Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells

Cell-of-Origin-Specific 3D Genome Structure Acquired during Somatic Cell Reprogramming

(2016) Peter Hugo Lodewijk Krijger et al.   Cell Stem Cell

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

(2016) Claire Redin et al.   NATURE GENETICS

Pluripotent stem cells in disease modelling and drug discovery

(2016) Yishai Avior et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Breaking TADs: How Alterations of Chromatin Domains Result in Disease

(2016) Darío G. Lupiáñez et al.   TRENDS IN GENETICS

A Genetic-Pathophysiological Framework for Craniosynostosis

(2015) Stephen R.F. Twigg et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Variants in an Hdac9 intronic enhancer plasmid impact Twist1 expression in vitro

(2015) Tyler E. Siekmann et al.   MAMMALIAN GENOME

Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies

(2015) Dennis Lal et al.   PLoS Genetics

Transcriptional Consequences of 16p11.2 Deletion and Duplication in Mouse Cortex and Multiplex Autism Families

(2014) Ian Blumenthal et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

(2014) Dalila Pinto et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genomic and Functional Overlap between Somatic and Germline Chromosomal Rearrangements

(2014) Sebastiaan van Heesch et al.   Cell Reports

Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease

(2014) Wigard P Kloosterman et al.   Molecular Cytogenetics

On the outside, looking in: A review and evaluation of the comparability of blood and brain “-omes”

(2013) Daniel S. Tylee et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Structural variations, the regulatory landscape of the genome and their alteration in human disease

(2013) Malte Spielmann et al.   BIOESSAYS

Chromothripsis in congenital disorders and cancer: similarities and differences

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

Contactins in the neurobiology of autism

(2013) Amila Zuko et al.   EUROPEAN JOURNAL OF PHARMACOLOGY

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

(2013) Vikram P Sharma et al.   NATURE GENETICS

Phenotypic impact of genomic structural variation: insights from and for human disease

(2013) Joachim Weischenfeldt et al.   NATURE REVIEWS GENETICS

Software for Computing and Annotating Genomic Ranges

(2013) Michael Lawrence et al.   PLoS Computational Biology

Genome-wide Transcriptome Profiling Reveals the Functional Impact of Rare De Novo and Recurrent CNVs in Autism Spectrum Disorders

(2012) Rui Luo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Coding exons function as tissue-specific enhancers of nearby genes

(2012) Ramon Y. Birnbaum et al.   GENOME RESEARCH

The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders

(2012) Claire Bacon et al.   HUMAN GENETICS

Determining long-range chromatin interactions for selected genomic sites using 4C-seq technology: From fixation to computation

(2012) Erik Splinter et al.   METHODS

Topological domains in mammalian genomes identified by analysis of chromatin interactions

(2012) Jesse R. Dixon et al.   NATURE

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia

(2012) Bin Xu et al.   NATURE GENETICS

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

ChromHMM: automating chromatin-state discovery and characterization

(2012) Jason Ernst et al.   NATURE METHODS

Directed differentiation of human pluripotent stem cells to cerebral cortex neurons and neural networks

(2012) Yichen Shi et al.   Nature Protocols

Induced pluripotent stem cells: the new patient?

(2012) Milena Bellin et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

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

A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder

(2012) Aparna Prasad et al.   G3-Genes Genomes Genetics

The Human Brain in a Dish: The Promise of iPSC-Derived Neurons

(2011) Ricardo Dolmetsch et al.   CELL

Massive Genomic Rearrangement Acquired in a Single Catastrophic Event during Cancer Development

(2011) Philip J. Stephens et al.   CELL

Normal and disease-related biological functions of Twist1 and underlying molecular mechanisms

(2011) Qian Qin et al.   CELL RESEARCH

Impact of induced pluripotent stem cells on the study of central nervous system disease

(2011) Paige E Cundiff et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

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

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

(2011) Erin B. Kaminsky et al.   GENETICS IN MEDICINE

Relating CNVs to transcriptome data at fine resolution: Assessment of the effect of variant size, type, and overlap with functional regions

(2011) A. Schlattl et al.   GENOME RESEARCH

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

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

Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

(2011) M. H. Willemsen et al.   JOURNAL OF MEDICAL GENETICS

Lentiviral Vector Design and Imaging Approaches to Visualize the Early Stages of Cellular Reprogramming

(2011) Eva Warlich et al.   MOLECULAR THERAPY

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

De novo 7p partial trisomy characterized by subtelomeric FISH and whole-genome array in a girl with mental retardation

(2011) Aswini S et al.   Molecular Cytogenetics

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

Structural Variation in the Human Genome and its Role in Disease

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

Is human blood a good surrogate for brain tissue in transcriptional studies?

(2010) Chaochao Cai et al.   BMC GENOMICS

Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder

(2010) MT Carter et al.   CLINICAL GENETICS

Contactins

(2010) Yasushi Shimoda et al.   Cell Adhesion & Migration

Differential expression analysis for sequence count data

(2010) Simon Anders et al.   GENOME BIOLOGY

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Circos: An information aesthetic for comparative genomics

(2009) M. Krzywinski et al.   GENOME RESEARCH

Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry

(2008) E. M. Morrow et al.   SCIENCE