Labalme, Audrey

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

Walters, R. G., Jacquemont, S., Valsesia, A., de Smith, A. J., Martinet, D., Andersson, J., Falchi, M., Chen, F., Andrieux, J., Lobbens, S., et al. (2010) · Nature

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

Cited by 543

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Jacquemont, S., Reymond, A., Zufferey, F., Harewood, L., Walters, R. G., Kutalik, Z., Martinet, D., Shen, Y., Valsesia, A., Beckmann, N. D., et al. (2011) · Nature

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 462

Delineation of 15q13.3 microdeletions.

Masurel‐Paulet, A., Andrieux, J., Callier, P., Cuisset, J., Le Caignec, C., Holder, M., Thauvin‐Robinet, C., Doray, B., Flori, E., Alex‐Cordier, M., et al. (2010) · Clinical Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 145

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

Béna, F., Bruno, D. L., Eriksson, M., van Ravenswaaij‐Arts, C., Stark, Z., Dijkhuizen, T., Gerkes, E., Gimelli, S., Ganesamoorthy, D., Thuresson, A. C., et al. (2013) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Cited by 109

A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion

Pons, L., Cordier, M. P., Labalme, A., Till, M., Louvrier, C., Schluth‐Bolard, C., Lesca, G., Edery, P., & Sanlaville, D. (2015) · American Journal of Medical Genetics Part A

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 44

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

Guo, H., Zhang, Q., Dai, R., Yu, B., Hoekzema, K., Tan, J., Tan, S., Jia, X., Chung, W. K., Hernan, R., et al. (2020) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 38

Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report

Poisson, A., Chatron, N., Labalme, A., Fourneret, P., Ville, D., Mathieu, M. L., Sanlaville, D., Demily, C., & Lesca, G. (2020) · BMC Medical Genetics

Schizophrenia research and treatmentGenomic variations and chromosomal abnormalities

Cited by 16