Trio-Based Low-Pass Genome Sequencing Reveals Characteristics and Significance of Rare Copy Number Variants in Prenatal Diagnosis

The role of chromosomal microarray and exome sequencing in prenatal diagnosis

(2021) Matthew Hoi Kin Chau et al.   CURRENT OPINION IN OBSTETRICS & GYNECOLOGY

Whole Genome Sequencing in the Evaluation of Fetal Structural Anomalies: A Parallel Test with Chromosomal Microarray Plus Whole Exome Sequencing

(2021) Jia Zhou et al.   Genes

Contribution of de novo and inherited rare CNVs to very preterm birth

(2020) Hilary S Wong et al.   JOURNAL OF MEDICAL GENETICS

Low-pass genome sequencing: a validated method in clinical cytogenetics

(2020) Matthew Hoi Kin Chau et al.   HUMAN GENETICS

A structural variation reference for medical and population genetics

(2020) Ryan L. Collins et al.   NATURE

Deciphering the complexity of simple chromosomal insertions by genome sequencing

(2020) Zirui Dong et al.   HUMAN GENETICS

Low-Pass Genome Sequencing

(2020) Alka Chaubey et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study

(2019) Slavé Petrovski et al.   LANCET

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

(2019) Jenny Lord et al.   LANCET

Characteristics and mode of inheritance of pathogenic copy number variants in prenatal diagnosis

(2019) Matthew Hoi Kin Chau et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Systematic analysis of copy‐number variations associated with early pregnancy loss

(2019) Yan Wang et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis

(2019) Huilin Wang et al.   GENETICS IN MEDICINE

Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency by Genome Sequencing Analysis

(2019) Kwong Wai Choy et al.   Frontiers in Genetics

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

(2019) Erin Rooney Riggs et al.   GENETICS IN MEDICINE

Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage

(2019) Zirui Dong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prospective chromosome analysis of 3429 amniocentesis samples in China using copy number variation sequencing

(2018) Jing Wang et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

KCNQ2 encephalopathy: A case due to a de novo deletion

(2018) Carlotta Spagnoli et al.   BRAIN & DEVELOPMENT

Prenatal diagnosis by chromosomal microarray analysis

(2018) Brynn Levy et al.   FERTILITY AND STERILITY

Mosaic maternal 10qter deletions are associated with FRA10B expansions and may cause false-positive noninvasive prenatal screening results

(2018) Karin Huijsdens–van Amsterdam et al.   GENETICS IN MEDICINE

Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics

(2017) Zirui Dong et al.   GENETICS IN MEDICINE

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

(2016) Zirui Dong et al.   GENETICS IN MEDICINE

Submicroscopic chromosomal abnormalities in fetuses with increased nuchal translucency and normal karyotype

(2016) Xin Yang et al.   Journal of Maternal-Fetal & Neonatal Medicine

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes

(2016) Douglas M Ruderfer et al.   NATURE GENETICS

An integrated map of structural variation in 2,504 human genomes

(2015) Peter H. Sudmant et al.   NATURE

Diagnostic accuracy of the BACs-on-Beads™assay versus karyotyping for prenatal detection of chromosomal abnormalities: a retrospective consecutive case series

(2014) KW Choy et al.   BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY

The clinical significance of small copy number variants in neurodevelopmental disorders

(2014) Reza Asadollahi et al.   JOURNAL OF MEDICAL GENETICS

Copy Number Variation Sequencing for Comprehensive Diagnosis of Chromosome Disease Syndromes

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

Is high fetal nuchal translucency associated with submicroscopic chromosomal abnormalities on array CGH?

(2014) J. Huang et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Clinical Diagnosis by Whole-Genome Sequencing of a Prenatal Sample

(2012) Michael E. Talkowski et al.   NEW ENGLAND JOURNAL OF MEDICINE

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

(2011) Beata A Nowakowska et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Genetic counseling for the 22q11.2 deletion

(2008) Donna M. McDonald-McGinn et al.   Developmental Disabilities Research Reviews