Listing of All 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 the publications and presentations members of our medical staff have authored between 2000-2005.

2008 Posters and Publications (PDF format)

Prevalence and instability of Fragile X alleles: Implications for Offering Fragile X Prenatal Diagnosis.
Cronister, A; Teicher, J; Rohlfs, EM; Donnenfeld, AE; Hallam S, Obstetrics and Gynecology 2008;111:596-601.

Consensus Characterization of 16 FMR1 Reference Materials: A Consortium Study
Jean Amos Eilson, Victoria M. Pratt, Amit Phansalkar, Kasinathan Muralidharan, W. Edeard Highsmith Jr., Jeanne C Beck, Scott Bridgeman, Ebony M. Courtney, Lidia Epp, Andrea Ferreira-Gonzalez, Nick L. Hjelm, Leonard M. Holtegaard, Mohamed A. Jama, John P. Jakupciak, Monique A. Johnson, Paul Labrousse, Elaine Lyon, Thomas W. Prior, C. Sue Richards, Kristy L. Richie, Benjamin B. Roa, Elizabeth M. Rohlfs, Tina Sellers, Stephanie L. Sherman, Karen A. Siegrist, Lawrence M. Silverman, Loanna Wiszniewska, Lisa V. Kalman and the Fragile Experts Working Group of the Association for Molecular Pathology Clinical Practice Committee, Journal of Molecular Diagnostics, Vol 10, No 1, January 2008

Multiple Rare Nonsynonymous Variants in the Adenomatous Polyposis Coli Gene Predispose to Colorectal Adenomas
Azzopardi, Duncan1; Dallosoo, Anothony R1; Eliason, Kristilyn3; Hendrickson, Brant C4; Jones, Natalie1; Rawstorne, Edward1; Colley1; James, Moskvina2; Valentina; Frye, Cynthia3; Sampson, Julian R1; Wenstrup, Richard3; Scholl, Thomas3,4; and Cheadle, Jeremy P.1

1Institute of Medical Genetics and 2Biostatistics and Bioinformatics Unit, School of Medicine, Cardiff University, Heath Park, Cardiff, United Kingdom; 3Myriad Genetic Laboratories, Inc., Salt Lake City, Utah; and 4Genzyme Genetics, Westborough, MA, Cancer Res 2008; 68: (2). January 15, 2008 pp358-363

Two cases assessed for myloid disorders had an unexpected twist
Reddy, Kavita, Cancer Genetics and Cytogenetics 181 (2008) 138-140 (Letter to the editor)

2005 Posters and Publications (PDF format)

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

2004 Posters and Publications (PDF format)

Causes of discrepancy between prenatal chromosome results and phenotypic sex
Kempf T., Donnenfeld A.E., Puck S.

A retrospective study of 27,123 products of conception submitted for cytogenetic analysis
Judith Knops, Ph.D., Jacque Hansen, Alicia Navoy, Alan Donnenfeld, M.D.

The nature of families and individuals who have adopted and/or are waiting to adopt a child with Down syndrome
H. Lindh and A.E. Donnenfeld, Genzyme Genetics; R. Steele and J. Page-Steiner, Down Syndrome Association of Greater Cincinnati

Perinatologist experience with support people during invasive prenatal diagnostic procedures
L. Blaise and A.E. Donnenfeld

Phenotypic effects and pregnancy outcome of an unbalanced familial 5:21 chromosome translocation
C McKenna, LS Heckman, R Schmidt , M Moretti, P Koduru3, L Mehta. Genzyme Genetics, St. Vincents Medical Center, Staten Island, NY, North Shore University Hospital, Manhasset, NY

Mosaic trisomy 16: Comparison of prognostic information derived from Internet sources versus scientific publications
M. McDermett and A.E. Donnenfeld

CFTR Mutation Distribution among U.S.-Hispanic & African American Individuals: Evaluation in Known Affected and Carrier Screening Populations
E.A. Sugarman, E.M. Rohlfs, B.A. Allitto

Genetic counseling issues when there are abnormalities on both X chromosomes
E. Tejero and A.E. Donnenfeld

Prenatal Diagnosis of an FGFR2 Mutation: A Less Severe Presentation of Pfeiffer Type Cramosymostosis
J. Sawyer, T. Feng and K. Kupke

Deletion (1)(q42) and minimal phenotype: a function of limited monosomy or of age of evaluation?
M. Thangavelu and M. Bocian

Phenotype associated with pure partial duplication of the long arm of chromosome 4 (q31 to q35).
M. Thangavelu and M. Bocian

Characterization of Prenatally Diagnosed Marker Chromosomes; an analysis of 185 cases from 491,596 amniocentesis samples.
F. Wallace1, A. Donnenfeld1, S. Berend2, M. Shaham3

Monocentric, inverted duplication of 8p due to a maternal paracentric inversion: phenotype and proposal of a mechanism
S.R. Forrester, J.B. Ravnan, M.C. Schneider,
Southern Illinois University School of Medicine, Springfield, IL and Genzyme Genetics, Santa, Fe, NM

Taqman assay sensitivity to Maternal Cell Contamination
Helen Demers, B.A., CLSp (MB)¹, , Robert Wood, B.A.¹, Stephanie Hallam, Ph.D.¹

A case of DER(7)INS(7;8)(Q21.2; Q24.1Q22) detected in an infant with facial asymmetry and cleft palate
Rosemarie Schmidt, M.S.¹, Agnieszka Gorski, B.S.¹, Veena Suri, Ph.D.¹, J. Britt Ravnan. Ph.D.², Eve Beller,M.S.³, Martha Weinstein, Ph.D.¹, ¹Genzyme Genetics, Yonkers, NY, ²Genzyme Genetics, Santa Fe, NM, ³Kings County Hospital, NY

