Élise Schaefer

New perspectives on community-acquired pneumonia in 388 406 patients. Results from a nationwide mandatory performance measurement programme in healthcare quality

Santiago Ewig, Norbert Birkner, Élise Schaefer et al. · Thorax · 2009 · 407 citations · Full text

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

Marie Vincent, David Geneviève, Agnès Ostertag et al. · Genetics in Medicine · 2015 · 159 citations

Large Series, Collins Syndrome, Molecular Study +1

Defining the phenotypic spectrum of <i>SLC6A1</i> mutations

Katrine M. Johannesen, Elena Gardella, Tarja Linnankivi et al. · Epilepsia · 2018 · 146 citations · Full text

Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit <i>BBIP1</i> (<i>BBS18</i>)

Sophie Scheidecker, Christelle Etard, Nathan W. Pierce et al. · Journal of Medical Genetics · 2013 · 137 citations · Full text

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

Johann Böhm, Valérie Biancalana, Elizabeth T. DeChene et al. · Human Mutation · 2012 · 135 citations · Full text

Peripheral Neuropathy, Mendelian Disorder, Autoimmune Disease +15