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Peter Benn, Ph.D.Professor, Genetics and Genome SciencesDirector, Diagnostic Human Genetics Laboratories
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Education
Post-Graduate Training
Degree | Institution | Major |
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B.Sc. | University of St. Andrews | Physics |
M.Sc. | University of Birmingham | Radiobiology |
Ph.D. | University of Birmingham | Cancer Studies |
D.Sc. | University of St. Andrews | Genetics |
Post-Graduate Training
Training | Institution | Specialty |
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Research Studentship | Department of Cancer Studies, University of Birmingham | Research Studentship |
Postdoctoral | Department of Human Genetics, University of Pennsylvania School of Medicine | Post-Doctoral Research Associate |
Name & Description | Category | Role | Type | Scope | Start Year | End Year |
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Chair, International Society for Prenatal Diagnosis, Prenatal Screening Special Interest group | Professional/Scientific Organization | Chair | External | International | 2013 | |
Editor, "Prenatal Perspectives", newsletter of the International Society For Prenatal Diagnosis | Editorial Board | Editor | External | International | 2013 | 2015 |
International Society for Prenatal Diagnosis Committee for Aneuplidy Screening | Professional/Scientific Organization | Chair | External | International | 2011 | |
Scientific Committee Member, Ninth International Congress, International Prenatal Screening Group | Advisory Committee | Scientific Committee Member | External | International | 2010 | 2011 |
Down Screening News/Prenatal Screening Perspectives | Editorial Board | Coordinator and Contributor | External | International | 2007 | 2012 |
Science Workgroup. State of Connecticut Genomics Advisory Panel | Advisory Committee | Co-Chair | External | State | 2005 | |
Scientific Advisory Committee, International Down’s Syndrome Screening Group | Advisory Committee | Member | External | International | 2003 | 2003 |
Program Committee Member, Sixth International Congress, International Down’s Syndrome Screening Group | Advisory Committee | Member | External | International | 2002 | 2003 |
The Disorders of Chromosome 16 Foundation | Community Service | Advisory Board Member | External | National | 1998 | |
Advisory Board, UCONN Storrs, School of Allied Health, Diagnostic Genetic Sciences Program | Advisory Committee | Member | UConn-Storrs | University | 1997 | 1999 |
New England Regional Genetics Group (NERGG) Prenatal Diagnosis Committee | Advisory Committee | Member | External | Regional | 1990 | 1998 |
The American College of Medical Genetics | Professional/Scientific Organization | Member | External | National | ||
International Society for Prenatal Diagnosis | Professional/Scientific Organization | Member | External | International | ||
The American Journal of Medical Genetics | Professional/Scientific Journal | Reviewer | External | National | ||
The American Journal of Medical Genetics | Professional/Scientific Journal | Reviewer | External | National | ||
American Journal of Obstetrics and Gynecology | Professional/Scientific Journal | Reviewer | External | National | ||
Obstetrics and Gynecology | Professional/Scientific Journal | Reviewer | External | National | ||
Genetics in Medicine | Professional/Scientific Journal | Reviewer | External | National | ||
Prenatal Diagnosis | Professional/Scientific Journal | Reviewer | External | National | ||
Clinical Genetics | Professional/Scientific Journal | Reviewer | External | National | ||
Journal of the American Medical Association | Professional/Scientific Journal | Reviewer | External | National | ||
Clinical Chemistry | Professional/Scientific Journal | Reviewer | External | National | ||
Clinica Chimica Acta | Professional/Scientific Journal | Reviewer | External | International | ||
Placenta | Professional/Scientific Journal | Reviewer | External | National | ||
Lancet | Professional/Scientific Journal | Reviewer | External | National |
Research Interests
Clinical diagnoses of genetic disorders are carried out by the clinical Medical Genetics Laboratories in the Department of Pathology and Laboratory Medicine. Women at high risk for fetal aneuploidy are identified through the laboratories’ prenatal screening program. The cytogenetics laboratory provides prenatal diagnosis by karyotyping amniotic fluid cells and chorionic villus samples. Cancer diagnosis and prognosis is carried out through the identification of specific chromosome translocations and other chromosome abnormalities present in leukemias, lymphomas, and solid tumors. Cytogenetic testing is also carried out to identify chromosome abnormalities associated with a variety of clinically defined syndromes and is also available for individuals with a history of infertility or recurrent pregnancy loss. Techniques used in the laboratory include karyotyping, fluorescence in situ hybridization (FISH), various molecular and clinical chemistry tests. We actively seek enhancements to these services and the development of new molecular approaches to the diagnosis of genetic disease.
Recent research activities have focused on the development of improved prenatal screening tests for Down syndrome and other clinically significant aneuploidies. The combination of maternal serum screening and various fetal biometric measurements obtained by ultrasonography can provide highly effective screening for fetal chromosome abnormalities. Recent studies have shown that even better non-invasive testing for fetal chromosome abnormalities can be achieved by sequencing fetal DNA that is present in maternal plasma. . Studies have been carried out on the prevalence of aneuploidy and mathematical models developed that allow the estimation of the detection rates and false-positive rates of various screening protocols.Collaborative work is carried out on the ethical and social impact of prenatal screening and diagnosis.
Other research pursuits include an evaluation of the significance of prenatally detected mosaicism, and in particular, trisomy 16 mosaicism. The preferential involvement of telomeres in the chromosome rearrangements present in aging human cells is also a long-term research interest.
Clinical diagnoses of genetic disorders are carried out by the clinical Medical Genetics Laboratories in the Department of Pathology and Laboratory Medicine. Women at high risk for fetal aneuploidy are identified through the laboratories’ prenatal screening program. The cytogenetics laboratory provides prenatal diagnosis by karyotyping amniotic fluid cells and chorionic villus samples. Cancer diagnosis and prognosis is carried out through the identification of specific chromosome translocations and other chromosome abnormalities present in leukemias, lymphomas, and solid tumors. Cytogenetic testing is also carried out to identify chromosome abnormalities associated with a variety of clinically defined syndromes and is also available for individuals with a history of infertility or recurrent pregnancy loss. Techniques used in the laboratory include karyotyping, fluorescence in situ hybridization (FISH), various molecular and clinical chemistry tests. We actively seek enhancements to these services and the development of new molecular approaches to the diagnosis of genetic disease.
Recent research activities have focused on the development of improved prenatal screening tests for Down syndrome and other clinically significant aneuploidies. The combination of maternal serum screening and various fetal biometric measurements obtained by ultrasonography can provide highly effective screening for fetal chromosome abnormalities. Recent studies have shown that even better non-invasive testing for fetal chromosome abnormalities can be achieved by sequencing fetal DNA that is present in maternal plasma. . Studies have been carried out on the prevalence of aneuploidy and mathematical models developed that allow the estimation of the detection rates and false-positive rates of various screening protocols.Collaborative work is carried out on the ethical and social impact of prenatal screening and diagnosis.
Other research pursuits include an evaluation of the significance of prenatally detected mosaicism, and in particular, trisomy 16 mosaicism. The preferential involvement of telomeres in the chromosome rearrangements present in aging human cells is also a long-term research interest.
Not accepting students for Lab Rotations at this time
Journal Articles
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Uniparental disomy: Origin, frequency, and clinical significance.
Prenatal diagnosis 2020 Nov;
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Review of epidemiological factors (other than maternal age) that determine the prevalence of common autosomal trisomies.
Prenatal diagnosis 2020 Sep;
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Obituary: Lillian YF Hsu, MD, FFACMG.
Prenatal diagnosis 2020 Aug;
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Aneuploidy in first trimester chorionic villi and spontaneous abortions: Windows into the origin and fate of aneuploidy through embryonic and fetal development.
Prenatal diagnosis 2020 Jul;
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Correction: Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.
Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jul;22(7):1282
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Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.
Genetics in medicine : official journal of the American College of Medical Genetics 2020 May;
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Combining the use of a fetal fraction-based risk algorithm and probability of an informative redraw in noninvasive prenatal testing for fetal aneuploidy.
Journal of genetic counseling 2019 Dec;
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Cell-free DNA fetal fraction in twin gestations in single-nucleotide polymorphism-based noninvasive prenatal screening.
Prenatal diagnosis 2019 Nov;
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Quality Assurance of Non-Invasive Prenatal Screening (NIPS) for Fetal Aneuploidy Using Positive Predictive Values as Outcome Measures.
Journal of clinical medicine 2019 Aug;8(9):
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Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA.
Genetics in medicine : official journal of the American College of Medical Genetics 2019 Aug;
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Validation of a Single-Nucleotide Polymorphism-Based Non-Invasive Prenatal Test in Twin Gestations: Determination of Zygosity, Individual Fetal Sex, and Fetal Aneuploidy.
Journal of clinical medicine 2019 Jun;8(7):
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Rare autosomal trisomies (RATs): a comparison of the detection through cell-free DNA and chorionic villus sampling.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2019 Jun;
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Screening for 22q11.2 deletion syndrome by two non-invasive prenatal testing methodologies: A case with discordant results.