A case of trisomy 8 and DIC(9;12)(P13;P13) detected in the bone marrow of a child.
Rosemarie Schmidt, M.S.¹, Veena Suri, Ph.D.¹, Gabrielle Jervis, M.S.², Martha Weinstein, Ph.D.¹. ¹Genzyme Genetics, Yonkers, NY, ² Genzyme Genetics, Tampa, FL

Multiple copies of chimeric PML/RARA gene in a case of acute promyelocytic leukemia.
Joseph Tsai, Bing Huang, Winston Tom, Kathleen Richkind, Maya Thangavelu

A novel jumping translocation in a case of acute myeloid leukemia
J Tsai, M. Thangavelu, W. Tom, B. Huang, Genzyme Genetics, Orange, CA

prenatal diagnosis of a deletion in 17P13
Karen Miller¹; Herb Brar²; Shelley Mueller²; Naigeng Qin¹; Genzyme Genetics, Orange, CA¹; Prenatal Diagnostic and Perinatal Center, Riverside, CA²

Maternal cell contamination in cord blood chromosome analysis
Winston Tom, Maya Thangavelu, Bing Huang, Genzyme Genetics, Orange, CA

Amplification of MLL and MYC genes in acute myelogenous leukemia
L. Dean, M. Ornelas, C.S. Berger, C.F. Stephenson, T.C. Brown, IMAPTH, Phoenix, AZ

A five-way translocation in acute promyelocytic leukemia
K. Koniecko, CLSp(CG), S.Y. Dong, M.D., CLSp(CG), S. Karamanov, M.D., CLSp(CG), CLSp(MB), C Berger, CLSup, DC Stegeman, M.S., M.B.A., CL Dir., C.F. Stephenson, Ph.D., FACMG
IMPATH, Phoenix, AZ

Development of a secondary disease process in a patient with acute promyelocytic leukemia (AML-M3 subtype)
L. Ross, C.S. Berger, C.F. Stephenson, Ph.D.,
IMPATH, Phoenix, AZ

A rare translocation involving chromosomes 9 and 22 in a patient with a myeloproliferative disorder / myelodysplasia
P. Paulraj, Ph.D., S.Y. Dong, M.D., C. Berger and C.F. Stephenson, Ph.D.

The use of FISH in evaluating cytogenetically normal plasma cell dyscrasia cases
R. Bajaj, Ph.D., L.K. Guidot, D. Stegeman, C. Berger, C.F. Stephenson, Ph.D.

Tissue specific mosaicism for a derivative chromosome 18 with partial trisomy 17: Implications for prenatal diagnosis
Carla Renfrow1, Madelaine Reyes1, Beth Matthews2, Kristin M. May2, Laurel Estabrooks1
1Genzyme Genetics, Tampa, FL; 2Department of Human Genetics, Emory University School of Medicine, Atlanta, GA

B-Cell Malignancies Lacking Common Pan-B Cell Antigens Consistently Express PAX-5
Dong, H., Liu, Z. , Browne, P., Gangi, M.
United States and Canadian Academy of Pathology 93rd Annual Meeting

Correlation of PAX-5 Expression with Other Immunophenotypic Markers in Plasma Cell Neoplasia
Gorczyca, W., Liu, Z. , Dong, H., Weisberger, J.

Immunophenotyping of Peripheral (Mature/Post-Thymic) T-Cell Lymphoproliferative Disorders by Flow Cytometry. Analysis of 213 Cases
Gorczyca, W., Liu, Z., Dong, H., Weisberger, J.

Bone Marrow Involvement by Peripheral T-Cell Lymphoma/Leukemia
Liu, Z., Dong, H., Gorczyca, W.

Comparison of In Situ Hybridization (ISH) vs. Hybrid Capture II for Evaluation of High Risk Human Papillomavirus Detection in Liquid Based Pap
Horten, B., Owens, M., Lozovskaya, I., Holladay, E., Da Silva, M.
American Society for Colposcopy and Cervical Pathology

Epigenetic Regulations: Biphasic Nuclei with Differential Chromatin Structure Imply Operational Functions of Genetics
Jyoti Chaudhuri (Phoenix)

Establishing an expanded fluorescence in situe hybridization (FISH) probe panel for preimplantation genetic diagnosis (PGD)
Rezvan Habibian¹, Judith Knops², Atieh Hajianpour¹, John Joyce¹, Jin-Chen Wang^1
1Genzyme Genetics, Pasadena, CA, ²Genzyme Genetics, Santa Fe, NM

Genetic screening of oocyte donors
Z. Powis, K.P. Peters, S. Bhatt

Primary Meningeal Sarcomastsis: A Case Report with Cytogenetic Findings and a Review of the Literature
C.R. Pierson, K. Ligon, L. Guomnerova, K., Ritchkind, U. DeGirolami

FISH validation of preimplantation genetic diagnosis (PGD)
S. A. Berend1, D. Crenshaw1, S. Pritchard2, M. Sapeta1, K. Ivani3, J. Russell2, F. Bischoff4, J. Wang5, A. Lamb1, B. Ravnan1.
1Genzyme Genetics, Santa Fe, NM, 2Delaware Institute for Reproductive Medicine, Newark, DE, 3Reproductive Science Center, San Ramon, CA; 4) Baylor College of Medicine, Houston, TX; 5) Genzyme Genetics, Pasadena, CA

