Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL

Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: Case series, review and follow-up guidelines

(2011) Johanna C. Herkert et al.   EUROPEAN JOURNAL OF CANCER

Avoidance of pseudogene interference in the detection of 3′ deletions in PMS2

(2011) Cecily P. Vaughn et al.   HUMAN MUTATION

A single-sample method for normalizing and combining full-resolution copy numbers from multiple platforms, labs and analysis methods

(2009) H. Bengtsson et al.   BIOINFORMATICS

Multidirectional tumor-suppressive activity of AIMP2/p38 and the enhanced susceptibility of AIMP2 heterozygous mice to carcinogenesis

(2009) J. W. Choi et al.   CARCINOGENESIS

Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications

(2009) HT Lynch et al.   CLINICAL GENETICS

AIMP2 promotes TNF -dependent apoptosis via ubiquitin-mediated degradation of TRAF2

(2009) J. W. Choi et al.   JOURNAL OF CELL SCIENCE

The Clinical Phenotype of Lynch Syndrome Due to Germ-Line PMS2 Mutations

(2008) Leigha Senter et al.   GASTROENTEROLOGY

Feasibility of Screening for Lynch Syndrome Among Patients With Colorectal Cancer

(2008) Heather Hampel et al.   JOURNAL OF CLINICAL ONCOLOGY

Mapping and sequencing of structural variation from eight human genomes

(2008) Jeffrey M. Kidd et al.   NATURE

AIMP2/p38, the scaffold for the multi-tRNA synthetase complex, responds to genotoxic stresses via p53

(2008) J. M. Han et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference

(2007) J. Etzler et al.   HUMAN MUTATION