Sentences with phrase «deciphering developmental»

The aim of the Deciphering Developmental Disorders (DDD) Study is to advance clinical genetic practice for children with developmental disorders by the systematic application of the latest microarray and sequencing methods while addressing the new ethical challenges raised.

Kramer, O. Tokan, U. Bauer, P. Daubeney, R. Abu - Sulaiman, K. Devriendt, S. Mital, B. Keavney, J. Goodship, S. Klaassen, D. Brook, M. E. Hurles, UK10K Consortium, Deciphering Developmental Disorders Study.

Here, we report a total of seven patients (six patients identified through the Wellcome Trust Deciphering Developmental Disorders study, with one additional patient), who have heterozygous de novo mutations in HNRNPU.

Here we present 19 de novo mutations in this gene, including five missense mutations, identified by the Deciphering Developmental Disorder study.

Objectives: Here, we delineate the BRPS phenotype further by describing a series of 12 previously unreported patients identified by the Deciphering Developmental Disorders study.

Trio based whole exome sequencing via the Deciphering Developmental Disorders (DDD) study has identified eleven further individuals with de novo loss of function mutations in CTNNB1.

Methods: We report 11 patients with pathogenic de novo mutations in STXBP1 identified in the first 4293 trios of the Deciphering Developmental Disorder (DDD) study, including six missense variants.

M. Hurles, The Deciphering Developmental Disorders (DDD) Study.

The Deciphering Developmental Disorders (DDD) study aims to find diagnoses for children with as yet unknown developmental diseases, and demonstrate that new genomic technologies can provide improved diagnostic tests.

Deciphering Developmental Disorders, a collaboration between the Wellcome Trust Sanger Institute, the UK Department of Health, 24 regional genetics services and more than 180 clinical geneticists, has now analysed the first 1000 children from its 12,000 - strong cohort, returning a genetic diagnosis for nearly a third of families.

In 2010 the Deciphering Developmental Disorders (DDD) study was established to find diagnoses for children with unknown developmental diseases using genomics.

Joining the hunt is a UK - based program called Deciphering Developmental Disorders, which expects to sequence 1,000 exomes by the year's end, with an ultimate goal of diagnosing up to 12,000 British children with developmental delay.

«This is a fast - changing ethical environment,» says Matt Hurles, a geneticist at the Sanger Institute and one of the leaders of Deciphering Developmental Disorders.

Not exact matches

The next challenge for the research team at the University of Helsinki is to reinforce the new findings by deciphering the fine developmental mechanisms explaining the diversity of bone structure in reptiles.

Antonio Giraldez (Yale University)-- A developmental biologist, Dr. Giraldez works on deciphering the regulatory code that shapes embryogenesis, the earliest events that occur after fertilization.

We aim to comprehensively annotate functional elements, decipher genomic codes of transcription, as well as coding and non-coding gene function during development and enhance zebrafish as an attractive developmental, comparative and disease model.

Writing in the journal Nature, the members of the Deciphering the Mechanisms of Developmental Disorders (DMDD) consortium studied 103 genetic mutations in mice that cause embryos to die before birth.

Using this, we have identified abnormalities in these structures among 298 embryos from mutant mouse lines carrying embryonic lethal gene mutations produced for the Deciphering the Mechanisms of Developmental Disorders (DMDD) programme.

Likewise, researchers have deciphered some of the conditions under which youth mentoring is most effective, as well as the types of volunteers, young people and activities that are associated with positive developmental outcomes.