Taiwanese journal of obstetrics & gynecology 2019 Jan;58(1):40-42
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Current Controversies in Prenatal Diagnosis 2: NIPT Results Suggesting Maternal Cancer Should Always Be Disclosed.
Prenatal diagnosis 2018 Nov;
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Factors Associated With Informative Redraw After an Initial No Result in Noninvasive Prenatal Testing.
Obstetrics and gynecology 2018 Aug;132(2):428-435
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Fetal fraction-based risk algorithm for non-invasive prenatal testing: screening for trisomy 13, 18, and triploidy in women with low cell-free fetal DNA.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2018 Jul;5373-79
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Pediatric healthcare costs for patients with 22q11.2 deletion syndrome.
Molecular genetics & genomic medicine 2017 Nov;5(6):631-638
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Clinical Experience with a Single-Nucleotide Polymorphism-Based Noninvasive Prenatal Test for Five Clinically Significant Microdeletions.
Clinical genetics 2017 Jul;93293-300
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Sequential combined test, second trimester maternal serum markers, and circulating fetal cells to select women for invasive prenatal diagnosis.
PloS one 2017 Jan;12(12):e0189235
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Aneuploidy screening using circulating fetal cells in maternal blood by dual-probe FISH protocol: a prospective feasibility study on a series of 172 pregnant women.
Molecular genetics & genomic medicine 2016 Nov;4(6):634-640
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Ethical and practical challenges in providing noninvasive prenatal testing for chromosome abnormalities: an update.
Current opinion in obstetrics & gynecology 2016 Apr;28(2):119-24
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Current controversies in prenatal diagnosis 1: should NIPT routinely include microdeletions/microduplications?(†).
Prenatal diagnosis 2015 Oct;3610-4
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Clinical Experience with Single-Nucleotide Polymorphism-Based Noninvasive Prenatal Screening for 22q11.2 Deletion Syndrome.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2015 Sep;47177-83
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Noninvasive prenatal testing for 22q11.2 deletion syndrome: deeper sequencing increases the positive predictive value.
American journal of obstetrics and gynecology 2015 May;213(2):254-5
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Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis.
Prenatal diagnosis 2015 May;35(8):725-34
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Re: Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146 958 pregnancies. H. Zhang, Y. Gao, F. Jiang, M. Fu, Y. Yuan, Y. Guo, Z. Zhu, M. Lin, Q. Liu, Z. Tian, H. Zhang, F. Chen, T. K. Lau, L. Zhao, X. Yi, Y. Yin and W. Wang. Ultrasound Obstet Gynecol 2015; 45: 530-538.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2015 May;45(5):512-3
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An Economic Analysis of Cell-Free DNA Non-Invasive Prenatal Testing in the US General Pregnancy Population.
PloS one 2015 Jan;10(7):e0132313
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Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes.
American journal of obstetrics and gynecology 2014 Dec;212(3):332.e1-9
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Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing.
American journal of obstetrics and gynecology 2014 Aug;211(5):527.e1-527.e17
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Theoretical performance of non-invasive prenatal testing for chromosome imbalances using counting of cell-free DNA fragments in maternal plasma.
Prenatal diagnosis 2014 Mar;34(8):778-83
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Obstetricians and gynecologists' practice and opinions of expanded carrier testing and noninvasive prenatal testing.
Prenatal diagnosis 2013 Nov;34(2):145-52
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Nuchal translucency and cardiac abnormalities in euploid singleton pregnancies.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2013 Jul;27(5):495-9
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Maternal cfDNA screening for Down syndrome--a cost sensitivity analysis.
Prenatal diagnosis 2013 Jul;33(7):636-42
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Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis.
Prenatal diagnosis 2013 Jul;33(7):622-9
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Impact of diabetes on aneuploidy screening.
Clinics in laboratory medicine 2013 Jun;33(2):271-80
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Efficacy of the genetic sonogram in a stepwise sequential protocol for Down syndrome screening
Journal of Ultrasound in Medicine 2012 Sep;32(9):1607-13
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Optimal cut-offs for Down syndrome contingent screening in a population of 10156 women.
Prenatal Diagnosis 2012 Aug;321147-50
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Non-invasive prenatal diagnosis for Down syndrome: the paradigm will shift, but slowly.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2012 Feb;39(2):127-30
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Comparison of two protocols for ultrasound markers in Down syndrome screening by the genetic sonogram.
Am J Obstet Gynecol 2012 Jan;206((1)suppl S320):
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Follow-up frequency of testing in patients at very low risk for Trisomy 21 on first trimester screening.
Am J Obstet Gynecol 2012 Jan;206((1) supp:S3):
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Follow-up testing of first trimester patients who screen positive for trisomy 21.
Am J Obstet Gynecol 2012 Jan;206((1) S312):
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Prenatal Detection of Down Syndrome using Massively Parallel Sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011.
Prenatal diagnosis 2012 Jan;32(1):1-2
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Comparison of combined, stepwise sequential, contingent, and integrated screening in 7292 high-risk pregnant women.
Prenatal diagnosis 2011 Nov;31(11):1077-81
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Aneuploidy screening: a position statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, January 2011.
Prenatal diagnosis 2011 Jun;31(6):519-22
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Distortions of sex ratios at birth in the United States; evidence for prenatal gender selection.
Prenatal diagnosis 2011 Jun;31(6):560-5
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Demographic differences in Down syndrome livebirths in the US from 1989 to 2006.
Prenatal diagnosis 2011 Apr;31(4):389-94
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Jewish Eugenics: John Glad, a Book Review
American Journal of Human Biology 2011 Jan;23(5):725-726
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Treatment of synchronous mantle cell lymphoma and small lymphocytic lymphoma with bendamustine and rituximab.
Acta haematologica 2011 Jan;126(1):40-3
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Ethical challenges in providing noninvasive prenatal diagnosis.
Current opinion in obstetrics & gynecology 2010 Apr;22(2):128-34
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Aneuploidy Screening: a Position Statement from a Committee on Behalf of the Board of the International Society for Prenatal Diagnosis
Prenat Diagn 2010 Jan;31519-522
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Down syndrome screening in the United States in 2001 and 2007: a survey of maternal-fetal medicine specialists.
American journal of obstetrics and gynecology 2009 Jul;201(1):97.e1-5
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Practical and ethical considerations of noninvasive prenatal diagnosis.
JAMA 2009 May;301(20):2154-6
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Use of the genetic sonogram in the United States in 2001 and 2007
Obstetrical and Gynecological Survey 2009 Jan;64(4):225-227
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Use of the genetic sonogram in the United States in 2001 and 2007.
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine 2008 Nov;27(11):1543-8
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Expected performance of second trimester maternal serum testing followed by a 'genetic sonogram' in screening of fetal Down syndrome.
Prenatal diagnosis 2008 Mar;28(3):230-5
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Human lymphocyte culture and chromosome analysis.
CSH protocols 2008 Jan;2008pdb.prot5035
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Maternal weight of pregestational diabetic and nondiabetic women
Am J Obstet Gynecol. 2008 Jan;199(6):s144
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Trends in maternal weight from 1992 to 2008.
Am J Obstet Gynecol. 2008 Jan;199(6):s105
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Stepwise sequential screening for fetal aneuploidy.
American journal of obstetrics and gynecology 2007 Sep;197(3):312.e1-5
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On the genesis and prognosis of variant translocations in chronic myeloid leukemia.
Cancer genetics and cytogenetics 2007 Mar;173(2):97-106
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Absent or shortened nasal bone length and the detection of Down Syndrome in second-trimester fetuses.
Obstetrics and gynecology 2007 Feb;109(2 Pt 1):371-5
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Reproducibility of risk figures in 2nd-trimester maternal serum screening for down syndrome: comparison of 2 laboratories.
Clinical chemistry 2006 Nov;52(11):2087-94
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Tonsillar abscess formation due to herpes simplex type-1 in a severely immunocompromised stem cell transplant patient with chronic myeloid leukemia.
Transplant infectious disease : an official journal of the Transplantation Society 2006 Sep;8(3):166-70
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Chromosomal abnormalities and adverse pregnancy outcome with maternal serum second trimester triple screening test for fetal Down syndrome in 4,860 Chinese women.
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 2006 Feb;38(1):49-52
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Three-stage contingent screening for Down syndrome
Prenatal Diagnosis 2006 Jan;26(6):528-534
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Sequential Down syndrome screening: the importance of first and second trimester test correlations when calculating risk.
Journal of genetic counseling 2005 Dec;14(6):409-13
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Variation of fetal nasal bone length in second-trimester fetuses according to race and ethnicity.
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine 2005 Nov;24(11):1487-9
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Early growth response gene 1 (EGR1) is deleted in estrogen receptor-negative human breast carcinoma.
Cancer 2005 Sep;104(5):925-30
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Practical strategies in contingent sequential screening for Down syndrome.
Prenatal diagnosis 2005 Aug;25(8):645-52
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Contingent screening for Down syndrome is an efficient alternative to non-disclosure sequential screening.
