✦ LIBER ✦

Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia

✍ Scribed by Yu, L.; Bennett, J. T.; Wynn, J.; Carvill, G. L.; Cheung, Y. H.; Shen, Y.; Mychaliska, G. B.; Azarow, K. S.; Crombleholme, T. M.; Chung, D. H.; Potoka, D.; Warner, B. W.; Bucher, B.; Lim, F.-Y.; Pietsch, J.; Stolar, C.; Aspelund, G.; Arkovitz, M. S.; Mefford, H.; Chung, W. K.

Book ID: 121881566
Publisher: BMJ Publishing Group
Year: 2014
Tongue: English
Weight: 874 KB
Volume: 51
Category: Article
ISSN: 0022-2593
DOI: 10.1136/jmedgenet-2013-101989

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

De novo mutations revealed by whole-exom

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

✍ Sanders, Stephan J.; Murtha, Michael T.; Gupta, Abha R.; Murdoch, John D.; Raube 📂 Article 📅 2012 🏛 Nature Publishing Group 🌐 English ⚖ 780 KB

Whole-exome sequencing identifies ALMS1,

Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with leber congenital amaurosis

✍ Xia Wang; Hui Wang; Ming Cao; Zhe Li; Xianfeng Chen; Claire Patenia; Athurva Gor 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 427 KB

It has been well documented that mutations in the same retinal disease gene can result in different clinical phenotypes due to difference in the mutant allele and/or genetic background. To evaluate this, a set of consanguineous patient families with Leber congenital amaurosis (LCA) that do not carry

Whole-Exome Sequencing Identifies Mutati

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

✍ Isabelle Audo; Kinga Bujakowska; Elise Orhan; Charlotte M. Poloschek; Sabine Def 📂 Article 📅 2012 🏛 American Society of Human Genetics 🌐 English ⚖ 828 KB

Whole-Exome Sequencing Identifies Mutati

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

✍ Isabelle Audo; Kinga Bujakowska; Elise Orhan; Charlotte M. Poloschek; Sabine Def 📂 Article 📅 2012 🏛 American Society of Human Genetics 🌐 English ⚖ 37 KB

Heterozygous de-novo mutations in ATP1A3

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study

✍ Hendrik Rosewich; Holger Thiele; Andreas Ohlenbusch; Ulrike Maschke; Janine Altm 📂 Article 📅 2012 🏛 The Lancet 🌐 English ⚖ 156 KB