Anna L. Mitchell

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , which Encode Subcomponents C1r and C1s of Complement

Ines Kapferer‐Seebacher, Melanie Pepin, Roland Werner et al. · The American Journal of Human Genetics · 2016 · 119 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB

Andreas Zankl, Emma L. Duncan, Paul Leo et al. · The American Journal of Human Genetics · 2012 · 114 citations · Full text

Medicine, Genetics, Molecular Biology +10

Regions of homozygosity identified by SNP microarray analysis aid in the diagnosis of autosomal recessive disease and incidentally detect parental blood relationships

Kristen L. Sund, Sarah Zimmerman, Cameron Thomas et al. · Genetics in Medicine · 2012 · 90 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations

Ellen S. Regalado, Lauren Mellor-Crummey, Julie De Backer et al. · Genetics in Medicine · 2018 · 84 citations · Full text

Medicine, Cardiology, Pediatrics +16

An Xp; Yq Translocation Causing a Novel Contiguous Gene Syndrome in Brothers with Generalized Epilepsy, Ichthyosis, and Attention Deficits

Michael J. Doherty, Ian A. Glass, Craig L. Bennett et al. · Epilepsia · 2003 · 45 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17