Lacombe, Didier

LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development

Gong, Y., Slee, R. B., Fukai, N., Rawadi, G., Roman-Roman, S., Reginato, A. M., Wang, H., Cundy, T., Glorieux, F. H., Lev, D., et al. (2001) · Cell

Bone health and osteoporosis researchBone Metabolism and Diseases

Cited by 2,235

Defining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities

D’Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Snyder, L. G., Hippolyte, L., Hanson, E., Maillard, A. M., Faucett, W. A., Macé, A., et al. (2016) · JAMA Psychiatry

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 277

Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1(KAL2): MUTATIONS IN BRIEF

Albuisson, J., Pêcheux, C., Carel, J.-C., Lacombe, D., Leheup, B., Lapuzina, P., Bouchard, P., Legius, E., Matthijs, G., Wasniewska, M., et al. (2005) · Human Mutation

Hypothalamic control of reproductive hormonesPituitary Gland Disorders and Treatments

Cited by 146

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

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

Atypical hematologic and renal manifestations in Neurofibromatosis type I: Coincidence or pathophysiological link?

Van-Gils, J., Harambat, J., Jubert, C., Vidaud, D., Llanas, B., Perel, Y., Lacombe, D., & Goizet, C. (2014) · European Journal of Medical Genetics

Neurofibromatosis and Schwannoma CasesNeuroblastoma Research and Treatments

Cited by 6