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Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

Nature genetics, 2007-07, Vol.39 (7), p.S48-S54

2007

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Genome-wide analysis reveals the unique stem cell identity of human amniocytes

PloS one, 2013-01, Vol.8 (1), p.e53372-e53372

2013

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Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH

Genes chromosomes & cancer, 2005-11, Vol.44 (3), p.305-319

2005

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Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations

European journal of human genetics : EJHG, 2008-01, Vol.16 (1), p.45-52

2008

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Progression of metastatic human prostate cancer to androgen independence in immunodeficient SCID mice

Nature medicine, 1997-04, Vol.3 (4), p.402-408

1997

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Immortalization of normal human mammary epithelial cells in two steps by direct targeting of senescence barriers does not require gross genomic alterations

Cell cycle (Georgetown, Tex.), 2014-11, Vol.13 (21), p.3423-3435

2014

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Mutation of the MXI1 gene in prostate cancer

Nature genetics, 1995-03, Vol.9 (3), p.249-255

1995

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Rapid aneusomy detection in products of conception using the KaryoLite™ BACs-on-Beads™ assay

Prenatal diagnosis, 2013-01, Vol.33 (1), p.25-31

2013

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Array comparative genomic hybridization for genetic evaluation of fetal loss between 10 and 20 weeks of gestation

Obstetrics and gynecology (New York. 1953), 2009-11, Vol.114 (5), p.1093-1102

2009

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Microarray analysis for constitutional cytogenetic abnormalities

Genetics in medicine, 2007-09, Vol.9 (9), p.654-662

2007

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Paternal uniparental disomy of chromosome 14: Confirmation of a clinically‐recognizable phenotype

American journal of medical genetics, 2004-09, Vol.130A (1), p.88-91

2004

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Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories

Genetics in medicine, 2009-12, Vol.11 (12), p.866-873

2009

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How physicians use array comparative genomic hybridization results to guide patient management in children with developmental delay

Genetics in medicine, 2008-03, Vol.10 (3), p.181-186

2008

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Natural history of Wolf-Hirschhorn syndrome: experience with 15 cases

Pediatrics (Evanston), 1999-04, Vol.103 (4 Pt 1), p.830-836

1999

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Cytogenomic aberrations associated with prostate cancer

Cancer genetics, 2011-02, Vol.204 (2), p.57-67

2011

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Co‐occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: Modification of the Wolf–Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith–Wiedemann or Russell–Silver phenotype

American journal of medical genetics. Part A, 2008-10, Vol.146A (20), p.2691-2697

2008

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Genomic Medicine in Prenatal Diagnosis

Clinical obstetrics and gynecology, 2008-03, Vol.51 (1), p.62-73

2008

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College of American Pathologists/American College of Medical Genetics proficiency testing for constitutional cytogenomic microarray analysis

Genetics in medicine, 2011-09, Vol.13 (9), p.765-769

2011

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Prostate cancer risk and IRS1, IRS2, IGF1, and INS polymorphisms: Strong association of IRS1 G972R variant and cancer risk

The Prostate, 2005-07, Vol.64 (2), p.168-174

2005

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Her-2/neu expression in osteosarcoma increases risk of lung metastasis and can be associated with gene amplification

Journal of pediatric hematology/oncology, 2003-01, Vol.25 (1), p.27-32

2003

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Cytogenetic heteromorphisms: survey results and reporting practices of giemsa-band regions that we have pondered for years

Archives of pathology & laboratory medicine (1976), 2006-07, Vol.130 (7), p.947-949

2006

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Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

Prognostic value of an RNA expression signature derived from cell cycle proliferation genes in patients with prostate cancer: a retrospective study

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

Genome-wide analysis reveals the unique stem cell identity of human amniocytes

Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH

Comprehensive analysis of Wolf-Hirschhorn syndrome using array CGH indicates a high prevalence of translocations

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

Progression of metastatic human prostate cancer to androgen independence in immunodeficient SCID mice

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

Immortalization of normal human mammary epithelial cells in two steps by direct targeting of senescence barriers does not require gross genomic alterations

Mutation of the MXI1 gene in prostate cancer

Rapid aneusomy detection in products of conception using the KaryoLite™ BACs-on-Beads™ assay

Array comparative genomic hybridization for genetic evaluation of fetal loss between 10 and 20 weeks of gestation

Microarray analysis for constitutional cytogenetic abnormalities

Paternal uniparental disomy of chromosome 14: Confirmation of a clinically‐recognizable phenotype

Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories

How physicians use array comparative genomic hybridization results to guide patient management in children with developmental delay

Natural history of Wolf-Hirschhorn syndrome: experience with 15 cases

Cytogenomic aberrations associated with prostate cancer

Co‐occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: Modification of the Wolf–Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith–Wiedemann or Russell–Silver phenotype

Genomic Medicine in Prenatal Diagnosis

College of American Pathologists/American College of Medical Genetics proficiency testing for constitutional cytogenomic microarray analysis

Prostate cancer risk and IRS1, IRS2, IGF1, and INS polymorphisms: Strong association of IRS1 G972R variant and cancer risk

Her-2/neu expression in osteosarcoma increases risk of lung metastasis and can be associated with gene amplification

Cytogenetic heteromorphisms: survey results and reporting practices of giemsa-band regions that we have pondered for years

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