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A somatic view of the genomic impact of mitochondrial endosymbiosis

PLoS biology, 2024-08, Vol.22 (8), p.e3002756

2024

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Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmission

eLife, 2022-07, Vol.11

2022

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Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome

American journal of human genetics, 2018-08, Vol.103 (2), p.296-304

2018

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Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

American journal of human genetics, 2016-07, Vol.99 (1), p.228-235

2016

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Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

American journal of human genetics, 2016-09, Vol.99 (3), p.785-785

2016

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Sperm mosaicism: implications for genomic diversity and disease

Trends in genetics, 2021-10, Vol.37 (10), p.890-902

2021

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Tubulins and brain development – The origins of functional specification

Molecular and cellular neuroscience, 2017-10, Vol.84, p.58-67

2017

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When size matters: CHD8 in autism

Nature neuroscience, 2016-11, Vol.19 (11), p.1430-1432

2016

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Developmental and temporal characteristics of clonal sperm mosaicism

Cell, 2021-09, Vol.184 (18), p.4772-4783.e15

2021

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mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly

Epilepsia open, 2020-03, Vol.5 (1), p.97-106

2020

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Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain

Nature (London), 2024-05, Vol.629 (8011), p.384-392

2024

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Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

Nature genetics, 2018-08, Vol.50 (8), p.1093-1101

2018

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Genomic Mosaicism of the Brain: Origin, Impact, and Utility

Neuroscience bulletin, 2024-06, Vol.40 (6), p.759-776

2024

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The Evolution of the Mammalian ABCA6-like Genes: Analysis of Phylogenetic, Expression, and Population Genetic Data Reveals Complex Evolutionary Histories

Genome biology and evolution, 2020-11, Vol.12 (11), p.2093-2106

2020

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Brain-specific knockin of the pathogenic Tubb5 E401K allele causes defects in motor coordination and prepulse inhibition

Behavioural brain research, 2017-04, Vol.323, p.47-55

2017

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Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia

European journal of human genetics : EJHG, 2021-06, Vol.29 (6), p.957-964

2021

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Recurrent homozygous damaging mutation in TMX2 , encoding a protein disulfide isomerase, in four families with microlissencephaly

Journal of medical genetics, 2020-04, Vol.57 (4), p.274-282

2020

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Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability

Human molecular genetics, 2017-01, Vol.26 (2), p.258-269

2017

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Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

Nature genetics, 2023-02, Vol.55 (2), p.209-220

2023

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Biallelic loss of human CTNNA2, encoding [alpha]N-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

Nature genetics, 2018-08, Vol.50 (8), p.1093

2018

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Somatic mosaicism reveals clonal distributions of neocortical development

Nature (London), 2022-04, Vol.604 (7907), p.689-696

2022

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Control-independent mosaic single nucleotide variant detection with DeepMosaic

Nature biotechnology, 2023-06, Vol.41 (6), p.870-877

2023

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Mapping recurrent mosaic copy number variation in human neurons

Nature communications, 2024-05, Vol.15 (1), p.4220-13, Article 4220

2024

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A somatic view of the genomic impact of mitochondrial endosymbiosis

Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmission

Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

Sperm mosaicism: implications for genomic diversity and disease

Tubulins and brain development – The origins of functional specification

Autism risk in offspring can be assessed through quantification of male sperm mosaicism

When size matters: CHD8 in autism

Developmental and temporal characteristics of clonal sperm mosaicism

mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly

Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

Genomic Mosaicism of the Brain: Origin, Impact, and Utility

The Evolution of the Mammalian ABCA6-like Genes: Analysis of Phylogenetic, Expression, and Population Genetic Data Reveals Complex Evolutionary Histories

Brain-specific knockin of the pathogenic Tubb5 E401K allele causes defects in motor coordination and prepulse inhibition

Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia

Recurrent homozygous damaging mutation in TMX2 , encoding a protein disulfide isomerase, in four families with microlissencephaly

Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability

Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

Biallelic loss of human CTNNA2, encoding [alpha]N-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

Somatic mosaicism reveals clonal distributions of neocortical development

Control-independent mosaic single nucleotide variant detection with DeepMosaic

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

Mapping recurrent mosaic copy number variation in human neurons

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