Concepedia
Statistics
Publications
5
Citations
741
H-Index
Active since
2015
Affiliations
Institute of Pathology and Genetics(Current)
KU Leuven
University of Southern Denmark
Centre National de la Recherche Scientifique
Ghent University Hospital
Sandrine Mary is an author at Institute of Pathology and Genetics specializing in genetics, medicine, and neurology.
Publications per year
2015–2023
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
<i>FOXP1</i>-related intellectual disability syndrome: a recognisable entity
Ilse Meerschaut, Daniel Rochefort, Nicole Revençu et al. · Journal of Medical Genetics · 2017 · 80 citations · Full text
Medicine, Genetics, Molecular Genetics +17
Gain-of-function <i>GABRB3</i> variants identified in vigabatrin-hypersensitive epileptic encephalopathies
Nathan L. Absalom, Vivian W. Y. Liao, Kavitha Kothur et al. · Brain Communications · 2020 · 35 citations · Full text
Medicine, Neurobiology, Neurology +17
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
Burcu Yaldız, Erdi Küçük, Juliet E. Hampstead et al. · Human Genomics · 2023 · 29 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Development of new quantitative mass spectrometry and semi-automatic isofocusing methods for the determination of Apolipoprotein E typing
Christophe Hirtz, Jérôme Vialaret, Georges Nouadje et al. · Clinica Chimica Acta · 2015 · 22 citations
Natural Sciences, Biochemistry, Molecular Biology +13
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