Diana Johnson

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

Louise S. Bicknell, Sarah Walker, Anna Klingseisen et al. · Nature Genetics · 2011 · 208 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

A Course-Based Research Experience: How Benefits Change with Increased Investment in Instructional Time

C. Shaffer, Consuelo J. Alvarez, April E. Bednarski et al. · CBE—Life Sciences Education · 2014 · 183 citations · Full text

Education, Higher Education, Science Education +15

Mutations in <i>CHD7</i> in patients with CHARGE syndrome cause T–B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome

Andrew R. Gennery, Mary Slatter, Jason Rice et al. · Clinical & Experimental Immunology · 2008 · 120 citations · Full text

Life Sciences, Genetics, Immunology +15

A Central Support System Can Facilitate Implementation and Sustainability of a Classroom-Based Undergraduate Research Experience (CURE) in Genomics

David Lopatto, Charles R. Hauser, Christopher J. Jones et al. · CBE—Life Sciences Education · 2014 · 90 citations · Full text

Education, Curriculum, Science Education +9

Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

Jennie Murray, Louise S. Bicknell, Gökhan Yigit et al. · Human Mutation · 2013 · 86 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17