Beckmann, Jacques S.

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

2p15 Consortium, Loviglio, M. N., 16p11.2 Consortium, Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., Waszak, S. M., Zazhytska, M., et al. (2017) · Molecular Psychiatry

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 118

Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy

Nakabayashi, K., Amann, D., Ren, Y., Saarialho-Kere, U., Avidan, N., Gentles, S., MacDonald, J. R., Puffenberger, E. G., Christiano, A. M., Martinez-Mir, A., et al. (2005) · The American Journal of Human Genetics

Hair Growth and DisordersSkin and Cellular Biology Research

Cited by 90

The number of genomic copies at the 16p11.2 locus modulates language, verbal memory, and inhibition

Hippolyte, L., Maillard, A. M., Rodriguez-Herreros, B., Pain, A., Martin-Brevet, S., Ferrari, C., Conus, P., Macé, A., Hadjikhani, N., Metspalu, A., et al. (2016) · Biological Psychiatry

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 84

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

Caffeine intake and CYP1A2 variants associated with high caffeine intake protect non-smokers from hypertension

Guessous, I., Dobrinas, M., Kutalik, Z., Pruijm, M., Ehret, G., Maillard, M., Bergmann, S., Beckmann, J. S., Cusi, D., Rizzi, F., et al. (2012) · Human Molecular Genetics

Coffee research and impactsPharmacogenetics and Drug Metabolism

Cited by 70

High-level transgene expression by homologous recombination-mediated gene transfer

Grandjean, M., Girod, P.-A., Calabrese, D., Kostyrko, K., Wicht, M., Yerly, F., Mazza, C., Beckmann, J. S., Martinet, D., & Mermod, N. (2011) · Nucleic Acids Research

Virus-based gene therapy researchRNA Interference and Gene Delivery

Cited by 53

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