Precisely controlling endogenous protein dosage in hPSCs and derivatives to model FOXG1 syndrome

Hypoplastic hippocampus in atypical Rett syndrome with a novel FOXG1 mutation

(2018) Kotoha Harada et al.   BRAIN & DEVELOPMENT

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures

(2018) Vincenzo A. Gennarino et al.   CELL

Super-Obese Patient-Derived iPSC Hypothalamic Neurons Exhibit Obesogenic Signatures and Hormone Responses

(2018) Uthra Rajamani et al.   Cell Stem Cell

A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism

(2018) Fabio L. Fernandes-Rosa et al.   NATURE GENETICS

Differential antiviral immunity to Japanese encephalitis virus in developing cortical organoids

(2018) Boya Zhang et al.   Cell Death & Disease

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

(2017) Diana Mitter et al.   GENETICS IN MEDICINE

Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly

(2017) Andrew DiStasio et al.   HUMAN MOLECULAR GENETICS

Assembly of functionally integrated human forebrain spheroids

(2017) Fikri Birey et al.   NATURE

Estimating the selective effects of heterozygous protein-truncating variants from human exome data

(2017) Christopher A Cassa et al.   NATURE GENETICS

Human induced pluripotent stem cells for modelling neurodevelopmental disorders

(2017) Karthikeyan Ardhanareeswaran et al.   Nature Reviews Neurology

Single-Cell Profiling of an In Vitro Model of Human Interneuron Development Reveals Temporal Dynamics of Cell Type Production and Maturation

(2017) Jennie L. Close et al.   NEURON

Trim28 Haploinsufficiency Triggers Bi-stable Epigenetic Obesity

(2016) Kevin Dalgaard et al.   CELL

Neural Subtype Specification from Human Pluripotent Stem Cells

(2016) Yunlong Tao et al.   Cell Stem Cell

CRISPR Interference Efficiently Induces Specific and Reversible Gene Silencing in Human iPSCs

(2016) Mohammad A. Mandegar et al.   Cell Stem Cell

Multidimensional chemical control of CRISPR–Cas9

(2016) Basudeb Maji et al.   Nature Chemical Biology

Partial monosomy14q involving FOXG1 and NOVA1 in an infant with microcephaly, seizures and severe developmental delay

(2016) H. Fryssira et al.   Molecular Cytogenetics

An Inducible System for Rapid Degradation of Specific Cellular Proteins Using Proteasome Adaptors

(2016) Shameika R. Wilmington et al.   PLoS One

HaloPROTACS: Use of Small Molecule PROTACs to Induce Degradation of HaloTag Fusion Proteins

(2015) Dennis L. Buckley et al.   ACS Chemical Biology

Pumilio1 Haploinsufficiency Leads to SCA1-like Neurodegeneration by Increasing Wild-Type Ataxin1 Levels

(2015) Vincenzo A. Gennarino et al.   CELL

FOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum Disorders

(2015) Jessica Mariani et al.   CELL

Engineering Human Stem Cell Lines with Inducible Gene Knockout using CRISPR/Cas9

(2015) Yuejun Chen et al.   Cell Stem Cell

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

(2015) Jianling Ji et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genetic compensation induced by deleterious mutations but not gene knockdowns

(2015) Andrea Rossi et al.   NATURE

Tunable and reversible drug control of protein production via a self-excising degron

(2015) Hokyung K Chung et al.   Nature Chemical Biology

NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

(2015) Vincenzo A Gennarino et al.   eLife

An iCRISPR Platform for Rapid, Multiplexable, and Inducible Genome Editing in Human Pluripotent Stem Cells

(2014) Federico González et al.   Cell Stem Cell

A case of Lennox-Gastaut syndrome in a patient with FOXG1-related disorder

(2014) Gaetano Terrone et al.   EPILEPSIA

Organogenesis in a dish: Modeling development and disease using organoid technologies

(2014) M. A. Lancaster et al.   SCIENCE

A Simple and Efficient System for Regulating Gene Expression in Human Pluripotent Stem Cells and Derivatives

(2014) Kun Qian et al.   STEM CELLS

Directed Differentiation and Functional Maturation of Cortical Interneurons from Human Embryonic Stem Cells

(2013) Asif M. Maroof et al.   Cell Stem Cell

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12

(2013) Christophe Goubau et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Discovery of Danoprevir (ITMN-191/R7227), a Highly Selective and Potent Inhibitor of Hepatitis C Virus (HCV) NS3/4A Protease

(2013) Yutong Jiang et al.   JOURNAL OF MEDICINAL CHEMISTRY

Variation and genetic control of protein abundance in humans

(2013) Linfeng Wu et al.   NATURE

Medial ganglionic eminence–like cells derived from human embryonic stem cells correct learning and memory deficits

(2013) Yan Liu et al.   NATURE BIOTECHNOLOGY

A bright monomeric green fluorescent protein derived from Branchiostoma lanceolatum

(2013) Nathan C Shaner et al.   NATURE METHODS

Genome engineering using the CRISPR-Cas9 system

(2013) F Ann Ran et al.   Nature Protocols

Multiplex Genome Engineering Using CRISPR/Cas Systems

(2013) L. Cong et al.   SCIENCE

Preclinical Profile and Characterization of the Hepatitis C Virus NS3 Protease Inhibitor Asunaprevir (BMS-650032)

(2012) Fiona McPhee et al.   ANTIMICROBIAL AGENTS AND CHEMOTHERAPY

Epilepsy in Rett syndrome, andCDKL5- andFOXG1-gene-related encephalopathies

(2012) Renzo Guerrini et al.   EPILEPSIA

Insights into the regulation of protein abundance from proteomic and transcriptomic analyses

(2012) Christine Vogel et al.   NATURE REVIEWS GENETICS

Inducible, reversible system for the rapid and complete degradation of proteins in mammalian cells

(2012) A. J. Holland et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Programmable Dual-RNA-Guided DNA Endonuclease in Adaptive Bacterial Immunity

(2012) M. Jinek et al.   SCIENCE

Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin-binding dynamics

(2011) R De Filippis et al.   CLINICAL GENETICS

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

(2011) F. Kortum et al.   JOURNAL OF MEDICAL GENETICS

Genetic engineering of human pluripotent cells using TALE nucleases

(2011) Dirk Hockemeyer et al.   NATURE BIOTECHNOLOGY

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation and severe speech impairment

(2010) Nicola Brunetti-Pierri et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Discovery of Vaniprevir (MK-7009), a Macrocyclic Hepatitis C Virus NS3/4a Protease Inhibitor

(2010) John A. McCauley et al.   JOURNAL OF MEDICINAL CHEMISTRY

Bmi-1 cooperates with Foxg1 to maintain neural stem cell self-renewal in the forebrain

(2009) C. A. Fasano et al.   GENES & DEVELOPMENT

Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females

(2009) C. Philippe et al.   JOURNAL OF MEDICAL GENETICS

An auxin-based degron system for the rapid depletion of proteins in nonplant cells

(2009) Kohei Nishimura et al.   NATURE METHODS

Oscillations in Notch Signaling Regulate Maintenance of Neural Progenitors

(2008) Hiromi Shimojo et al.   NEURON