Prenatal diagnosis 2004 Oct;24(10):762-6
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Correlation of second-trimester sonographic and biochemical markers.
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine 2004 Apr;23(4):505-11
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Combined sonographic and biochemical markers for Down syndrome screening.
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine 2003 Nov;22(11):1185-90
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Incorporation of inhibin-A in second-trimester screening for Down syndrome.
Obstetrics and gynecology 2003 Mar;101(3):451-4
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Cost analysis of Down syndrome screening in advanced maternal age.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2003 Feb;13(2):80-4
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Combined second-trimester biochemical and ultrasound screening for Down syndrome.
Obstetrics and gynecology 2002 Dec;100(6):1168-76
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Extreme second-trimester serum analyte values in down syndrome pregnancies with hydrops fetalis.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2002 Apr;11(4):262-5
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The fetal cerebellar vermis: normal development as shown by transvaginal ultrasound.
Prenatal diagnosis 2001 Aug;21(8):687-92
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Estimates for the sensitivity and false-positive rates for second trimester serum screening for Down syndrome and trisomy 18 with adjustment for cross-identification and double-positive results.
Prenatal diagnosis 2001 Jan;21(1):46-51
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Evaluation of effect of analytical imprecision in maternal serum screening for Down's syndrome.
Annals of clinical biochemistry 2001 Jan;38(Pt 1):28-36
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Efficacy of screening for fetal Down syndrome in the United States from 1974 to 1997.
Obstetrics and gynecology 2000 Dec;96(6):979-85
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Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: karyotype-phenotype correlations.
Prenatal diagnosis 2000 Feb;20(2):103-22
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Prenatally diagnosed sacrococcygeal teratoma: a unique expression of trisomy 1q.
Cancer genetics and cytogenetics 2000 Feb;117(1):84-6
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Elevated maternal serum alpha-fetoprotein with low unconjugated estriol and the risk for lethal perinatal outcome.
The Journal of maternal-fetal medicine 2000 Jan;9(3):165-9
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Unexplained elevated midtrimester maternal serum levels of alpha fetoprotein, human chorionic gonadotropin, or low unconjugated estriol: recurrence risk and association with adverse perinatal outcome.
The Journal of maternal-fetal medicine 2000 Jan;9(3):161-4
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Attenuated familial adenomatous polyposis in a man with an interstitial deletion of chromosome arm 5q.
American journal of medical genetics 1999 Oct;86(4):321-4
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Predictive value of the triple screening test for the phenotype of Down syndrome.
American journal of medical genetics 1999 Jul;85(2):123-6
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Maternal serum screening for fetal trisomy 18: a comparison of fixed cutoff and patient-specific risk protocols.
Obstetrics and gynecology 1999 May;93(5 Pt 1):707-11
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X-chromosome abnormalities in women with premature ovarian failure.
The Journal of reproductive medicine 1999 Apr;44(4):321-4
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Economic evaluation of prenatal screening for Down syndrome in the U.S.A.
Prenatal diagnosis 1998 Dec;18(12):1241-52
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45,X/46,XX mosaicism in patients with idiopathic premature ovarian failure.
Fertility and sterility 1998 Jul;70(1):89-93
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Preliminary evidence for associations between second-trimester human chorionic gonadotropin and unconjugated oestriol levels with pregnancy outcome in Down syndrome pregnancies.
Prenatal diagnosis 1998 Apr;18(4):319-24
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Aging chromosome telomeres: parallel studies with terminal repeat and telomere associated DNA probes.
Mechanisms of ageing and development 1997 Dec;99(2):153-66
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Down syndrome and neural tube defect screening: the value of using gestational age by ultrasonography.
American journal of obstetrics and gynecology 1997 May;176(5):1056-61
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Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3.
American journal of human genetics 1997 Mar;60(3):574-80
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Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21: karyotype/phenotype correlations.
Prenatal diagnosis 1997 Mar;17(3):201-42
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Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15.
American journal of medical genetics 1997 Feb;68(4):433-40
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Medians for second-trimester maternal serum alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol; differences between races or ethnic groups.
Clinical chemistry 1997 Feb;43(2):333-7
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Trisomy 16 mosaicism in amniotic fluid cell cultures.
Prenatal diagnosis 1996 Aug;16(8):749-54
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Maternal serum screening for birth defects: results of a Connecticut regional program.
Connecticut medicine 1996 Jun;60(6):323-7
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Elevated second-trimester maternal serum hCG alone or in combination with elevated alpha-fetoprotein.
Obstetrics and gynecology 1996 Feb;87(2):217-22
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Trisomy 16 fetus surviving into the second trimester.
Prenatal diagnosis 1995 Nov;15(11):1078-81
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Prenatal diagnosis of diverse chromosome abnormalities in a population of patients identified by triple-marker testing as screen positive for Down syndrome.
American journal of obstetrics and gynecology 1995 Aug;173(2):496-501
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Comparison of high resolution chromosome banding and fluorescence in situ hybridization (FISH) for the laboratory evaluation of Prader-Willi syndrome and Angelman syndrome.
American journal of medical genetics 1994 Aug;52(1):85-91
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Variable clinical expression of mosaic trisomy 16 in the newborn infant.
American journal of medical genetics 1993 Aug;47(2):294-8
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Review of the cytogenetic changes in acute megakaryoblastic leukemia: one disease or several?
Cancer genetics and cytogenetics 1993 Jun;67(2):81-9
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Steroid hormone receptor immunohistochemistry and amplification of c-myc protooncogene. Relationship to disease-free survival in breast cancer.
Cancer 1993 Jan;71(1):162-71
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Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies.
Prenatal diagnosis 1992 Jul;12(7):555-73
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Does the breakpoint within the major breakpoint cluster region (M-bcr) influence the duration of the chronic phase in chronic myeloid leukemia? An analytical comparison of current literature.
Blood 1991 Sep;78(5):1155-61
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Densitometric analysis of Southern blot autoradiographs and its application to monitoring patients with chronic myeloid leukemia.
Leukemia 1991 Jul;5(7):540-7
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Highly complex genetic rearrangement involving at least seven breakpoints in a case of chronic myeloid leukemia.
Cancer genetics and cytogenetics 1990 Aug;48(1):75-81
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Multiple restriction enzyme digests are required to rule out polymorphism in the molecular diagnosis of chronic myeloid leukemia.
Leukemia 1990 Jan;4(1):63-4
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r-Gamma interferon (Biogen) has activity in treating chronic myeloid leukemia
Am J Clin Oncol 1990 Jan;1349-54
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Fine mapping of chromosome 22 breakpoints within the breakpoint cluster region (bcr) implies a role for bcr exon 3 in determining disease duration in chronic myeloid leukemia.
American journal of human genetics 1989 Nov;45(5):729-38
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Location of breakpoints within the major breakpoint cluster region (bcr) in 33 patients with bcr rearrangement-positive chronic myeloid leukemia (CML) with complex or absent Philadelphia chromosomes.
Genes, chromosomes & cancer 1989 Sep;1(1):106-11
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Molecular characterization of variant translocations in chronic myelogenous leukemia.
Oncogene 1989 Sep;4(9):1145-8
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Does the site of the breakpoint on chromosome 22 influence the duration of the chronic phase in chronic myeloid leukemia?
Leukemia 1989 Aug;3(8):545-7
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A comparison of cell growth and chromosome abnormalities in amniotic fluid cell cultures grown in Chang-C media and RPMI-1640 media
Karyogram 1989 Jan;1155-58
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Comparison of phenotyping and genotyping of lymphoid neoplasms.
Journal of clinical laboratory analysis 1989 Jan;3(3):156-62
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A rare restriction enzyme site polymorphism in the breakpoint cluster region (bcr) of chromosome 22.
Leukemia 1988 Nov;2(11):760-2
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The karyotype of Philadelphia chromosome-negative, bcr rearrangement-positive chronic myeloid leukemia.
Cancer genetics and cytogenetics 1988 Oct;35(2):223-9
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A new translocation involving chromosomes 8 and 9 in a Philadelphia-negative chronic myelogenous leukemia.
Cancer genetics and cytogenetics 1988 Oct;35(1):51-4
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Clonal immunoglobulin gene rearrangements in chronic lymphocytic leukemia: a correlative study.
American journal of hematology 1988 Apr;27(4):257-64
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Dual genotype in cutaneous T cell lymphoma: immunoglobulin gene rearrangement in clonal T cell malignancy.
The Journal of investigative dermatology 1988 Jan;90(1):73-7
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Marker discrepancy as a diagnostic criterion for lymphoid neoplasms.
Diagnostic and clinical immunology 1988 Jan;5(6):393-9
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Rearrangement of the breakpoint cluster region (bcr) of chromosome 22 as a diagnostic marker for chronic myeloid leukemia
J Tumor Marker Oncology 1988 Jan;3101-105
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The application of DNA-PRINT for the estimation of paternity
Adv Forensic Haemogenet 1988 Jan;2354-358
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The location of breakpoints within the breakpoint cluster region (bcr) of chromosome 22 in chronic myeloid leukemia
Leukemia 1988 Jan;2642-647
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Use of immunoglobulin gene rearrangement to stage disease severity in chronic lymphocytic leukemia
J Tumor Marker Oncology 1988 Jan;393-99
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Utility of molecular genetic analysis of bcr rearrangement in the diagnosis of chronic myeloid leukemia.
