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Journal of Inherited Metabolic Disease|March 9, 2011
From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseasesVincent Cantagrel, Dirk J Lefeber
Micropublication Biology|December 12, 2024
Human plasma inositol hexakisphosphate (InsP <sub>6</sub> ) phosphatase identified as the Multiple Inositol Polyphosphate Phosphatase 1 (MINPP1)Valeria Fedeli, Jingyi Wang, Vincent Cantagrel, et al.
Gene Expression Patterns : GEP|June 16, 2009
Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardationVincent Cantagrel, Marie-Reine Haddad, Philippe Ciofi, et al.
European Journal of Medical Genetics|September 22, 2023
Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretionMarion Lesieur-Sebellin, Pauline Marzin, Jean-Baptiste Arnoux, et al.
European Journal of Human Genetics : EJHG|April 7, 2022
16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencingRomain Nicolle, Karine Siquier-Pernet, Marlène Rio, et al.
Human Mutation|December 28, 2006
Truncation of NHEJ1 in a patient with polymicrogyriaVincent Cantagrel, Anne-Marie Lossi, Steven Lisgo, et al.
Molecular Autism|February 13, 2025
Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speechClothilde Ormieres, Marion Lesieur-Sebellin, Karine Siquier-Pernet, et al.
HGG Advances|October 18, 2024
LSM7 variants involving key amino acids for LSM complex function cause a neurodevelopmental disorder with leukodystrophy and cerebellar atrophyMatis Crespin, Karine Siquier-Pernet, Pauline Marzin, et al.
Elife|October 13, 2018
High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defectDaniel Medina-Cano, Ekin Ucuncu, Lam Son Nguyen, et al.
BMC Medical Genomics|June 21, 2023
A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasiaRomain Nicolle, Nami Altin, Karine Siquier-Pernet, et al.
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