Allele-Specific Biased Expression of the CNTN6 Gene in iPS Cell-Derived Neurons from a Patient with Intellectual Disability and 3p26.3 Microduplication Involving the CNTN6 Gene

Landscape of monoallelic DNA accessibility in mouse embryonic stem cells and neural progenitor cells

(2017) Jin Xu et al.   NATURE GENETICS

Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome

(2017) Alden Y. Huang et al.   NEURON

Canvas: versatile and scalable detection of copy number variants

(2016) Eric Roller et al.   BIOINFORMATICS

CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders

(2016) O Mercati et al.   MOLECULAR PSYCHIATRY

Novel microduplication of CHL1 gene in a patient with autism spectrum disorder: a case report and a brief literature review

(2016) Chunyang Li et al.   Molecular Cytogenetics

Detecting Genetic Mosaicism in Cultures of Human Pluripotent Stem Cells

(2016) Duncan Baker et al.   Stem Cell Reports

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications

(2015) Xiaoyu Chen et al.   BIOINFORMATICS

CNTN6 copy number variations in 14 patients: a possible candidate gene for neurodevelopmental and neuropsychiatric disorders

(2015) Jie Hu et al.   Journal of Neurodevelopmental Disorders

Genetic studies in intellectual disability and related disorders

(2015) Lisenka E. L. M. Vissers et al.   NATURE REVIEWS GENETICS

De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypes

(2015) Orazio Palumbo et al.   Molecular Cytogenetics

Concise Review: Methods and Cell Types Used to Generate Down Syndrome Induced Pluripotent Stem Cells

(2015) Youssef Hibaoui et al.   Journal of Clinical Medicine

Uniparental disomy of the entire X chromosome in Turner syndrome patient-specific induced pluripotent stem cells

(2015) Yumei Luo et al.   Cell Discovery

A terminal 3p26.3 deletion is not associated with dysmorphic features and intellectual disability in a four-generation family

(2014) Setareh Moghadasi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Developmental Dynamics and Disease Potential of Random Monoallelic Gene Expression

(2014) Anne-Valerie Gendrel et al.   DEVELOPMENTAL CELL

Comparison and Optimization of hiPSC Forebrain Cortical Differentiation Protocols

(2014) Christina R. Muratore et al.   PLoS One

Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability

(2014) Anna A Kashevarova et al.   Molecular Cytogenetics

A new single gene deletion on 2q34:ERBB4is associated with intellectual disability

(2013) Jurate Kasnauskiene et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21

(2013) Youssef Hibaoui et al.   EMBO Molecular Medicine

Contactins in the neurobiology of autism

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

Rapid Single-Step Induction of Functional Neurons from Human Pluripotent Stem Cells

(2013) Yingsha Zhang et al.   NEURON

Microduplication of 3p26.3 in Nonsyndromic Intellectual Disability Indicates an Important Role of CHL1 for Normal Cognitive Function

(2013) Moneef Shoukier et al.   NEUROPEDIATRICS

Primer-BLAST: A tool to design target-specific primers for polymerase chain reaction

(2012) Jian Ye et al.   BMC BIOINFORMATICS

Primer3—new capabilities and interfaces

(2012) Andreas Untergasser et al.   NUCLEIC ACIDS RESEARCH

Transcriptome-Wide Survey of Mouse CNS-Derived Cells Reveals Monoallelic Expression within Novel Gene Families

(2012) Sierra M. Li et al.   PLoS One

Highly Pure and Expandable PSA-NCAM-Positive Neural Precursors from Human ESC and iPSC-Derived Neural Rosettes

(2012) Dae-Sung Kim et al.   PLoS One

Generation of disease-specific induced pluripotent stem cells from patients with different karyotypes of Down syndrome

(2012) Xiaoning Mou et al.   Stem Cell Research & Therapy

Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders

(2011) Fady M. Mikhail et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Screening ethnically diverse human embryonic stem cells identifies a chromosome 20 minimal amplicon conferring growth advantage

(2011)   NATURE BIOTECHNOLOGY

Cell-Surface Marker Signatures for the Isolation of Neural Stem Cells, Glia and Neurons Derived from Human Pluripotent Stem Cells

(2011) Shauna H. Yuan et al.   PLoS One

SVDetect: a tool to identify genomic structural variations from paired-end and mate-pair sequencing data

(2010) Bruno Zeitouni et al.   BIOINFORMATICS

Bidirectional reprogramming of mouse embryonic stem cell/fibroblast hybrid cells is initiated at the heterokaryon stage

(2010) Maria M. Gridina et al.   CELL AND TISSUE RESEARCH

Direct conversion of fibroblasts to functional neurons by defined factors

(2010) Thomas Vierbuchen et al.   NATURE

Contactins

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

Contribution of the neural cell recognition molecule NB-3 to synapse formation between parallel fibers and Purkinje cells in mouse

(2009) Kunie Sakurai et al.   Developmental Neurobiology

Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome

(2009) Hilde Van Esch et al.   European Journal of Medical Genetics

Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling

(2009) Stuart M Chambers et al.   NATURE BIOTECHNOLOGY

A rosette-type, self-renewing human ES cell-derived neural stem cell with potential for in vitro instruction and synaptic integration

(2009) P. Koch et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Teratoma formation by human embryonic stem cells: Evaluation of essential parameters for future safety studies

(2009) Hannes Hentze et al.   Stem Cell Research

Embryonic stem cell/fibroblast hybrid cells with near-tetraploid karyotype provide high yield of chimeras

(2008) A. A. Kruglova et al.   CELL AND TISSUE RESEARCH