Sonographic findings in fetuses with de novo and inherited balanced chromosome rearrangements; a series of 1,955 cases
Barbara Goldin ¹, Meira Shaham ², Alan E. Donnenfeld ¹
1) Genzyme Genetics, Philadelphia, PA; 2) Genzyme Genetics, Yonkers, NY

Midtrimester recurrence risk of aneuploidy in women with a previous history of Down syndrome
Tina Sellers, Alan E. Donnenfeld, Kendall Anabell

Mosaicism in CVS revisited
M. Thangavelu, B. Huang

Angelman syndrome and Beckwith-Wiedermann syndrome methylation testing in a prospective series of 84 IVF pregnancies.
L. Ross¹, L. Black², J. Johnson³, L. Beischel³, S. Bhatt¹, J. Goldberg². 1) Genzyme Genetics, Orange, CA; 2) California Pacific Medical Center, San Francisco, CA; 3) Shodair Children's Hospital Genetics Laboratory, Helena, MT.

A rare case of possible 3;1 meiotic segregation and subsequent interchange trisomy 18 in a fetus whose mother carries a t(12;18) (p13.1;q21.1) translocation
Christin M. Coffeen¹, Sucheta Bhatt¹, Maya Thangavelu¹, David B. Rogers¹, Lawrence D. Platt^{2, 3}. 1) Genzyme Genetics, Orange, CA; 2) David Geffen School of Medicine at UCLA, Los Angeles, CA; 3) Center for Fetal Medicine and Women's Ultrasound, Los Angeles

Canavan pregnancy following use of a gamete donor. A case report
David B. Rogers¹, M. Kohan¹, S. Bhatt¹, H. Danzer², L.D. Platt³ 1) Genzyme Genetics, Orange, California; 2) Southern California Reproductive Center, Beverly Hills 3) Center for Fetal Medicine and Women's Ultrasound, David Geffen School of Medicine at UCLA

Trisomy 17 mosaicism cases diagnosed prenatally.
G. Sekhon, B. Haas, M. Fernandez, K. Thornell, K. Collen. Genzyme Genetics, Santa Fe, NM.

Dandy Walker malformation, aniridia, and cataracts in a 19-week fetus with partial trisomy of chromsome 15.  The importance of ophthalmologic pathology in cases of fetal and neonatal demise
C. S. Rao1, M. A. Coté-Primac2, B. Huang1,3, M. Bocian1
1 Division of Human Genetics, Dept. of Pediatrics, Univ. of California Irvine Medical Ctr., Orange, CA; 2 Dept. of Pathology, Univ. of California Irvine Medical Ctr., 3 Genzyme Genetics, Orange, CA

Mosaic whole-arm duplication of the long arm of chromosome 1 identified in an amniocentesis and confirmed in different tissue samples at birth
P. L. Sinanaj1, A. E. Deupree1, E. Williamson1, E. Varga2, S. A. Berend1

Preimplantation genetic diagnosis (PGD) for chromosome translocations: Strategies for probe selection.
 J-C Wang, A. Hajianpour, R. Habibian. Genzyme Genetics, Pasadena, CA.

Searching for patients with the 22q11.2 duplication syndrome: Confirmation that some patients have phenotypic overlap with DiGeorge/Velocardiofacial Syndrome
A. Lamb1, R. Kumar1,3, J.E. Pellegrino2, D. Chavez2, T. Morris1, P. Challinor1, J.B. Ravnan1
1) Cytogenetics, Genzyme Genetics, Santa Fe, NM.; 2) Inst Genetic Medicine, St Peter's Med Ctr, New Brunswick, NJ; 3) Univ Connecticut, Storrs, CT

Tetrasomy Y syndrome in a child with two idic(Y)(q11.2)
J.T. Mascarello and V. Kimonis

Pregnancy outcome following prenatal diagnosis of 46,XX,dup(9)(q22.3q32): first case report
Michelle Do¹, Maya Thangavelu¹, Henry Lin², Kenneth Chan³, David B. Rogers¹. ¹Genzyme Genetics, Orange, California; ²Harbor-UCLA Medical Center, Torrance, California; ³Magella Medical Group, Torrance, California.

Prenatal diagnosis of supernumerary marker chromosomes derived from chromosome 6.
B. Huang, P. Pearle, J. Philipson, P. Cotter

Bone marrow engraftment chimerism monitoring by short tandem repeat (STR) analysis
L.M. Hire, P. Labrousse, J. Garces, B.A. Allitto. Genzyme Genetics, Westborough, MA.

Complex mosaic trisomy 7 in lymphocytes of a girl with primary microcephaly
E. McPherson1 and J. Mascarello2
1) Medical Genetics, Marshfield Clinic, Marshfield, WI 2) Genzyme Genetics, Santa Fe, NM

Prenatal Cytogenetic Diagnosis on 47,730 Amniotic Fluid Specimens
R. Habibian1, S. Nawaz2, A. Hajianpour1
1) Genzyme Genetics, Pasadena, CA; 2) USC School of Pharmecy, LA, CA.

Evaluation of Five Control Genes in the Normalization of Real-Time Quantitative PCR (QT-PCR) Data for Residual Disease Monitoring in BCR-ABL Positive Patients
P. Choppa, M. Thackston, L. Luu, M. Owens, J. Garces

Analysis of Various reference genes for Q-BCR/ABL testing
M. Thackston, N. Fualkner, D.A. Sirko-Osadsa, J. Garces

The benefit of a "Counselor of the Day" to patients, physicians and other genetic counseling colleagues
Joyce Basile and Alan E. Donnenfeld

Chromatin features imply segregation of parental genomes and epigenetic involvement
Jyoti P. Chaudhuri ^1-3, Sultan Karamanov³, Mathew Battaglia³, Joachim-U. Walther¹
1 Tumour Cytogenetic Unit, Kinderklinik, LMU, 80336 Munich, FRG 2 Genedia GmbH, 80337 Munich, FRG 3 Genzyme Genetics, Phoenix, AZ 85034, USA.

