Devoto, Marcella

Identification of ALK as a major familial neuroblastoma predisposition gene

Mossé, Y. P., Laudenslager, M., Longo, L., Cole, K. A., Wood, A., Attiyeh, E. F., Laquaglia, M. J., Sennett, R., Lynch, J. E., Perri, P., et al. (2008) · Nature

Neuroblastoma Research and TreatmentsNeurofibromatosis and Schwannoma Cases

Cited by 1,407

Complex genetic signatures in immune cells underlie autoimmunity and inform therapy

Orrù, V., Steri, M., Sidore, C., Marongiu, M., Serra, V., Olla, S., Sole, G., Lai, S., Dei, M., Mulas, A., et al. (2020) · Nature Genetics

Genetic Associations and EpidemiologyMultiple Sclerosis Research Studies

Cited by 1,246

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

Krantz, I. D., McCallum, J., DeScipio, C., Kaur, M., Gillis, L. A., Yaeger, D., Jukofsky, L., Wasserman, N., Bottani, A., Morris, C. A., et al. (2004) · Nature Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 713

A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene

Hakonarson, H., Grant, S. F. A., Bradfield, J. P., Marchand, L., Kim, C. E., Glessner, J. T., Grabs, R., Casalunovo, T., Taback, S. P., Frackelton, E. C., et al. (2007) · Nature

Diabetes and associated disordersGenetic Associations and Epidemiology

Cited by 542

Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

Elia, J., Gai, X., Xie, H. M., Perin, J. C., Geiger, E., Glessner, J. T., D'arcy, M., deBerardinis, R., Frackelton, E., Kim, C., et al. (2010) · Molecular Psychiatry

Attention Deficit Hyperactivity DisorderGenomic variations and chromosomal abnormalities

Cited by 529

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

Elia, J., Glessner, J. T., Wang, K., Takahashi, N., Shtir, C. J., Hadley, D., Sleiman, P. M. A., Zhang, H., Kim, C. E., Robison, R., et al. (2012) · Nature Genetics

Attention Deficit Hyperactivity DisorderGenomic variations and chromosomal abnormalities

Cited by 406

Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice

Zou, Y., Zwolanek, D., Izu, Y., Gandhy, S., Schreiber, G., Brockmann, K., Devoto, M., Tian, Z., Hu, Y., Veit, G., et al. (2014) · Human Molecular Genetics

Muscle Physiology and DisordersConnective tissue disorders research

Cited by 143

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

Mlynarski, E. E., Sheridan, M. B., Xie, M., Guo, T., Racedo, S. E., McDonald-McGinn, D. M., Gai, X., Chow, E. W. C., Vorstman, J., Swillen, A., et al. (2015) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesCongenital heart defects research

Cited by 74