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Sandrine Mary

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
2017 · Markus Wolff, Katrine M. Johannesen, et al. · Brain · 599
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FOXP1-related intellectual disability syndrome: a recognisable entity
2017 · Ilse Meerschaut, Daniel Rochefort, et al. · Journal of Medical Genetics · 74
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Gain-of-function GABRB3 variants identified in vigabatrin-hypersensitive epileptic encephalopathies
2020 · Nathan L Absalom, Vivian W Y Liao, et al. · Brain Communications · 37
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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
2023 · Burcu Yaldiz, Erdi Kucuk, et al. · Human Genomics · 30
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Development of new quantitative mass spectrometry and semi-automatic isofocusing methods for the determination of Apolipoprotein E typing
2015 · Christophe Hirtz, Jerome Vialaret, et al. · Clinica Chimica Acta · 23
Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia
2018 · Stéphanie Moortgat, Damien Lederer, et al. · European Journal of Medical Genetics · 22
An interconnected data infrastructure to support large-scale rare disease research
2024 · Lennart F Johansson, Steve Laurie, et al. · GigaScience · 8
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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
2023 · Anne-Sophie Denommé-Pichon, Leslie Matalonga, et al. · Genetics in Medicine · 6
Early sodium channel blocker initiation is associated with better outcomes in KCNQ2 disorders
2026 · Charissa Millevert, Megan Hairabedian, et al. · Brain · 1
Works count: 9
Citation count: 800
H-index: 7
I10-index: 6
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