Emmanuel Scalais

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Markus Wolff, Katrine M. Johannesen, Ulrike B. S. Hedrich et al. · Brain · 2017 · 575 citations · Full text

Medicine, Genetics, Neurology +17

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

Lefkothea C. Papadopoulou, Carolyn M. Sue, Mercy M. Davidson et al. · Nature Genetics · 1999 · 571 citations

Life Sciences, Genetics, Molecular Genetics +10

Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency

Agata Drewniak, Roel P. Gazendam, Anton T. J. Tool et al. · Blood · 2013 · 281 citations · Full text

Life Sciences, Immunology, Microbiology +16

Genotype-phenotype correlations in <i>SCN8A</i> -related disorders reveal prognostic and therapeutic implications

Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko et al. · Brain · 2021 · 146 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

Bernard Thienpont, Frédérique Béna, Jeroen Breckpot et al. · Journal of Medical Genetics · 2009 · 123 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17