Cancer genetics and cytogenetics 1987 Nov;29(1):1-7
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Prenatal diagnosis of minute 5p- deletion: a cytogenetic problem in detection.
Obstetrics and gynecology 1987 Sep;70(3 Pt 2):449-52
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Chromosomal polymorphisms of 1, 9, 16, and Y in 4 major ethnic groups: a large prenatal study.
American journal of medical genetics 1987 Jan;26(1):95-101
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Evidence for preferential involvement of chromosome bands 6p21 and 13q14 in amniotic fluid cell balanced translocation pseudomosaicism.
Clinical genetics 1986 Feb;29(2):116-21
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The centralized prenatal genetics screening program of New York City III: The first 7,000 cases.
American journal of medical genetics 1985 Feb;20(2):369-84
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Incidence and significance of supernumerary marker chromosomes in prenatal diagnosis.
American journal of human genetics 1984 Sep;36(5):1092-102
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Maternal cell contamination of amniotic fluid cell cultures from two consecutive pregnancies complicated by fibroids.
Prenatal diagnosis 1984 Jan;4(2):151-3
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Pericentric inversion of the Y chromosome and prenatal diagnosis.
Prenatal diagnosis 1984 Jan;4(6):463-5
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Prenatal diagnosis of chromosome mosaicism.
Prenatal diagnosis 1984 Jan;4(1):1-9
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A fetus with a chromosome 13 ring and placenta with chromosome 13 rod/ring mosaicism.
Prenatal diagnosis 1983 Oct;3(4):297-302
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Maternal cell contamination of amniotic fluid cell cultures: results of a U.S. nationwide survey.
American journal of medical genetics 1983 Jun;15(2):297-305
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A high incidence of maternal cell contamination of amniotic fluid cell cultures.
American journal of medical genetics 1983 Feb;14(2):361-5
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Prenatal diagnosis of 49, XXXYY.
Prenatal diagnosis 1982 Oct;2(4):309-12
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Reversion from deficiency of galactose-1-phosphate uridylytransferase (GALT) in an SV40-transformed human fibroblast line.
Somatic cell genetics 1981 Nov;7(6):667-82
-
The centralized prenatal genetics screening program of New York City: II. Establishment of prenatal diagnosis laboratory.
American journal of medical genetics 1981 Jan;8(3):331-9
-
Assignment of a gene for uridine diphosphate galactose-4-epimerase to human chromosome 1 by somatic cell hybridization, with evidence for a regional assignment to 1pter yields 1p21.
Cytogenetics and cell genetics 1979 Jan;24(3):138-42
-
Confirmation of the assignment of the gene for galactose-1-phosphate uridylyltransferase (E.C. 2.7.7.12) to human chromosome 9.
Cytogenetics and cell genetics 1979 Jan;24(1):37-41
-
Subpopulations of cytogenetically abnormal cells in fibroblast cultures derived from workers exposed to mineral oil.
Journal of the National Cancer Institute 1978 Jan;60(1):45-50
-
Assignment of the genes for human beta-glucuronidase and mitochondrial malate dehydrogenase to the region pter leads to q22 of chromosome 7.
Cytogenetics and cell genetics 1977 Jan;19(5):273-80
-
Assignment of the human gene for enolase 1 to region pter in equilibrium p36 of chromosome 1.
Cytogenetics and cell genetics 1977 Jan;18(6):327-32
-
Population kinetics of chromosomally abnormal human fibroblast subpopulations.
Cytogenetics and cell genetics 1977 Jan;19(2-3):136-45
-
Specific break points in chromosomally abnormal human fibroblast subpopulations.
Cytogenetics and cell genetics 1977 Jan;19(2-3):118-35
-
Cytogenetically marked clones in human fibroblasts cultured from normal subjects.
Somatic cell genetics 1976 Jan;2(1):55-62
-
Specific chromosome aberrations in senescent cell lines derived from human embryos
Am J Hum Genet 1976 Jan;28(5):465-473
-
A method for the isolation of urinary proteins.
Journal of chromatography 1975 Feb;104(2):465-6
-
Phenylbutazone and chromosome damage
Ann Rheum Dis 1975 Jan;34(5):409-415
Book Chapters
-
Prenatal diagnosis of chromosome abnormalities through amniocentesis
Genetic disorders and the fetus 2010 Jan;194-272
-
Prenatal diagnosis of chromosome abnormalities through amniocentesis
Genetic disorders and the fetus 2004 Jan;214-296
-
Chromosome staining and Banding Techniques
Human Cytogenetics: a practical approach 2001 Jan;99-128
-
Cost-effectiveness of estimating gestational age by ultrasonography in Down syndrome screening.
Obstetrics and gynecology 1999 Jul;94(1):29-33
-
The role of the BCR/ABL oncogene in human leukemia
Advances in Genome Biology 1995 Jan;305-335
-
Expanding multiple marker screening for Down's syndrome to include Edward's syndrome.
Prenatal diagnosis 1993 Sep;13(9):843-50
-
Chromosome staining and Banding Techniques
Human Cytogenetics: a practical approach 1992 Jan;91-118
-
Cytogenetics
Clinical Laboratory Medicine 1992 Jan;1144-1165
-
Chromosome staining and Banding Techniques
Human Cytogenetics: a practical approach 1978 Jan;57-83
Abstracts
-
Comparison of two protocols for ultrasound markers in Down syndrome screening by the genetic sonogram
Am J Obstet Gynecol 2012 Jan;206S320
-
Follow-up frequency of testing in patients at very low risk for Trisomy 21 on first trimester screening.
Am J Obstet Gynecol 2012 Jan;206S321
-
Follow-up testing of first trimester patients who screen positive for trisomy 21
Am J Obstet Gynecol 2012 Jan;312S312
-
Obstetrical complications associated with abnormal maternal serum markers analytes.
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obste´trique et gyne´cologie du Canada : JOGC 2012 Jan;30(10):918-49
-
Do differences in Down syndrome livebirth rates by maternal education persist after controlling for maternal age?
Am J Obstet Gynecol 2011 Jan;204S233
-
Do differences in the sex ratio at birth by race and nationality suggest prenatal gender selection in the US?
Am J Obstet Gynecol 2011 Jan;204S245
-
Efficacy of first-trimester nuchal translucency cutoffs to screen for second trimester cardiac abnormalities
Am J Obstet Gynecol 2011 Jan;204S134
-
First-trimester nuchal translucency cutoffs to detect second trimester cardiac abnormalities in euploid fetuses.
21st World Congress on Ultrasound in Obstetrics and Gynecology.Los Angelis, CA. 2011 2011 Jan;
-
Gender selection in the United States
Ninth International Congress, International Prenatal Screening Group. Barcelona. 2011 Jan;
-
Ductus venosus pulsatility index measurement reduces the false-positive rate in first-trimester screening.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2010 Dec;36(6):661-7
-
Amniocentesis rates in non-diabetic women in the US from 1990-2005
Am J Obstet Gynecol 2009 Jan;201S136
-
Are there regional differences in Down syndrome livebirths?
Am J Obstet Gynecol 2009 Jan;201S220
-
Efficacy of an isolated echogenic focus as a marker for Down syndrome
J Ultrasound Med 2009 Jan;28S139
-
An update on trends in Down syndrome livebirths in the U. S. from 1989 to 2005
Am J Obstet Gynecol 2008 Jan;199S168
-
An update on trends in maternal age and Down syndrome fetuses in the U. S. from 1975 to 2005
Am J Obstet Gynecol 2008 Jan;199S187
-
Changes in antenatal down syndrome risk assessment in the US from 2001 to 2007
Am J Obstet Gynecol 2008 Jan;197(6 Suppl 1):S170
-
Changes in Down syndrome screening practices in the US from 2001 to 2007
Am J Obstet Gynecol 2008 Jan;197(6 Suppl 1):S54
-
Contingency based provision of a genetic sonogram for women receiving second trimester maternal serum Down syndrome screening.
