Genes Phenotypes Help, News, Blog

Exploring the therapeutic potential of CRISPR/Cas9 for the treatment of PelizaeusMerzbacher Disease

ASHG 2018 Annual Meeting – research using mouse models Guest post by Eleonora Maino (ASHG poster: Wednesday 2-3pm, poster number 1107)…

Published: 17 Oct 2018

One size fits all: Transcriptional upregulation of a disease modifier gene as a mutation-independent approach in muscular dystrophy

ASHG 2018 Annual Meeting – research using mouse models Guest post by Dwi Kemaladewi (ASHG talk: Wednesday, 6:15pm - 6:30pm in Room 6F)…

Published: 17 Oct 2018

RERE deficiency leads to downregulation of Gata4 and the development of ventricular septal defects

ASHG 2018 Annual Meeting – research using mouse models Guest post by Bum-Jun Kim (ASHG talk: Wednesday, 4:30pm - 4:45pm in…

Published: 17 Oct 2018

Qsox1 is a novel genetic determinant of bone size in mice

ASHG 2018 Annual Meeting – research using mouse models Guest post by Basel Al-Barghouthi (ASHG talk: Wed Oct 17, 9:15am -…

Published: 17 Oct 2018

Mouse models allow for in-depth in vivo analysis of bone healing in the common genetic bone dysplasia, Osteogenesis Imperfecta

ASHG 2018 Annual Meeting – research using mouse models Guest post by Jennifer Zieba Osteogenesis Imperfecta (OI) is the most…

Published: 17 Oct 2018

Using Exomiser for rare disease variant interpretation at scale in the 100,000 Genomes Project

ASHG 2018 Annual Meeting – research using mouse models Damian Smedley will give a talk on Wednesday from 9:30am to…

Published: 17 Oct 2018

Leveraging human and mouse genetics to identify novel bone genes

ASHG 2018 Annual Meeting - research using mouse models Guest post by John Morris (ASHG talk: Wed Oct 17, 9:00am - 9:15am…

Published: 11 Oct 2018

Connexin 47 gain-of function CRISPR mouse model

ASHG 2018 Annual Meeting – research using mouse models Guest post by Robert Erickson (ASHG poster: Wed Oct 17th, 2:00pm…

Published: 11 Oct 2018

IMPC at ASHG 2018

We are excited to be attending the the ASHG 2018 Annual Meeting in San Diego next week. We are looking forward to…

Published: 10 Oct 2018

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