year:

2014

Language:

english

File:

PDF, 1.25 MB

english, 2014

42

Denaturing gradient-based two-dimensional gene mutation scanning in a polymer microfluidic network

Buch, Jesse S., Rosenberger, Frederick, Highsmith, Jr., W. Edward, Kimball, Christopher, DeVoe, Don L., Lee, Cheng S.

Journal:

Year:

2005

Language:

english

File:

PDF, 490 KB

english, 2005

43

Quintuple α-Globin Gene: A Novel Allele in a Sudanese Man

Cook, Rachel J., Hoyer, James D., Edward Highsmith, W.

Journal:

Year:

2006

Language:

english

File:

PDF, 98 KB

english, 2006

44

A Splice-Site Mutation in CCM1/KRIT1 is Associated with Retinal and Cerebral Cavernous Hemangioma

Kitzmann, Anna S., Pulido, Jose S., Ferber, Matthew J., Highsmith, W. Edward, Babovic-Vuksanovic, Dusica

Journal:

Ophthalmic Genetics

Year:

2006

Language:

english

File:

PDF, 632 KB

english, 2006

45

Viral Inactivation of Vesicular Stomatitis Virus in Normal Human Serum by Cross-Linked Polyvinylpyrrolidone

Frank A. Highsmith, Matthew Caple, Benjamin Walthall, Edward Shanbrom and William N. Drohan

Journal:

The Journal of Infectious Diseases

Year:

1993

Language:

english

File:

PDF, 1.00 MB

english, 1993

46

Systemic transthyretin amyloidosis in a patient with bent spine syndrome

Rezania, Kourosh, Pytel, Peter, Smit, Laurel J., Mastrianni, James, Dina, Michelle A., Highsmith, W. Edward, Dogan, Ahmet

Journal:

Year:

2013

Language:

english

File:

PDF, 2.59 MB

english, 2013

47

Identifying and Quantifying Sources of Variation in Microarray Data Using High-Density cDNA Membrane Arrays

Coombes, Kevin R., Highsmith, W. Edward, Krogmann, Tammy A., Baggerly, Keith A., Stivers, David N., Abruzzo, Lynne V.

Journal:

Journal of Computational Biology

Year:

2002

Language:

english

File:

PDF, 444 KB

english, 2002

48

Telomerase as a diagnostic and therapeutic target for cancer

Doyle, L Austin, Highsmith, W Edward

Journal:

Expert Review of Anticancer Therapy

Year:

2002

Language:

english

File:

PDF, 179 KB

english, 2002

49

Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical disease

Cocanougher, Benjamin, Aypar, Umut, McDonald, Amber, Hasadsri, Linda, Bennett, Michael J., Edward Highsmith, W., D'Aco, Kristin

Journal:

Molecular Genetics and Metabolism Reports

Year:

2015

Language:

english

File:

PDF, 688 KB

english, 2015

50

Molecular Diagnostics || Laboratory Testing for HIV Infection: Advances After 28 Years

Highsmith,, W. Edward

Year:

2014

Language:

english

File:

PDF, 745 KB

english, 2014

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