Am J Obstet Gynecol 2008 Jan;197(6 Suppl 1):S170
-
Down syndrome screening strategies utilized by United States Maternal-Fetal Medicine specialists in 2007
Am J Obstet Gynecol 2008 Jan;197(6 Suppl 1):S170
-
Maternal weight of pregestational diabetic and nondiabetic women
Am J Obstet Gynecol 2008 Jan;199S144
-
Placental pathologic findings associated with intrauterine growth restriction, preeclampsia and normal pregnancies
Am J Obstet Gynecol 2008 Jan;199S97
-
Prediction of adverse pregnancy outcome using the results of the second trimester quadruple maternal serum screening test
Am J Obstet Gynecol 2008 Jan;199S193
-
Trends in maternal weight from 1992 to 2008
Am J Obstet Gynecol 2008 Jan;199S105
-
Twin to twin transfusion syndrome (TTTS) in the U. S. from 1990 to 2001Changes in Down syndrome screening practices in the US from 2001 to 2007
Am J Obstet Gynecol 2008 Jan;197(6 Suppl 1):S85
-
Changes in Down syndrome and trisomy 18 risks in women receiving sequential prenatal screening
Am J Obstet Gynecol 2006 Jan;195(6 Suppl 1):S194
-
The acceptability of sequential first and second trimester screening for fetal aneuploidy
Am J Obstet Gynecol 2006 Jan;195(6 Suppl 1):S194
-
Trends in dizygotic twins by state in the U. S. From 1990 to 2001
Am J Obstet Gynecol 2006 Jan;195(6 Suppl 1):S217
-
Trends in Twin Zygosity in the U. S. by Maternal Race from 1990 to 2001
Am J Obstet Gynecol 2006 Jan;195(6 Suppl 1):S210
-
Efficacy of absent or shortened nasal bone length for down syndrome detection in second trimester fetuses
Am J Obstet Gynecol 2005 Jan;191S45
-
JAK2 to the rescue-differential diagnosis of a patient with “Ph-positive” myeloproliferative disorder
J Mol Diagn 2005 Jan;79H32
-
Second trimester maternal serum screening for down syndrome: Amniocentesis rates and the net number of affected pregnancies identified
Am J Obstet Gynecol 2005 Jan;191S46
-
The changing geographic distribution of advanced maternal age in the United States from 1989 to 2002
Am J Obstet Gynecol 2005 Jan;191S126
-
Utilization of second trimester maternal serum screening for Down syndrome by advanced maternal age women
Am J Obstet Gynecol 2005 Jan;191S46
-
Variation of fetal nasal bone length expressed as a continuous variable according to race and ethnicity in second trimester fetuses
Am J Obstet Gynecol 2005 Jan;191S174
-
SURUSS in perspective.
BJOG : an international journal of obstetrics and gynaecology 2004 Jun;111(6):521-31
-
Down syndrome live births in the U.S. from 1989 to 2001
Am J Obstet Gynecol 2004 Jan;189S98
-
Nuchal fold thickness as a marker for congenital cardiac defects
Am J Obstet Gynecol 2004 Jan;189S232
-
What is the real risk for trisomy 18?
Am J Obstet Gynecol 2004 Jan;189S233
-
Combined ultrasound and biochemical markers for Down syndrome screening: the seven marker test
Am J Obstet Gynecol 2003 Jan;187S157
-
Fetal gender and second trimester maternal serum screen markers
Am J Obstet Gynecol 2003 Jan;187S161
-
Nuchal fold as a continuous or ordinal variable in the antenatal detection of Down syndrome
Ultrasound Med Biol 2003 Jan;29(5S):S22
-
Down's syndrome screening with nuchal translucency at 12(+0)-14(+0) weeks and maternal serum markers at 14(+1)-17(+0) weeks: a prospective study.
Human reproduction (Oxford, England) 2002 Apr;17(4):1093-8
-
Significance of a prenatally diagnosed del(10)(q23).
American journal of medical genetics 2002 Jan;107(2):174-6
-
Antenatal screening for Down syndrome in the U.S. in 2001:A survey of maternal-fetal medicine specialists
Am J Obstet Gynecol 2002 Jan;185S219
-
Cost analysis of Down syndrome screening by maternal age with or without the triple screen
Society for Maternal Fetal Medicine, New Orleans 2002 Jan;
-
Cost analysis of Down syndrome screening in the advanced maternal age population
Am J Obstet Gynecol 2002 Jan;185S205
-
Cost analysis of Down syndrome screening with or without the triple screen
Am J Obstet Gynecol 2002 Jan;185S220
-
Do second trimester ultrasound markers correlate with serum screen analytes?
Am J Obstet Gynecol 2002 Jan;185S248
-
Preliminary estimate for the detection rate of 45,X pregnancies using the second trimester maternal serum triple test
Am J Hum Genet 2002 Jan;71A561
-
Risk adjustment in Down syndrome screening in the US in 2001: A survey of maternal-fetal medicine specialists
Am J Obstet Gynecol 2002 Jan;185S219
-
Trends in Down syndrome births in the US from 1989 to 1999: An analysis by maternal age
Am J Obstet Gynecol 2002 Jan;185S219
-
Role of ultrasound for Down syndrome screening in advanced maternal age.
American journal of obstetrics and gynecology 2001 Nov;185(5):1028-31
-
Combined second trimester biochemical and ultrasound screening for Down syndrome is highly effective
Am J Obstet Gynecol 2001 Jan;185S78
-
Maternal serum ITA utility for prenatal Down syndrome detection: a pilot study using a new automated assay
Am J Hum Genet 2001 Jan;69A207
-
New estimates for the efficacy of second trimester serum screening for Down syndrome and trisomy 18; adjustment for cross-identification and double-positive results
Am J Obstet Gynecol 2001 Jan;184S108
-
Second trimester screening for Down syndrome preferentially identifies affected pregnancies that are complicated by fetal hydrops
Am J Hum Genet 2001 Jan;69A663
-
The geographic distribution of advanced maternal age in the US from 1989 to 1997
Am J Obstet Gynecol 2001 Jan;184S54
-
Trends in Down syndrome births the U.S. from 1989 to 1998: an analysis by maternal age
Am J Obstet Gynecol 2001 Jan;184S54
-
Abnormal maternal serum inhibin-A levels in trisomy 16 mosaic pregnancies
Am. J. Hum. Genet 1999 Jan;65A172
-
Selecting an optimal statagy for second trimester trisomy 18 screening
Am J Obstet Gynecol 1999 Jan;180S58
-
A comparison of the fixed cut-off and patient-specific risk protocols in the maternal serum screening for trisomy 18
Am J Hum Genet 1998 Jan;63A159
-
Attenuated familial adenomatous polyposis in an adult with interstitial deletion of chromosome 5q
Am J Hum Gen 1998 Jan;63A82
-
The predictive value of the triple screening test for the phenotype of Down syndrome
Am J Hum Genet 1998 Jan;63A120
-
Origin of amnion and implications for evaluation of the fetal genotype in cases of mosaicism.
Prenatal diagnosis 1997 Jan;22(12):1076-85
-
Serum markers for Down's syndrome in relation to number of previous births and maternal age.
Prenatal diagnosis 1996 Aug;16(8):699-703
-
The significance of rare trisomy mosaicism diagnosed in amniocytes
Am J Hum Genet 1996 Jan;59A202
-
An association between trisomy 16 (and other fetal aneuploidy) in women with grossly elevated second trimester maternal serum human chorionic gonadotropin (MSHCG)
Am J Hum Genet 1995 Jan;57A275
-
Increased frequency of monosomy-X cells detectable by fluorescence in-situ hybridization (FISH) in women with premature ovarian failure (POF)
Am J Med Genet 1994 Jan;52372
-
Pregnancy outcome in patients with a second trimester triple screen-positive for trisomy eighteen
Am J Obstet Gynecol 1994 Jan;170354
-
Maternal serum screening for Down syndrome (DS) may also preferentially identify some fetuses with supernumerary “marker” chromosomes (SMCs)
Am J Hum Genet 1993 Jan;53A1382
-
Cytogenetic studies of bone marrow fibroblasts cultured from patients with myelofibrosis and myeloid metaplasia.
