about
Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individualsMosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples.Profiling the RNA editomes of wild-type C. elegans and ADAR mutants.AutismKB: an evidence-based knowledgebase of autism genetics.Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital HemangiomaAmplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome.Confocal imaging of mouse mandibular condyle cartilage.Utility of quantitative micro-computed tomographic analysis in zebrafish to define gene function during skeletogenesis.A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth.Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation.Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations.Identification of EFHD1 as a novel Ca(2+) sensor for mitoflash activation.Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort.Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA Related Overgrowth Spectrum (PROS).Distinctive types of postzygotic single-nucleotide mosaicisms in healthy individuals revealed by genome-wide profiling of multiple organs.A model for postzygotic mosaicisms quantifies the allele fraction drift, mutation rate, and contribution to de novo mutations.Somatic mutations in intracranial arteriovenous malformationsATP1A3 mosaicism in families with alternating hemiplegia of childhoodParallel RNA and DNA analysis after deep sequencing (PRDD-seq) reveals cell type-specific lineage patterns in human brain
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description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
August Y Huang
@ast
August Y Huang
@en
August Y Huang
@es
August Y Huang
@nl
type
label
August Y Huang
@ast
August Y Huang
@en
August Y Huang
@es
August Y Huang
@nl
prefLabel
August Y Huang
@ast
August Y Huang
@en
August Y Huang
@es
August Y Huang
@nl
P106
P2456
P31
P496
0000-0002-0416-2854