Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders

Improving mammalian genome scaffolding using large insert mate-pair next-generation sequencing

(2013) Sebastiaan van Heesch et al.   BMC GENOMICS

Chromothripsis in congenital disorders and cancer: similarities and differences

(2013) Wigard P Kloosterman et al.   CURRENT OPINION IN CELL BIOLOGY

Dependence receptor UNC5D mediates nerve growth factor depletion–induced neuroblastoma regression

(2013) Yuyan Zhu et al.   JOURNAL OF CLINICAL INVESTIGATION

Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations

(2013) Caroline Schluth-Bolard et al.   JOURNAL OF MEDICAL GENETICS

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

(2012) Michael E. Talkowski et al.   CELL

Annotation of functional variation in personal genomes using RegulomeDB

(2012) A. P. Boyle et al.   GENOME RESEARCH

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders

(2012) G. J. Swaminathan et al.   HUMAN MOLECULAR GENETICS

On the Origin of Large Two-Photon Activity of DANS Molecule

(2012) Md. Mehboob Alam et al.   JOURNAL OF PHYSICAL CHEMISTRY A

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

The accessible chromatin landscape of the human genome

(2012) Robert E. Thurman et al.   NATURE

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

(2012)   NATURE

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

(2012) Colby Chiang et al.   NATURE GENETICS

A common BIM deletion polymorphism mediates intrinsic resistance and inferior responses to tyrosine kinase inhibitors in cancer

(2012) King Pan Ng et al.   NATURE MEDICINE

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

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

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Long Span DNA Paired-End-Tag (DNA-PET) Sequencing Strategy for the Interrogation of Genomic Structural Mutations and Fusion-Point-Guided Reconstruction of Amplicons

(2012) Fei Yao et al.   PLoS One

Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms

(2012) Wigard P. Kloosterman et al.   Cell Reports

Whole-genome reconstruction and mutational signatures in gastric cancer

(2012) Niranjan Nagarajan et al.   GENOME BIOLOGY

Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research

(2011) Michael E. Talkowski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements

(2011) Pengfei Liu et al.   CELL

Laminar and Areal Expression of Unc5d and Its Role in Cortical Cell Survival

(2011) Makoto Takemoto et al.   CEREBRAL CORTEX

Evolving applications of microarray analysis in prenatal diagnosis

(2011) Melissa S Savage et al.   CURRENT OPINION IN OBSTETRICS & GYNECOLOGY

Comprehensive long-span paired-end-tag mapping reveals characteristic patterns of structural variations in epithelial cancer genomes

(2011) A. M. Hillmer et al.   GENOME RESEARCH

Transcriptional consequences of genomic structural aberrations in breast cancer

(2011) K. Inaki et al.   GENOME RESEARCH

Characterising chromosome rearrangements: recent technical advances in molecular cytogenetics

(2011) S Le Scouarnec et al.   HEREDITY

Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline†

(2011) Wigard P. Kloosterman et al.   HUMAN MOLECULAR GENETICS

Mapping copy number variation by population-scale genome sequencing

(2011) Ryan E. Mills et al.   NATURE

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

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

Chromosome 6 between-arm intrachromosomal insertion with intrasegmental double inversion: A four-break model

(2009) Jia-Chi Wang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing

(2009) Wei Chen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands

(2009) Ron Hochstenbach et al.   European Journal of Medical Genetics

Balanced translocations in mental retardation

(2009) Geert Vandeweyer et al.   HUMAN GENETICS

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

(2009) Donald F. Conrad et al.   NATURE

FISH Mapping of De Novo Apparently Balanced Chromosome Rearrangements Identifies Characteristics Associated with Phenotypic Abnormality

(2008) J.A. Fantes et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mapping and sequencing of structural variation from eight human genomes

(2008) Jeffrey M. Kidd et al.   NATURE

MMEJ repair of double-strand breaks (director’s cut): deleted sequences and alternative endings

(2008) Mitch McVey et al.   TRENDS IN GENETICS