Schwartzentruber, Jeremy

Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

Schwartzentruber, J., Korshunov, A., Liu, X.-Y., Jones, D. T. W., Pfaff, E., Jacob, K., Sturm, D., Fontebasso, A. M., Quang, D.-A. K., Tönjes, M., et al. (2012) · Nature

Glioma Diagnosis and TreatmentChromatin Remodeling and Cancer

Cited by 2,631

Hotspot Mutations in H3F3A and IDH1 Define Distinct Epigenetic and Biological Subgroups of Glioblastoma

Sturm, D., Witt, H., Hovestadt, V., Khuong-Quang, D.-A., Jones, D. T. W., Konermann, C., Pfaff, E., Tönjes, M., Sill, M., Bender, S., et al. (2012) · Cancer Cell

Glioma Diagnosis and TreatmentChromatin Remodeling and Cancer

Cited by 1,828

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

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Finding of Rare Disease Genes (FORGE) Canada Consortium, Rivière, J.-B., Mirzaa, G. M., O'Roak, B. J., Beddaoui, M., Alcantara, D., Conway, R. L., St-Onge, J., Schwartzentruber, J. A., Gripp, K. W., et al. (2012) · Nature Genetics

Fetal and Pediatric Neurological DisordersGenomics and Rare Diseases

Cited by 741

An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci

Mountjoy, E., Schmidt, E. M., Carmona, M., Schwartzentruber, J., Peat, G., Miranda, A., Fumis, L., Hayhurst, J., Buniello, A., Karim, M. A., et al. (2021) · Nature Genetics

Genetic Associations and EpidemiologyBioinformatics and Genomic Networks

Cited by 581

Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer’s disease risk genes

Schwartzentruber, J., Cooper, S., Liu, J. Z., Barrio-Hernandez, I., Bello, E., Kumasaka, N., Young, A. M. H., Franklin, R. J. M., Johnson, T., Estrada, K., et al. (2021) · Nature Genetics

Alzheimer's disease research and treatmentsGenetic Associations and Epidemiology

Cited by 532

Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma

Fontebasso, A. M., Papillon-Cavanagh, S., Schwartzentruber, J., Nikbakht, H., Gerges, N., Fiset, P.-O., Bechet, D., Faury, D., De Jay, N., Ramkissoon, L. A., et al. (2014) · Nature Genetics

Glioma Diagnosis and TreatmentChromatin Remodeling and Cancer

Cited by 465

The next-generation Open Targets Platform: reimagined, redesigned, rebuilt

Ochoa, D., Hercules, A., Carmona, M., Suveges, D., Baker, J., Malangone, C., Lopez, I., Miranda, A., Cruz-Castillo, C., Fumis, L., et al. (2023) · Nucleic Acids Research

Computational Drug Discovery MethodsBiomedical Text Mining and Ontologies

Cited by 432

Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

Berryer, M. H., Hamdan, F. F., Klitten, L. L., Møller, R. S., Carmant, L., Schwartzentruber, J., Patry, L., Dobrzeniecka, S., Rochefort, D., Neugnot-Cerioli, M., et al. (2013) · Human Mutation

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 266

Molecular and functional variation in iPSC-derived sensory neurons

HIPSCI Consortium, Schwartzentruber, J., Foskolou, S., Kilpinen, H., Rodrigues, J., Alasoo, K., Knights, A. J., Patel, M., Goncalves, A., Ferreira, R., et al. (2018) · Nature Genetics

Genetic Associations and EpidemiologyPluripotent Stem Cells Research

Cited by 223

A Map of Transcriptional Heterogeneity and Regulatory Variation in Human Microglia

Young, A. M. H., Kumasaka, N., Calvert, F., Hammond, T. R., Knights, A., Panousis, N., Park, J. S., Schwartzentruber, J., Liu, J., Kundu, K., et al. (2021) · Nature Genetics

Neuroinflammation and Neurodegeneration MechanismsSingle-cell and spatial transcriptomics

Cited by 213

Very low-depth whole-genome sequencing in complex trait association studies

Gilly, A., Southam, L., Suveges, D., Kuchenbaecker, K., Moore, R., Melloni, G. E. M., Hatzikotoulas, K., Farmaki, A.-E., Ritchie, G., Schwartzentruber, J., et al. (2019) · Bioinformatics

Genetic Associations and EpidemiologyGenomics and Phylogenetic Studies

Cited by 93

Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia

Smith, A. C., Mears, A. J., Bunker, R., Ahmed, A., MacKenzie, M., Schwartzentruber, J. A., Beaulieu, C. L., Ferretti, E., FORGE Canada Consortium, Majewski, J., et al. (2014) · Journal of Medical Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 87

Bioinactive ACTH causing glucocorticoid deficiency

Samuels, M. E., Gallo-Payet, N., Pinard, S., Hasselmann, C., Magne, F., Patry, L., Chouinard, L., Schwartzentruber, J., René, P., Sawyer, N., et al. (2013) · The Journal of Clinical Endocrinology & Metabolism

Adrenal Hormones and DisordersMetabolism and Genetic Disorders

Cited by 55

Artificial intelligence for dementia genetics and omics

Bettencourt, C., Skene, N., Bandres‐Ciga, S., Anderson, E., Winchester, L. M., Foote, I. F., Schwartzentruber, J., Botia, J. A., Nalls, M., Singleton, A., et al. (2023) · Alzheimer's & Dementia

Dementia and Cognitive Impairment ResearchAlzheimer's disease research and treatments

Cited by 30