Improved sensitivity and staining intensity of several immunohistochemical markers by using surface acoustic wave (SAW) technology
Rosalba Tamayo, Daisy Joseph and Steve Kargas,M.D.
Annual Syposium/Convention of the National Society for Histotechnology, Toronto, Ontario Canada

A novel four-color direct staining multi-site validation of Zap 70 using a variety of specimen types and patient diagnosis in a clinical laboratory setting
K. Baggiani, X. Li, S. Fabello, L. Hertzberg, S. Tugulea, T. Oldaker
Genzyme Genetics/Impath, Losangeles, CA

Case Study: Four color flow cytometry identifies mast cell presence in bone marrow speciment submitted for suspected systemic mastocytosis
Roderick Redor, Christopher Felten, Karina Baggiani, Syndette Fabello, Lawrence Hertzberg, Teri Oldaker
Genzyme Genetics/Impath, Los Angeles, CA

Case Study: Four color flow cytometry identifies B-cell chronic lymphocytic leukemia case with two distinct clones of ZAP-70 postive and negative neoplastic b-lymphoid cells
S.J. Fabello, K. Baggiani, L. Hertzberg, T. Oldaker
Genzyme Genetics/Impath, Los Angeles, CA

Flow Cytometry in the diagnosis of mediastinal tumors with emphasis on differentiating thymocytes from precursor T-lymphoblastic lymphoma/leukemia
W. Gorczyca, S. Tugulea, Z. Liu, X. Li, J.Y. Wong, J. Weisberger
Leuk Lymphoma 45(3): 529-38

Immunohistochemical analysis of advanced human breast carcinomas reveals downregulation of protein kinase C alpha
C. Kerfoot, W. Huang, S.A. Rotenberg
J Histochem Cytochem 52(3): 419-22

HER2 Amplification Ratios by Fluorescence In Situ Hybridization and Correlation with Immunohistochemistry in a Cohort of 6556 Breast Cancer Tissues
M.A. Owens, B.C. Horten, M.M. Da Silva
Clinical Breast Cancer, April 2004

Cytochemical diagnosis of Gaugher’s disease by iron stain
J Weisberger, F Emmons, W Gorczyca
Br J Haematol 124(6): 696

Trisomy Recurrence: A reconsideration based on North American Data
Dorothy Warburton, Louis Dallaire, Maya Thangavelu, Lori Ross, Bruce Levin and Jenine Kline
Am J Hum Genetics 75:376, 2004

Isochromosome 22 in Trisomy 22 Mosaic with Five Cell Lines
C. Guze, N. Qin, J. Kelly, D. Baker, X. Yang, R. Hassan
Am J Med Genet 2004; 124A:79-84

Constitutional Trisomy 8 Mosaicism due to Meiosis II Nondisjuction in a Phenotypically Normal Woman with Hematological Abnormalities
Said Baidas, T-J Chen, Valentin Kolev, Lee-Jun Wong, Joel Imholte, Naigeng Qin and Jeanne Meck
Am J Med Genet 2004; 124A:383-387

Three Consecutive Triploidy Pregnancies in a Woman: Genetic Predisposition?
B. Huang, L. Prensky, M. Thangavelu, D. Main, S. Wang
European Journal of Human Genetics

Cystic Firbrosis (CF) Couple Carrier Screening: 2004 Revision of ACMG’s Mutation Panel
Michael S. Watson, Ph.D., Garry R. Cutting, M.D., Robert J. Desnick, M.D., Ph.D., Deborah A. Driscoll, M.D., Katherine Klinger, Ph.D., Michael Mennuti, M.D., Glenn E. Palomaki, Bradley W. Popovich, Ph.D., Victoria M. Pratt, Ph.D., Elizabeth Rhlfs, Ph.D., Charles M. Storm, M.D., Ph.D., C. Sue Richards, Ph.D., David R. Witt, M.D., Wayne W. Grody, M.D., Ph.D.
Genetics in Medicine, Vol5(5) 2004

Atlas of Differential Diagnosis in Neoplastic Hematopathology
Wojciech Gorczyca and Foxwell Emmons
Taylor & Francis Group (December 20, 2004)

Myeloid antigen positive acute lymphoblastic leukemia with the Philadelphia translocation and a jumping translocation of 1q in a child
Montgomery K.D., Winter S.S., Frost J.D., Hardekopf D., Holt K., Graham M.L., Foucar K.
Leukemia. 2004 Sep;18(9): 1548-50.

