S. Keiles

发表

Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk

G. Chandak, A. Szabó, M. Sahin-Tóth, 2012, Gut.

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients

Tina Pesaran, C. Gau, S. Keiles, 2014, Genetics in Medicine.

Identification of CFTR, PRSS1, and SPINK1 Mutations in 381 Patients With Pancreatitis

S. Keiles, A. Kammesheidt, 2006, Pancreas.

The role of the F508C mutation in congenital bilateral absence of the vas deferens

T. Hambuch, S. Keiles, E. Sorscher, 2008, Genetics in Medicine.

The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities

J. Hoffman, N. Schreiber-Agus, R. Heim, 2014, Prenatal diagnosis.

Carrier testing for spinal muscular atrophy

K. Fischbeck, T. Crawford, S. Terry, 2010, Genetics in Medicine.

Functional analysis of eight missense mutations in the SPINK1 gene.

C. Férec, E. Masson, Jian-Min Chen, 2012, Pancreas.

Improved detection of cystic fibrosis mutations in infertility patients with DNA sequence analysis.

S. Keiles, P. Turek, A. Kammesheidt, 2004, Human reproduction.

Platelet hexosaminidase a enzyme assay effectively detects carriers missed by targeted DNA mutation analysis.

T. Hambuch, N. Schreiber-Agus, Wei-wei Sun, 2012, JIMD reports.

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders

Glenn A. Maston, Weimin Sun, C. Strom, 2015, Human mutation.

Molecular Testing for Cystic Fibrosis Carrier Status Practice Guidelines: Recommendations of the National Society of Genetic Counselors

S. Keiles, C. Zaleski, M. Strecker, 2014, Journal of Genetic Counseling.

The Validation and Clinical Implementation of BRCAplus: A Comprehensive High-Risk Breast Cancer Diagnostic Assay

Elizabeth C. Chao, Tao Wang, S. Keiles, 2014, PloS one.

The silent codon change I507‐ATC→ATT contributes to the severity of the ΔF508 CFTR channel dysfunction

Sadis Matalon, Rafal Bartoszewski, Andras Rab, 2013, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

2 Approach to Single-Gene Disorders

S. Keiles, Taosheng Huang, 2012 .

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects

M. Humbert, C. Fischer, S. Gräf, 2015, Human mutation.

Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California.

A. Thompson, K. Hardy, M. Pian, 2013, The Journal of molecular diagnostics : JMD.

Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens – Implications for newborn screening

S. Keiles, Charles L M Dunlop, A. Kammesheidt, 2006, Genetics in Medicine.

Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.

I. Schrijver, J. Oehlert, R. Moss, 2005, The Journal of molecular diagnostics : JMD.

Impact of IVS8-(TG)m(T)n on IRT and sweat chloride levels in newborns identified by California CF newborn screening.

R. Parad, S. Keiles, M. Kharrazi, 2012, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Report of two patients with associated conditions in addition to cystic fibrosis.

S. Keiles, J. Carroll, S. Jambhekar, 2010, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.