G. Evrony

发表

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

C. Walsh, P. Park, E. Lee, 2012, Cell.

Somatic Mutation, Genomic Variation, and Neurological Disease

C. Walsh, A. Poduri, G. Evrony, 2013, Science.

Cell Lineage Analysis in Human Brain Using Endogenous Retroelements

C. Walsh, Y. Benjamini, P. Park, 2015, Neuron.

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

Annapurna Poduri, Christopher A. Walsh, C. Walsh, 2014, Cell reports.

Somatic mutation in single human neurons tracks developmental and transcriptional history

Peter J. Park, Eunjung Lee, Thomas W. Chittenden, 2015, Science.

Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function

J. Orange, M. Merad, B. Gelb, 2020, Immunity.

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

Michael E. Coulter, C. Walsh, S. Wiemann, 2017, Genome research.

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

U. Brinkmann, B. Gelb, B. Webb, 2020, European Journal of Human Genetics.

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

Naomi Yachelevich, K. Henriksen, G. Evrony, 2020, Molecular genetics & genomic medicine.

Loss of PCLO function underlies pontocerebellar hypoplasia type III

M. Hurles, C. Walsh, M. Patton, 2015, Neurology.

Applications of Single-Cell DNA Sequencing.

C. Luo, G. Evrony, A. Hinch, 2021, Annual review of genomics and human genetics.

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

Rebecca C. Spillmann, C. Cytrynbaum, R. Weksberg, 2022, American journal of human genetics.

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

Robert Langer, F. Gu, R. Langer, 2007, Biomaterials.

WP744, a novel highly apoptotic and antiproliferative agent against STI-571-resistant leukemic cells

N. Donato, M. Talpaz, Sangkyou Lee, 2003 .

OUTLINE “ Obligatory ” Somatic Mosaic Disorders ? How Do Somatic Mutations Manifest as Neurological Disease ? “ Second Hit ”

C. Walsh, A. Poduri, G. Evrony, 2013 .

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

C. Walsh, P. Park, E. Lee, 2016, eLife.

Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain.

Annapurna Poduri, Christopher A Walsh, C. Walsh, 2015, Cell reports.

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

Maria K. Lehtinen, C. Walsh, R. Beroukhim, 2012, Neuron.

METTL23, a transcriptional partner of GABPA, is essential for human cognition.

Michael E. Coulter, C. Walsh, C. Schubert, 2014, Human molecular genetics.

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

C. Walsh, J. Golden, H. Samuels, 2012, Cell.

Single-strand mismatch and damage patterns revealed by single-molecule DNA sequencing

Rachel C. Bandler, Jonathan E. Shoag, T. Pastinen, 2023, bioRxiv.

One brain, many genomes

G. Evrony, 2016, Science.

A PIECE OF MY MIND. A Wild Rotation.

G. Evrony, 2016, JAMA.

Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning

P. Ellen Grant, Hideyuki Okano, Kiho Im, 2014, Science.

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

G. Evrony, Z. R. Murphy, Danielle A Shields, 2022, Biotechnology journal.

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

U. Brinkmann, B. Gelb, B. Webb, 2019, European Journal of Human Genetics.

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

C. Walsh, P. Bauer, A. Barkovich, 2021, Genetics in Medicine.

Local Hosts and Organizing Committee

Lovelace J. Luquette, C. Walsh, P. Park, 2015 .

Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Transcriptional and Biochemical Function

J. Orange, M. Merad, B. Gelb, 2019, bioRxiv.

Single duplex DNA sequencing with CODEC detects mutations with high sensitivity

Jonathan E. Shoag, T. Golub, S. Tabrizi, 2023, Nature Genetics.

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

E. Lee, A. Poduri, G. Evrony, 2012, Cell.

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

U. Brinkmann, B. Gelb, B. Webb, 2019, European Journal of Human Genetics.