Somatic mosaicism and neurodevelopmental disease

A mouse model of DEPDC5 -related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility

(2018) Christopher J. Yuskaitis et al.   NEUROBIOLOGY OF DISEASE

Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy

(2018) Daniel T. Pederick et al.   NEURON

High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders

(2017) Mary Beth Stosser et al.   GENETICS IN MEDICINE

Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations

(2017) Yanmei Dou et al.   HUMAN MUTATION

Genetic Severity Score predicts clinical phenotype in NF2

(2017) Dorothy Halliday et al.   JOURNAL OF MEDICAL GENETICS

Parental influence on human germline de novo mutations in 1,548 trios from Iceland

(2017) Hákon Jónsson et al.   NATURE

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

(2017) Elaine T Lim et al.   NATURE NEUROSCIENCE

Analysis of LINE-1 Elements in DNA from Postmortem Brains of Individuals with Schizophrenia

(2017) Glenn A Doyle et al.   NEUROPSYCHOPHARMACOLOGY

Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery

(2017) Ingmar Blumcke et al.   NEW ENGLAND JOURNAL OF MEDICINE

Aging and neurodegeneration are associated with increased mutations in single human neurons

(2017) Michael A. Lodato et al.   SCIENCE

Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis

(2017) Taejeong Bae et al.   SCIENCE

Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network

(2017) Michael J. McConnell et al.   SCIENCE

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

(2017) Alissa M. D’Gama et al.   Cell Reports

Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia

(2016) Sarah Weckhuysen et al.   EPILEPSIA

L1-associated genomic regions are deleted in somatic cells of the healthy human brain

(2016) Jennifer A Erwin et al.   NATURE NEUROSCIENCE

The Contribution of Mosaic Variants to Autism Spectrum Disorder

(2016) Donald Freed et al.   PLoS Genetics

Resolving rates of mutation in the brain using single-neuron genomics

(2016) Gilad D Evrony et al.   eLife

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

(2015) Rocio Acuna-Hidalgo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulatorNPRL3

(2015) Joe C. Sim et al.   ANNALS OF NEUROLOGY

Familial focal epilepsy with focal cortical dysplasia due toDEPDC5mutations

(2015) Stéphanie Baulac et al.   ANNALS OF NEUROLOGY

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

(2015) Alissa M. D'Gama et al.   ANNALS OF NEUROLOGY

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

(2015) Laura A. Jansen et al.   BRAIN

Ubiquitous L1 Mosaicism in Hippocampal Neurons

(2015) Kyle R. Upton et al.   CELL

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

(2015) Jessica Mariani et al.   CELL

Mosaic structural variation in children with developmental disorders

(2015) Daniel A. King et al.   HUMAN MOLECULAR GENETICS

Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of “de novo”SCN1AMutations in Children with Dravet Syndrome

(2015) Xiaojing Xu et al.   HUMAN MUTATION

Integrated genome and transcriptome sequencing of the same cell

(2015) Siddharth S Dey et al.   NATURE BIOTECHNOLOGY

In situ single-cell analysis identifies heterogeneity for PIK3CA mutation and HER2 amplification in HER2-positive breast cancer

(2015) Michalina Janiszewska et al.   NATURE GENETICS

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy

(2015) Jae Seok Lim et al.   NATURE MEDICINE

An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development

(2015) Seung Tae Baek et al.   NATURE MEDICINE

Genetic studies in intellectual disability and related disorders

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

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

(2015) Alissa M. D’Gama et al.   NEURON

Somatic mutation in single human neurons tracks developmental and transcriptional history

(2015) M. A. Lodato et al.   SCIENCE

Assessment of copy number variations in the brain genome of schizophrenia patients

(2015) Miwako Sakai et al.   Molecular Cytogenetics

Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy

(2015) Achira Roy et al.   eLife

Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

(2014) Ian M. Campbell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in mammalian target of rapamycin regulatorDEPDC5cause focal epilepsy with brain malformations

(2014) Ingrid E. Scheffer et al.   ANNALS OF NEUROLOGY

Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings

(2014) Ayelet Zerem et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex

(2014) M. E. Tyburczy et al.   HUMAN MOLECULAR GENETICS

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

Prioritization of neurodevelopmental disease genes by discovery of new mutations

(2014) Alexander Hoischen et al.   NATURE NEUROSCIENCE

Increased L1 Retrotransposition in the Neuronal Genome in Schizophrenia

(2014) Miki Bundo et al.   NEURON

Patches of Disorganization in the Neocortex of Children with Autism

(2014) Rich Stoner et al.   NEW ENGLAND JOURNAL OF MEDICINE

Somatic Mutations in Cerebral Cortical Malformations

(2014) Saumya S. Jamuar et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2014) Xuyu Cai et al.   Cell Reports

Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism

(2013) A. Jeremy Willsey et al.   CELL

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

(2013) Krishna R. Veeramah et al.   EPILEPSIA

Mosaic copy number variation in schizophrenia

(2013) Douglas M Ruderfer et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype

