Melanie Parisot
Paris, France
Last Updated: 09/26/2026
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Found 31 publications
A heterozygous USB1 variant linked to immunodeficiency.
Journal: Journal of human immunity
Published: May 27, 2025
Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech.
Journal: Molecular autism
Published: October 14, 2024
Overexpression of Egr1 Transcription Regulator Contributes to Schwann Cell Differentiation Defects in Neural Crest-Specific Adar1 Knockout Mice.
Journal: Cells
Published: October 11, 2024
Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.
Journal: The Lancet. Neurology
Published: September 04, 2024
Fluid shear stress triggers cholesterol biosynthesis and uptake in inner medullary collecting duct cells, independently of nephrocystin-1 and nephrocystin-4.
Journal: Frontiers in molecular biosciences
Published: July 07, 2023
A 22q13.1 duplication in mosaicism including SOX10.
Journal: American journal of medical genetics. Part A
Published: May 24, 2023
Single-cell RNA-sequencing of PBMCs from SAVI patients reveals disease-associated monocytes with elevated integrated stress response.
Journal: Cell reports. Medicine
Published: May 17, 2023
Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.
Journal: Acta neuropathologica communications
Published: December 17, 2022
NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells.
Journal: Nature communications
Published: September 08, 2022
Hereditary spherocytosis associated with Noonan syndrome mimicking a dyserythropoietic anaemia.
Journal: Pediatric blood & cancer
Published: August 19, 2022
Last Updated: 09/26/2026