Hubert Journel
Centre hospitalier Bretagne Atlantique(FR)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Cystic Fibrosis Research Advances, Prenatal Screening and Diagnostics
Most-Cited Works
- → SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations(2006)241 cited
- → Mutation update for the CSB / ERCC6 and CSA / ERCC8 genes involved in Cockayne syndrome(2009)226 cited
- → A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases(2001)224 cited
- → MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations(2009)220 cited
- → Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects(2013)180 cited
- → Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy(2008)148 cited