Majewski, Jacek

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

Paediatric and adult glioblastoma: multiform (epi)genomic culprits emerge

Sturm, D., Bender, S., Jones, D. T. W., Lichter, P., Grill, J., Becher, O., Hawkins, C., Majewski, J., Jones, C., Costello, J. F., et al. (2014) · Nature Reviews Cancer

Glioma Diagnosis and TreatmentCancer Genomics and Diagnostics

Cited by 555

The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape

Weinberg, D. N., Papillon-Cavanagh, S., Chen, H., Yue, Y., Chen, X., Rajagopalan, K. N., Horth, C., McGuire, J. T., Xu, X., Nikbakht, H., et al. (2019) · Nature

Epigenetics and DNA MethylationGenomics and Chromatin Dynamics

Cited by 524

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

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

Spatial and temporal homogeneity of driver mutations in diffuse intrinsic pontine glioma

Nikbakht, H., Panditharatna, E., Mikael, L. G., Li, R., Gayden, T., Osmond, M., Ho, C.-Y., Kambhampati, M., Hwang, E. I., Faury, D., et al. (2016) · Nature Communications

Glioma Diagnosis and TreatmentCancer Genomics and Diagnostics

Cited by 252

Meta-analysis of genome scans of age-related macular degeneration

Fisher, S. A., Abecasis, G. R., Yashar, B. M., Zareparsi, S., Swaroop, A., Iyengar, S. K., Klein, B. E. K., Klein, R., Lee, K. E., Majewski, J., et al. (2005) · Human Molecular Genetics

Genetic Associations and EpidemiologyRetinal Diseases and Treatments

Cited by 239

The study of eQTL variations by RNA-seq: from SNPs to phenotypes

Majewski, J., & Pastinen, T. (2011) · Trends in Genetics

Genetic Associations and EpidemiologyRNA Research and Splicing

Cited by 232

Age-related macular degeneration–a genome scan in extended families

Majewski, J., Schultz, D. W., Weleber, R. G., Schain, M. B., Edwards, A. O., Matise, T. C., Acott, T. S., Ott, J., & Klein, M. L. (2003) · The American Journal of Human Genetics

Retinal Diseases and TreatmentsGenetic Associations and Epidemiology

Cited by 201

DNM1L-related mitochondrial fission defect presenting as refractory epilepsy

Care4Rare Consortium, Vanstone, J. R., Smith, A. M., McBride, S., Naas, T., Holcik, M., Antoun, G., Harper, M.-E., Michaud, J., Sell, E., et al. (2016) · European Journal of Human Genetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 135

RNA sequencing reveals the role of splicing polymorphisms in regulating human gene expression

Lalonde, E., Ha, K. C. H., Wang, Z., Bemmo, A., Kleinman, C. L., Kwan, T., Pastinen, T., & Majewski, J. (2011) · Genome Research

RNA Research and SplicingGenetic Associations and Epidemiology

Cited by 111

A Unique Morphological Phenotype in Chemoresistant Triple-Negative Breast Cancer Reveals Metabolic Reprogramming and PLIN4 Expression as a Molecular Vulnerability

Sirois, I., Aguilar-Mahecha, A., Lafleur, J., Fowler, E., Vu, V., Scriver, M., Buchanan, M., Chabot, C., Ramanathan, A., Balachandran, B., et al. (2019) · Molecular Cancer Research

Cancer, Lipids, and MetabolismBreast Cancer Treatment Studies

Cited by 110

A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

Guéant, J.-L., Chéry, C., Oussalah, A., Nadaf, J., Coelho, D., Josse, T., Flayac, J., Robert, A., Koscinski, I., Gastin, I., et al. (2018) · Nature Communications

Epigenetics and DNA MethylationMetabolism and Genetic Disorders

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

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Ito, Y., Carss, K. J., Duarte, S. T., Hartley, T., Keren, B., Kurian, M. A., Marey, I., Charles, P., Mendonça, C., Nava, C., et al. (2018) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 41