Integrated Genetic Approaches in Therapeutic Discovery for Rare Diseases

Improvement of maternal and newborn health through midwifery

Petra ten Hoope‐Bender, Luc de Bernis, James Campbell et al. · The Lancet · 2014 · 441 citations

Public Health, Maternal Health, Obstetrics +12

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Emily C. Oates, Kristi Jones, Sandra Donkervoort et al. · Annals of Neurology · 2018 · 164 citations · Full text

Medicine, Molecular Genetics, Pathology +13

Natural history of <scp>LGMD</scp>2A for delineating outcome measures in clinical trials

Jean‐Yves Hogrel, Daniel Stockholm, Christine Payan et al. · Annals of Clinical and Translational Neurology · 2016 · 79 citations · Full text

Medicine, Neurology, Pathology +15

A comparison of AAV strategies distinguishes overlapping vectors for efficient systemic delivery of the 6.2 kb Dysferlin coding sequence

Marina Pryadkina, William Lostal, Nathalie Bourg et al. · Molecular Therapy — Methods & Clinical Development · 2015 · 51 citations · Full text

Life Sciences, Biotechnology, Molecular Biology +17

AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression

Evelyne Gicquel, Natacha Maizonnier, Steven Foltz et al. · Human Molecular Genetics · 2017 · 47 citations · Full text

Life Sciences, Genetics, Gene Expression +13