Current Publications

We are dedicated to promoting academic initiatives through scientific and medical research. Thanks to our vast experience in the fields of genetics and oncology, our publications and presentations have made a significant positive impact on medical professionals and their patients.

Below is a listing of our most recent publications and presentations. Please review our Listing of All Publications for materials from previous years.

2005 Posters and Publications (PDF format)

Correlation of Immunohistochemistry and Microsatellite Instability for the Detection of DNA Mismatch Repair Deficiency in Colorectal Carcinoma Associated with Sporadic and Hereditary Nonpolyposis Colorectal Cancer
Paul Choppa, Long Luu, Jorge Garces, Steve Kargas and Moacyr DaSilva.
Genzyme Genetics, Los Angeles, CA and Westborough, MA

Unexpected interstitial deletion of 22q11.2 in a ring 22 chromosome due to a maternally inherited paracentric inversion
J. McClarren, A.E. Donnenfeld, L. Blaise, E. Zackai, R. Giadine, B. Ravnan.
Genzyme Genetics, Philadelphia, PA and Westborough, MA; Children's Hospital of Philadelphia, Hospital of the University of Pennsylvania

Compliance rates in United States for integrated prenatal screening for Down syndrome – Our experience
L.Z. Mays, S. Marenberg, S. Bhatt.
Genzyme Genetics, Orange, CA; Genzyme Genetics, Santa Fe, NM

Low risk for Down syndrome in the first trimester, high risk in the second: The problem of conflicting sequential screening results
K.A. Finney, A.E. Donnenfeld.
Genzyme Genetics

Glycogen storage disease type 1a: R83C mutation frequency in 4401 individuals from the Ashkenazi Jewish carrier screening population
N.A. Cataldo, T.L. Payeur, E.M. Rohlfs, Z. Zhou, R.A. Heim, J. Garces, E.A. Sugarman.
Genzyme Genetics, Westborough, MA

Pathway to resolve apparent sex discrepancies for Fragile X specimens
D.A. Sirko-Osadsa, N.E. Faulkner, L.Rosenblum-Vos, A.N. Lamb, S.E. Hallam.
Genzyme Genetics, Westborough, MA and Santa Fe, NM

De Novo 9p deletion identified following double-positive first trimester screen – A case report
J. Sawyer, D.P. Eller, K.G. Kupke.
Genzyme Genetics; Maternal-Fetal Specialists; Neonatology Associates, Atlanta, GA

Risk estimates for women who receive both first and second trimester Down syndrome screening
P. Benn, A.E. Donnenfeld.
University of Connecticut; Genzyme Genetics

Prospective study of 22q11 deletion analysis in fetuses with excess nuchal translucency
A.E. Donnenfeld, D. Cutillo, J. Horwitz, J. Knops.
Genzyme Genetics

Novel recurrent acquired abnormality t(3;8)(q26.2q224.2) observed in seven patients with MDS/AML
P. Segar, K.E. Richkind, B. Haas, P. Challinor, P. Mowery-Rushton, D. De Bauche, V. Suri, M. Thangavelu,.
Genzyme Genetics, Santa Fe, NM, Yonkers, NY and Orange, CA

Constitutional complex rearrangement identified in amniocentesis
R. Canchucaja, K. DeMarco, C. Yates, S.A. Berend.
Genzyme Genetics, Santa Fe, NM; Northwestern Memorial Hospital, Chicago, IL

Multiple marker screening: The correlation between testing decisions and maternal age in AMA patients seen for genetic counseling
A. Ackerman and K. Fordham.
Genzyme Genetics, Miami, FL

Activation of CD19 in Acute Myeloid Leukemia and T-Cell Lymphoma/Leukemia is Frequently Correlated with Expression of its Upstream Transcriptional Activator PAX5
Henry Dong, Patti Cohen and Po-Shing Lee.
Genzyme Genetics, New York, NY

Utility of molecular zygosity analysis to determine the genetic composition of a twin pregnancy with an apparent hydatidiform mole
N.E. Faulkner, A. Donnenfeld, L. Rosenblum-Vos and S.E. Hallam.
Genzyme Genetics, Westborough, MA; Genzyme Genetics, Philadelphia, PA and Drexel University College of Medicine, Philadelphia, PA