British journal of haematology 1992 Feb;80(2):184-8
-
Mosaic trisomy 16 in the newborn: a recognizable syndrome
Am J Hum Genet 1992 Jan;51A303
-
Oncogenes elk and ets, chromosome changes and synovial sarcoma
Am J Hum Genet 1992 Jan;51A278
-
Discordancy between DNA analysis and cytogenetic analysis in fragile-X diagnosis
Dysmorphology and Clin Genet 1991 Jan;
-
Long-term evaluation of the leukemic clone in CML patients by densitometry of Southern blot autoradiographs
Am J Hum Genet 1991 Jan;49118A
-
Cytogenetic abnormalities in human bone marrow fibroblasts
Am J Hum Genet 1990 Jan;47A23
-
Cytogenetic studies on bone marrow fibroblasts cultured from patients with primary myelofibrosis
Blood 1990 Jan;76333A
-
Fine mapping of breakpoints in CML and its value to predict response to interferon therapy
Blood 1990 Jan;76231A
-
Infusional cytosine arabinoside (Ara-C) and recombinant interferon-(rIFN) for the treatment of chronic myeloid leukemia (CML)
Proc Am Soc Clin Oncol 1990 Jan;9209
-
Loss of initial clone and emergence of a novel genotype in cutaneous T-cell lymphoma treated with photochemotherapy
J Inv Dermat 1990 Jan;95506A
-
Location of breakpoints within the major breakpoint cluster region (bcr) in 33 patients with bcr rearrangement positive chronic myeloid leukemia (CML) with complex or absent Philadelphia chromosomes
Am J Hum Genet 1989 Jan;45A19
-
Limited heterogeneity of chromosome 22 breakpoints in chronic myeloid leukemia (CML)
Am J Hum Genet 1988 Jan;43A19
-
Restriction enzyme fragment length polymorphisms (RFLP’s) in the breakpoint cluster region of chromosome 22 can be a complication for DNA probe diagnosis of chronic myeloid leukemia (CML)
Blood 1988 Jan;72175A
-
The distribution of chromosome 22 breakpoints in newly diagnosed cases of chronic myeloid leukemia (CML)
Blood 1988 Jan;72179A
-
Unmasking the masked bcr/abl gene in chronic myeloid leukemia
Blood 1988 Jan;72185A
-
Breakpoint cluster region (bcr) rearrangement in chronic myeloid leukemia (CML) with apparently normal or t(9;22) variant karyotypes
Am J Hum Genet 1987 Jan;41A22
-
Chromosome 22 breakpoint location as a predictive factor for early blast crisis in chronic myeloid leukemia (CML)
Blood 1987 Jan;70198A
-
Correlation of clinical status with rearrangement of the heavy chain J segment (JH) in chronic lymphatic leukemia (CLL)
Proc Am Soc Clin Oncol 1987 Jan;640
-
Interferon (rIFN) alpha-2b has activity in treating chronic myeloid leukemia in rIFN gamma failures
Proc Am Soc Clin Oncol 1987 Jan;6587
-
Rearrangement of the breakpoint cluster region (bcr) of chromosome 22 as a diagnostic marker for chronic myeloid leukemia
J Tumor Marker Oncology 1987 Jan;292
-
Use of immunoglobulin gene rearrangements to stage disease severity in chronic lymphocytic leukemia
J Tumor Marker Oncology 1987 Jan;277
-
Clonal rearrangement of T-beta gene and dual genotypes in cutaneous T-cell lymphoma
J Invest Dermat 1986 Jan;86463
-
Gamma interferon (IFN) has activity in treating chronic myeloid leukemia (CML)
Blood 1986 Jan;68232A
-
Progression of the neoplastic lymphocyte clone in chronic lymphocytic leukemia (CLL) monitored by immunoglobulin gene probe analysis
Blood 1986 Jan;68195A
-
The use of DNA-PRINT to determine paternity
Am J Hum Genet 1986 Jan;39A229
-
Three DNA rearrangements in a single patient with Ph1 positive, acute lymphoblastic leukemia
Blood 1986 Jan;68246A
-
Chromosome polymorphisms of 1, 9, 16 and Y in four major ethnic groups - a large study
Am J Hum Genet 1984 Jan;36975
-
Non-random chromosome breakpoints in amniotic fluid translocation pseudomosaicism
Am J Hum Genet 1984 Jan;36865
-
Anencephaly in a 13q- syndrome
Teratology 1983 Jan;2774A
-
Cell growth and chromosome abnormalities in amniotic fluid cell cultures grown in Chang-C media and RPMI-1640 media
Birth Defects: Original Article Series 1983 Jan;
-
Chromosome 12 deletion: further evidence for association of a syndrome with deletion of band 13q32
Birth Defects: Original Article Series 19 1983 Jan;5174-175
-
Supernumerary marker chromosomes - a rather common problem in prenatal diagnosis
Am J Med Genet 1983 Jan;35125A
-
The Centralized Prenatal Diagnosis Laboratory of New York City - The experience of the first two operational years and 2000 successful cases
Am J Hum Genet 1981 Jan;3371A
-
The establishment of the Centralized Prenatal Diagnosis Laboratory of New York City: Prospect and Experience
Am J Hum Genet 1979 Jan;3174A
-
Reversion of the galactosemia trait in SV-40 transformed human fibroblasts
Ped Res 1978 Jan;12509
-
Spontaneous reversion in human galactosemic cells
Am J Hum Genet 1978 Jan;30130A
-
Specific chromosome aberrations in senescent human embryo fibroblasts
Heredity 1976 Jan;37145-146
Conference Papers
-
Summary of the ISPD Preconference Day, June 3, 2012, Miami Beach.
Prenatal diagnosis 2013 Jan;33(1):1-5
-
First-trimester nuchal translucency cutoffs to detect second trimester cardiac abnormalities in euploid fetuses
2011 Jan;
-
Down syndrome screening in the first and/or second trimester: model predicted performance using meta-analysis parameters.
Seminars in perinatology 2005 Aug;29(4):252-7
-
Contingent strategies for Down?s syndrome screening
2005 Jan;
-
Down syndrome births in the United States from 1989 to 2001.
American journal of obstetrics and gynecology 2004 Sep;191(3):1044-8
-
Antenatal Down syndrome screening in the United States in 2001: a survey of maternal-fetal medicine specialists.
American journal of obstetrics and gynecology 2002 Nov;187(5):1230-4
-
Down syndrome screening policy and economic evaluation, proceedings of an international conference
Down syndrome screening policy and economic evaluation, proceedings of an international conference 1999 Jan;
-
Developing a role for genetics within a cancer program.
Annals of the New York Academy of Sciences 1995 Sep;768258-60
-
Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 1991 Jan;24(1):308-16
Editorials
-
Genome-wide non-invasive prenatal screening for all cytogenetically visible imbalances.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2018 Jan;51429-433
-
Prenatal technologies and the sex ratio.
Genetics in medicine : official journal of the American College of Medical Genetics 2013 Oct;16(6):433-4
-
Noninvasive prenatal testing for fetal aneuploidy: clinical assessment and a plea for restraint.
Obstetrics and gynecology 2013 Apr;121(4):847-50
Letters
-
Response to Sistermans et al.
Genetics in medicine : official journal of the American College of Medical Genetics 2019 Nov;
-
Response to Toutain et al.
Genetics in medicine : official journal of the American College of Medical Genetics 2019 Oct;
-
Cell-free DNA vs sequential screening for the detection of fetal chromosomal abnormalities.
American journal of obstetrics and gynecology 2016 Apr;215252-3
-
Positive predictive values and false-positive results in noninvasive prenatal screening.
American journal of obstetrics and gynecology 2015 Jun;213(4):595-6
-
Reply: To PMID 25111587.
American journal of obstetrics and gynecology 2015 May;213(2):253-4
-
Response to "On gestational weeks and maths".
Prenatal diagnosis 2013 Dec;33(12):1218-9
-
Prenatal counseling and the detection of copy-number variants.
Genetics in medicine : official journal of the American College of Medical Genetics 2013 Apr;15(4):316-7
-
Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing.
Obstetrics and gynecology 2012 Jun;119(6):1270; author reply 1270-1
-
Reply
Ultrasound Obstet Gynecol 2012 Jan;40(4):485-6
-
Anomalous Marker Values…and Anomalous Risk Calculation
Prenatal Screening Pespectives 2011 Jan;168
-
Crown Rump Length and Gestatoional Age
Prenatal Screening Pespectives 2011 Jan;1638
-
Free Fetal DNA; Recent Developments
Prenatal Screening Pespectives 2011 Jan;1616
-
Mendelian Disorders: Univesal Carrier Testing
Prenatal Screening Pespectives 2011 Jan;164
-
Position Statement
Prenatal Screening Pespectives 2011 Jan;1626
-
Prenatal Screening for Down Syndrome: USA and UK
Prenatal Screening Pespectives 2011 Jan;165
-
Serum Tests Quality Control
Prenatal Screening Pespectives 2011 Jan;1630-31
-
US Professional Guidelines
Prenatal Screening Pespectives 2011 Jan;169
-
Reply
American Journal of Obstetrics and Gynecology 2010 Jan;202(3):
-
Carrier Screening
Prenatal Screening Perspectives 2009 Jan;1523
-
Down syndrome screening in the United States in 2001 and 2007: A survey of Maternal-Fetal Medicine specialists
Am J Obstet Gynecol 2009 Jan;
-
Prenatal Screening Pespectives
Prenatal Screening Perspectives 2009 Jan;1510-11
-
Quality NT Measurement
Prenatal Screening Perspectives 2009 Jan;1535
-
Second Trimester Ultrasound Efficacy
Prenatal Screening Perspectives 2009 Jan;1514-15
-
Second trimester prenatal ultrasound and screening for Down syndrome.
Prenatal diagnosis 2007 Sep;27(9):884
-
ACOG Bulletin-Counter Opinion
Down’s Screening News 2007 Jan;14(1):13-14
-
Comparative Genomic Hybridization
Down’s Screening News 2007 Jan;14(1):30
-
Invasive Prenatal Diagnosis
Down’s Screening News 2007 Jan;14(1):25
-
Lost and Found; Whole Sets of Chromosomes
Down’s Screening News 2007 Jan;14(2):31
-
Nasal bone length; second trimester results
Down’s Screening News 2007 Jan;14(1):27
-
Sequential Screening
Down’s Screening News 2007 Jan;14(2):21
-
Smith-Lemli-Opitz Syndrome
Down’s Screening News 2007 Jan;14(2):9
-
CT ratios: parameter estimates are inconsistent with SURUSS publications?