Prenatal Diagnosis of Trisomy 3 Mosaicism
Ann-Leslie Zaslav, Guy Pierno, Jessica Davis, Arthur Fougner, Jessy Jacob, Rehana Kazi, Donna Blumenthal, Sandra Sturim, Meira Shaham, Joyce Fox
Prenatal Diagnosis, Vol. 24, Issue 9, PP 693-696

Translocation (3;12)(q25;p11.2): A novel recurring cytogenetic abnormality in acute myeloid leukemia
Roopal Shah, Brenda Rowland, Kathleen Richkind, Patricia Mowery-Rushton, Synthia Roherty, Rod Morgan, Martin Schlam
2004: Cancer Genet Cytogenet, in press

Translocation T (X;20)(q11.2;Q13): A new nonrandom abnormality found in four cases with myeloid disorders.
K.S. Reddy, K. Richkind, M.Ross, R. Sierra, 2004:
Cancer Genet Cytogenet, in press

Emphasis on safety, not just cost-effectiveness
T. Gardner, A.E. Donnenfeld
Letter to the editor, American Journal of Obstetrics and Gynecology

CFTR Mutation Distribution among U.S. Hispanic & African American Individuals: Evaluation in CF Patient and Carrier Screening Populations
Elaine A. Sugarman, M.S., Elizabeth M. Rohlfs, Ph.D., Lawrence M. Silverman, Ph.D., Bernice A. Allitto, Ph.D.
Genetics in Medicine

DNA parentage testing
E. Panke, A.E. Donnenfeld
UpToDate (online journal)

Analysis of 3,208 CF Prenatal Diagnoses: Impact of carrier screening guidelines on distribution of indications for CFTR mutation and IVS-8 poly(T) analyses
Elizabeth M. Rohlfs, Vivian J. Weinblatt, Karen J. Treat, Elaine A. Sugarman
Genetics in Medicine (Sept/Oct issue)

Acceptance of amniocentesis in Different Radical Ethnic Groups
Jennifer Saucier
Journal of Genetic Counseling

Cancer Connections: CML
Kristi Lewandowski
The Journal of the Association of Genetic Technoologists Vol. 30, No. 4, 4^th Qtr. 2004

8. Autosomal Aneuploidy; 19. Geneomic Imprinting and Uniparental Disomy
Wang, Jin
The Principles of Clinical Cytogenetics, Second Edition (2 chapters)

Tetrasomy 21 Transient Leukemia in a Phenotypically Normal Infant with Trisomy 21 Mosaicism of the Hematopoetic Tissue
C. Sandoval, S. Pine, S. Sastry, J. Stewart, D. Kronn and S. Jayabose
Pediatric Blood and Cancer

Partial duplication 2p as the sole abnormality in two cases with anencephaly
Thangavelu, M., Frolich, G, Rogers, D.
American Journal of Medical Genetics Vol 124A, Issue 2; 15 January, 2004 pp 170-172

A new human natural killer leukemia cell line, IMC-1. A complex chromosomal rearrangement defined by spectral karyotyping: functional and cytogenetic characterization.
Chen IM, Whalen M, Bankhurst A, Sever CE, Doshi R, Hardekopf D, Montgomery K, Willman CL.
Leuk Res. 2004 Mar;28(3):275-84.

Chromosome Walking by Inverse PCR
J A Garces, SA Williams, RH Gavin
PCR Technology: Current Innovations, Second Edition

What to do when your patient wants prenatal paternity testing
Donnenfeld, AE and Panke, ES
Contemporary Ob/Gyn 49:44-51, 2004.

Planning a Pregnancy? Take the Steps Necessary to Improve the Chances of Having a Healthy Child.
Donnenfeld, AE
Exceptional Parent pp. 48-54, February, 2004.

Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies
Charles P. Venditti, Piper Hunt, Alan Donnenfeld, Elaine Zackai, Nancy B. Spinner
American Journal of Medical Genetics Part A; Volume 124A, Issue 3, 2004. Pages 274-279

Cytogenetics and molecular cytogenetics
Donnenfeld AE
Prenatal Diagnosis

Folate-sensitive fragile site FRA10A is due to an expansion of a CCG-repeat in a novel gene FRA10AC, encoding a nuclear protein.
T Sarifidou, C Kahl, I Martinez-Garay, M Mangelsdorf, S Gesk, E Baker, M Kokkinaki, P Talley, EL Maltby, L French, L Harder, B Hinzmann, C Nobile, K Richkind, Eur Coll Consortium for the study of ADLTE, P Deloukas, GR Sutherland, K Kutsche, NK Moschonas, R Siebert, J Gecz
Accepted Genomics 2004

Distinct chromosomal rearrangements in subungual (Dupuytren’s) exostosis and bizarre parosteal osteochondromatous proliferation (Nora’s lesion).
Zambrano, E Nose V, Gebhardt M, Hresko M, Kleinman P, Richkind K,Perez-Atayde AR, Kozakewich HPW.
Amer J Surg Pathol 2004

Chromosome Abnormalities identified in 347 Spontaneous Abortions collected in Japan
Masaji Nagaishi 1), Tatsuo Yamamoto1), Kazuso Iinuma2), Katsunori Shimomura3), Sue Ann Berend4), and Judith Knops4)
Journal of Obstetrics and Gynaecology Research

Mitotic and Meiotic Instability of a Telomere Association Involving the Y Chromosome
Bing Huang, Christa Lese Martin, Constance J Sandlin, Shengbiao Wang, David H Ledbetter
American Journal of Medical Genetics

Subtelomere population study
Ravnan B, Lamb A
Am J Med Gen

Clonal chromosome abnormalities in a plexiform cellular schwannoma
Joste NE, Racz MI, Montgomery KD, Haines S, Pitcher JD
Cancer Genetics and Cytogenetics

Current Protocols in Human Genetics;
Heim R, Rohlfs E, Napolitano N
Simulataneous Detection of Multiple Point Mutations Using Allele-Specific Oligonucleotides (Unit 9.4)

Prenatal diagnosis of Fanconi Anemia (Group C) sugsequent to abnormal sonographic findings
Prenatal Diagnosis
Merrill A (1), Rosenblum-Vos(1), L, Drisoll, DA (2), Daley K (3), Treat K (1)
1--Genzyme Genetics, Westborough, MA; 2--Dept. of Obstetrics and Gynecology, Univ. of Pennsylvania Med. Ctr., Phil, PA; 3--Div. of Medical Genetics, Beth Israel Medical Ctr, NYC, NY

t(3;12)(q25;p11.2): a recurring cytogenetic abnormality in AML
B Rowland, R Shah, S Roherty, K Richkind, P Mowery-Rushton
Cancer Genetics & Cytogenetics

