List of works - August Y Huang

A model for postzygotic mosaicisms quantifies the allele fraction drift, mutation rate, and contribution to de novo mutations.

scientific article

A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth.

scientific article

ATP1A3 mosaicism in families with alternating hemiplegia of childhood

scientific article published on 03 April 2019

Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome ⬇️

scientific article published on 19 June 2015

AutismKB: an evidence-based knowledgebase of autism genetics.

scientific article published on December 2011

Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA Related Overgrowth Spectrum (PROS).

scientific article published on 12 December 2017

Confocal imaging of mouse mandibular condyle cartilage

scientific article published on 07 March 2017

Distinctive types of postzygotic single-nucleotide mosaicisms in healthy individuals revealed by genome-wide profiling of multiple organs.

scientific article

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

scientific article published on 15 November 2017

Identification of EFHD1 as a novel Ca(2+) sensor for mitoflash activation

scientific article published on 4 March 2016

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

scientific article

Parallel RNA and DNA analysis after deep sequencing (PRDD-seq) reveals cell type-specific lineage patterns in human brain

scientific article published on 10 June 2020

Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations.

scientific article

Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals

scientific article

Profiling the RNA editomes of wild-type C. elegans and ADAR mutants

scientific article

Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma

scientific article published on April 2016

Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation

scientific article

Somatic genomic changes in single Alzheimer’s disease neurons

scientific article published on 20 April 2022

Somatic mutations in intracranial arteriovenous malformations

scientific article published on 31 December 2019

Utility of quantitative micro-computed tomographic analysis in zebrafish to define gene function during skeletogenesis.

scientific article published on 2 May 2017

List of works by August Y Huang

A model for postzygotic mosaicisms quantifies the allele fraction drift, mutation rate, and contribution to de novo mutations.

A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth.

ATP1A3 mosaicism in families with alternating hemiplegia of childhood

Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome ⬇️

AutismKB: an evidence-based knowledgebase of autism genetics.

Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA Related Overgrowth Spectrum (PROS).

Confocal imaging of mouse mandibular condyle cartilage

Distinctive types of postzygotic single-nucleotide mosaicisms in healthy individuals revealed by genome-wide profiling of multiple organs.

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

Identification of EFHD1 as a novel Ca(2+) sensor for mitoflash activation

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

Parallel RNA and DNA analysis after deep sequencing (PRDD-seq) reveals cell type-specific lineage patterns in human brain

Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations.

Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals

Profiling the RNA editomes of wild-type C. elegans and ADAR mutants

Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma

Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation

Somatic genomic changes in single Alzheimer’s disease neurons

Somatic mutations in intracranial arteriovenous malformations

Utility of quantitative micro-computed tomographic analysis in zebrafish to define gene function during skeletogenesis.