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List of works by Arthur L Beaudet

A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.

scientific article published on 12 October 2017

Corrigendum: High-throughput discovery of novel developmental phenotypes.

scientific article published on 8 November 2017

Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium.

scientific article published on 26 June 2017

Erratum: Author Correction: Identification of genes required for eye development by high-throughput screening of mouse knockouts

scientific article published on 07 March 2019

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

scientific article

Human and mouse essentiality screens as a resource for disease gene discovery

scientific article published on 31 January 2020

Identification of genes required for eye development by high-throughput screening of mouse knockouts

scientific article published on 21 December 2018

Lessons learned from additional research analyses of unsolved clinical exome cases

scientific article published on 21 March 2017

Obituary: Laird Jackson

scientific article published on 07 February 2020

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

scientific article published on 29 August 2012

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

scientific article (publication date: 12 November 2009)

Reliable detection of subchromosomal deletions and duplications using cell-based noninvasive prenatal testing

scientific article published on 19 November 2018

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities

scientific article published on 27 June 2013

The Deep Genome Project

scientific article published on 03 February 2020

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

scientific article

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