Faivre, Laurence

Anatomical and functional abnormalities on MRI in kabuki syndrome

Boisgontier, J., Tacchella, J. M., Lemaître, H., Lehman, N., Saitovitch, A., Gatinois, V., Boursier, G., Sanchez, E., Rechtman, E., Fillon, L., et al. (2019) · NeuroImage: Clinical

Genetics and Neurodevelopmental DisordersFetal and Pediatric Neurological Disorders

Cited by 29

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

de Boer, E., Ockeloen, C. W., Kampen, R. A., Hampstead, J. E., Dingemans, A. J. M., Rots, D., Lütje, L., Ashraf, T., Baker, R., Barat-Houari, M., et al. (2022) · Genetics in Medicine

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 28

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

Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders

Tran Mau-Them, F., Moutton, S., Racine, C., Vitobello, A., Bruel, A.-L., Nambot, S., Kushner, S. A., de Vrij, F. M. S., Lehalle, D., Jean-Marçais, N., et al. (2020) · Human Genetics

Genomics and Rare DiseasesConnective tissue disorders research

Cited by 14

Anxiety, concerns and COVID-19: Cross-country perspectives from families and individuals with neurodevelopmental conditions

Sideropoulos, V., Van Herwegen, J., Meuleman, B., Alessandri, M., Alnemary, F. M., Rad, J. A., Lavenex, P. A. B., Bolshakov, N., Bölte, S., Buffle, P., et al. (2023) · Journal of Global Health

COVID-19 and Mental HealthChild and Adolescent Psychosocial and Emotional Development

Cited by 7