Deletion of chromosome 10 with breakpoint in q26.1: a postmortem study
L Bornikova, CL Clericuzio, P McFeeley, KD Montgomery, ML Wills
AJMG

Prenatal diagnosis of aneuploidy and deletion 22q11.2 in fetuses with ultrasound detection of cardiac defects
J Moore, J Horwitz
AJOG

2003 Posters and Publications (PDF format)

Phenotypic effects and pregnancy outcome of an unbalanced familial 5:21 chromosome translocation
C McKenna, LS Heckman, R Schmidt , M Moretti, P Koduru3, L Mehta. Genzyme Genetics, St. Vincents Medical Center, Staten Island, NY, North Shore University Hospital, Manhasset, NY

Chromosome abnormalities among fetuses with pleural effusions detected on prenatal ultrasound examination: Comparison of aneuploidy rates between isolated pleural effusions and those with other congenital anomalies.
K Waller, MS, T Custer, AE Donnelfeld

Refined risk of UPD associated with prenatally-detected inv dup(15) Chromosomes.
B Huang and AN Lamb

Incidence of variant FISH results in pediatric ALL.
M Thangavelu, PA Mowery-Rushton, JL Murata-Collins, KE Richkind. Genzyme Genetics, Orange, CA and Santa Fe, NM

Autism: Incidence of Cytogenetic abnormality and fragile-X syndrome
S Reddy and the diagnostic teams

Meiotic 3:1 segregation outcome in POCs and livebirths
M Lemieux and KS Reddy KS

Terminal Deletions of 4q in Phenotypically Normal Individuals
M Lemieux and KS Reddy KS

A Case of 45, X 46, X, r(X) Detected Prenatally

A Case of 46, XY, r(5)(p15.3q35) 45, XY,-5 Detected In A Child With Mental Retardation

A Rare Case of ins(1)(p22.3q25q32.1) Reported In a Patient With Unbalanced Offspring

A Summary of Subtelomere FISH Analysis on Over 2000 Specimens

Amniotic Fluid Cytogenetic Analysis Turn-Around Time-Comparison of Aneuploid And Diploid Samples

Chromosome Analysis May Be Indicated in Couples with Two Abnormal Pregnancy Outcomes

Mucolopidosis Type IV Clinical Testing Experience Confirms Utility of Screening the Ashkenazi Jewish Population

Partially Cryptic Translocation Involving the Short Arm of an Acrocentric Chromosome

Pha interleukin-2 Stimulation Identified Three New Recurrent Chromosomal Translocations in Non-Hodgkins Lymphoma

Prenatal Detection of AN inv(15)(p11.2q13)

Screening Amniotic Fluid Samples With Indications of Cardiac Defects for 22q11.2 Deletions

Summary of Possible Familial Variants Found in Over 2000 Subtelomere FISH Cases

The CFTR polyT 6T allele is associated with CAVD

Miller, GA
Genetics and Medicine: Brief Overview of the Future
CAPG update, August, 2003 p. 9-11

Book Review: Genetic Dilemmas: Reproductive Technology, Parental Choices, and Gheldren’s Futures
Swaminathan, L
Journal of Genetic Counseling 12(3): 275-277, June 2003

Obligate Short-Arm Exchange in De Novo Robertsonian Translocation Formation Influences Placement of
rossovers in Chromosome 21 Nondisjunction
Berend, SA, Page, SL, Atkinson, W, McCaskil, C, Lamb, NE, Sherman, SL, Shaffer, LG
Am J Hum Genet. 72: 488-495, Feb. 2003

A Survey of Clinical Supervision in Genetic Counseling
Lindh, H, McCarthy Veach, P, Cikanek, K, LeRoy, BS
Journal of Genetic Counseling, Vol 12, No 1 Feb, 2003

Mosaicism in a Patient With Down Syndrome Reveals Post-Fertilization Formation of a Robertsonian
Translocation and Isochromosome
Bandyopadhyay, R, McCaskill, C, Knox-Du Bois, C, Zhou, Y, Berend, SA, Bijlsma, E, Shaffer, LG
Am J Med Genet, 2003 Jan 15: 116A:159-163

The identification of clinically relevant markers and therapeutic targets
Nicolette, CA, Miller, GA
Drug Discovery Today Vol. 8, No. 1: 31-38, January, 2003

Meckel Syndrome
Pereira, L, Donnenfeld, AE
The NORD Guide to Rare Disorders. Lippincott, Williams & Wilkins. Phildelphia, PA; 2003

Prenatal Management of Tetrasomy 5p.
Reddy, K, Huang, B
Prenatal Diagnosis, Vol. 23: 82-85

Trisomy 5p in a Prenatal Case with Ultrasound Abnormalities
Reddy, K, Thangavelu, M
Prenatal Diagnosis, Vol. 23: p81-82

The Role of the Genetics Counselor
Sugarman, E
The Health Memo, Winter, 2003, Vol. 3, Issue 1

General practice medicine: the key to success in diagnostic test development
Miller, G
Expert Rev. Mol. Diagnostics 3(4), 2003

Analysis Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations in Patients with
Congenital Absence of the Uterus and Vagina
Timmreck L, Gray M, Handelin B, Allitto B, Rohlfs E, Davis A, Gidwani G, Reindollar R
American Journal of Medical Genetics 120A: 72-76, 2003

