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Somatic mosaicism and neurodevelopmental disease

Nature neuroscience, 2018-11, Vol.21 (11), p.1504-1514

2018

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The Genetics of Primary Microcephaly

Annual review of genomics and human genetics, 2018-08, Vol.19 (1), p.177-200

2018

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Building a lineage from single cells: genetic techniques for cell lineage tracking

Nature reviews. Genetics, 2017-04, Vol.18 (4), p.230-244

2017

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Ion Channel Functions in Early Brain Development

Trends in neurosciences (Regular ed.), 2020-02, Vol.43 (2), p.103-114

2020

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Somatic Mutation, Genomic Variation, and Neurological Disease

Science (American Association for the Advancement of Science), 2013-07, Vol.341 (6141), p.43-43

2013

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Single-Neuron Sequencing Analysis of L1 Retrotransposition and Somatic Mutation in the Human Brain

Cell, 2012-10, Vol.151 (3), p.483-496

2012

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The Cerebrospinal Fluid Provides a Proliferative Niche for Neural Progenitor Cells

Neuron (Cambridge, Mass.), 2011-03, Vol.69 (5), p.893-905

2011

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Genetic Changes Shaping the Human Brain

Developmental cell, 2015-02, Vol.32 (4), p.423-434

2015

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Recent Advances in Understanding the Genetic Architecture of Autism

Annual review of genomics and human genetics, 2020-08, Vol.21 (1), p.289-304

2020

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Single-Cell, Genome-wide Sequencing Identifies Clonal Somatic Copy-Number Variation in the Human Brain

Cell reports (Cambridge), 2014-09, Vol.8 (5), p.1280-1289

2014

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Single-cell analysis reveals transcriptional heterogeneity of neural progenitors in human cortex

Nature neuroscience, 2015-05, Vol.18 (5), p.637-646

2015

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Somatic mutation in single human neurons tracks developmental and transcriptional history

Science (American Association for the Advancement of Science), 2015-10, Vol.350 (6256), p.94-98

2015

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The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission

Epilepsia (Copenhagen), 2022-08, Vol.63 (8), p.1899-1919

2022

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Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms

Neuron (Cambridge, Mass.), 2015-12, Vol.88 (5), p.910-917

2015

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Cell lineage analysis in human brain using endogenous retroelements

Neuron (Cambridge, Mass.), 2015-01, Vol.85 (1), p.49-59

2015

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Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

Neuron (Cambridge, Mass.), 2012-04, Vol.74 (1), p.41-48

2012

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The Diverse Genetic Landscape of Neurodevelopmental Disorders

Annual review of genomics and human genetics, 2014-01, Vol.15 (1), p.195-213

2014

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Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior

Cell, 2016-10, Vol.167 (2), p.341-354.e12

2016

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Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias

Cell reports (Cambridge), 2017-12, Vol.21 (13), p.3754-3766

2017

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Neurogenesis at the Brain-Cerebrospinal Fluid Interface

Annual review of cell and developmental biology, 2011-01, Vol.27 (1), p.653-679

2011

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Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia

Annals of neurology, 2015-04, Vol.77 (4), p.720-725

2015

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Molecular Basis for Specific Regulation of Neuronal Kinesin-3 Motors by Doublecortin Family Proteins

Molecular cell, 2012-09, Vol.47 (5), p.707-721

2012

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Genetic causes of microcephaly and lessons for neuronal development

Wiley interdisciplinary reviews. Developmental biology, 2013-07, Vol.2 (4), p.461-478

2013

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Regulation of Cerebral Cortical Size by Control of Cell Cycle Exit in Neural Precursors

Science (American Association for the Advancement of Science), 2002-07, Vol.297 (5580), p.365-369

2002

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Landmarks of human embryonic development inscribed in somatic mutations

Science (American Association for the Advancement of Science), 2021-03, Vol.371 (6535), p.1249-1253

2021

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Somatic mosaicism and neurodevelopmental disease

The Genetics of Primary Microcephaly

Building a lineage from single cells: genetic techniques for cell lineage tracking

Ion Channel Functions in Early Brain Development

Somatic Mutation, Genomic Variation, and Neurological Disease

Single-Neuron Sequencing Analysis of L1 Retrotransposition and Somatic Mutation in the Human Brain

The Cerebrospinal Fluid Provides a Proliferative Niche for Neural Progenitor Cells

Genetic Changes Shaping the Human Brain

Recent Advances in Understanding the Genetic Architecture of Autism

Single-Cell, Genome-wide Sequencing Identifies Clonal Somatic Copy-Number Variation in the Human Brain

Single-cell analysis reveals transcriptional heterogeneity of neural progenitors in human cortex

Somatic mutation in single human neurons tracks developmental and transcriptional history

The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms

Cell lineage analysis in human brain using endogenous retroelements

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

The Diverse Genetic Landscape of Neurodevelopmental Disorders

Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior

Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias

Neurogenesis at the Brain-Cerebrospinal Fluid Interface

Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia

Molecular Basis for Specific Regulation of Neuronal Kinesin-3 Motors by Doublecortin Family Proteins

Genetic causes of microcephaly and lessons for neuronal development

Regulation of Cerebral Cortical Size by Control of Cell Cycle Exit in Neural Precursors

Landmarks of human embryonic development inscribed in somatic mutations

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