C. W. Vockley

发表

Ethical Issues in Cancer Genetics: 1) Whose Information Is It?

A. Patenaude, J. Garber, K. Dent, 2006, Journal of Genetic Counseling.

The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes

G. Francis, David Jelínek, W. S. Garver, 2010, Journal of Lipid Research.

Genetic Cancer Risk Assessment and Counseling: Recommendations of the National Society of Genetic Counselors

Julie O. Culver, Susan Manley, A. Trepanier, 2004, Journal of Genetic Counseling.

Pedigree Analysis and Risk Assessment

C. W. Vockley, 2007 .

Ethical Considerations When Including Lysosomal Storage Disorders in Newborn Screening Programs

Andrea M. Atherton, C. W. Vockley, 2015, Current Genetic Medicine Reports.

Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System.

J. Vockley, C. W. Vockley, C. Cameron, 2016, Molecular genetics and metabolism.

Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers.

T. Sellers, D. Schaid, F. Couch, 2001, Journal of the National Cancer Institute.

Microsatellite instability in colorectal cancer: different mutator phenotypes and the principal involvement of hMLH1.

D. Schaid, S. Thibodeau, S. McDonnell, 1998, Cancer research.

Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation

J. Vockley, B. Seminotti, C. W. Vockley, 2019, Scientific Reports.

Identification of 58 novel mutations in Niemann‐Pick disease type C: Correlation with biochemical phenotype and importance of PTC1‐like domains in NPC1

Karen Snow, M. Patterson, P. Lundquist, 2003, Human mutation.

Microsatellite Instabifity in Colorectal Cancer : Different Mutator Phenotypes and the Principal Involvement of hMLHJ 1

D. Schaid, S. Thibodeau, S. McDonnell, 2006 .

Perceived Familial Risk of Cancer

M. Greene, V. Suman, C. W. Vockley, 2000 .

The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas.

D. Schaid, S. Thibodeau, S. McDonnell, 2001, American journal of human genetics.

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

E. Zackai, A. Guttmacher, M. Bamshad, 2005, American journal of human genetics.

Clinical trials: curing a critical deficiency in metabolic medicine.

J. Vockley, C. W. Vockley, 2010, Molecular genetics and metabolism.

Implications of human genome research: Impact on graduate education in genetic counseling

B. Biesecker, C. W. Vockley, E. Conover, 1993, Journal of Genetic Counseling.