We invite you to read and download
copies of publications by our staff and collaborators.
Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens – Implications for newborn screening.
Genet Med. 2006;8:557-562. Please call us for reprint.
Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis.
Pancreas. 2006;33(3):221-227. Please call us for reprint.
CFTR Genotypes in Late Diagnosed versus Very Early Diagnosed CF Patients.
2006 North American Cystic Fibrosis Conference
Expanding the Options for Canavan Disease Testing in Non-Jewish Populations: Full Gene Analysis of ASPA
2006 Annual Meeting of the National Society of Genetic Counselors
Closing the Gap in Non-Ashkenazi Jewish Tay-Sachs Detection: Full Gene Sequence Analysis of HEXA.
2006 Annual Meeting of the National Society of Genetic Counselors
Homozygous CFTR Mild Mutations Detected in CF Patients Diagnosed at an Earlier Age.
2006 Annual Meeting of the Association for Molecular Pathology
Identification of a novel combination of cystic fibrosis mutations in an asymptomatic woman following prenatal risk assessment.
2006 Annual Meeting of the American College of Medical Genetics
Comprehensive CFTR analysis in Hispanic CF patients: novel mutations and assessment of a population-specific mutation spectrum.
J Mol Diag. 2005; 7:289-299
A case study illustrating the benefits of full sequence analysis
for diagnosing CF.
2005
Annual Meeting of the American College of Medical Genetics
100% CFTR mutation detection in a group of patients affected
with CF using The Ambry Test®: CF AMPLIFIED.
2005 North American Cystic Fibrosis Conference
Comprehensive gene sequence analysis from bloodspot and saliva
DNA. 2005 Annual Meeting of the Association for Molecular
Pathology
Improved detection of cystic fibrosis mutations in infertility
patients with DNA sequence analysis.
Hum Reprod. 2004;19:540-546
