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Prenatal Screening for Aneuploidy

The New England journal of medicine, 2009-06, Vol.360 (24), p.2556-2562

2009

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Explaining the Black-White Disparity in Preterm Birth: A Consensus Statement From a Multi-Disciplinary Scientific Work Group Convened by the March of Dimes

Frontiers in reproductive health, 2021-09, Vol.3, p.684207

2021

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Integration of microarray technology into prenatal diagnosis: counselling issues generated during the NICHD clinical trial

Prenatal diagnosis, 2012-04, Vol.32 (4), p.396-400

2012

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Screening for Down syndrome: changing practice of obstetricians

American journal of obstetrics and gynecology, 2009-04, Vol.200 (4), p.459.e1-459.e9

2009

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Fragile X syndrome: Diagnostic and carrier testing

Genetics in medicine, 2005-10, Vol.7 (8), p.584-587

2005

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Screening for fetal aneuploidy and neural tube defects

Genetics in medicine, 2009-11, Vol.11 (11), p.818-821

2009

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Obstetrics: Normal and Problem Pregnancies

Seventh edition, 2017

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Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

Genetics in medicine, 2004-09, Vol.6 (5), p.387-391

2004

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National Institutes of Health State-of-the-Science Conference Statement: Family History and Improving Health

Annals of internal medicine, 2009-12, Vol.151 (12), p.872

2009

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Thirty-Seven Candidate Genes for Polycystic Ovary Syndrome: Strongest Evidence for Linkage Is with Follistatin

Proceedings of the National Academy of Sciences - PNAS, 1999-07, Vol.96 (15), p.8573-8578

1999

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The prognostic significance of margin width for extremity and trunk sarcoma

Journal of surgical oncology, 2004-02, Vol.85 (2), p.68-76

2004

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Comparative PRKAR1A Genotype-Phenotype Analyses in Humans with Carney Complex and prkar1a Haploinsufficient Mice

Proceedings of the National Academy of Sciences - PNAS, 2004-09, Vol.101 (39), p.14222-14227

2004

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Evidence for a Genetic Basis for Hyperandrogenemia in Polycystic Ovary Syndrome

Proceedings of the National Academy of Sciences - PNAS, 1998-12, Vol.95 (25), p.14956-14960

1998

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Healing at Home: applying innovation principles to redesign and optimise postpartum care

BMJ innovations, 2022-01, Vol.8 (1), p.37-41

2022

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First trimester diagnosis and screening for fetal aneuploidy

Genetics in medicine, 2008-01, Vol.10 (1), p.73-75

2008

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Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome : genomic organization and deletion endpoint analysis

Human molecular genetics, 2000-03, Vol.9 (4), p.489-501

2000

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Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net

Genetics in medicine, 2001-01, Vol.3 (1), p.23-29

2001

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Frequency of 22q11 deletions in patients with conotruncal defects

Journal of the American College of Cardiology, 1998-08, Vol.32 (2), p.492-498

1998

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Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion

Human molecular genetics, 2004-02, Vol.13 (4), p.417-428

2004

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Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching

Journal of the American College of Cardiology, 2001-06, Vol.37 (8), p.2114-2119

2001

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Physicians' communication of Down syndrome screening test results: The influence of physician numeracy

Genetics in medicine, 2011-08, Vol.13 (8), p.744-749

2011

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Polycystic Ovary Syndrome in Adolescence

Annals of the New York Academy of Sciences, 2003-11, Vol.997 (1), p.49-55

DRISCOLL, DEBORAH A.

2003

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Expression of Wilms tumor gene (WT1) in epithelial ovarian cancer

Gynecologic oncology, 2006-04, Vol.101 (1), p.12-17

2006

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High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome

Human mutation, 2011-01, Vol.32 (1), p.91-97

2011

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Evaluation of Urinary Plasminogen Activator, Its Receptor, Matrix Metalloproteinase-9, and von Willebrand Factor in Pancreatic Cancer

Clinical cancer research, 2003-10, Vol.9 (13), p.4935-4943

2003

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Prenatal Screening for Aneuploidy

Explaining the Black-White Disparity in Preterm Birth: A Consensus Statement From a Multi-Disciplinary Scientific Work Group Convened by the March of Dimes

Integration of microarray technology into prenatal diagnosis: counselling issues generated during the NICHD clinical trial

Screening for Down syndrome: changing practice of obstetricians

Fragile X syndrome: Diagnostic and carrier testing

Screening for fetal aneuploidy and neural tube defects

Obstetrics: Normal and Problem Pregnancies

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

National Institutes of Health State-of-the-Science Conference Statement: Family History and Improving Health

Thirty-Seven Candidate Genes for Polycystic Ovary Syndrome: Strongest Evidence for Linkage Is with Follistatin

The prognostic significance of margin width for extremity and trunk sarcoma

Comparative PRKAR1A Genotype-Phenotype Analyses in Humans with Carney Complex and prkar1a Haploinsufficient Mice

Evidence for a Genetic Basis for Hyperandrogenemia in Polycystic Ovary Syndrome

Healing at Home: applying innovation principles to redesign and optimise postpartum care

First trimester diagnosis and screening for fetal aneuploidy

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome : genomic organization and deletion endpoint analysis

Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net

Frequency of 22q11 deletions in patients with conotruncal defects

Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion

Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching

Physicians' communication of Down syndrome screening test results: The influence of physician numeracy

Polycystic Ovary Syndrome in Adolescence

Expression of Wilms tumor gene (WT1) in epithelial ovarian cancer

High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome

Evaluation of Urinary Plasminogen Activator, Its Receptor, Matrix Metalloproteinase-9, and von Willebrand Factor in Pancreatic Cancer

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