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

artículo científico publicado en 2017

Corrigendum: High-throughput discovery of novel developmental phenotypes.

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2019

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

artículo científico publicado en 2016

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

artículo científico publicado en 2020

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

artículo científico publicado en 2018

Lessons learned from additional research analyses of unsolved clinical exome cases

artículo científico publicado en 2017

Obituary: Laird Jackson

scientific article published on 07 February 2020

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

artículo científico publicado en 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 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.

artículo científico publicado en 2017

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