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Somatic mosaicism and neurodevelopmental disease
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Europe PubMed Central
PubMed ID
30349109
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30349109%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 April 2020
title
Somatic mosaicism and neurodevelopmental disease
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
30349109
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30349109%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 April 2020
main subject
neurodevelopmental disorder
1 reference
based on heuristic
inferred from title
author
Christopher A. Walsh
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
30349109
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30349109%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 April 2020
author name string
Alissa M D'Gama
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
30349109
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30349109%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 April 2020
language of work or name
English
0 references
publication date
22 October 2018
1 reference
stated in
Europe PubMed Central
PubMed ID
30349109
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30349109%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 April 2020
published in
Nature Neuroscience
1 reference
stated in
Europe PubMed Central
PubMed ID
30349109
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30349109%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 April 2020
volume
21
1 reference
stated in
Europe PubMed Central
PubMed ID
30349109
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30349109%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 April 2020
issue
11
1 reference
stated in
Europe PubMed Central
PubMed ID
30349109
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30349109%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 April 2020
page(s)
1504-1514
1 reference
stated in
Europe PubMed Central
PubMed ID
30349109
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30349109%20AND%20SRC:MED&resulttype=core&format=json
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29 April 2020
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Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy
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Germline and mosaic mutations of FLN1 in men with periventricular heterotopia
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Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia.
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Mosaic mutations of the LIS1 gene cause subcortical band heterotopia
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Somatic mutations in cerebral cortical malformations
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Somatic activation of AKT3 causes hemispheric developmental brain malformations
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Single cell lineage analysis in human focal cortical dysplasia.
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Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery
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PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia
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De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly
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Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy.
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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
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Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia
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Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia
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Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations.
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Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.
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Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.
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Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain
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An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development
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Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy
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A mouse model of DEPDC5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility.
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De novo mutations in epileptic encephalopathies
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Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
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Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females
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Exome sequencing reveals new causal mutations in children with epileptic encephalopathies
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KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
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High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.
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Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature.
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Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy
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GABAergic interneuron development and function is modulated by the Tsc1 gene
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DSM-5
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Autism as a strongly genetic disorder: evidence from a British twin study
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A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden
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Synaptic, transcriptional and chromatin genes disrupted in autism
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The contribution of de novo coding mutations to autism spectrum disorder
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De Novo Gene Disruptions in Children on the Autistic Spectrum
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Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders
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based on heuristic
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Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders
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based on heuristic
inferred from DOI database lookup
Patterns and rates of exonic de novo mutations in autism spectrum disorders
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Functional impact of global rare copy number variation in autism spectrum disorders
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Strong association of de novo copy number mutations with autism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Using whole-exome sequencing to identify inherited causes of autism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
High rate of mosaicism in tuberous sclerosis complex
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Variation in GABA-A subunit gene copy number in an autistic patient with mosaic 4 p duplication (p12p16).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Germline mosaic transmission of a novel duplication of PXDN and MYT1L to two male half-siblings with autism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Partial tetrasomy of chromosome 3q and mosaicism in a child with autism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A case of partial trisomy of chromosome 8p associated with autism.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter --> p12.2)[10].
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Unexplained autism is frequently associated with low-level mosaic aneuploidy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Prioritization of neurodevelopmental disease genes by discovery of new mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A genotype resource for postmortem brain samples from the Autism Tissue Program
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Focal cortical dysplasias in autism spectrum disorders
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Patches of disorganization in the neocortex of children with autism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic studies in intellectual disability and related disorders
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genome sequencing identifies major causes of severe intellectual disability
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mosaic structural variation in children with developmental disorders
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The genetic epidemiology of schizophrenia in a Finnish twin cohort. A population-based modeling study
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The schizophrenia brain exhibits low-level aneuploidy involving chromosome 1.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Multicolor fluorescent in situ hybridization on post-mortem brain in schizophrenia as an approach for identification of low-level chromosomal aneuploidy in neuropsychiatric diseases.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Assessment of copy number variations in the brain genome of schizophrenia patients.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mosaic copy number variation in schizophrenia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Increased l1 retrotransposition in the neuronal genome in schizophrenia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Analysis of LINE-1 Elements in DNA from Postmortem Brains of Individuals with Schizophrenia.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical whole-exome sequencing for the diagnosis of mendelian disorders
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Integrated genome and transcriptome sequencing of the same cell
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
In situ single-cell analysis identifies heterogeneity for PIK3CA mutation and HER2 amplification in HER2-positive breast cancer
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
FOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum Disorders
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
iPhemap: an atlas of phenotype to genotype relationships of human iPSC models of neurological diseases
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Misleading linkage results in an NF2 presymptomatic test owing to mosaicism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic Severity Score predicts clinical phenotype in NF2.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Megapixel digital PCR.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Rapid amplification of plasmid and phage DNA using Phi 29 DNA polymerase and multiply-primed rolling circle amplification
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genome-wide detection of single-nucleotide and copy-number variations of a single human cell
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
L1-associated genomic regions are deleted in somatic cells of the healthy human brain.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Resolving rates of mutation in the brain using single-neuron genomics
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Ubiquitous L1 mosaicism in hippocampal neurons
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Massively parallel polymerase cloning and genome sequencing of single cells using nanoliter microwells
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FS41593-018-0257-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/S41593-018-0257-3
1 reference
stated in
Europe PubMed Central
PubMed ID
30349109
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30349109%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 April 2020
PubMed ID
30349109
1 reference
stated in
Europe PubMed Central
PubMed ID
30349109
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30349109%20AND%20SRC:MED&resulttype=core&format=json
retrieved
29 April 2020
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