Segmental aneuploidies with 1 Mb resolution in human preimplantation blastocysts

Using outcome data from one thousand mosaic embryo transfers to formulate an embryo ranking system for clinical use

(2021) Manuel Viotti et al.   FERTILITY AND STERILITY

Complex mosaic blastocysts following preimplantation genetic testing: prevalence and outcomes following re-biopsy and re-vitrification

(2021) Shuang Zhou et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Incidence, Origin, and Predictive Model for the Detection and Clinical Management of Segmental Aneuploidies in Human Embryos

(2020) Laura Girardi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Insights into variation in meiosis from 31,228 human sperm genomes

(2020) Avery Davis Bell et al.   NATURE

Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes

(2019) Desheng Liang et al.   GENETICS IN MEDICINE

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

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

(2019) Huilin Wang et al.   GENETICS IN MEDICINE

Segmental aneuploidy in human blastocysts: a qualitative and quantitative overview

(2019) María-José Escribà et al.   Reproductive Biology and Endocrinology

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

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

Defining the limits of detection for chromosome rearrangements in the preimplantation embryo using next generation sequencing

(2018) C Cuman et al.   HUMAN REPRODUCTION

Prevalence and authenticity of de-novo segmental aneuploidy (>16 Mb) in human blastocysts as detected by next-generation sequencing

(2018) Shuang Zhou et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Assessment of aneuploidy concordance between clinical trophectoderm biopsy and blastocyst

(2018) Andrea R Victor et al.   HUMAN REPRODUCTION

Incidence and origin of meiotic whole and segmental chromosomal aneuploidies detected by karyomapping

(2018) David Kubicek et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Detection of segmental aneuploidy and mosaicism in the human preimplantation embryo: technical considerations and limitations

(2017) Nathan R. Treff et al.   FERTILITY AND STERILITY

Introduction

(2017) Richard T. Scott   FERTILITY AND STERILITY

Diagnosis and clinical management of duplications and deletions

(2017) Antonio Capalbo et al.   FERTILITY AND STERILITY

Detailed investigation into the cytogenetic constitution and pregnancy outcome of replacing mosaic blastocysts detected with the use of high-resolution next-generation sequencing

(2017) Santiago Munné et al.   FERTILITY AND STERILITY

The incidence and origin of segmental aneuploidy in human oocytes and preimplantation embryos

(2017) D Babariya et al.   HUMAN REPRODUCTION

Non-invasive prenatal screening versus prenatal diagnosis by array comparative genomic hybridization: a comparative retrospective study

(2017) Alexandros Sotiriadis et al.   PRENATAL DIAGNOSIS

A copy number variation map of the human genome

(2015) Mehdi Zarrei et al.   NATURE REVIEWS GENETICS

The clinical utility of next-generation sequencing for identifying chromosome disease syndromes in human embryos

(2015) Junmei Fan et al.   REPRODUCTIVE BIOMEDICINE ONLINE

The Genetics of Microdeletion and Microduplication Syndromes: An Update

(2014) Corey T. Watson et al.   Annual Review of Genomics and Human Genetics

New microdeletion and microduplication syndromes: a comprehensive review

(2014) Julián Nevado et al.   GENETICS AND MOLECULAR BIOLOGY

Application of next-generation sequencing technology for comprehensive aneuploidy screening of blastocysts in clinical preimplantation genetic screening cycles

(2014) Francesco Fiorentino et al.   HUMAN REPRODUCTION

Clinical outcome of preimplantation genetic diagnosis and screening using next generation sequencing

(2014) Yueqiu Tan et al.   GigaScience

Massively Parallel Sequencing for Chromosomal Abnormality Testing in Trophectoderm Cells of Human Blastocysts1

(2013) XuYang Yin et al.   BIOLOGY OF REPRODUCTION

Single-nucleotide polymorphism microarray-based preimplantation genetic diagnosis is likely to improve the clinical outcome for translocation carriers

(2013) Y.- Q. Tan et al.   HUMAN REPRODUCTION

Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnancies

(2012) C-N Lee et al.   BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

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

Human Copy Number Variation and Complex Genetic Disease

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

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

Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis

(2011) Lluís Armengol et al.   HUMAN GENETICS

Structural Variation in the Human Genome and its Role in Disease

(2010) Paweł Stankiewicz et al.   Annual Review of Medicine

SOAP2: an improved ultrafast tool for short read alignment

(2009) R. Li et al.   BIOINFORMATICS