Professor of Molecular and Medical GeneticsSchool of Medicine
Program in Molecular and Cellular BiosciencesSchool of Medicine
Publications
"Recommendations from the EGAPP Working Group" Genetics in Medicine 2014
"In situ hybridization shows direct evidence of skewed X inactivation in one of monozygotic twin females manifesting Duchenne muscular dystrophy" American Journal of Medical Genetics, Part A 1993
"Prenatal screening for cystic fibrosis" Expert Review of Molecular Diagnostics January 2004
"Non-specific X linked mental retardation with aphasia exhibiting genetic linkage to chromosomal region Xp11" Journal of Medical Genetics 1992
"A homozygous mutation in MSH6 causes Turcot syndrome" Clinical Cancer Research July 1 2005
"Estimated analytic validity of HFE C282Y mutation testing in population screening" Genetics in Medicine November 2003
"Diagnostic DNA testing for X-linked ocular albinism (OA1) with a hierarchical mutation screening protocol" Genetic Testing and Molecular Biomarkers 2002
"Southern analysis for detection of CAG repeat expansions associated with dentatorubral pallidoluysian atrophy" Human Genetics March 1997
"ACMG recommendations for standards for interpretation and reporting of sequence variations" Genetics in Medicine April 2008
"Relative stability of a minimal CTG repeat expansion in a large kindred with myotonic dystrophy" Neurology May 1998
"Ashkenazi jewish population frequencies for common mutations in BRCA1 and BRCA2" Nature Genetics 1996
"Dystrophin and DNA diagnosis in a large pediatric muscle clinic" Journal of Child Neurology 1994
"Relevance of RET proto-oncogene mutations in sporadic medullary thyroid carcinoma" Journal of Clinical Endocrinology and Metabolism 1996
"Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6" Journal of Molecular Diagnostics October 2005
"Detection of sequence variations in the adenomatous polyposis coli (APC) gene using denaturing high-performance liquid chromatography" Genetic Testing and Molecular Biomarkers 2001
"Methods-based proficiency testing in molecular genetic pathology" Journal of Molecular Diagnostics 2014
"Recommendations of the 2006 Human Variome Project meeting" Nature Genetics April 2007
"Alternative approaches to proficiency testing in molecular genetics" Clinical Chemistry May 1 2003
"A comparative study of five technologically diverse CFTR testing platforms" Journal of Molecular Diagnostics July 2007
"Gene symbol" Human Genetics July 2006
"Laboratory standards and guidelines for population-based cystic fibrosis carrier screening" Genetics in Medicine 2001
"Deletion detection in the dystrophin gene by multiplex gap ligase chain reaction and immunochromatographic strip technology" Human Mutation 1995
"Genetic test evaluation" American Journal of Epidemiology August 15 2002
"The effect of insulin and glucose on fructose-2,6-P2 in hepatocytes" Biochemical and Biophysical Research Communications November 30 1982
"Reliability of KRAS mutation testing in metastatic colorectal cancer patients across five laboratories" BMC Research Notes 2012
"Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma [2]" Journal of Medical Genetics 2001
"Technical standards and guidelines for fragile X" Genetics in Medicine 2001
"DMD-specific FISH probes are diagnostically useful in the detection of female carriers of DMD gene deletions" Neurology June 1997
"Risk categorization for oversight of laboratory-developed tests for inherited conditions" Genetics in Medicine April 2013
"Molecular definition of a mitochondrially encoded mouse minor histocompatibility antigen" Cold Spring Harbor Symposia on Quantitative Biology 1989