James Lespinasse
Centre Hospitalier Métropole Savoie(FR)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Congenital heart defects research, Prenatal Screening and Diagnostics
Most-Cited Works
- → Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments(2014)654 cited
- → Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2(2006)451 cited
- → Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21(2008)325 cited
- → Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency(2002)295 cited
- → Germline mutation profile ofMEN1in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein(2002)155 cited
- → Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytoma(2007)153 cited
- → A Comparative Phenotypic Study of Kallmann Syndrome Patients Carrying Monoallelic and Biallelic Mutations in the Prokineticin 2 or Prokineticin Receptor 2 Genes(2009)145 cited
- → Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration(2010)106 cited
- → The Genetic Basis of the Pierre Robin Sequence(2006)96 cited
- → Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study(2018)91 cited