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Using deep mutational scanning to benchmark variant effect predictors and identify disease mutations

Molecular systems biology, 2020-07, Vol.16 (7), p.n/a

2020

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

Nature protocols, 2012-10, Vol.7 (10), p.1836-1846

2012

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Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure

Nature communications, 2022-07, Vol.13 (1), p.3895-3895, Article 3895

2022

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The properties of human disease mutations at protein interfaces

PLoS computational biology, 2022-02, Vol.18 (2), p.e1009858-e1009858

2022

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2D and 3D Stem Cell Models of Primate Cortical Development Identify Species-Specific Differences in Progenitor Behavior Contributing to Brain Size

Cell stem cell, 2016-04, Vol.18 (4), p.467-480

2016

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Updated benchmarking of variant effect predictors using deep mutational scanning

Molecular systems biology, 2023-08, Vol.19 (8), p.e11474-n/a

2023

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Validation of a Bayesian Adaptive Estimation Technique in the Stop-Signal Task

PloS one, 2016-11, Vol.11 (11), p.e0165525-e0165525

2016

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Guided self-organization and cortical plate formation in human brain organoids

Nature biotechnology, 2017-07, Vol.35 (7), p.659-666

2017

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Contextual cuing as a form of nonconscious learning: Theoretical and empirical analysis in large and very large samples

Psychonomic bulletin & review, 2016-12, Vol.23 (6), p.1996-2009

2016

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

Nature neuroscience, 2012-03, Vol.15 (3), p.477-486

2012

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Altered γ-Secretase Processing of APP Disrupts Lysosome and Autophagosome Function in Monogenic Alzheimer’s Disease

Cell reports (Cambridge), 2018-12, Vol.25 (13), p.3647-3660.e2

2018

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APP Metabolism Regulates Tau Proteostasis in Human Cerebral Cortex Neurons

Cell reports (Cambridge), 2015-05, Vol.11 (5), p.689-696

2015

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In vivo modeling of human neuron dynamics and Down syndrome

Science (American Association for the Advancement of Science), 2018-11, Vol.362 (6416)

2018

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Indonesian fire activity and smoke pollution in 2015 show persistent nonlinear sensitivity to El Niño-induced drought

Proceedings of the National Academy of Sciences - PNAS, 2016-08, Vol.113 (33), p.9204-9209

2016

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Extracellular Monomeric and Aggregated Tau Efficiently Enter Human Neurons through Overlapping but Distinct Pathways

Cell reports (Cambridge), 2018-03, Vol.22 (13), p.3612-3624

2018

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A human stem cell model of early Alzheimer's disease pathology in Down syndrome

Science translational medicine, 2012-03, Vol.4 (124), p.124ra29

2012

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Interpreting protein variant effects with computational predictors and deep mutational scanning

Disease models & mechanisms, 2022-06, Vol.15 (6)

2022

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Observed changes in stratospheric circulation: decreasing lifetime of N2O, 2005–2021

Atmospheric chemistry and physics, 2023-01, Vol.23 (2), p.843-849

2023

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Chromatin Regulation by BAF170 Controls Cerebral Cortical Size and Thickness

Developmental cell, 2013-05, Vol.25 (3), p.256-269

2013

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The level of the transcription factor Pax6 is essential for controlling the balance between neural stem cell self-renewal and neurogenesis

PLoS genetics, 2009-06, Vol.5 (6), p.e1000511-e1000511

2009

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Microtubules Deform the Nuclear Membrane and Disrupt Nucleocytoplasmic Transport in Tau-Mediated Frontotemporal Dementia

Cell reports (Cambridge), 2019-01, Vol.26 (3), p.582-593.e5

2019

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Neural Stem Cell Biology in Vertebrates and Invertebrates: More Alike than Different?

Neuron (Cambridge, Mass.), 2011-05, Vol.70 (4), p.719-729

2011

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Stop Signal Task Training Strengthens GABA-mediated Neurotransmission within the Primary Motor Cortex

Journal of cognitive neuroscience, 2020-10, Vol.32 (10), p.1984-2000

2020

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Ezh2, the histone methyltransferase of PRC2, regulates the balance between self-renewal and differentiation in the cerebral cortex

Proceedings of the National Academy of Sciences - PNAS, 2010-09, Vol.107 (36), p.15957-15962

2010

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SORL1 deficiency in human excitatory neurons causes APP-dependent defects in the endolysosome-autophagy network

Cell reports (Cambridge), 2021-06, Vol.35 (11), p.109259-109259, Article 109259

2021

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Using deep mutational scanning to benchmark variant effect predictors and identify disease mutations

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

Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure

The properties of human disease mutations at protein interfaces

2D and 3D Stem Cell Models of Primate Cortical Development Identify Species-Specific Differences in Progenitor Behavior Contributing to Brain Size

Updated benchmarking of variant effect predictors using deep mutational scanning

Validation of a Bayesian Adaptive Estimation Technique in the Stop-Signal Task

Guided self-organization and cortical plate formation in human brain organoids

Contextual cuing as a form of nonconscious learning: Theoretical and empirical analysis in large and very large samples

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

Altered γ-Secretase Processing of APP Disrupts Lysosome and Autophagosome Function in Monogenic Alzheimer’s Disease

APP Metabolism Regulates Tau Proteostasis in Human Cerebral Cortex Neurons

In vivo modeling of human neuron dynamics and Down syndrome

Indonesian fire activity and smoke pollution in 2015 show persistent nonlinear sensitivity to El Niño-induced drought

Extracellular Monomeric and Aggregated Tau Efficiently Enter Human Neurons through Overlapping but Distinct Pathways

A human stem cell model of early Alzheimer's disease pathology in Down syndrome

Interpreting protein variant effects with computational predictors and deep mutational scanning

Observed changes in stratospheric circulation: decreasing lifetime of N2O, 2005–2021

Chromatin Regulation by BAF170 Controls Cerebral Cortical Size and Thickness

The level of the transcription factor Pax6 is essential for controlling the balance between neural stem cell self-renewal and neurogenesis

Microtubules Deform the Nuclear Membrane and Disrupt Nucleocytoplasmic Transport in Tau-Mediated Frontotemporal Dementia

Neural Stem Cell Biology in Vertebrates and Invertebrates: More Alike than Different?

Stop Signal Task Training Strengthens GABA-mediated Neurotransmission within the Primary Motor Cortex

Ezh2, the histone methyltransferase of PRC2, regulates the balance between self-renewal and differentiation in the cerebral cortex

SORL1 deficiency in human excitatory neurons causes APP-dependent defects in the endolysosome-autophagy network

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