Human molecular cytogenetics: from cells to nucleotides

Long-term follow-up of four patients with langer-giedion syndrome: Clinical course and complications

(2013) Albert Schinzel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability

(2013) Emma Palmer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Experimental Designs for Array Comparative Genomic Hybridization Technology

(2013) S.K. McDonnell et al.   CYTOGENETIC AND GENOME RESEARCH

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

(2013) Joanna Wiszniewska et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations

(2013) Anneke T. Vulto-van Silfhout et al.   European Journal of Medical Genetics

Diminished effect of maternal age on implantation after preimplantation genetic diagnosis with array comparative genomic hybridization

(2013) Gary L. Harton et al.   FERTILITY AND STERILITY

NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits

(2013) P. Dittwald et al.   GENOME RESEARCH

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles

(2013) P. M. Boone et al.   GENOME RESEARCH

The promise of whole-exome sequencing in medical genetics

(2013) Bahareh Rabbani et al.   JOURNAL OF HUMAN GENETICS

CNVs conferring risk of autism or schizophrenia affect cognition in controls

(2013) Hreinn Stefansson et al.   NATURE

Cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH

(2013) Jillian Nicholl et al.   PATHOLOGY

Whole-Exome/Genome Sequencing and Genomics

(2013) W. W. Grody et al.   PEDIATRICS

Implementation of High Resolution Whole Genome Array CGH in the Prenatal Clinical Setting: Advantages, Challenges, and Review of the Literature

(2013) Paola Evangelidou et al.   Biomed Research International

The Promise and Challenges of Next-Generation Genome Sequencing for Clinical Care

(2013) Katherine A. Johansen Taber et al.   JAMA Internal Medicine

Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects

(2012) James R. Priest et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Replication stress and mechanisms of CNV formation

(2012) Martin F Arlt et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today’s genomic array era?

(2012) Weimin Bi et al.   GENETICS IN MEDICINE

Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki–Lupski duplication syndrome

(2012) Zhe Sun et al.   HUMAN MOLECULAR GENETICS

The introduction of arrays in prenatal diagnosis: A special challenge

(2012) Annalisa Vetro et al.   HUMAN MUTATION

Genome-wide arrays in routine diagnostics of hematological malignancies

(2012) Annet Simons et al.   HUMAN MUTATION

Genome-wide arrays: Quality criteria and platforms to be used in routine diagnostics

(2012) Joris R. Vermeesch et al.   HUMAN MUTATION

A New Multicolor Fluorescence In Situ Hybridization Probe Set Directed Against Human Heterochromatin

(2012) Maria Bucksch et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

Microdeletion and Microduplication Syndromes

(2012) Anja Weise et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

(2012) Santhosh Girirajan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genomic microarrays: a technology overview

(2012) Paul D. Brady et al.   PRENATAL DIAGNOSIS

Human Copy Number Variation and Complex Genetic Disease

(2011) Santhosh Girirajan et al.   Annual Review of Genetics

Towards an evidence-based process for the clinical interpretation of copy number variation

(2011) ER Riggs et al.   CLINICAL GENETICS

The Evolving Picture of Microdeletion/Microduplication Syndromes in the Age of Microarray Analysis: Variable Expressivity and Genomic Complexity

(2011) Kristen L. Deak et al.   CLINICS IN LABORATORY MEDICINE

Whole exome and whole genome sequencing

(2011) David Bick et al.   CURRENT OPINION IN PEDIATRICS

Interpretation of Array Comparative Genome Hybridization Data: A Major Challenge

(2011) A.C.J. Gijsbers et al.   CYTOGENETIC AND GENOME RESEARCH

Array CGH in Human Leukemia: From Somatics to Genetics

(2011) L.T. van der Veken et al.   CYTOGENETIC AND GENOME RESEARCH

From Karyotyping to Array-CGH in Prenatal Diagnosis

(2011) K.D. Lichtenbelt et al.   CYTOGENETIC AND GENOME RESEARCH

Genome Arrays for the Detection of Copy Number Variations in Idiopathic Mental Retardation, Idiopathic Generalized Epilepsy and Neuropsychiatric Disorders: Lessons for Diagnostic Workflow and Research

(2011) R. Hochstenbach et al.   CYTOGENETIC AND GENOME RESEARCH

Comparison of Constitutional and Replication Stress-Induced Genome Structural Variation by SNP Array and Mate-Pair Sequencing

(2011) M. F. Arlt et al.   GENETICS

Characterising chromosome rearrangements: recent technical advances in molecular cytogenetics

(2011) S Le Scouarnec et al.   HEREDITY

Rapid High-Resolution Mapping of Balanced Chromosomal Rearrangements on Tiling CGH Arrays

(2011) Harvey A. Greisman et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

MutaDATABASE: a centralized and standardized DNA variation database

(2011) Sherri Bale et al.   NATURE BIOTECHNOLOGY

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

(2011) Stephan J. Sanders et al.   NEURON

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

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Early prenatal diagnosis; A study of biopsy techniques and cell culturing from extraembryonic membranes

(2010) Niels Hahnemann   CLINICAL GENETICS

THE EFFECT OF COLCHICINE ON ROOT MITOSES IN ALLIUM

(2010) ALBERT LEVAN   HEREDITAS

Phenotypic variability and genetic susceptibility to genomic disorders

(2010) S. Girirajan et al.   HUMAN MOLECULAR GENETICS

Array Comparative Genomic Hybridization Detects Chromosomal Abnormalities in Hematological Cancers That Are Not Detected by Conventional Cytogenetics

(2010) Lina Shao et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

(2010)   NATURE

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis

(2010) S. C. Hillman et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Human interphase chromosomes: a review of available molecular cytogenetic technologies

(2010) Svetlana G Vorsanova et al.   Molecular Cytogenetics

Mobile elements create structural variation: Analysis of a complete human genome

(2009) J. Xing et al.   GENOME RESEARCH

Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

ACOG Committee Opinion No. 446: Array Comparative Genomic Hybridization in Prenatal Diagnosis

(2009)   OBSTETRICS AND GYNECOLOGY

Increased nuchal translucency with normal karyotype: a follow-up study of 100 cases supplemented with CGH and MLPA analyses

(2009) K. V. Schou et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

The Fine-Scale and Complex Architecture of Human Copy-Number Variation

(2008) George H. Perry et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CGH microarrays and cancer

(2008) Anne Kallioniemi   CURRENT OPINION IN BIOTECHNOLOGY

Ein neuer Schnelltest (FISH) zur pränatalen Diagnostik der häufigsten Chromosomenaberrationen - welche Bedeutung hat er für die Praxis?

(2008) B. Eiben et al.   DEUTSCHE MEDIZINISCHE WOCHENSCHRIFT