Colleaux, Laurence

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

Barcia, G., Fleming, M. R., Deligniere, A., Gazula, V.-R., Brown, M. R., Langouet, M., Chen, H., Kronengold, J., Abhyankar, A., Cilio, R., et al. (2012) · Nature Genetics

Epilepsy research and treatmentIon channel regulation and function

Cited by 525

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

Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction

Amiel, J., Rio, M., Pontual, L. D., Redon, R., Malan, V., Boddaert, N., Plouin, P., Carter, N. P., Lyonnet, S., Munnich, A., et al. (2007) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 319

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

Jacquemont, M.-L., Sanlaville, D., Redon, R., Raoul, O., Cormier-Daire, V, Lyonnet, S., Amiel, J., Le Merrer, M., Heron, D., de Blois, M.-C., et al. (2006) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 305

Truncating Neurotrypsin Mutation in Autosomal Recessive Nonsyndromic Mental Retardation

Molinari, F., Rio, M., Meskenaite, V., Encha-Razavi, F., Augé, J., Bacq, D., Briault, S., Vekemans, M., Munnich, A., Attié-Bitach, T., et al. (2002) · Science

Genetics and Neurodevelopmental DisordersDown syndrome and intellectual disability research

Cited by 184

Neurobehavioral Profile and Brain Imaging Study of the 22q13.3 Deletion Syndrome in Childhood

Philippe, A., Boddaert, N., Vaivre-Douret, L., Robel, L., Danon-Boileau, L., Malan, V., de Blois, M.-C., Heron, D., Colleaux, L., Golse, B., et al. (2008) · Pediatrics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 108

Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome

Borck, G., Mollà-Herman, A., Boddaert, N., Encha-Razavi, F., Philippe, A., Robel, L., Desguerre, I., Brunelle, F., Benmerah, A., Munnich, A., et al. (2008) · Human Mutation

Genetics and Neurodevelopmental DisordersCellular transport and secretion

Cited by 44