Beatrice Costa

Incomplete annotation of disease-associated genes is limiting our 1 understanding of Mendelian and complex neurogenetic disorders 2

Sebastian Guelfi, M. Ryten, A. Jaffe, 2019 .

Incomplete annotation of OMIM genes is likely to be limiting the diagnostic yield of genetic testing, particularly for neurogenetic disorders

J. Hardy, Sebastian Guelfi, M. Ryten, 2018, bioRxiv.

C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts

Demis A. Kia, O. Andreassen, B. Miller, 2020, Neurology.

Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders

Leonardo Collado-Torres, Andrew E. Jaffe, Juan A. Botía, 2020, Science Advances.

Incomplete annotation has a disproportionate impact on our understanding of Mendelian and complex neurogenetic disorders

J. Hardy, M. Ryten, A. Jaffe, 2020, Science Advances.