Personalized genome sequencing coupled with iPSC technology identifies GTDC1 as a gene involved in neurodevelopmental disorders

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

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

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

(2014) Kagistia H. Utami et al.   PLoS One

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

The zebrafish reference genome sequence and its relationship to the human genome

(2013) Kerstin Howe et al.   NATURE

Timothy syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons

(2013) Jocelyn F Krey et al.   NATURE NEUROSCIENCE

Modeling Timothy Syndrome with iPS Cells

(2013) Masayuki Yazawa et al.   Journal of Cardiovascular Translational Research

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

(2012) Michael E. Talkowski et al.   CELL

Identification of Intercellular Cell Adhesion Molecule 1 (ICAM-1) as a Hypoglycosylation Marker in Congenital Disorders of Glycosylation Cells

(2012) Ping He et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Hooked! Modeling human disease in zebrafish

(2012) Cristina Santoriello et al.   JOURNAL OF CLINICAL INVESTIGATION

Why Do Axons Differ in Caliber?

(2012) J. A. Perge et al.   JOURNAL OF NEUROSCIENCE

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

Autism spectrum disorder susceptibility gene TAOK2 affects basal dendrite formation in the neocortex

(2012) Froylan Calderon de Anda et al.   NATURE NEUROSCIENCE

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

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

Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report

(2012) Milene Mulatinho et al.   Molecular Cytogenetics

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

LRRK2 Mutant iPSC-Derived DA Neurons Demonstrate Increased Susceptibility to Oxidative Stress

(2011) Ha Nam Nguyen et al.   Cell Stem Cell

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

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

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

Induced pluripotent stem cells (iPSCs) and neurological disease modeling: progress and promises

(2011) M. C. Marchetto et al.   HUMAN MOLECULAR GENETICS

Congenital disorders of glycosylation (CDG): it’s (nearly) all in it!

(2011) Jaak Jaeken   JOURNAL OF INHERITED METABOLIC DISEASE

Integration-free induced pluripotent stem cells derived from schizophrenia patients with a DISC1 mutation

(2011) C-H Chiang et al.   MOLECULAR PSYCHIATRY

Modelling schizophrenia using human induced pluripotent stem cells

(2011) Kristen J. Brennand et al.   NATURE

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

Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome

(2011) Sergiu P Paşca et al.   NATURE MEDICINE

Rapid induction and long-term self-renewal of primitive neural precursors from human embryonic stem cells by small molecule inhibitors

(2011) W. Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Zebrafish models for the functional genomics of neurogenetic disorders

(2010) Edor Kabashi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells

(2010) Maria C.N. Marchetto et al.   CELL

Islet1 selectively promotes peripheral axon outgrowth in Rohon-Beard primary sensory neurons

(2010) Hideomi Tanaka et al.   DEVELOPMENTAL DYNAMICS

FGF receptor gene expression and its regulation by FGF signaling during early zebrafish development

(2010) Satoshi Ota et al.   GENESIS

CDG nomenclature: Time for a change!

(2009) Jaak Jaeken et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

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

Next-generation DNA sequencing of paired-end tags (PET) for transcriptome and genome analyses

(2009) M. J. Fullwood et al.   GENOME RESEARCH

Balanced translocations in mental retardation

(2009) Geert Vandeweyer et al.   HUMAN GENETICS

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

Glucocorticoid Prevents Brain-Derived Neurotrophic Factor-Mediated Maturation of Synaptic Function in Developing Hippocampal Neurons through Reduction in the Activity of Mitogen-Activated Protein Kinase

(2007) Emi Kumamaru et al.   MOLECULAR ENDOCRINOLOGY

High-resolution in situ hybridization to whole-mount zebrafish embryos

(2007) Christine Thisse et al.   Nature Protocols