Lespinasse, James

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

Leblond, C. S., Nava, C., Polge, A., Gauthier, J., Huguet, G., Lumbroso, S., Giuliano, F., Stordeur, C., Depienne, C., Mouzat, K., et al. (2014) · PLoS Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 630

Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2

Dodé, C., Teixeira, L., Levilliers, J., Fouveaut, C., Bouchard, P., Kottler, M.-L., Lespinasse, J., Lienhardt-Roussie, A., Mathieu, M., Moerman, A., et al. (2006) · PLoS Genetics

Hypothalamic control of reproductive hormonesOlfactory and Sensory Function Studies

Cited by 457

Genotype-phenotype correlations in down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

Lyle, R., Béna, F., Gagos, S., Gehrig, C., Lopez, G., Schinzel, A., Lespinasse, J., Bottani, A., Dahoun, S., Taine, L., et al. (2009) · European Journal of Human Genetics

Down syndrome and intellectual disability researchGenomic variations and chromosomal abnormalities

Cited by 331

Quantifying the effects of 16p11.2 copy number variants on brain structure: a multisite genetic-first study

Martin-Brevet, S., Rodríguez-Herreros, B., Nielsen, J. A., Moreau, C., Modenato, C., Maillard, A. M., Pain, A., Richetin, S., Jønch, A. E., Qureshi, A. Y., et al. (2018) · Biological Psychiatry

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 75

Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

Jønch, A. E., Douard, E., Moreau, C., Van Dijck, A., Passeggeri, M., Kooy, F., Puechberty, J., Campbell, C., Sanlaville, D., Lefroy, H., et al. (2019) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 75

Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome

Leroy, C., Fouveaut, C., Leclercq, S., Jacquemont, S., Boullay, H. D., Lespinasse, J., Delpech, M., Dupont, J.-M., Hardelin, J.-P., & Dodé, C. (2008) · European Journal of Human Genetics

Hypothalamic control of reproductive hormonesGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Cited by 48

Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 copy number variations

Cárdenas-de-la-Parra, A., Martin-Brevet, S., Moreau, C., Rodriguez-Herreros, B., Fonov, V. S., Maillard, A. M., Zürcher, N. R., Addor, M.-C., Andrieux, J., Arveiler, B., et al. (2019) · NeuroImage

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 14