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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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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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Applications of Single-Cell DNA Sequencing

Annual review of genomics and human genetics, 2021-08, Vol.22 (1), p.171-197

2021

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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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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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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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One brain, many genomes

Science (American Association for the Advancement of Science), 2016-11, Vol.354 (6312), p.557-558

Evrony, Gilad D.

2016

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

eLife, 2016-02, Vol.5

2016

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Microcephaly Gene Links Trithorax and REST/NRSF to Control Neural Stem Cell Proliferation and Differentiation

Cell, 2012-11, Vol.151 (5), p.1097-1112

2012

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Single duplex DNA sequencing with CODEC detects mutations with high sensitivity

Nature genetics, 2023-05, Vol.55 (5), p.871-879

2023

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Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndrome

Human molecular genetics, 2023-04, Vol.32 (9), p.1552-1564

2023

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Serial enrichment of heteroduplex DNA using a MutS‐magnetic bead system

Biotechnology journal, 2023-01, Vol.18 (1), p.e2200323-n/a

2023

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Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning

Science (American Association for the Advancement of Science), 2014-02, Vol.343 (6172), p.764-768

2014

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Pangenome graphs improve the analysis of structural variants in rare genetic diseases

Nature communications, 2024-01, Vol.15 (1), p.657-657, Article 657

2024

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DNA mismatch and damage patterns revealed by single-molecule sequencing

Nature (London), 2024-06, Vol.630 (8017), p.752-761

2024

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An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

American journal of human genetics, 2022-10, Vol.109 (10), p.1867-1884

2022

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

Cell reports (Cambridge), 2015-02, Vol.10 (4), p.645-645

2015

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DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients

European journal of human genetics : EJHG, 2020-01, Vol.28 (1), p.64-75

2020

Volltextzugriff (PDF)

Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort

Nature communications, 2023-05, Vol.14 (1), p.3090-3090, Article 3090

2023

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Tetanus toxin C fragment-conjugated nanoparticles for targeted drug delivery to neurons

Biomaterials, 2007-12, Vol.28 (34), p.5176-5184

2007

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Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis

Molecular genetics & genomic medicine, 2020-10, Vol.8 (10), p.e1405-n/a

2020

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Loss of PCLO function underlies pontocerebellar hypoplasia type III

Neurology, 2015-04, Vol.84 (17), p.1745

2015

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

Somatic Mutation, Genomic Variation, and Neurological Disease

Applications of Single-Cell DNA Sequencing

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

Cell lineage analysis in human brain using endogenous retroelements

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

Somatic mutation in single human neurons tracks developmental and transcriptional history

One brain, many genomes

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

Microcephaly Gene Links Trithorax and REST/NRSF to Control Neural Stem Cell Proliferation and Differentiation

Single duplex DNA sequencing with CODEC detects mutations with high sensitivity

Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndrome

Serial enrichment of heteroduplex DNA using a MutS‐magnetic bead system

Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning

Pangenome graphs improve the analysis of structural variants in rare genetic diseases

Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome

DNA mismatch and damage patterns revealed by single-molecule sequencing

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

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

DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients

Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort

Tetanus toxin C fragment-conjugated nanoparticles for targeted drug delivery to neurons

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis

Loss of PCLO function underlies pontocerebellar hypoplasia type III

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