B. Hendrickson

发表

Does the survival motor neuron copy number variation play a role in the onset and severity of sporadic amyotrophic lateral sclerosis in Malians?

K. Fischbeck, Barrington G. Burnett, S. Traore, 2016, eNeurologicalSci.

Bioinformatics and Human Identification in Mass Fatality Incidents: The World Trade Center Disaster *

Tom Scholl, Benoît Leclair, Robert Shaler, 2007, Journal of forensic sciences.

Two rare novel polymorphisms in the D8S1179 and D13S317 markers and method to mitigate their impact on human identification.

T. Scholl, T. Judkins, B. Hendrickson, 2004, Croatian medical journal.

Genetics of low spinal muscular atrophy carrier frequency in sub‐Saharan Africa

A. Singleton, K. Fischbeck, M. Fay, 2014, Annals of neurology.

Haplotype pair analysis: application to the identification of clinically significant partial gene deletions in BRCA1;

B. Hendrickson, 2002 .

Interpreting three new and unique BRCA1 mutations in an Ashkenazi Jewish patient

D. Fishman, T. Frank, T. Scholl, 2002, Clinical genetics.

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

N. Nagan, T. Scholl, V. Akmaev, 2011, European Journal of Human Genetics.

A Biochemical analysis demonstrates that the BRCA1 intronic variant IVS10-2A→C is a mutation

B. Ward, A. Brothman, T. Scholl, 2003, Journal of Human Genetics.

The BRCA2 genetic variant IVS7 + 2T → G is a mutation

B. Ward, D. Pruss, A. Brothman, 2000, Journal of Human Genetics.

Multiple rare nonsynonymous variants in the adenomatous polyposis coli gene predispose to colorectal adenomas.

Anthony R. Dallosso, Kristilyn Eliason, Brant C Hendrickson, 2008, Cancer research.

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

B. Ward, T. Scholl, A. Deffenbaugh, 2005, Cancer research.

Prevalence of five previously reported and recurrent BRCA1 genetic rearrangement mutations in 20,000 patients from hereditary breast/ovarian cancer families

B. Ward, Amie Deffenbaugh, T. Scholl, 2005, Genes, chromosomes & cancer.

Single nucleotide polymorphisms in clinical genetic testing: the characterization of the clinical significance of genetic variants and their application in clinical research for BRCA1.

T. Scholl, A. Deffenbaugh, T. Judkins, 2005, Mutation research.

Application of haplotype pair analysis for the identification of hemizygous loci

E. Lyon, D. Pruss, T. Scholl, 2003, Journal of medical genetics.

A GC-wave correction algorithm that improves the analytical performance of aCGH.

Matthew S. Lebo, Matthew S Lebo, Viatcheslav R Akmaev, 2012, The Journal of molecular diagnostics : JMD.

Evidence for Common Ancestral Origin of a Recurring BRCA1 Genomic Rearrangement Identified in High-Risk Hispanic Families

G. Tomlinson, T. Scholl, J. Weitzel, 2007, Cancer Epidemiology Biomarkers & Prevention.

Differences in SMN1 allele frequencies among ethnic groups within North America

T. Scholl, V. Akmaev, B. Hendrickson, 2009, Journal of Medical Genetics.

Prediction of MLH1 and MSH2 mutations in Lynch syndrome.

Ewout W Steyerberg, Elena M Stoffel, Thomas Scholl, 2006, JAMA.

Accurate STR allele designations at the FGA and vWA loci despite primer site polymorphisms.

Brant C Hendrickson, Thomas Scholl, B. Ward, 2004, Journal of forensic sciences.

The potential for increased clinical sensitivity in genetic testing for polyposis colorectal cancer through the analysis of MYH mutations in North American patients

E. Lyon, B. Ward, T. Scholl, 2005, Journal of Medical Genetics.

A multi-exonic BRCA1 deletion identified in multiple families through single nucleotide polymorphism haplotype pair analysis and gene amplification with widely dispersed primer sets.

B. Ward, T. Scholl, A. Deffenbaugh, 2005, The Journal of molecular diagnostics : JMD.