7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages

Disrupting hedgehog and WNT signaling interactions promotes cleft lip pathogenesis

(2014) Hiroshi Kurosaka et al.   JOURNAL OF CLINICAL INVESTIGATION

Abnormalities in human pluripotent cells due to reprogramming mechanisms

(2014) Hong Ma et al.   NATURE

Genetic variability in the regulation of gene expression in ten regions of the human brain

(2014) Adaikalavan Ramasamy et al.   NATURE NEUROSCIENCE

Genomic and proteomic analysis of transcription factor TFII-I reveals insight into the response to cellular stress

(2014) Alex Xiucheng Fan et al.   NUCLEIC ACIDS RESEARCH

The role of SATB2 in skeletogenesis and human disease

(2013) Xiaoying Zhao et al.   CYTOKINE & GROWTH FACTOR REVIEWS

Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits

(2013) Carmela Fusco et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Patched1 is required in neural crest cells for the prevention of orofacial clefts

(2013) Vicki Metzis et al.   HUMAN MOLECULAR GENETICS

Directed differentiation of human pluripotent cells to neural crest stem cells

(2013) Laura Menendez et al.   Nature Protocols

High-throughput chromatin immunoprecipitation for genome-wide mapping of in vivo protein-DNA interactions and epigenomic states

(2013) Ronnie Blecher-Gonen et al.   Nature Protocols

Origins and implications of pluripotent stem cell variability and heterogeneity

(2013) Patrick Cahan et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Induced Pluripotent Stem Cell Modeling of Multisystemic, Hereditary Transthyretin Amyloidosis

(2013) Amy Leung et al.   Stem Cell Reports

Duplication of GTF2I Results in Separation Anxiety in Mice and Humans

(2012) Carolyn B. Mervis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Modeling Supravalvular Aortic Stenosis Syndrome With Human Induced Pluripotent Stem Cells

(2012) Xin Ge et al.   CIRCULATION

Bmp signaling regulates a dose-dependent transcriptional program to control facial skeletal development

(2012) M. Bonilla-Claudio et al.   DEVELOPMENT

Williams Syndrome Transcription Factor is critical for neural crest cell function in Xenopus laevis

(2012) Chris Barnett et al.   MECHANISMS OF DEVELOPMENT

Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells

(2012) Alexej Abyzov et al.   NATURE

An anatomically comprehensive atlas of the adult human brain transcriptome

(2012) Michael J. Hawrylycz et al.   NATURE

Human cerebral cortex development from pluripotent stem cells to functional excitatory synapses

(2012) Yichen Shi et al.   NATURE NEUROSCIENCE

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

(2012) Yichen Shi et al.   Nature Protocols

Neural Crest Cell Survival Is Dependent on Rho Kinase and Is Required for Development of the Mid Face in Mouse Embryos

(2012) Helen M. Phillips et al.   PLoS One

Diversity and Complexity in Chromatin Recognition by TFII-I Transcription Factors in Pluripotent Embryonic Stem Cells and Embryonic Tissues

(2012) Aleksandr V. Makeyev et al.   PLoS One

The H3K27 Demethylase JMJD3 Is Required for Maintenance of the Embryonic Respiratory Neuronal Network, Neonatal Breathing, and Survival

(2012) Thomas Burgold et al.   Cell Reports

Mutations in Hedgehog Acyltransferase (Hhat) Perturb Hedgehog Signaling, Resulting in Severe Acrania-Holoprosencephaly-Agnathia Craniofacial Defects

(2012) Jennifer F. Dennis et al.   PLoS Genetics

Reduction of NADPH-Oxidase Activity Ameliorates the Cardiovascular Phenotype in a Mouse Model of Williams-Beuren Syndrome

(2012) Victoria Campuzano et al.   PLoS Genetics

Genomic instability in induced stem cells

(2011) C E Pasi et al.   CELL DEATH AND DIFFERENTIATION

Cellular Reprogramming: Recent Advances in Modeling Neurological Diseases

(2011) G.-L. Ming et al.   JOURNAL OF NEUROSCIENCE

Parent-of-origin effects of FAS and PDLIM1 in attention-deficit/hyperactivity disorder

(2011) Ke-Sheng Wang   JOURNAL OF PSYCHIATRY & NEUROSCIENCE

LSD1 regulates the balance between self-renewal and differentiation in human embryonic stem cells

(2011) Antonio Adamo et al.   NATURE CELL BIOLOGY

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

(2011) Stephan J. Sanders et al.   NEURON

Global Analysis of Gene Expression in the Developing Brain of Gtf2ird1 Knockout Mice

(2011) Jennifer O'Leary et al.   PLoS One

RCOR2 Is a Subunit of the LSD1 Complex That Regulates ESC Property and Substitutes for SOX2 in Reprogramming Somatic Cells to Pluripotency

(2011) Peng Yang et al.   STEM CELLS

Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate

(2010) Ariadne Letra et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Animal models of Williams syndrome

(2010) Lucy R. Osborne   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions

(2010) Takeshi Sakurai et al.   Autism Research

Highly Efficient Reprogramming to Pluripotency and Directed Differentiation of Human Cells with Synthetic Modified mRNA

(2010) Luigi Warren et al.   Cell Stem Cell

Molecular Basis of Williams-Beuren Syndrome: TFII-I Regulated Targets Involved in Craniofacial Development

(2010) Aleksandr V. Makeyev et al.   CLEFT PALATE-CRANIOFACIAL JOURNAL

Molecular mechanisms of cranial neural crest cell migration and patterning in craniofacial development

(2010) M. Minoux et al.   DEVELOPMENT

Transcriptome profile in Williams–Beuren syndrome lymphoblast cells reveals gene pathways implicated in glucose intolerance and visuospatial construction deficits

(2010) Anna Antonell et al.   HUMAN GENETICS

Copy number variants at Williams–Beuren syndrome 7q11.23 region

(2010) Giuseppe Merla et al.   HUMAN GENETICS

Williams–Beuren Syndrome

(2010) Barbara R. Pober   NEW ENGLAND JOURNAL OF MEDICINE

Sonic hedgehog signalling inhibits palatogenesis and arrests tooth development in a mouse model of the nevoid basal cell carcinoma syndrome

(2009) Martyn T. Cobourne et al.   DEVELOPMENTAL BIOLOGY

An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient

(2009) Giovanni Battista Ferrero et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

(2009) Nathalie Van der Aa et al.   European Journal of Medical Genetics

Williams-Beuren Syndrome-associated Transcription Factor TFII-I Regulates Osteogenic Marker Genes

(2009) Maria B. Lazebnik et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile

(2009) A. Antonell et al.   JOURNAL OF MEDICAL GENETICS

Characterization of CLP36/Elfin/PDLIM1 in the nervous system

(2009) Koji Ohno et al.   JOURNAL OF NEUROCHEMISTRY

Lineage-Specific Polycomb Targets and De Novo DNA Methylation Define Restriction and Potential of Neuronal Progenitors

(2008) Fabio Mohn et al.   MOLECULAR CELL

The Histone H3 Lysine 27-Specific Demethylase Jmjd3 Is Required for Neural Commitment

(2008) Thomas Burgold et al.   PLoS One

ZNF198 Stabilizes the LSD1–CoREST–HDAC1 Complex on Chromatin through Its MYM-Type Zinc Fingers

(2008) Christian B. Gocke et al.   PLoS One

Identification of the TFII-I family target genes in the vertebrate genome

(2008) Nyam-Osor Chimge et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA