4.7 Review

Somatic mosaicism and neurodevelopmental disease

Related references

Note: Only part of the references are listed.
Article Multidisciplinary Sciences

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

Michael A. Lodato et al.

SCIENCE (2018)

Article Genetics & Heredity

Genetic Severity Score predicts clinical phenotype in NF2

Dorothy Halliday et al.

JOURNAL OF MEDICAL GENETICS (2017)

Article Multidisciplinary Sciences

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

Hakon Jonsson et al.

NATURE (2017)

Article Neurosciences

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

Glenn A. Doyle et al.

NEUROPSYCHOPHARMACOLOGY (2017)

Article Medicine, General & Internal

Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery

I. Blumcke et al.

NEW ENGLAND JOURNAL OF MEDICINE (2017)

Article Medicine, Research & Experimental

iPhemap: an atlas of phenotype to genotype relationships of human iPSC models of neurological diseases

Ethan W. Hollingsworth et al.

EMBO MOLECULAR MEDICINE (2017)

Article Genetics & Heredity

Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder

Deidre R. Krupp et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2017)

Article Genetics & Heredity

Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature

Dorian Perez et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2017)

Article Genetics & Heredity

Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia

Jae Seok Lim et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2017)

Review Genetics & Heredity

Genetic studies in intellectual disability and related disorders

Lisenka E. L. M. Vissers et al.

NATURE REVIEWS GENETICS (2016)

Article Neurosciences

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

Jennifer A. Erwin et al.

NATURE NEUROSCIENCE (2016)

Article Genetics & Heredity

The Contribution of Mosaic Variants to Autism Spectrum Disorder

Donald Freed et al.

PLOS GENETICS (2016)

Article Genetics & Heredity

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

Rocio Acuna-Hidalgo et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2015)

Article Clinical Neurology

Familial Focal Epilepsy with Focal Cortical Dysplasia Due to DEPDC5 Mutations

Stephanie Baulac et al.

ANNALS OF NEUROLOGY (2015)

Article Biochemistry & Molecular Biology

Ubiquitous L1 Mosaicism in Hippocampal Neurons

Kyle R. Upton et al.

Article Biochemistry & Molecular Biology

Mosaic structural variation in children with developmental disorders

Daniel A. King et al.

HUMAN MOLECULAR GENETICS (2015)

Article Biotechnology & Applied Microbiology

Integrated genome and transcriptome sequencing of the same cell

Siddharth S. Dey et al.

NATURE BIOTECHNOLOGY (2015)

Article Biochemistry & Molecular Biology

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

Jae Seok Lim et al.

NATURE MEDICINE (2015)

Article Biochemistry & Molecular Biology

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

Seung Tae Baek et al.

NATURE MEDICINE (2015)

Article Multidisciplinary Sciences

Somatic mutation in single human neurons tracks developmental and transcriptional history

Michael A. Lodato et al.

SCIENCE (2015)

Article Genetics & Heredity

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

Miwako Sakai et al.

MOLECULAR CYTOGENETICS (2015)

Article Biochemistry & Molecular Biology

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

Magdalena E. Tyburczy et al.

HUMAN MOLECULAR GENETICS (2015)

Article Genetics & Heredity

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

Ian M. Campbell et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2014)

Article Clinical Neurology

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

Ayelet Zerem et al.

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2014)

Article Multidisciplinary Sciences

Synaptic, transcriptional and chromatin genes disrupted in autism

Silvia De Rubeis et al.

NATURE (2014)

Article Multidisciplinary Sciences

Genome sequencing identifies major causes of severe intellectual disability

Christian Gilissen et al.

NATURE (2014)

Article Multidisciplinary Sciences

The contribution of de novo coding mutations to autism spectrum disorder

Ivan Iossifov et al.

NATURE (2014)

Review Neurosciences

Prioritization of neurodevelopmental disease genes by discovery of new mutations

Alexander Hoischen et al.

NATURE NEUROSCIENCE (2014)

Article Medicine, General & Internal

Patches of Disorganization in the Neocortex of Children with Autism

Rich Stoner et al.

NEW ENGLAND JOURNAL OF MEDICINE (2014)

Article Medicine, General & Internal

Somatic Mutations in Cerebral Cortical Malformations

Saumya S. Jamuar et al.

NEW ENGLAND JOURNAL OF MEDICINE (2014)

Article Clinical Neurology

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

Krishna R. Veeramah et al.

EPILEPSIA (2013)

Article Biochemistry & Molecular Biology

Mosaic copy number variation in schizophrenia

Douglas M. Ruderfer et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2013)

Article Genetics & Heredity

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

Cristina Gervasini et al.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2013)

Article Biochemistry & Molecular Biology

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

Joseph B. Hiatt et al.

GENOME RESEARCH (2013)

Article Neurosciences

Modeling Transformations of Neurodevelopmental Sequences across Mammalian Species

Alan D. Workman et al.

JOURNAL OF NEUROSCIENCE (2013)

Article Multidisciplinary Sciences

De novo mutations in epileptic encephalopathies

Andrew S. Allen et al.

NATURE (2013)

Article Biotechnology & Applied Microbiology

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

Jeff Gole et al.

NATURE BIOTECHNOLOGY (2013)

Review Genetics & Heredity

A genomic view of mosaicism and human disease

Leslie G. Biesecker et al.

NATURE REVIEWS GENETICS (2013)

Article Clinical Neurology

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

Kazuyuki Nakamura et al.

NEUROLOGY (2013)

Article Neurosciences

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

Timothy W. Yu et al.

NEURON (2013)

Article Medicine, General & Internal

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

Matthew D. Shirley et al.

NEW ENGLAND JOURNAL OF MEDICINE (2013)

Article Medicine, General & Internal

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Yaping Yang et al.

NEW ENGLAND JOURNAL OF MEDICINE (2013)

Article Multidisciplinary Sciences

Mosaic Copy Number Variation in Human Neurons

Michael J. McConnell et al.

SCIENCE (2013)

Review Multidisciplinary Sciences

Somatic Mutation, Genomic Variation, and Neurological Disease

Annapurna Poduri et al.

SCIENCE (2013)

Article Neurosciences

Focal cortical dysplasias in autism spectrum disorders

Manuel F. Casanova et al.

ACTA NEUROPATHOLOGICA COMMUNICATIONS (2013)

Article Genetics & Heredity

Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome

Kyle C. Kurek et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2012)

Review Genetics & Heredity

Karyotype/Phenotype Correlation in Partial Trisomies of the Long Arm of Chromosome 16: Case Report and Review of Literature

Ana C. Laus et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)

Article Clinical Neurology

KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

Sarah Weckhuysen et al.

ANNALS OF NEUROLOGY (2012)

Article Multidisciplinary Sciences

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

Alexej Abyzov et al.

NATURE (2012)

Article Multidisciplinary Sciences

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

Benjamin M. Neale et al.

NATURE (2012)

Article Multidisciplinary Sciences

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

Stephan J. Sanders et al.

NATURE (2012)

Article Multidisciplinary Sciences

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

Augustine Kong et al.

NATURE (2012)

Article Multidisciplinary Sciences

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

Brian J. O'Roak et al.

NATURE (2012)

Review Genetics & Heredity

APPLICATIONS OF NEXT-GENERATION SEQUENCING De novo mutations in human genetic disease

Joris A. Veltman et al.

NATURE REVIEWS GENETICS (2012)

Article Neurosciences

De Novo Gene Disruptions in Children on the Autistic Spectrum

Ivan Iossifov et al.

NEURON (2012)

Article Genetics & Heredity

Mosaic Trisomy 17: Variable Clinical and Cytogenetic Presentation

Robert Daber et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)

Article Behavioral Sciences

A Genotype Resource for Postmortem Brain Samples from the Autism Tissue Program

Richard F. Wintle et al.

AUTISM RESEARCH (2011)

Article Genetics & Heredity

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

Brian J. O'Roak et al.

NATURE GENETICS (2011)

Article Biochemical Research Methods

Megapixel digital PCR

Kevin A. Heyries et al.

NATURE METHODS (2011)

Article Medicine, General & Internal

A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome

Marjorie J. Lindhurst et al.

NEW ENGLAND JOURNAL OF MEDICINE (2011)

Article Multidisciplinary Sciences

L1 retrotransposition in neurons is modulated by MeCP2

Alysson R. Muotri et al.

NATURE (2010)

Article Multidisciplinary Sciences

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

Dalila Pinto et al.

NATURE (2010)

Article Clinical Neurology

Biallelic TSC gene inactivation in tuberous sclerosis complex

Peter B. Crino et al.

NEUROLOGY (2010)

Article Medicine, General & Internal

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

Lata Vadlamudi et al.

NEW ENGLAND JOURNAL OF MEDICINE (2010)

Article Genetics & Heredity

Mosaic Trisomy 1q: The Longest Surviving Case

Chirag Patel et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)

Article Neurosciences

Equal Numbers of Neuronal and Nonneuronal Cells Make the Human Brain an Isometrically Scaled-Up Primate Brain

Frederico A. C. Azevedo et al.

JOURNAL OF COMPARATIVE NEUROLOGY (2009)

Article Biochemistry & Molecular Biology

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

Dries Castermans et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2008)

Article Psychiatry

The schizophrenia brain exhibits low-level aneuploidy involving chromosome 1

Yuri B. Yurov et al.

SCHIZOPHRENIA RESEARCH (2008)

Article Genetics & Heredity

Variation in GABA-A subunit gene copy number in an autistic patient with mosaic 4 p duplication (p12p16)

Hiroaki Kakinuma et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2008)

Article Genetics & Heredity

Unexplained autism is frequently associated with low-level mosaic aneuploidy

Y. B. Yurov et al.

JOURNAL OF MEDICAL GENETICS (2007)

Article Multidisciplinary Sciences

Strong association of de novo copy number mutations with autism

Jonathan Sebat et al.

SCIENCE (2007)

Article Genetics & Heredity

A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17

Marketa Havlovicova et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)

Article Genetics & Heredity

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas

Ophelia Maertens et al.

HUMAN MUTATION (2006)

Article Psychology, Developmental

A case of partial trisomy of chromosome 8p associated with autism

Katerina Papanikolaou et al.

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2006)

Article Biochemistry & Molecular Biology

Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy

E Genmaro et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2006)

Article Clinical Neurology

Mosaic mutations of the LIS1 gene cause subcortical band heterotopia

F Sicca et al.

NEUROLOGY (2003)

Article Genetics & Heredity

Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter → p12.2)[10]

S Sauter et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)

Article Neurosciences

Single cell lineage analysis in human focal cortical dysplasia

Y Hua et al.

CEREBRAL CORTEX (2003)

Article Psychology, Developmental

Partial tetrasomy of chromosome 3q and mosaicism in a child with autism

G Oliveira et al.

JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS (2003)

Article Genetics & Heredity

Mosaic trisomy 9 and lobar holoprosencephaly

M Gérard-Blanluet et al.

AMERICAN JOURNAL OF MEDICAL GENETICS (2002)

Article Biochemistry & Molecular Biology

Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females

VL Sheen et al.

HUMAN MOLECULAR GENETICS (2001)

Article Medicine, General & Internal

Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males

J Clayton-Smith et al.

LANCET (2000)

Article Genetics & Heredity

Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes

JG Gleeson et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2000)

Article Biochemistry & Molecular Biology

Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene

S Tinschert et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2000)