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

Control-independent mosaic single nucleotide variant detection with DeepMosaic

(2023) Xiaoxu Yang et al.   NATURE BIOTECHNOLOGY

Somatic variants in diverse genes leads to a spectrum of focal cortical malformations

(2022) Dulcie Lai et al.   BRAIN

Somatic mosaicism reveals clonal distributions of neocortical development

(2022) Martin W. Breuss et al.   NATURE

Detection of brain somatic variation in epilepsy‐associated developmental lesions

(2022) Tracy A. Bedrosian et al.   EPILEPSIA

Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability

(2022) Taejeong Bae et al.   SCIENCE

Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia

(2021) Wei Shern Lee et al.   Annals of Clinical and Translational Neurology

Developmental and temporal characteristics of clonal sperm mosaicism

(2021) Xiaoxu Yang et al.   CELL

The repertoire of mutational signatures in human cancer

(2020) Ludmil B. Alexandrov et al.   NATURE

Accurate detection of mosaic variants in sequencing data without matched controls

(2020) Yanmei Dou et al.   NATURE BIOTECHNOLOGY

Precise detection of low-level somatic mutation in resected epilepsy brain tissue

(2019) Nam Suk Sim et al.   ACTA NEUROPATHOLOGICA

Dissecting the genetic basis of focal cortical dysplasia: a large cohort study

(2019) Sara Baldassari et al.   ACTA NEUROPATHOLOGICA

Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy

(2019) Cristiana Pelorosso et al.   HUMAN MOLECULAR GENETICS

Brain somatic mutations in MTOR reveal translational dysregulations underlying intractable focal epilepsy

(2019) Jang Keun Kim et al.   JOURNAL OF CLINICAL INVESTIGATION

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

(2019) Martin W. Breuss et al.   NATURE MEDICINE

TBR2 antagonizes retinoic acid dependent neuronal differentiation by repressing Zfp423 during corticogenesis

(2018) Luca Massimino et al.   DEVELOPMENTAL BIOLOGY

TNF-α-Induced NOD2 and RIP2 Contribute to the Up-Regulation of Cytokines Induced by MDP in Monocytic THP-1 Cells

(2018) Xiaobin Chen et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

KLHL22 activates amino-acid-dependent mTORC1 signalling to promote tumorigenesis and ageing

(2018) Jie Chen et al.   NATURE

Strelka2: fast and accurate calling of germline and somatic variants

(2018) Sangtae Kim et al.   NATURE METHODS

Mutalisk: a web-based somatic MUTation AnaLyIS toolKit for genomic, transcriptional and epigenomic signatures

(2018) Jongkeun Lee et al.   NUCLEIC ACIDS RESEARCH

SLC35A2-related congenital disorder of glycosylation: Defining the phenotype

(2018) T. Michael Yates et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

GRIN2A-related disorders: genotype and functional consequence predict phenotype

(2018) Vincent Strehlow et al.   BRAIN

Calcium activated nucleotidase 1 (CANT1) is critical for glycosaminoglycan biosynthesis in cartilage and endochondral ossification

(2018) Chiara Paganini et al.   MATRIX BIOLOGY

Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity

(2018) Bradley P. Coe et al.   NATURE GENETICS

STRING v11: protein–protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets

(2018) Damian Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

COSMIC: the Catalogue Of Somatic Mutations In Cancer

(2018) John G Tate et al.   NUCLEIC ACIDS RESEARCH

Hybrid Structure of the RagA/C-Ragulator mTORC1 Activation Complex

(2017) Ming-Yuan Su et al.   MOLECULAR CELL

Nipbl Interacts with Zfp609 and the Integrator Complex to Regulate Cortical Neuron Migration

(2017) Debbie L.C. van den Berg et al.   NEURON

MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples

(2017) August Yue Huang et al.   NUCLEIC ACIDS RESEARCH

Spatiotemporal gene expression trajectories reveal developmental hierarchies of the human cortex

(2017) Tomasz J. Nowakowski et al.   SCIENCE

Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort

(2017) Xiaoxu Yang et al.   Scientific Reports

Regulation of mTORC1 by lysosomal calcium and calmodulin

(2016) Ruo-Jing Li et al.   eLife

Excess of rare, inherited truncating mutations in autism

(2015) Niklas Krumm et al.   NATURE GENETICS

Malformations of Cortical Development and Epilepsy

(2015) A. J. Barkovich et al.   Cold Spring Harbor Perspectives in Medicine

The Fibroblast Growth Factor signaling pathway

(2015) David M. Ornitz et al.   Wiley Interdisciplinary Reviews-Developmental Biology

Neuronal calcium signaling: function and dysfunction

(2014) Marisa Brini et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

NMDA receptor subunit diversity: impact on receptor properties, synaptic plasticity and disease

(2013) Pierre Paoletti et al.   NATURE REVIEWS NEUROSCIENCE

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

(2012) Yawei J. Yang et al.   CELL

Molecular Pathways: Dysregulated Glutamatergic Signaling Pathways in Cancer

(2012) T. D. Prickett et al.   CLINICAL CANCER RESEARCH

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

(2012) Jeong Ho Lee et al.   NATURE GENETICS

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

(2012) Annapurna Poduri et al.   NEURON

Primer3—new capabilities and interfaces

(2012) Andreas Untergasser et al.   NUCLEIC ACIDS RESEARCH

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Neuroimaging in identifying focal cortical dysplasia and prognostic factors in pediatric and adolescent epilepsy surgery

(2011) Yoon Hee Kim et al.   EPILEPSIA

RNAscope

(2011) Fay Wang et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia

(2011) J Tarabeux et al.   Translational Psychiatry

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

Accumulation of driver and passenger mutations during tumor progression

(2010) I. Bozic et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ClueGO: a Cytoscape plug-in to decipher functionally grouped gene ontology and pathway annotation networks

(2009) Gabriela Bindea et al.   BIOINFORMATICS

Calcium signaling and neurodegenerative diseases

(2009) Ilya Bezprozvanny   TRENDS IN MOLECULAR MEDICINE

mTOR signaling: At the crossroads of plasticity, memory and disease

(2009) Charles A. Hoeffer et al.   TRENDS IN NEUROSCIENCES

Different features of histopathological subtypes of pediatric focal cortical dysplasia

(2008) Pavel Krsek et al.   ANNALS OF NEUROLOGY

WGCNA: an R package for weighted correlation network analysis

(2008) Peter Langfelder et al.   BMC BIOINFORMATICS