Joanne E. Martin

A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome

Jacky Guy, Brian Hendrich, Megan C. Holmes et al. · Nature Genetics · 2001 · 1.6K citations

Life Sciences, Genetics, Neuroscience +14

Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment

Derek C. Rogers, Elizabeth Fisher, Steve D. M. Brown et al. · Mammalian Genome · 1997 · 803 citations

Life Sciences, Behavioral Sciences, Genetics +11

Mutations in Dynein Link Motor Neuron Degeneration to Defects in Retrograde Transport

Majid Hafezparast, Rainer Klocke, Christiana Ruhrberg et al. · Science · 2003 · 688 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Inflammatory Skin and Bowel Disease Linked to<i>ADAM17</i>Deletion

Diana C. Blaydon, Paolo Biancheri, Wei‐Li Di et al. · New England Journal of Medicine · 2011 · 310 citations · Full text

Medicine, Molecular Genetics, Pathology +17

The London Classification of gastrointestinal neuromuscular pathology: report on behalf of the Gastro 2009 International Working Group

Charles H. Knowles, Roberto De Giorgio, Raj P. Kapur et al. · Gut · 2010 · 300 citations

Medicine, Neurology, Pathology +13