T. Scholl

发表

Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia.

Kenneth Offit, Mark Robson, Larry Norton, 2003, Journal of the National Cancer Institute.

Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia.

Jakub Tolar, John E Wagner, Thomas Scholl, 2004, Blood.

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

A. Zharkikh, S. Tavtigian, Alun Thomas, 2005, Journal of Medical Genetics.

Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals.

Sean V Tavtigian, Thomas Scholl, B. Ward, 2002, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

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.

Cystic fibrosis carrier testing in an ethnically diverse US population.

R. Heim, N. Nagan, T. Scholl, 2011, Clinical chemistry.

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

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

Diagnose angeborener Störungen der Thrombozytenfunktion

O. Meyer, T. Scholl, C. Geisen, 2014, Hämostaseologie.

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.

A characterization of genetic variants in BRCA1 intron 8 identifies a mutation and a polymorphism.

B. Ward, D. Pruss, T. Scholl, 1999, Mutation research.

Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.

Y. Chien, W. Hwu, T. Scholl, 2010, Molecular genetics and metabolism.

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

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

The human sex ratio from conception to birth

D. Steinsaltz, S. Orzack, J. Stubblefield, 2015, Proceedings of the National Academy of Sciences.

Chromosomal microarray versus karyotyping for prenatal diagnosis.

D. Ledbetter, L. Shaffer, Ankita Patel, 2012, The New England journal of medicine.

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.

Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.

J. Hopper, A. Spurdle, M. Southey, 2006, Cancer research.

Biochemical and genetic characterisation shows that the BRCA1 IVS20 insertion is a polymorphism

B. Ward, D. Pruss, T. Scholl, 1999, Journal of medical genetics.

BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast‐ovarian cancer

B. Ward, D. Pruss, J. Reid, 2009, Cancer.

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.

Chromosomal microarray versus karyotyping for prenatal diagnosis

D. Ledbetter, L. Shaffer, Ankita Patel, 2013 .

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.

Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals.

B. Ward, S. Tavtigian, D. Pruss, 2002, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Differences in SMN1 allele frequencies among ethnic groups within North America

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

Clinical significance of MUC1, MUC2 and CK17 expression patterns for diagnosis of pancreatobiliary arcinoma

T. Scholl, B. Horten, M. Gangi, 2012, Biotechnic & histochemistry : official publication of the Biological Stain Commission.

Prediction of MLH1 and MSH2 mutations in Lynch syndrome.

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

Cytoplasmic Immunoglobulin Fluorescence In Situ Hybridization (cIg FISH) Enhances the Quantitative Detection of Chromosome Abnormalities In Plasma Cell Neoplasms Compared to Conventional FISH

S. Jagannath, Hai-Su Yang, T. Scholl, 2010 .

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.