Prenatal diagnosis 2006 Oct;26(10):991-2; author reply 994
-
A matter of opinion or evidence! [2]
Prenatal Diagnosis 2006 Jan;26(12):1184
-
Book Review: Preventive Genetics
Down’s Screening News 2006 Jan;13(2):35
-
Rapid Aneuploidy Testing
Down’s Screening News 2006 Jan;13(2):35
-
Recurrence risks
Down’s Screening News 2005 Jan;12(2):4-5
-
Which contingent sequential screening protocol?
Prenat Diagn 2005 Jan;25520-521
-
Chromosome imbalances and viability
Down’s Screening News 2004 Jan;11(2):38
-
S100B protein and amniotic fluid.
Clinica chimica acta; international journal of clinical chemistry 2003 Sep;335(1-2):165-6; author reply 167
-
Incorporation of inhibin-A in second-trimester screening for Down syndrome.
Obstetrics and gynecology 2003 Aug;102(2):413; author reply 413-4
-
HCG and chromosome abnormalities
Down’s Screening News 2003 Jan;10(1):22
-
Improved antenatal screening for Down syndrome
Lancet 2003 Jan;361794-795
-
Models’ vital statistics….. and their extremities
Down’s Screening News 2003 Jan;10(2):36
-
Correct composite risks
Down’s Screening News 2002 Jan;926
-
Singleton versus duplicate assays in maternal serum screening.
Prenatal diagnosis 2001 Oct;21(10):894-6
-
Evaluation of analytical precision in maternal serum screening for Down syndrome
Ann Clin Biochem 2001 Jan;38123
-
Second trimester ultrasound to detect fetuses with Down syndrome
JAMA 2001 Jan;2852857
-
USA age trends 1974-99
Down’s Screening News 2001 Jan;8(1):29
-
Survival of Down syndrome in utero.
Prenatal diagnosis 2000 May;20(5):432-3
-
Inhibin-A
Down’s Screening News 2000 Jan;7(1):20
-
Revised guidelines for the diagnosis of mosaicism in amniocytes.
Prenatal diagnosis 1999 Nov;19(11):1081-82
-
Should health screening be private?
Down’s Screening News 1999 Jan;6(2):3
-
Trisomy 16 mosaicism
Trisomy 16 mosaicism 1999 Jan;6(2):20-21
-
Down syndrome and open neural tube defect screen-positive pregnancies: premature delivery and premature placental karyotyping.
Prenatal diagnosis 1997 Mar;17(3):282-4
-
Trisomy 16 mosaicism: reply to Kalousek
Am J Med Genet 1994 Jan;52116
-
A rapid (but wrong) prenatal diagnosis.
The New England journal of medicine 1992 Jun;326(24):1638-40
-
Bcr-abl breakpoint and prognosis in chronic myeloid leukemia
Blood 1992 Jan;792500
-
Relationship between M-bcr breakpoint position in blast crisis and length of chronic phase in CML
Blood 1992 Jan;793097-3098
-
bcr breakpoint and prognosis of chronic phase chronic myeloid leukemia.
Blood 1990 Dec;76(12):2637-9
-
Dual genotype in cutaneous T cell lymphoma
J Investig Dermat 1988 Jan;91192
-
Fetal blood sampling in the investigation of chromosome mosaicism in amniotic fluid cell culture
Lancet 1988 Jan;322(8605):284
-
Chromosome translocation in fibroblast cultures derived from patients with Werner’s syndrome
Am J Hum Genet 1985 Jan;37(1):221-223
-
Maternal cell contamination mooted by amniocyte clones: Reply to Bixenman, et al
Am J Med Genet 1984 Jan;17(4):851-852
-
Trisomy 20 syndrome in man
Lancet 1976 Jan;1541
Notes
-
Improved antenatal screening for Down's syndrome.
Lancet (London, England) 2003 Mar;361(9360):794-5
Other
-
Aneuploidy screening: a position statement from the scientific committee of the international prenatal screening group
Prenatal Screening Perspectives 2009 Jan;1543-45
-
Cytogeneticists' stories around the ethics and social consequences of their work: a New Zealand case study.
New Zealand bioethics journal 2004 Jun;5(2):13-24
-
Down syndrome screening: a position statement from the scientific committee of the international Down syndrome screening group
2004 Jan;
Reviews
-
Expanding non-invasive prenatal testing beyond chromosomes 21, 18, 13, X and Y.
Clinical genetics 2016 Jun;90477-485
-
Posttest risk calculation following positive noninvasive prenatal screening using cell-free DNA in maternal plasma.
American journal of obstetrics and gynecology 2016 Jun;214(6):676.e1-7
-
Cell-free DNA screening for fetal aneuploidy as a clinical service.
Clinical biochemistry 2015 Feb;48(15):932-41
-
Non-invasive prenatal testing for aneuploidy: current status and future prospects.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2013 Jul;42(1):15-33
-
The role of second-trimester serum screening in the post-first-trimester screening era.
Clinics in laboratory medicine 2010 Sep;30(3):667-76
-
Trends in the use of second trimester maternal serum screening from 1991 to 2003.
Genetics in medicine : official journal of the American College of Medical Genetics 2005 Jan;7(5):328-31
-
Changes in the utilization of prenatal diagnosis.
Obstetrics and gynecology 2004 Jun;103(6):1255-60
-
Preliminary estimate for the second-trimester maternal serum screening detection rate of the 45,X karyotype using alpha-fetoprotein, unconjugated estriol and human chorionic gonadotropin.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2004 Mar;15(3):160-6
-
Maternal Serum Screening for Down Syndrome, Trisomy 18, and Other Fetal Chromosome Abnormalities
Journal of Clinical Ligand Assay 2003 Jan;26(3):129-136
-
Prenatal genetic diagnosis of Down's syndrome.
Expert review of molecular diagnostics 2002 Nov;2(6):605-15
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Advances in prenatal screening for Down syndrome: II first trimester testing, integrated testing, and future directions.
Clinica chimica acta; international journal of clinical chemistry 2002 Oct;324(1-2):1-11
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Advances in prenatal screening for Down syndrome: I. general principles and second trimester testing.
Clinica chimica acta; international journal of clinical chemistry 2002 Sep;323(1-2):1-16
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Trisomy 16 and trisomy 16 Mosaicism: a review.
