Lista de obras - Xiaoxu Yang - Dominio Público Uruguay

"Bioinformatics: introduction and methods," a bilingual Massive Open Online Course (MOOC) as a new example for global bioinformatics education

artículo científico publicado en 2014

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

artículo científico publicado en 2018

ATP1A3 mosaicism in families with alternating hemiplegia of childhood

artículo científico publicado en 2019

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

artículo científico publicado en 2015

An expanded landscape of human long noncoding RNA

artículo científico publicado en 2019

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

artículo científico publicado en 2019

Comprehensive identification of somatic nucleotide variants in human brain tissue

artículo científico publicado en 2021

Comprehensive identification of somatic nucleotide variants in human brain tissue

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort

artículo científico publicado en 2018

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

artículo científico publicado en 2017

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

scientific article published on 17 November 2020

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

artículo científico publicado en 2017

Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly

scientific article published on 05 October 2019

Somatic LINE-1 retrotransposition in cortical neurons and non-brain tissues of Rett patients and healthy individuals

artículo científico publicado en 2019

Somatic LINE-1 retrotransposition in cortical neurons of Rett patients and healthy individuals

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

artículo científico publicado en 2019

Somatic mosaicism reveals clonal distributions of neocortical development

artículo científico publicado en 2022

Ultrasensitive and high-efficiency screen of de novo low-frequency mutations by o2n-seq.

artículo científico publicado en 2017

mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly

artículo científico publicado en 2020

Lista de obras de Xiaoxu Yang

"Bioinformatics: introduction and methods," a bilingual Massive Open Online Course (MOOC) as a new example for global bioinformatics education

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

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 ⬇️

An expanded landscape of human long noncoding RNA

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

Comprehensive identification of somatic nucleotide variants in human brain tissue

Comprehensive identification of somatic nucleotide variants in human brain tissue

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

Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort

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

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

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

Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly

Somatic LINE-1 retrotransposition in cortical neurons and non-brain tissues of Rett patients and healthy individuals

Somatic LINE-1 retrotransposition in cortical neurons of Rett patients and healthy individuals

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

Somatic mosaicism reveals clonal distributions of neocortical development

Ultrasensitive and high-efficiency screen of de novo low-frequency mutations by o2n-seq.

mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly