Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach

Current knowledge of prenatal diagnosis of mosaic autosomal trisomy in amniocytes: karyotype/phenotype correlations

(2015) Robert Wallerstein et al.   PRENATAL DIAGNOSIS

Traditional karyotypingvscopy number variation sequencing for detection of chromosomal abnormalities associated with spontaneous miscarriage

(2015) S. Liu et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

A novel 11p13 microdeletion encompassing PAX6 in a Chinese Han family with aniridia, ptosis and mental retardation

(2015) Ping Hu et al.   Molecular Cytogenetics

Molecular and Cytogenetic Analysis in Stillbirth: Results from 481 Consecutive Cases

(2014) Ellika Sahlin et al.   FETAL DIAGNOSIS AND THERAPY

A Robust Approach for Blind Detection of Balanced Chromosomal Rearrangements with Whole-Genome Low-Coverage Sequencing

(2014) Zirui Dong et al.   HUMAN MUTATION

Copy Number Variation Sequencing for Comprehensive Diagnosis of Chromosome Disease Syndromes

(2014) Desheng Liang et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

PSCC: Sensitive and Reliable Population-Scale Copy Number Variation Detection Method Based on Low Coverage Sequencing

(2014) Xuchao Li et al.   PLoS One

Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort

(2014) Wilson Wai Chong et al.   Molecular Cytogenetics

The 22q11.2 Deletion Syndrome as a Window into Complex Neuropsychiatric Disorders Over the Lifespan

(2013) Rachel K. Jonas et al.   BIOLOGICAL PSYCHIATRY

Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives

(2013) Min Zhao et al.   BMC BIOINFORMATICS

A PARK2 polymorphism associated with delayed neuropsychological sequelae after carbon monoxide poisoning

(2013) Fei Liang et al.   BMC Medical Genetics

Gene Copy-Number Alterations: A Cost-Benefit Analysis

(2013) Yun-Chi Tang et al.   CELL

Comparative Studies of Copy Number Variation Detection Methods for Next-Generation Sequencing Technologies

(2013) Junbo Duan et al.   PLoS One

Rapid detection of aneuploidies on a benchtop sequencing platform

(2013) Weiwei Xie et al.   PRENATAL DIAGNOSIS

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

(2012)   NATURE

Karyotype versus Microarray Testing for Genetic Abnormalities after Stillbirth

(2012) Uma M. Reddy et al.   NEW ENGLAND JOURNAL OF MEDICINE

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

(2012) Ronald J. Wapner et al.   NEW ENGLAND JOURNAL OF MEDICINE

Improving detection of copy-number variation by simultaneous bias correction and read-depth segmentation

(2012) Jin P. Szatkiewicz et al.   NUCLEIC ACIDS RESEARCH

Informatics Enhanced SNP Microarray Analysis of 30 Miscarriage Samples Compared to Routine Cytogenetics

(2012) Ruth B. Lathi et al.   PLoS One

The detection of mosaicism by prenatal BoBs™

(2012) Yvonne K.Y. Cheng et al.   PRENATAL DIAGNOSIS

Application of a new molecular technique for the genetic evaluation of products of conception

(2012) Francesca R. Grati et al.   PRENATAL DIAGNOSIS

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

(2011) Hutton M Kearney et al.   GENETICS IN MEDICINE

Two-marker association tests yield new disease associations for coronary artery disease and hypertension

(2011) Thomas P. Slavin et al.   HUMAN GENETICS

Mapping copy number variation by population-scale genome sequencing

(2011) Ryan E. Mills et al.   NATURE

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

(2011) Dalila Pinto et al.   NATURE BIOTECHNOLOGY

Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype

(2011) T. Y. Leung et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

The Angelman Syndrome Protein Ube3A Regulates Synapse Development by Ubiquitinating Arc

(2010) Paul L. Greer et al.   CELL

Haplotype-Sharing Analysis Implicates Chromosome 7q36 Harboring DPP6 in Familial Idiopathic Ventricular Fibrillation

(2009) Marielle Alders et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SOAP2: an improved ultrafast tool for short read alignment

(2009) R. Li et al.   BIOINFORMATICS

Human genetic variation and its contribution to complex traits

(2009) Kelly A. Frazer et al.   NATURE REVIEWS GENETICS

Mapping short DNA sequencing reads and calling variants using mapping quality scores

(2008) H. Li et al.   GENOME RESEARCH

The diploid genome sequence of an Asian individual

(2008) Jun Wang et al.   NATURE

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

(2008) Andrew J Sharp et al.   NATURE GENETICS