American journal of medical genetics 1998 Sep;79(2):121-33
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Title or Abstract | Type | Sponsor/Event | Date/Year | Location |
---|---|---|---|---|
International Society for Prenatal Diagnosis, Pre-conference Course. introducing cf-DNA screening into routine prenatal care. | Lecture | International Society for Prental Diagnosis | 2015 | Wahington, DC |
International Society for Prenatal Diagnosis Debate. NIPT should routinely include microdeletions/duplications | Other | International Society for Prenatal Diagnosis | 2015 | Washington, DC |
Reproductive Genetic Diagnostics. Expanded Carrier Screening for Monogenic Disorders. | Lecture | Cambridge Healthtech institute | 2015 | Boston, MA |
Japanese Society of Obstetrics and Gynecology. Non-invasive prenatal testing for chromosome abnormalities: patient counseling and test interpretation | Lecture | Japanese Society of Obstetrics and Gynecology | 2015 | Yokohama, Japan |
Prenatal Molecular Diagnostics, Europe Non-invasive detection of microdeletions | Lecture | 2014 | Lisbon, Portugal | |
European Association of Perinatal Medicine, XXIV Perinatal Medicine Congress. Non-invasive detection of microdeletions | Lecture | 2014 | Florence, Italy | |
XV Corso Resuidenziale di Genetica Medica, Chieti, Italy. Non-invasive Prenatal Diagnosis | Plenary Lecture | 2014 | Chieti, Italy | |
International Society for Prenatal Diagnosis Pre-conference Course Expanded Carrier Screening | Lecture | 2014 | Brisbane, Australia | |
International Society for Prenatal Diagnosis Conference Debate: "Pre-conception expanded carrier screening should replace all current prenatal screening for specific single gene disorders" | Other | 2014 | Brisbane, Australia | |
12th Biennial Conference of the Indian Society for Prenatal Diagnosis and Therapy Cell-free fetal DNA | Plenary Lecture | 2014 | ||
American Congress of Obstetricians and Gynecologists, 2014 Annual District II Meeting Clinical and counseling issues with NIPT | Lecture | 2014 | New York, NY | |
The future of carrier screening and complexemerging ethical challenges | Talk | Int. Soc Prenatal Diagn, Screening SIG | 2013 | Lisbon, Portugal |
Cell free DNA testing in maternal blood | Panel Discussion | 12th World Congress n Fetal Med, Fetal Medicine Foundation | 2013 | Marbella, Spain |
Non-invasive aneuploidy testing using cfDNA: current status and future prospects | Lecture | European Cytogenetics Association, 9th Conference | 2013 | Dublin, Ireland |
Non-invasive prenatal testing | Talk | Genetics and Obstetrics Departments, Baystate Medical Center | 2012 | Baystate Medical Center, Springfield, MA |
Non-invasive prenatal diagnosis | Talk | University of CT Department of Allied Health Sciences | 2012 | Storrs, CT |
Prenatal Screening and Diagnosis | Lecture | IX Corso Resuidenziale di Genetica Medica, Chieti, Italy. Non-invasive Pr | 2012 | Chieti, Italy |
Use of Free Fetal Nucleic Acids in Maternal Plasma for Prenatal Diagnosis | Lecture | American Society for Clinical Pathology | 2012 | Webinar |
International Society for Prenatal Diagnosis, Prenatal Screening Special Interest Group. Prediction of adverse OB events due to abnormal placentation | Panel Discussion | International Society for Prenatal Diagnosis | 2012 | Miami, Floida |
International Society for Prenatal Diagnosis, Prenatal Screening Special Interest Group. Introduction to Prenatal Screening: Statistical and Quality Control Issues. | Talk | International Society for Prenatal Diagnosis | 2012 | Miami, Floida |
Non-invasive prenatal testing | Talk | Fetal Medicine Foundation/ International Society for Prenatal Diagnosis | 2012 | Kos, Greece |
Methods in invasive prenatal diagnosis | Fetal Medicine Foundation/ International Society for Prenatal Diagnosis | 2012 | Kos, Greece | |
Non-invasive prenatal testing | Talk | Unicorn Perinatal Lecture Series | 2012 | Regional hospitals, CT |
Invasive Prenatal Diagnosis | Lecture | 2nd Central-Eastern European Symposium on Free Nucleic Acids | 2012 | Olomouc, Czech Republic |
Overview of NIPT methods for aneuploidy | Lecture | 2nd Central-Eastern European Symposium on Free Nucleic Acids | 2012 | Olomouc, Czech Republic |
Limitations to NIPT for aneuploidy | Lecture | 2nd Central-Eastern European Symposium on Free Nucleic Acids | 2012 | Olomouc, Czech Republic |
Non-informative results and quality assurance | Lecture | 2nd Central-Eastern European Symposium on Free Nucleic Acids | 2012 | Olomouc, Czech Republic |
Implementation problems | Panel Discussion | 2nd Central-Eastern European Symposium on Free Nucleic Acids | 2012 | 2nd Central-Eastern European Symposium on Free Nucleic Acids |
Non-invasive prenatal diagnosis. | Talk | Eighth European Cytogenetics Conference | 2011 | Porto, Portugal |
Grand Rounds: Prenatal Screening | Talk | Beth Israel Deaconess Medical Center, Boston | 2011 | Boston, MA |
Gender selection in the United States | Talk | Ninth International Congress, International Prenatal Screening Group | 2011 | Barcelona |
XIII Corso Resuidenziale di Genetica Medica, Chieti, Italy. Non-invasive Prenatal Diagnosis | Talk | University of Chieti | 2010 | |
International Society for Prenatal Diagnosis. Prenatal Screening Special Interest Group Workshop, Chair. | Panel Discussion | International Society for Prenatal Diagnosis | 2010 | |
International Society for Prenatal Diagnosis. Prenatal Screening Special Interest Group Presentation. Standards and Guidelines for Laboratories. | Talk | International Society for Prenatal Diagnosis | 2010 | |
International Prenatal Screening Group Meeting. Barcelona, Workshop Chair. | Panel Discussion | International Prenatal Screening Group | 2010 | |
International Prenatal Screening Group Meeting. Barcelona, . Laboratory Quality Control and Quality Assurance. | Talk | International Prenatal Screening Group | 2010 | |
Second trimester Down syndrome screening: the potential efficacy of sequential maternal serum testing and the “genetic sonogram” | Talk | International Down Syndrome Screening Group, 8th International Congress | 2009 | Vancouver, Canada |
Changes in Down syndrome and trisomy 18 risks in women receiving sequential prenatal screening | Talk | Soc Maternal Fetal Med | 2007 | |
The acceptability of sequential first and second trimester screening for fetal aneuploidy | Talk | Soc Maternal Fetal Med | 2007 | |
Importance of confirming BCR/ABL fusion in the diagnosis of chronic myeloid leukemia | Talk | Am Soc Hum Genet 54th Annual Meeting | 2004 | |
Recurrent breakpoints in balanced autosomal translocations in man | Talk | Am Soc Hum Genet 54th Annual Meeting | 2004 | |
Second trimester maternal serum screening of 45,X pregnancies | Talk | Sixth International Down Syndrome Screening Conference | 2003 | London, England |
Concurrent second trimester biochemical and ultrasound screening for Down syndrome | Talk | Sixth International Down Syndrome Screening Conference | 2003 | London, England |
Preliminary estimate for the detection rate of 45,X pregnancies using the second trimester maternal serum triple test | Talk | Am Soc Human Genet | 2002 | |
Second trimester screening for Down syndrome preferentially identifies affected pregnancies that are complicated by fetal hydrops | Talk | Am Soc Human Genet | 2001 | |
Abnormal maternal serum inhibin-A levels in trisomy 16 mosaic pregnancies | Talk | Am Soc Hum Genet | 1999 | |
Economic evaluation of protocols in medical screening: Prenatal Down syndrome detection as an informative model | Talk | Third International Conference: Strategic Issues in Health Care Management | 1998 | |
The predictive value of the triple screening test for the phenotype of Down syndrome | Talk | Am Soc Hum Genet | 1998 | |
A comparison of the fixed cut-off and patient-specific risk protocols in the maternal serum screening for trisomy 18 | Talk | Am Soc Hum Genet | 1998 | |
Unconjugated estriol and human chorionic gonadotropin levels in pregnancies affected with neural tube defects | Talk | Am Soc Hum Genet | 1997 | |
An association between trisomy 16 (and other fetal aneuploidy) in women with grossly elevated second trimester maternal serum human chorionic gonadotropin (MSHCG) | Talk | Am Soc Hum Genet | 1995 | |
A comparison of high resolution chromosome banding and fluorescence in-situ hybridization (FISH) for the diagnosis of Prader-Willi syndrome and Angelman syndrome | Talk | Am College Med Genet Meeting | 1994 | |
Increased frequency of monosomy-X cells detectable by fluorescence in-situ hybridization (FISH) in women with premature ovarian failure (POF) | Talk | Am College Med Genet Meeting | 1994 | |
Maternal serum screening for Down syndrome (DS) may also preferentially identify some fetuses with supernumerary “marker” chromosomes (SMCs) | Talk | Am Soc Hum Genet | 1993 | |
Long-term evaluation of the leukemic clone in CML patients by densitometry of Southern blot autoradiographs | Talk | Am Soc Hum Genet | 1991 | |
Cytogenetic abnormalities in human bone marrow fibroblasts | Talk | Am Soc Hum Genet | 1990 | |
Densitometric analysis of Southern blot autoradiographs to quantify the proportion of leukemic cells with CML | Talk | Int Soc Hematol 23rd Congress | 1990 | |
Fine mapping of breakpoints in CML and its value to predict response to interferon therapy | Talk | Int Soc Hematol 23rd Congress | 1990 | |
Multiple restriction enzyme digests are required to rule out leukemia | Talk | Am Soc Hum Genet | 1989 | |
Limited heterogeneity of chromosome 22 breakpoints in chronic myeloid leukemia (CML) | Talk | Am Soc Hum Genet | 1988 | |
Use of immunoglobulin gene rearrangements to stage disease severity in chronic lymphocytic leukemia | Talk | Forth International Conference On Human Tumor Markers | 1987 | |
Rearrangement of the breakpoint cluster region (bcr) of chromosome 22 as a diagnostic marker for chronic myeloid leukemia | Talk | Forth International Conference On Human Tumor Markers | 1987 | |
Breakpoint cluster region (bcr) rearrangement in chronic myeloid leukemia (CML) with apparently normal or t(9;22) variant karyotypes | Talk | Am Soc Hum Genet | 1987 | |
Chromosome 22 breakpoint location as a predictive factor for early blast crisis in chronic myeloid leukemia (CML) | Talk | Am Soc Hematol | 1987 | |
Utility of molecular genetic analysis of bcr rearrangement in the diagnosis of chronic myelogenous leukemia | Talk | Am Soc Hum Genet | 1986 | |
Supernumerary marker chromosomes - a rather common problem in prenatal diagnosis | Talk | Am Soc Hum Genet | 1983 | |
Cell growth and chromosome abnormalities in amniotic fluid cell cultures grown in Chang-C media and RPMI-1640 media | Talk | March of Dimes Clinical Genetics Conference | 1983 | |
Maternal cell contamination of amniotic fluid cultures -results of a nationwide survey | Talk | Am Soc Hum Genet | 1982 | |
Reversion of the galactosemia trait in SV-40 transformed human fibroblasts | Talk | Society for Pediatric Research | 1978 | |
Specific chromosome aberrations in senescent human embryo fibroblasts | Talk | British Genetical Society | 1976 |