List of works - Tychele N Turner

Clinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target Genes

scientific article published on 30 July 2019

Clinical phenotype of ASD-associated DYRK1A haploinsufficiency

scientific article published on 5 October 2017

De novo genic mutations among a Chinese autism spectrum disorder cohort.

scientific article

Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

scientific article published on 23 August 2019

Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.

scientific article

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

scientific article published on 03 December 2018

Genomic Patterns of De Novo Mutation in Simplex Autism.

scientific article published on 27 September 2017

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

scientific article published on 19 June 2017

Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges.

scientific article published on 23 May 2017

Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease

scientific article published on 01 April 2019

Molecular subtyping and improved treatment of neurodevelopmental disease

scientific article published on 25 February 2016

Recent ultra-rare inherited variants implicate new autism candidate risk genes

scientific article published on 26 July 2021

Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.

scientific article published on 27 November 2017

Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders

scientific article published on 27 November 2019

Single-cell epigenomics reveals mechanisms of human cortical development

scientific article published on 06 October 2021

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

scientific article published on 13 February 2017

The Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders

scientific article published on 15 December 2018

de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project

scientific article published in 2022

denovo-db: a compendium of human de novo variants.

scientific article published on 05 October 2016

List of works by Tychele N Turner