引用次数
引用: 4,036
H-指数: 17
I10-指数 : 20
出版物: 32
Applications of Single-Cell DNA Sequencing.
Gilad D Evrony , Anjali Gupta Hinch , Chongyuan Luo ,
Annual Review of Genomics and Human Genetics 22 ( 1)
19
2021
Resolving rates of mutation in the brain using single-neuron genomics
Gilad D Evrony , Eunjung Lee , Peter J Park , Christopher A Walsh
eLife 5
114
2016
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
Sanaa Choufani , Vanda McNiven , Cheryl Cytrynbaum , Maryam Jangjoo
The American Journal of Human Genetics 109 ( 10) 1867 -1884
2
2022
Single-strand mismatch and damage patterns revealed by single-molecule DNA sequencing
Mei Hong Liu , Benjamin Costa , Una Choi , Rachel C Bandler
bioRxiv
2023
Single duplex DNA sequencing with CODEC detects mutations with high sensitivity
Jin H Bae , Ruolin Liu , Eugenia Roberts , Erica Nguyen
Nature Genetics 55 ( 5) 871 -879
20
2023
Ultra-Rapid Droplet Digital PCR Enables Intraoperative Tumor Quantification
Zachary R Murphy , Emilia C Bianchini , Andrew Smith , Lisa I Körner
medRxiv 2024.05. 29.24308126 -2024.05. 29.24308126
2024
DNA mismatch and damage patterns revealed by single-molecule sequencing
Mei Hong Liu , Benjamin M Costa , Emilia C Bianchini , Una Choi
Nature 1 -10
2024
Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndrome
Midhat Rizvi , Tina K Truong , Janet Zhou , Manav Batta
Human Molecular Genetics 32 ( 9) 1552 -1564
1
2023
Loss of PCLO function underlies pontocerebellar hypoplasia type III
Mustafa Y Ahmed , Barry A Chioza , Anna Rajab , Klaus Schmitz-Abe
Neurology 84 ( 17) 1745 -1750
32
2015
High-fidelity, large-scale targeted profiling of microsatellites
Caitlin A Loh , Danielle A Shields , Adam Schwing , Gilad D Evrony
Genome Research gr. 278785.123 -gr. 278785.123
2024
Serial enrichment of heteroduplex DNA using a MutS‐magnetic bead system
Zachary R Murphy , Danielle A Shields , Gilad D Evrony
Biotechnology Journal 18 ( 1) 2200323 -2200323
2023
A Wild Rotation
Gilad D. Evrony
JAMA 316 ( 7) 713 -714
3
2016
Tetanus toxin C fragment conjugated nanoparticles for targeted drug delivery to neurons
Seth A. Townsend , Gilad D. Evrony , Frank X. Gu , Martin P. Schulz
Biomaterials 28 ( 34) 5176 -5184
88
2007
Somatic mutation in single human neurons tracks developmental and transcriptional history.
Michael A. Lodato , Mollie B. Woodworth , Semin Lee , Gilad D. Evrony
Science 350 ( 6256) 94 -98
526
2015
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome
Gilad D. Evrony , Dwight R. Cordero , Jun Shen , Jennifer N. Partlow
Genome Research 27 ( 8) 1323 -1335
24
2017
Somatic Mutation, Genomic Variation, and Neurological Disease
Annapurna Poduri , Gilad D. Evrony , Xuyu Cai , Christopher A. Walsh
Science 341 ( 6141) 1237758 -1237758
557
2013
DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.
Roser Urreizti , Klaus Mayer , Gilad D. Evrony , Edith Said
European Journal of Human Genetics 28 ( 1) 64 -75
5
2020
METTL23, a Transcriptional Partner of GABPA, Is Essential for Human Cognition
Rachel E. Reiff , Bassam R. Ali , Byron Baron , Timothy W. Yu
Human Molecular Genetics 23 ( 13) 3456 -3466
2014
Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis.
Odelia Chorin , Naomi Yachelevich , Khaled Mohamed , Ilana Moscatelli
Molecular Genetics & Genomic Medicine 8 ( 10)
2
2020
Cell Lineage Analysis in Human Brain Using Endogenous Retroelements
Gilad D. Evrony , Eunjung Lee , Bhaven K. Mehta , Yuval Benjamini
Neuron 85 ( 1) 49 -59
170
2015