Bourgey, Mathieu

K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas

Khuong-Quang, D.-A., Buczkowicz, P., Rakopoulos, P., Liu, X.-Y., Fontebasso, A. M., Bouffet, E., Bartels, U., Albrecht, S., Schwartzentruber, J., Letourneau, L., et al. (2012) · Acta Neuropathologica

Glioma Diagnosis and TreatmentChromatin Remodeling and Cancer

Cited by 1,028

PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions

Olson, N. D., Wagner, J., McDaniel, J., Stephens, S. H., Westreich, S. T., Prasanna, A. G., Johanson, E., Boja, E., Maier, E. J., Serang, O., et al. (2022) · Cell Genomics

Genomics and Phylogenetic StudiesGenomics and Rare Diseases

Cited by 202

Whole exome sequencing reveals the major genetic contributors to nonsyndromic tetralogy of Fallot

Page, D. J., Miossec, M. J., Williams, S. G., Monaghan, R. M., Fotiou, E., Cordell, H. J., Sutcliffe, L., Topf, A., Bourgey, M., Bourque, G., et al. (2019) · Circulation Research

Congenital heart defects researchCongenital Heart Disease Studies

Cited by 189

Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy

Béziat, V., Rapaport, F., Hu, J., Titeux, M., Bonnet des Claustres, M., Bourgey, M., Griffin, H., Bandet, É., Ma, C. S., Sherkat, R., et al. (2021) · Cell

T-cell and B-cell ImmunologyCervical Cancer and HPV Research

Cited by 95

Evolution of chromosome-arm aberrations in breast cancer through genetic network rewiring

Kuzmin, E., Baker, T. M., Lesluyes, T., Monlong, J., Abe, K. T., Coelho, P. P., Schwartz, M., Del Corpo, J., Zou, D., Morin, G., et al. (2024) · Cell Reports

Cancer Genomics and DiagnosticsBreast Cancer Treatment Studies

Cited by 20

A distributed whole genome sequencing benchmark study

Corbett, R. D., Eveleigh, R., Whitney, J., Barai, N., Bourgey, M., Chuah, E., Johnson, J., Moore, R. A., Moradin, N., Mungall, K. L., et al. (2020) · Frontiers in Genetics

Genomics and Phylogenetic StudiesGenomics and Rare Diseases

Cited by 10