Pauline Marzin

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

Christel Depienne, Caroline Nava, Boris Keren et al. · Human Genetics · 2017 · 119 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Cyril Mignot, Aoife McMahon, Claire Bar et al. · Genetics in Medicine · 2018 · 62 citations · Full text

Medicine, Genetics, Neurology +17

Geleophysic and acromicric dysplasias: natural history, genotype–phenotype correlations, and management guidelines from 38 cases

Pauline Marzin, Briac Thierry, Andrea Dancasius et al. · Genetics in Medicine · 2020 · 35 citations · Full text

Medicine, Genetics, Pathology +17

Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations

Pauline Marzin, Cyril Mignot, Nathalie Dorison et al. · Brain and Development · 2018 · 25 citations

Medicine, Neurology, Pediatrics +15

Potential selection of genetically balanced spermatozoa based on the hypo-osmotic swelling test in chromosomal rearrangement carriers

Alexandre Rouen, Léa Carlier, Solveig Heide et al. · Reproductive BioMedicine Online · 2017 · 20 citations · Full text

Life Sciences, Biology, Genetics +14