Cytogenetic and Molecular Cytogenetics in prenatal diagnosis. (Book Chapter)
Donnenfeld, A, Lamb, A
Clinics in Laboratory Medicine 23, 2003 457-480

"Residual risk for cytogenetic abnormalities after prenatal diagnosis by interphase fluorescence hybridization"
Homer, J, Bhatt, S, Huang, B, Thangavelu, M
Prenatal Diagnosis 2003; 23: 566-571

Fusion of AML1/Runx1 to copine VIII, a novel member of the copine family, in an aggressive acute
myelogenous leukemia with the t(12;21) translocation.
H Ramsey, DE Zhang, K Richkind, A Burcoglu-O'Ral, R Hromas
Leukemia 2003; 17(8): 1665-6

2002 Posters and Publications (PDF format)

Comparison of the efficacy of direct chromosome preparations to interphase FISH for rapid results in CVS

Familial Dysautonomia Mutation Frequency – Clinical Testing of Greater than 4500 Specimens Confirms High Frequency in Ashkenazi Jewish

Novel Laboratory Softsware for the Automation of Flow Cytometry Analysis and Remote Diagnostic Reporting

Prenatal Diagnosis of Mosaic Trisomy 20 in Fetus with Diaphragmatic Hernia

I148T Doesn't Seem to Cause Severe CF in the Absence of 3199del6
Rohlfs E, Zhou Z, Sugarman E, Heim R, Pace R, Knowles M, Silverman L,. Allitto B
The Northern Linkage, NSGC Region 1 Newsletter, October 7, 2002

Standards and Guidelines for CFTR Mutation Testing
Richards SC, Brandley LA, Amos J, Allitto B, Grody WW, Maddalena A, McGinniss MJ, Prior TW,
Popovich BW, Watson MS
Genetics in Medicine 2002; Sept-Oct; 4(5): 379-91

Missed Opportunities in Patient Education: Why Knowledge of Family Health History is Important
Cutillo D
Women's Health Advances Today (AAHP) Fall, 2002

New Standard of Care in Carrier Screening: Challenges of Cystic Fibrosis (CF) Screening: Issues Involving Multiracial Testing
Donnenfeld, AE, Sugarman, E
Women's Health Advances Today (AAHP) Fall, 2002

Into the Future: Genetics and Medicine: An Overview of the Future
Miller, GA
Women's Health Advances Today (AAHP) Fall, 2002

Biochemical screening for aneuploidy in ovum donor pregnancies
Donnenfeld A, Pargas C, Dowman C
American Journal of Obstetrics and Gynecology November 2002

Richkind KE
t(2:4)(p23;q25-q35)
Atlas Genet Cytogenet Oncol Hamematol. December 2002

The importance of investigating for uniparental disomy in prenatally-identified balanced acrocentric rearrangements: case report and review of the literature
McGowan K, Weiser J, Horowitz J, Berend SA, McCaskill C, Shaffer L
Prenatal Diagnosis 2002, 22: 141-143

The t(4:11)(q21;p15) in a case of T-cell lymphoma and a case of acute myelogenous leukemia
Thangavelu M, Huang B, Lemieux M, Tom W, Richkind K
Cancer Genetics Cytogenetics 2002 132:2: 109-115

Fetal-type hepatoblastoma and deletion of chromosome 3(q11.2q13.2).
Sandoval C, Piper J, Mowery-Rushton P, Jayabose S
Cancer Genetics & Cytogenetics 2002 134:2: 162-164

Prenatal Diagnosis for 45, X and 45, X mosaicism: The Need for Thorough Cytogenetic and Clinical Evaluations
Huang B, Thangavelu M, Bhatt S, Wang S, Sandlin C
Prenatal Diagnosis 2002 22: 105-110

A familial complex chromosomal rearrangement resulting in a recombinant chromosome
Berend S, Bodamer O, Shapira S, Shaffer L, Bacino C
Am J Med Genet 2002 109(4): 311-317

Identification of uniparental disomy in phenotypically abnormal carriers of isochromosomes or Robertsonian translocations
Berend S, Bejjani B, McCaskill C, Shaffer L
Am J Med Genet 111: 362-365

Genetics for Mass Consumption
Aspinall M, Puck S
Pharmaceutical Executive September 2002

Prenatal Diagnosis from Fetal Urine in bladder outlet obstruction: Success rates for traditional cytogenetic evaluation and interphase fluorescence in situ hybridization
Donnenfeld A, Lockwood D, Lamb A, Custer T
Genetics in Medicine 4(6); Nov 2002: 444-447

Lipopolysaccharide binding protein in microbial invasion of the amniotic cavity and human parturition.
Espinoza J, Romero R, Chaiworapongsa T, Edwin S, Rathnasabapathy C, Tolosa J., Donnenfeld A, Craparo F, Gomez R, Bujold E
The Journal of Maternal-Fetal and Neonatal Medicine 2002; 12: 1-9

Origin of a Central Nervous System Lymphoid Neoplasm in an Immunocompromised Host with Acute Lymphoblastic Leukemia
Mayer S, Jayabose S, Tugal O, Ozkaynak MF, Rosenblum-Vos L, Sandoval C
Leukemia and Lymphoma, 2002, vol. 43(9): 1881-1884.

Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation.
McCormack WM, Shen JJ, Curry SM, Berend SA, Kashork CD, Pinar H, Potocki L, Bejjani BA
American Journal of Medical Genetics 112: 384-389

The I148T CFTR allele occurs on multiple haplotypes: A complex allele is associated with cystic fibrosis
Rohlfs E, Zhou Z, Sugarman E, Heim R, Pace R, Knowles M, Silverman L, Allitto B
Genetics in Medicine 4(5); 2002: 319-323,

Sole cytogenetic abnormality in unicameral bone cyst
Richkind K, Mortimer E, Mowery-Rushton P, Fraire A
Cancer Genetics & Cytogenetics Translocation (16;20)(p11.2;q13) 137; 2002: 153-155,

Targeting multiple genetic aberrations in isolated tumor cells by spectral fluroescence in situ hybridization (S-FISH)
Slovak M, Zhang F, Tcheurekdjian L, Bobadilla D, Bedell V, Arber D, Persons D, Sosman J, Murata-Collins J
Cancer Detec. Prev. 26; 2002: 171-179

Lu, Gary
Prenatal Genetic Diagnosis (in Chinese) book

Genetic Counseling: an indispensible facet of prenatal care
Donnenfeld, A
Pharmaceutical Executive

Parental Origin and Timing of De Novo Robrtsonian Translocation Formation
Bandyopadlgyay R, Heller, A, Knox-Dubois C, McCaskill C, Berend SA, Page SL, Shaffer LG
Am.J.Hum.Genet. 71; 2002: 1456-1462

Hereditary nonpolyposis colorectal cancer in young colorectal cancer patients: high risk versus population based registry
Terdiman JP, Levin TR, Allen BA, Gum JR, Fishback A, Conrad PG, Miller GA, Weinberg V, Bachman R,
Bergoffen J, Stembridge A, Toribara NW, Sleisinger MH, Kim YS
Gastroenterology, 122(4);2002: 940-7

Isochromosome 5p mosaicism at prenatal diagnosis: observations and outcomes in six cases at chorionic villus sampling and one at amniocentesis
Clement Wilson, S, Susman, M, Bain, S, Wohlferd, M, Van Dyke, D, Daniel, A, White, B, McKinlay
Gardner, R
Prenat Diagn 22; 2002: 681-685

2001 Posters and Publications (PDF format)

A Polymorphism at the Diagnostic SNRPN Not I site Produces Atypical Methylation Patterns in Analysis for Prader-Willi Syndrome

Balanced chromosomal whole arm translocations in cancer

Carrier Testing for Seven Diseases Common in eastern European (Ashkenazi) Jewish Population – Implications for Counseling and Testing

Development of Clinical Computer System to Support a National Genetic Counseling Program Carrier

Genetic Counseling for Ultrasound Anomalities - Report of a National Genetic Counseling Program

Identification of familial breast cancer risk during prenatal genetic counseling

Identification of Two Copies of Large inv dup(15) in an Infant counseling

Phenotypic Effects of Chromosome 20 Aneuploidy – A Case of Tetrasomy 20p counseling

Prenatal diagnosis from fetal urine in fetuses with bladder outlet obstruction counseling

Prenatal Diagnosis of a True 46,XX 46, XY Chimerism counseling

The I148T CFTR Mutation Confers a Variable Phenotype and Occurs on Multiple Haplotypes counseling

The Importance of Chromosome Analysis for Assessing the Recurrence Risk in Cases of Anencephaly counseling

Utility of the Profilier Plus (tm) Kit in Resolving Discordant Prenatal Results counseling

Fusion AML1 transcript in a radiation-associated leukemia results in a truncated inhibitory AML1 protein.
Hromas R, Busse T, Carroll A, Mack D, Shopnick R, Zhang DE, Nakshatri H, Richkind K
Blood 97;2001: 2168-2170

Rapid detection of chromosome aneuploidies by prenatal interphase FISH (Fluorescence in situ Hybridization) and its Clinical Utility in Japan
Sawa R, et al (29 authors, Sapeta M, Estabrooks L)
J Obstet and Gynaecol. Res. (Japan) 27; 2001: 41-47

Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded mutation panel and a practical approach to maximizing detection
Heim R, Sugarman E, Allitto G
Genetics in Medicine 3; 2001: 168-176

Prenatal diagnosis from cystic hygroma fluid: the value of fluorescence in situ hybridization
Donnenfeld A, Lockwood D, Lamb A
Am J Obstet Gynecol 185; 2001: 1004-1008

Response: Translocations in radiation-associated leukemias (To the Editor: Radiation-induced leukemia)
Hromas R, Busset T, Carroll T, Mark A, Shopnick R, Zhang DE, Nakshatri H, Richkind K
Blood 97; 2001: 1897-1898

Genetics
Zackai E, Anyane-Yeboa K, Bergoffen J, Donnenfeld A, Ming J
Pediatric Secrets, 3rd edition, edited by Polin R, and Ditmar M., Hanley and Belfus publishers, Philadelphia; 2001

Improved Detection of CFTR mutations in Southern California Hispanic CF Patients
Wong L, Wang J, Zhang Y, Hsu E, Heim R, Bowman C, Woo M
Human Mutation 18; 2001: 296-307

Genetic Testing Services in Europe: Quality Assurance and Policy Issues
Cassiman JJ, Kent A, Miller G, Miny P, Tambuyzer E
J. Commercial Biotechnology 8:2; 2001: 113-123

Satellite III sequences on 14p and their relevance to Robertsonian translocations formation
Bandyopadhyay R, Berend S, Page S, Choo K, Shaffer L
Chromosome Res 9; 2001: 235-242

Prenatal diagnosis of a homologous Robertsonian translocation involving chromosome 15
Abrams D, Aronoff A, Berend S, Roa B, Shaffer L, Geier M
Prenat Diagn 21; 2001: