E. Sugarman

发表

The I148T CFTR allele occurs on multiple haplotypes: A complex allele is associated with cystic fibrosis

M. Knowles, R. Heim, L. Silverman, 2002, Genetics in Medicine.

At the dawn of personalized reproductive medicine: opportunities and challenges with incorporating multigene panel testing into fertility care

B. Levy, D. Parfitt, Lei Tan, 2017, Journal of Assisted Reproduction and Genetics.

Cystic fibrosis carrier testing in an ethnically diverse US population.

R. Heim, N. Nagan, T. Scholl, 2011, Clinical chemistry.

Analysis of 3208 cystic fibrosis prenatal diagnoses: Impact of carrier screening guidelines on distribution of indications for CFTR mutation and IVS-8 poly(T) analyses

E. Rohlfs, E. Sugarman, V. Weinblatt, 2004, Genetics in Medicine.

CFTR mutation distribution among U.S. Hispanic and African American individuals: Evaluation in cystic fibrosis patient and carrier screening populations

L. Silverman, E. Rohlfs, E. Sugarman, 2004, Genetics in Medicine.

CF patients and in the general population to assess the struc- ture of the panel itself and to evaluate problems in the imple- mentation of carrier screening.

S. Loader, M. Knowles, R. Heim, 2002 .

Cystic fibrosis and chromosome abnormalities associated with echogenic fetal bowel.

M. Norton, E. Sugarman, B. Allitto, 1999, Obstetrics and gynecology.

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

N. Nagan, T. Scholl, V. Akmaev, 2011, European Journal of Human Genetics.

Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy.

G. Penchaszadeh, L. Michaud, S. Chatkupt, 1994, American journal of human genetics.

Early Experiences of Prenatal Genetic Counselors with Spinal Muscular Atrophy Carrier Testing

Katie Ziegler, Erica M. Sanborn, E. Sugarman, 2010 .

Carrier testing for spinal muscular atrophy

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

Cystic Fibrosis Prenatal Screening in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors

E. Kloza, J. Redman, B. Pettersen, 2005, Journal of Genetic Counseling.

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.

Technical standards and guidelines for spinal muscular atrophy testing

T. Prior, C. Braastad, S. Batish, 2011, Genetics in Medicine.

Differences in SMN1 allele frequencies among ethnic groups within North America

T. Scholl, V. Akmaev, B. Hendrickson, 2009, Journal of Medical Genetics.

Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel

R. Heim, E. Sugarman, B. Allitto, 2001, Genetics in medicine : official journal of the American College of Medical Genetics.

Initial assessment of the benefits of implementing pharmacogenetics into the medical management of patients in a long-term care facility

J. Saldivar, D. Taylor, E. Sugarman, 2016, Pharmacogenomics and personalized medicine.

Contribution of Pharmacogenetic Testing to Modeled Medication Change Recommendations in a Long-Term Care Population with Polypharmacy

D. Taylor, E. Sugarman, J. Centeno, 2016, Drugs & Aging.

High allelic heterogeneity between Afro-Brazilians and Euro-Brazilians impacts cystic fibrosis genetic testing.

F. Faucz, J. Phillips, R. Heim, 2003, Genetic testing.

Genetic and physical analysis of double-strand break repair and recombination in Saccharomyces cerevisiae.

J. Haber, N Rudin, J E Haber, 1989, Genetics.

Carrier testing for seven diseases common in the Ashkenazi Jewish population: implications for counseling and testing

E. Sugarman, B. Allitto, 2001 .