Dustin Baldridge

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

Yasemin Alanay, Hrispima Avaygan, Natalia Camacho et al. · The American Journal of Human Genetics · 2010 · 319 citations · Full text

Medicine, Genetics, Molecular Genetics +9

<i>CRTAP</i>and<i>LEPRE1</i>mutations in recessive osteogenesis imperfecta

Dustin Baldridge, Ulrike Schwarze, Roy Morello et al. · Human Mutation · 2008 · 209 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Mutations in <i>FKBP10</i> cause recessive osteogenesis imperfecta and bruck syndrome

Brian Kelley, Fransiska Malfait, Luisa Bonafé et al. · Journal of Bone and Mineral Research · 2010 · 191 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease

Ian D. Krantz, Līvija Medne, Jamila Weatherly et al. · JAMA Pediatrics · 2021 · 173 citations · Full text

Life Sciences, Genetics, Pediatrics +17

Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Michael F. Wangler, Claudia Gonzaga‐Jauregui, Tomasz Gambin et al. · PLoS Genetics · 2014 · 142 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17