A simple agarose gel-based PCR for detection and sizing of trinucleotide repeats in fragile X syndrome
A. Hajianpour, S. LIang, W. Bai, S. Kou, R. Habibian, J.C. Wang.
Genzyme Genetics, Pasadena, CA

Prenatal diagnosis of chromosomal insertions
G. Sekhon, B. Haas, J. Knops, J. Weiser, S. Berend, B. Ravnan
Genzyme Genetics, Santa Fe, NM

Clinical implications of supernumerary marker chromosomes detected during prenatal diagnosis
B. Huang, S. Ungerleider, M. Thangavelu, K. Peters, S. Bhatt.
Genzyme Genetics, Orange, CA; Division of Human Genetics, University of California, Irvine; Kaiser-Permanente Medical Group of Northern California, San Jose, CA

Patient decision making regarding population screening for cystic fibrosis and fragile X syndrome in the prenatal genetic counseling setting
A. Cronister, V. Weinblatt.
Genzyme Genetics, Philadelphia, PA

A complete spectrum of chromosome abnormalities in spontaneous abortions
K.S. Reddy
Genzyme Genetics, Orange, CA

Beyond the echogenic intracardiac focus; aneuploidy risks based on the presence of additional risk factors
M. D’Addario-Hudson, D. Jadali, F. Wang, A.E. Donnenfeld.
Genzyme Genetics, Philadelphia, PA

Increased nucal translucency measurement in a male fetus with incontinentia pigmenti
K. waller, H. Frank.
Genzyme Genetics; Baylor University Medical Center, Prenatal Diagnosis Center

Activation of CD19 in Acute Myeloid Leukemia and T-Cell Lymphoma/Leukemia is Frequently Correlated with Expression of its Upstream Transcriptional Activator PAX5
Henry Dong, Patti Cohen and Po-Shing Lee.
Genzyme Genetics, New York, NY

B cell Specific Activation Protein Encoded by the PAX-5 Gene is Commonly Expressed in Merkel Cell Carcinoma and Small Cell Carcinomas
Henry Y. Dong, M.D., Ph.D.; Wei Liu, M.D.; Patti Cohen, M.D.; Christina E. Mahle, M.D.; and Weisu Zhang, M.D.
Genzyme Genetics, New York, NY

Acute myeloid leukemia with high side scatter and lack of blastic markers; flow cytometric parameters that help to differentiate from benign conditions and acute promyelocytic leukemia
W. Gorczyca, J. Weisberger, C.D. Wu, H.Y. Dong, and Z. Liu
Genzyme Genetics Hematopathology Laboratory, New York, NY, and Bio-Reference Laboratory, Elmwood, NJ

Subset of mature (peripheral) CD8+ T-cell lymphoproliferations co-express C117
W. Gorczyca, P-S Lee, H.Y. Dong and C.D. Wu.
Genzyme Genetics, Hematopathology Laboratory, New York, NY

GLUT-1 is preferentially expressed in endometrial hyperplasia and adenocarcinoma
Amanda Ashton-Sager, M.D.; Alaa M. Afify, M.D.; Augusto F. G. Paulino, M.D.
Department of Pathology, University of California, Davis CA; Genzyme Genetics, New York, NY

Prognostic marker for endometrial adenocarcinoma: expression of stromal hyaluronan in the presence of decreasing levels of CD44v6 reflects tumor progression
Alaa M. Afify, M.D.; Sarah Craig; Augusto F. G. Paulino, M.D.; Robert Stern, M.D.
Department of Pathology, University of California, Davis, CA; Genzyme Genetics, New York, NY; University of California, San Francisco, CA

The temporal variation in the distribution of hyaluronic acid, CD44s and CD44v6 in human endometrium across the menstrual cycle
Alaa M. Affify, M.D.; Sarah Craig; Augusto F. G. Paulino, M.D.; Department of Pathology, University of Calirfornia, Davis, CA; Genzyme Genetics, New York, NY