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

American journal of human genetics, 2010-05, Vol.86 (5), p.749-764

2010

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Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay

Human genetics, 2011-10, Vol.130 (4), p.517-528

2011

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Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2017-08, Vol.19 (8), p.845-850

2017

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ADDENDUM: Section E9 of the American College of Medical Genetics Technical Standards and Guidelines: Fluorescence in situ hybridization

Genetics in medicine, 2019-10, Vol.21 (10), p.2405-2405

2019

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Section E9 of the American College of Medical Genetics technical standards and guidelines: Fluorescence in situ hybridization

Genetics in medicine, 2011-07, Vol.13 (7), p.667-675

2011

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O36: Moving on from cytogenetics: The evolution from squash preparations to next generation sequencing and the importance of microarray analysis

Genetics in Medicine Open, 2023, Vol.1 (1), p.100462, Article 100462

2023

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Formation of novel CENP-A domains on tandem repetitive DNA and across chromosome breakpoints on human chromosome 8q21 neocentromeres

Chromosoma, 2011-12, Vol.120 (6), p.621-632

2011

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Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH

American journal of medical genetics. Part A, 2011-10, Vol.155 (10), p.2508-2511

2011

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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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A 137‐kb deletion within the Potocki–Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia

American journal of medical genetics. Part A, 2013-01, Vol.161 (1), p.198-202

2013

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Ovotesticular Disorder of Sexual Development (True Hermaphroditism)

Urology (Ridgewood, N.J.), 2009-02, Vol.73 (2), p.293-296

2009

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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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Burkitt lymphoma arising in organ transplant recipients: a clinicopathologic study of five cases

The American journal of surgical pathology, 2003-06, Vol.27 (6), p.818-827

2003

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UPD detection using homozygosity profiling with a SNP genotyping microarray

American journal of medical genetics. Part A, 2011-04, Vol.155A (4), p.757-768

2011

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4. ETV6-ABL1 variant rearrangement described in a childhood ALL patient

Cancer genetics, 2021-04, Vol.252-253, p.S2-S2

2021

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49. Cryptic Triple Hit Lymphoma: What's hiding in those chromosomes? A chromosome, FISH and microarray story

Cancer genetics, 2021-04, Vol.252-253, p.S17-S17

2021

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35. Runs of homozygosity (ROH) reveal that segmental-UPD is associated with the repair of genomic imbalance

Cancer genetics, 2018-08, Vol.224-225, p.64-64

2018

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80: Chromosomal microarray analysis of over 45,000 prenatal patients: Significance and efficacy as a first tier diagnostic test

American journal of obstetrics and gynecology, 2018-01, Vol.218 (1), p.S58-S59

2018

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Multidisciplinary analysis of pediatric T-ALL: 9q34 gene fusions

Cancer genetics, 2019-02, Vol.231-232, p.1-13

2019

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Clinical and analytical performance of non-small cell lung cancer biomarkers

Journal of clinical oncology, 2013-05, Vol.31 (15_suppl), p.11070-11070

2013

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Utilization of a SNP Microarray for the Detection and Delineation of Chromosomal Changes In CLL Patients: the Efficacy of Implementing New Technology to An Old Question

Blood, 2010-11, Vol.116 (21), p.2763-2763

2010

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Camptodactyly and the 22q11.2 deletion syndrome

American journal of medical genetics. Part A, 2017-02, Vol.173 (2), p.515-518

2017

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X chromosome inactivation and micronuclei in normal and Turner individuals

Human genetics, 1997-10, Vol.100 (5-6), p.624-628

1997

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A Novel Look at MDS Patients: Utilization and Effectiveness of a SNP Microarray for the Detection of Both Copy Number and Copy Neutral Changes

Blood, 2010-11, Vol.116 (21), p.4846-4846

2010

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Visual diagnosis: monozygotic twins who have congenital heart disease and distinctive facial features

Pediatrics in review, 2002-10, Vol.23 (10), p.365-367

2002

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

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay

Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG)

ADDENDUM: Section E9 of the American College of Medical Genetics Technical Standards and Guidelines: Fluorescence in situ hybridization

Section E9 of the American College of Medical Genetics technical standards and guidelines: Fluorescence in situ hybridization

O36: Moving on from cytogenetics: The evolution from squash preparations to next generation sequencing and the importance of microarray analysis

Formation of novel CENP-A domains on tandem repetitive DNA and across chromosome breakpoints on human chromosome 8q21 neocentromeres

Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH

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

A 137‐kb deletion within the Potocki–Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia

Ovotesticular Disorder of Sexual Development (True Hermaphroditism)

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

Burkitt lymphoma arising in organ transplant recipients: a clinicopathologic study of five cases

UPD detection using homozygosity profiling with a SNP genotyping microarray

4. ETV6-ABL1 variant rearrangement described in a childhood ALL patient

49. Cryptic Triple Hit Lymphoma: What's hiding in those chromosomes? A chromosome, FISH and microarray story

35. Runs of homozygosity (ROH) reveal that segmental-UPD is associated with the repair of genomic imbalance

80: Chromosomal microarray analysis of over 45,000 prenatal patients: Significance and efficacy as a first tier diagnostic test

Multidisciplinary analysis of pediatric T-ALL: 9q34 gene fusions

Clinical and analytical performance of non-small cell lung cancer biomarkers

Utilization of a SNP Microarray for the Detection and Delineation of Chromosomal Changes In CLL Patients: the Efficacy of Implementing New Technology to An Old Question

Camptodactyly and the 22q11.2 deletion syndrome

X chromosome inactivation and micronuclei in normal and Turner individuals

A Novel Look at MDS Patients: Utilization and Effectiveness of a SNP Microarray for the Detection of Both Copy Number and Copy Neutral Changes

Visual diagnosis: monozygotic twins who have congenital heart disease and distinctive facial features

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