(2013) Cristina Gervasini et al.   European Journal of Medical Genetics

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation

(2013) J. B. Hiatt et al.   GENOME RESEARCH

Modeling Transformations of Neurodevelopmental Sequences across Mammalian Species

(2013) A. D. Workman et al.   JOURNAL OF NEUROSCIENCE

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Massively parallel polymerase cloning and genome sequencing of single cells using nanoliter microwells

(2013) Jeff Gole et al.   NATURE BIOTECHNOLOGY

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

(2013) Gemma L Carvill et al.   NATURE GENETICS

A genomic view of mosaicism and human disease

(2013) Leslie G. Biesecker et al.   NATURE REVIEWS GENETICS

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

(2013) K. Nakamura et al.   NEUROLOGY

Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders

(2013) Elaine T. Lim et al.   NEURON

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

(2013) Timothy W. Yu et al.   NEURON

Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ

(2013) Matthew D. Shirley et al.   NEW ENGLAND JOURNAL OF MEDICINE

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mosaic Copy Number Variation in Human Neurons

(2013) M. J. McConnell et al.   SCIENCE

Somatic Mutation, Genomic Variation, and Neurological Disease

(2013) A. Poduri et al.   SCIENCE

Focal cortical dysplasias in autism spectrum disorders

(2013) Manuel F Casanova et al.   Acta Neuropathologica Communications

Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome

(2012) Kyle C. Kurek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: Case report and review of literature

(2012) Ana C. Laus et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2012) Gilad D. Evrony et al.   CELL

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

(2012) Alexej Abyzov et al.   NATURE

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

(2012) Jeong Ho Lee et al.   NATURE GENETICS

De novo mutations in human genetic disease

(2012) Joris A. Veltman et al.   NATURE REVIEWS GENETICS

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

(2012) Annapurna Poduri et al.   NEURON

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Genome-Wide Detection of Single-Nucleotide and Copy-Number Variations of a Single Human Cell

(2012) C. Zong et al.   SCIENCE

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Fecundity of Patients With Schizophrenia, Autism, Bipolar Disorder, Depression, Anorexia Nervosa, or Substance Abuse vs Their Unaffected Siblings

(2012) Robert A. Power et al.   JAMA Psychiatry

Mosaic trisomy 17: Variable clinical and cytogenetic presentation

(2011) Robert Daber et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

(2011) Sarah Weckhuysen et al.   ANNALS OF NEUROLOGY

A genotype resource for postmortem brain samples from the Autism Tissue Program

(2011) Richard F. Wintle et al.   Autism Research

GABAergic Interneuron Development and Function Is Modulated by the Tsc1 Gene

(2011) Cary Fu et al.   CEREBRAL CORTEX

Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation

(2011) Julia Vogt et al.   HUMAN MUTATION

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

Megapixel digital PCR

(2011) Kevin A Heyries et al.   NATURE METHODS

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

(2011) Dan Levy et al.   NEURON

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

A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome

(2011) Marjorie J. Lindhurst et al.   NEW ENGLAND JOURNAL OF MEDICINE

Germline mosaic transmission of a novel duplication of PXDN and MYT1L to two male half-siblings with autism

(2011) Kacie J. Meyer et al.   PSYCHIATRIC GENETICS

Analysis of TSC Cortical Tubers by Deep Sequencing of TSC1, TSC2 and KRAS Demonstrates that Small Second-Hit Mutations in these Genes are Rare Events

(2010) Wei Qin et al.   BRAIN PATHOLOGY

Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?

(2010) P Castronovo et al.   CLINICAL GENETICS

The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission1

(2010) Ingmar Blümcke et al.   EPILEPSIA

Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH

(2010) Carles Garcia-Linares et al.   HUMAN MUTATION

L1 retrotransposition in neurons is modulated by MeCP2

(2010) Alysson R. Muotri et al.   NATURE

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

Biallelic TSC gene inactivation in tuberous sclerosis complex

(2010) P. B. Crino et al.   NEUROLOGY

Timing of De Novo Mutagenesis — A Twin Study of Sodium-Channel Mutations

(2010) Lata Vadlamudi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mosaic trisomy 1q: The longest surviving case

(2009) Chirag Patel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Parallel sequencing used in detection of mosaic mutations: Comparison with four diagnostic DNA screening techniques

(2009) Anna Rohlin et al.   HUMAN MUTATION

Equal numbers of neuronal and nonneuronal cells make the human brain an isometrically scaled-up primate brain

(2009) Frederico A.C. Azevedo et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

(2009) Christel Depienne et al.   PLoS Genetics

Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism

(2008) Dries Castermans et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Defining the spectrum of international practice in pediatric epilepsy surgery patients

(2007) A. Simon Harvey et al.   EPILEPSIA

The schizophrenia brain exhibits low-level aneuploidy involving chromosome 1

(2007) Yuri B. Yurov et al.   SCHIZOPHRENIA RESEARCH